#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
SDK1	221935	hgsc.bcm.edu	37	7	4169684	4169684	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:4169684G>A	ENST00000404826.2	+	27	4223	c.4084G>A	c.(4084-4086)Ggg>Agg	p.G1362R	SDK1_ENST00000389531.3_Missense_Mutation_p.G1362R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1362	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATCGGGAACGGGGTCCCCAG	0.662																																																	0			7											46.0	47.0	47.0					7																	4169684		2203	4300	6503	4136210	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4084G>A	7.37:g.4169684G>A	ENSP00000385899:p.Gly1362Arg	Somatic		Capture	Illumina HiSeq	Phase_I	4136210	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465207	0.96257	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.66280	-0.2;-0.2	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.89322	0.6682	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93668	0.6987	10	0.87932	D	0	.	19.7534	0.96277	0.0:0.0:1.0:0.0	.	1362;1362	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	R	1362	ENSP00000385899:G1362R;ENSP00000374182:G1362R	ENSP00000374182:G1362R	G	+	1	0	SDK1	4136210	1.000000	0.71417	0.947000	0.38551	0.972000	0.66771	9.041000	0.93788	2.686000	0.91538	0.655000	0.94253	GGG		SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
TNS3	64759	hgsc.bcm.edu	37	7	47467961	47467961	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:47467961C>T	ENST00000398879.1	-	9	704	c.338G>A	c.(337-339)cGc>cAc	p.R113H	TNS3_ENST00000355730.3_Missense_Mutation_p.R113H|TNS3_ENST00000458317.2_Missense_Mutation_p.R113H|TNS3_ENST00000311160.9_Missense_Mutation_p.R113H|TNS3_ENST00000442536.2_Missense_Mutation_p.R113H			Q68CZ2	TENS3_HUMAN	tensin 3	113	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACTCCTATGCGTCCTTTCCC	0.478																																																	0			7											111.0	107.0	108.0					7																	47467961		2015	4182	6197	47434486	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.338G>A	7.37:g.47467961C>T	ENSP00000381854:p.Arg113His	Somatic		Capture	Illumina HiSeq	Phase_I	47434486	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831196	0.91036	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317;ENST00000415929	D;D;D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.82	5.82	0.92795	Phosphatase tensin type (1);	0.112759	0.64402	D	0.000017	D	0.99908	0.9956	H	0.96142	3.775	0.48395	D	0.999644	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.96498	0.9369	10	0.72032	D	0.01	-46.5292	17.5737	0.87942	0.0:1.0:0.0:0.0	.	113;113	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	H	113;223;113;113;216;202;113;113;113	ENSP00000312143:R113H;ENSP00000381854:R113H;ENSP00000347968:R113H;ENSP00000414358:R216H;ENSP00000396914:R202H;ENSP00000389285:R113H;ENSP00000388318:R113H;ENSP00000409415:R113H	ENSP00000312143:R113H	R	-	2	0	TNS3	47434486	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.100000	0.64560	2.736000	0.93811	0.655000	0.94253	CGC		TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
GTF2IRD2B	389524	hgsc.bcm.edu	37	7	74564623	74564623	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:74564623A>G	ENST00000312575.7	+	16	2545	c.2370A>G	c.(2368-2370)aaA>aaG	p.K790K	GTF2IRD2B_ENST00000418185.2_Silent_p.K337K	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	790					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						tcctagcaaaactgtgcctct	0.483																																																	0			7											23.0	24.0	23.0					7																	74564623		1482	3150	4632	74202559	SO:0001819	synonymous_variant	389524			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.2370A>G	7.37:g.74564623A>G		Somatic		Capture	Illumina HiSeq	Phase_I	74202559	B2RNE9|Q69GU6|Q8N979|Q9H739	Silent	SNP	ENST00000312575.7	37	CCDS34659.1																																																																																				GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	NM_001003795	
MAGI2	9863	hgsc.bcm.edu	37	7	77885427	77885427	+	Missense_Mutation	SNP	C	C	A	rs201473728		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:77885427C>A	ENST00000354212.4	-	10	2133	c.1880G>T	c.(1879-1881)cGg>cTg	p.R627L	MAGI2_ENST00000419488.1_Missense_Mutation_p.R627L|MAGI2_ENST00000536571.1_Missense_Mutation_p.R459L|MAGI2_ENST00000522391.1_Missense_Mutation_p.R627L|MAGI2_ENST00000535697.1_Missense_Mutation_p.R464L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	627	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTGTTTCACCCGCTGTCCTGT	0.512																																																	0			7											71.0	60.0	64.0					7																	77885427		2203	4300	6503	77723363	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1880G>T	7.37:g.77885427C>A	ENSP00000346151:p.Arg627Leu	Somatic		Capture	Illumina HiSeq	Phase_I	77723363	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529903	0.85706	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.000000	0.33457	U	0.004881	T	0.53174	0.1780	M	0.72894	2.215	0.80722	D	1	D;P;D;D;D;D	0.89917	0.994;0.942;1.0;1.0;0.999;0.999	D;P;D;D;D;D	0.91635	0.937;0.704;0.999;0.999;0.966;0.997	T	0.54186	-0.8331	10	0.87932	D	0	.	18.6986	0.91611	0.0:1.0:0.0:0.0	.	464;459;627;627;627;627	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	L	627;627;627;627;459;464	ENSP00000405766:R627L;ENSP00000346151:R627L;ENSP00000428389:R627L;ENSP00000441584:R459L;ENSP00000441603:R464L	ENSP00000346151:R627L	R	-	2	0	MAGI2	77723363	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.814000	0.86154	2.653000	0.90120	0.561000	0.74099	CGG		MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
ADAM22	53616	hgsc.bcm.edu	37	7	87782584	87782584	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:87782584G>A	ENST00000265727.7	+	21	1809	c.1730G>A	c.(1729-1731)gGg>gAg	p.G577E	ADAM22_ENST00000398201.4_Missense_Mutation_p.G577E|ADAM22_ENST00000398209.3_Missense_Mutation_p.G577E|ADAM22_ENST00000315984.7_Missense_Mutation_p.G577E|ADAM22_ENST00000398204.4_Missense_Mutation_p.G577E			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	577	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AATATTGAAGGGACGGAGAAG	0.438																																																	0			7											116.0	115.0	116.0					7																	87782584		1939	4137	6076	87620520	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1730G>A	7.37:g.87782584G>A	ENSP00000265727:p.Gly577Glu	Somatic		Capture	Illumina HiSeq	Phase_I	87620520	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614944	0.87359	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	5.45	5.45	0.79879	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	H	0.98256	4.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.81642	-0.0840	10	0.87932	D	0	.	18.0363	0.89303	0.0:0.0:1.0:0.0	.	629;577;577;577	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	E	577;577;577;577;577;544	ENSP00000381262:G577E;ENSP00000381260:G577E;ENSP00000265727:G577E;ENSP00000315900:G577E;ENSP00000381267:G577E;ENSP00000381261:G544E	ENSP00000265727:G577E	G	+	2	0	ADAM22	87620520	1.000000	0.71417	0.973000	0.42090	0.669000	0.39330	9.286000	0.95898	2.554000	0.86153	0.655000	0.94253	GGG		ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
CYP3A4	1576	hgsc.bcm.edu	37	7	99381645	99381645	+	Silent	SNP	C	C	T	rs375059964		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:99381645C>T	ENST00000336411.2	-	1	243	c.60G>A	c.(58-60)gtG>gtA	p.V20V	CYP3A4_ENST00000354593.2_Silent_p.V20V	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	20					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GATAGAGGAGCACCAGGCTGA	0.493																																																	0			7						C	,	2,4404	4.2+/-10.8	0,2,2201	150.0	131.0	138.0		60,60	0.6	1.0	7		138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CYP3A4	NM_001202855.2,NM_017460.5	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	20/503,20/504	99381645	2,13004	2203	4300	6503	99219581	SO:0001819	synonymous_variant	1576			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.60G>A	7.37:g.99381645C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99219581	P05184|Q16757|Q9UK50	Silent	SNP	ENST00000336411.2	37	CCDS5674.1																																																																																				CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1		
ZSCAN21	7589	hgsc.bcm.edu	37	7	99662465	99662465	+	3'UTR	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:99662465C>T	ENST00000292450.4	+	0	1811				ZSCAN21_ENST00000456748.2_3'UTR|ZSCAN21_ENST00000543588.1_3'UTR|ZNF3_ENST00000413658.2_Silent_p.A114A	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21						positive regulation of transcription, DNA-templated (GO:0045893)|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)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGAGTCCCTTCGCCACACTTA	0.512																																																	0			7											136.0	144.0	141.0					7																	99662465		2118	4233	6351	99500401	SO:0001624	3_prime_UTR_variant	7551			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.*225C>T	7.37:g.99662465C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99500401	A4D2A6|D6W5T9|Q9H0B5	Silent	SNP	ENST00000292450.4	37	CCDS5681.1																																																																																				ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914	
LAMB4	22798	hgsc.bcm.edu	37	7	107689918	107689918	+	Missense_Mutation	SNP	A	A	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:107689918A>C	ENST00000388781.3	-	27	4058	c.3975T>G	c.(3973-3975)atT>atG	p.I1325M	LAMB4_ENST00000205386.4_Missense_Mutation_p.I1325M|LAMB4_ENST00000388780.3_Missense_Mutation_p.I1325M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1325	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAGTTTCATTAATTTTCTTTT	0.318																																																	0			7											171.0	150.0	157.0					7																	107689918		2201	4299	6500	107477154	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3975T>G	7.37:g.107689918A>C	ENSP00000373433:p.Ile1325Met	Somatic		Capture	Illumina HiSeq	Phase_I	107477154	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	A	7.842	0.722185	0.15372	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32753	1.44;1.44;1.84;1.46	4.97	-0.585	0.11698	.	1.177410	0.06265	N	0.694547	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	P;P	0.48089	0.905;0.761	B;B	0.43575	0.424;0.275	T	0.09015	-1.0694	10	0.51188	T	0.08	.	0.5668	0.00688	0.332:0.1158:0.188:0.3643	.	1325;1325	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	M	1325;1325;351;1325	ENSP00000205386:I1325M;ENSP00000373433:I1325M;ENSP00000416562:I351M;ENSP00000373432:I1325M	ENSP00000205386:I1325M	I	-	3	3	LAMB4	107477154	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	-0.681000	0.05191	-0.238000	0.09724	-0.256000	0.11100	ATT		LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LAMB4	22798	hgsc.bcm.edu	37	7	107704331	107704331	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:107704331G>T	ENST00000388781.3	-	22	3019	c.2936C>A	c.(2935-2937)aCc>aAc	p.T979N	LAMB4_ENST00000205386.4_Missense_Mutation_p.T979N|LAMB4_ENST00000388780.3_Missense_Mutation_p.T979N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	979	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTCTGGATCGGTTACATCTAT	0.507																																																	0			7											174.0	162.0	166.0					7																	107704331		2203	4300	6503	107491567	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2936C>A	7.37:g.107704331G>T	ENSP00000373433:p.Thr979Asn	Somatic		Capture	Illumina HiSeq	Phase_I	107491567	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978930	0.53827	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.62788	0.17;0.17;-0.0;0.17	5.11	3.3	0.37823	EGF-like, laminin (3);	0.408199	0.20762	N	0.086148	T	0.44540	0.1298	N	0.21373	0.66	0.09310	N	0.999999	B	0.26935	0.164	B	0.31442	0.13	T	0.28138	-1.0053	10	0.28530	T	0.3	.	6.2931	0.21071	0.0724:0.1331:0.6564:0.138	.	979	A4D0S4	LAMB4_HUMAN	N	979;979;5;979	ENSP00000205386:T979N;ENSP00000373433:T979N;ENSP00000416562:T5N;ENSP00000373432:T979N	ENSP00000205386:T979N	T	-	2	0	LAMB4	107491567	0.000000	0.05858	0.004000	0.12327	0.940000	0.58332	0.536000	0.23129	0.735000	0.32537	0.563000	0.77884	ACC		LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
MET	4233	hgsc.bcm.edu	37	7	116417499	116417499	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:116417499C>T	ENST00000318493.6	+	16	3557	c.3370C>T	c.(3370-3372)Cac>Tac	p.H1124Y	MET_ENST00000397752.3_Missense_Mutation_p.H1106Y|MET_ENST00000539704.1_5'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H1124D(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAGAAAATTCACTGTGCTGT	0.348			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)	7											200.0	188.0	191.0					7																	116417499		1841	4082	5923	116204735	SO:0001583	missense	8731	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3370C>T	7.37:g.116417499C>T	ENSP00000317272:p.His1124Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	116204735	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120766	0.77436	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	D;D	0.82619	-1.63;-1.63	5.29	5.29	0.74685	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	0.86260	0.5890	N	0.21240	0.645	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.979;0.994	D	0.88223	0.2898	10	0.87932	D	0	-15.6536	19.2953	0.94119	0.0:1.0:0.0:0.0	.	1124;1106	P08581-2;P08581	.;MET_HUMAN	Y	1106;1124	ENSP00000380860:H1106Y;ENSP00000317272:H1124Y	ENSP00000317272:H1124Y	H	+	1	0	MET	116204735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.959000	0.70339	2.628000	0.89032	0.655000	0.94253	CAC		MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
LRGUK	136332	hgsc.bcm.edu	37	7	133948672	133948672	+	Missense_Mutation	SNP	G	G	A	rs138421011	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:133948672G>A	ENST00000285928.2	+	20	2492	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	808						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GTCATCAGTCGCCCAGGTTCC	0.468																																																	0			7											160.0	120.0	134.0					7																	133948672		2203	4300	6503	133599212	SO:0001583	missense	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2423G>A	7.37:g.133948672G>A	ENSP00000285928:p.Arg808His	Somatic		Capture	Illumina HiSeq	Phase_I	133599212	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	9.996	1.232280	0.22626	.	.	ENSG00000155530	ENST00000285928	T	0.37058	1.22	5.12	-5.66	0.02451	.	1.338460	0.05238	N	0.511617	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17592	-1.0364	10	0.27785	T	0.31	5.3275	5.351	0.16036	0.5142:0.0:0.2567:0.2291	.	808	Q96M69	LRGUK_HUMAN	H	808	ENSP00000285928:R808H	ENSP00000285928:R808H	R	+	2	0	LRGUK	133599212	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-1.215000	0.02985	-1.361000	0.02169	-0.137000	0.14449	CGC		LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
OR2A5	393046	hgsc.bcm.edu	37	7	143747768	143747768	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:143747768A>G	ENST00000408906.2	+	1	308	c.274A>G	c.(274-276)Atc>Gtc	p.I92V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GAGAAAAACAATCTCCTTTGT	0.433																																																	0			7											136.0	136.0	136.0					7																	143747768		2156	4276	6432	143378701	SO:0001583	missense	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.274A>G	7.37:g.143747768A>G	ENSP00000386208:p.Ile92Val	Somatic		Capture	Illumina HiSeq	Phase_I	143378701	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	A	6.722	0.501942	0.12822	.	.	ENSG00000221836	ENST00000408906	T	0.00469	7.21	5.37	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00815	0.0027	M	0.80422	2.495	0.27823	N	0.941739	B	0.16603	0.018	B	0.33339	0.162	T	0.18461	-1.0336	9	0.72032	D	0.01	.	11.7778	0.51995	0.9232:0.0:0.0768:0.0	.	92	Q96R48	OR2A5_HUMAN	V	92	ENSP00000386208:I92V	ENSP00000386208:I92V	I	+	1	0	OR2A5	143378701	0.972000	0.33761	0.281000	0.24762	0.195000	0.23768	2.564000	0.45931	0.481000	0.27557	-1.162000	0.01777	ATC		OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
OR2A5	393046	hgsc.bcm.edu	37	7	143748026	143748026	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:143748026T>C	ENST00000408906.2	+	1	566	c.532T>C	c.(532-534)Ttc>Ctc	p.F178L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CAACCACTTCTTCTGTGAAAT	0.557																																																	0			7											185.0	188.0	187.0					7																	143748026		2036	4209	6245	143378959	SO:0001583	missense	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.532T>C	7.37:g.143748026T>C	ENSP00000386208:p.Phe178Leu	Somatic		Capture	Illumina HiSeq	Phase_I	143378959	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125402	0.77436	.	.	ENSG00000221836	ENST00000408906	T	0.00220	8.52	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33438	U	0.004917	T	0.00328	0.0010	M	0.71581	2.175	0.33693	D	0.613515	P	0.40180	0.705	P	0.46975	0.533	T	0.69022	-0.5255	10	0.42905	T	0.14	.	13.1424	0.59442	0.0:0.0:0.0:1.0	.	178	Q96R48	OR2A5_HUMAN	L	178	ENSP00000386208:F178L	ENSP00000386208:F178L	F	+	1	0	OR2A5	143378959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.795000	0.55499	2.202000	0.70862	0.455000	0.32223	TTC		OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
OR2A5	393046	hgsc.bcm.edu	37	7	143748213	143748213	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr7:143748213C>A	ENST00000408906.2	+	1	753	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GCCTTCTCCACCTGCTCCTCC	0.632																																																	0			7											98.0	99.0	99.0					7																	143748213		2034	4197	6231	143379146	SO:0001583	missense	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.719C>A	7.37:g.143748213C>A	ENSP00000386208:p.Thr240Asn	Somatic		Capture	Illumina HiSeq	Phase_I	143379146	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692803	0.88735	.	.	ENSG00000221836	ENST00000408906	T	0.40476	1.03	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32868	U	0.005552	T	0.68081	0.2962	M	0.93462	3.42	0.49130	D	0.999754	P	0.49961	0.93	P	0.53988	0.739	T	0.77048	-0.2732	10	0.87932	D	0	.	16.6572	0.85231	0.0:1.0:0.0:0.0	.	240	Q96R48	OR2A5_HUMAN	N	240	ENSP00000386208:T240N	ENSP00000386208:T240N	T	+	2	0	OR2A5	143379146	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.522000	0.60539	2.797000	0.96272	0.650000	0.86243	ACC		OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
TRIB3	57761	hgsc.bcm.edu	37	20	377085	377085	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:377085G>A	ENST00000217233.3	+	4	1381	c.828G>A	c.(826-828)ggG>ggA	p.G276G	TRIB3_ENST00000422053.2_Silent_p.G303G	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		TCCGCCGCGGGGCCTACGCCT	0.682																																					Melanoma(101;421 2374 19538)												0			20											50.0	51.0	50.0					20																	377085		2203	4299	6502	325085	SO:0001819	synonymous_variant	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.828G>A	20.37:g.377085G>A		Somatic		Capture	Illumina HiSeq	Phase_I	325085	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Silent	SNP	ENST00000217233.3	37	CCDS12997.1																																																																																				TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158	
PAK7	57144	hgsc.bcm.edu	37	20	9561002	9561002	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:9561002G>T	ENST00000378429.3	-	5	1326	c.780C>A	c.(778-780)agC>agA	p.S260R	PAK7_ENST00000378423.1_Missense_Mutation_p.S260R|RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Missense_Mutation_p.S260R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	260	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S260S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGTCATCCAGGCTGGGTCCCC	0.562																																																	1	Substitution - coding silent(1)	ovary(1)	20											100.0	94.0	96.0					20																	9561002		2203	4300	6503	9509002	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.780C>A	20.37:g.9561002G>T	ENSP00000367686:p.Ser260Arg	Somatic		Capture	Illumina HiSeq	Phase_I	9509002	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867371	0.32977	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.32515	1.45;1.45;1.45	5.11	4.1	0.47936	.	0.591766	0.19576	N	0.110989	T	0.21509	0.0518	L	0.36672	1.1	0.33313	D	0.566291	B;P	0.37864	0.201;0.61	B;B	0.31812	0.029;0.136	T	0.25813	-1.0121	9	.	.	.	.	12.1711	0.54160	0.0:0.0:0.8299:0.1701	.	260;260	B0AZM9;Q9P286	.;PAK7_HUMAN	R	260;260;260;208	ENSP00000367686:S260R;ENSP00000322957:S260R;ENSP00000367679:S260R	.	S	-	3	2	PAK7	9509002	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.117000	0.31234	2.550000	0.86006	0.637000	0.83480	AGC		PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
JAG1	182	hgsc.bcm.edu	37	20	10622147	10622147	+	Silent	SNP	C	C	T	rs142085300		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:10622147C>T	ENST00000254958.5	-	23	3392	c.2877G>A	c.(2875-2877)gcG>gcA	p.A959A	JAG1_ENST00000423891.2_Silent_p.A800A	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	959					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.A959A(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATGTGATGTTCGCACAGTTAT	0.463									Alagille Syndrome																																								1	Substitution - coding silent(1)	ovary(1)	20						C		0,4406		0,0,2203	151.0	147.0	148.0		2877	-11.6	0.7	20	dbSNP_134	148	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	JAG1	NM_000214.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		959/1219	10622147	2,13004	2203	4300	6503	10570147	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2877G>A	20.37:g.10622147C>T		Somatic		Capture	Illumina HiSeq	Phase_I	10570147	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																				JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
PCSK2	5126	hgsc.bcm.edu	37	20	17437010	17437010	+	Silent	SNP	C	C	T	rs538265087	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:17437010C>T	ENST00000262545.2	+	10	1434	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	PCSK2_ENST00000377899.1_Silent_p.Y354Y|PCSK2_ENST00000536609.1_Silent_p.Y338Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	373	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGATTTGTACGGCAACTGCA	0.507													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19912	0.0		0.001	False		,,,				2504	0.0																0			20											185.0	186.0	186.0					20																	17437010		2203	4300	6503	17385010	SO:0001819	synonymous_variant	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1119C>T	20.37:g.17437010C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17385010	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	CCDS13125.1																																																																																				PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
BFSP1	631	hgsc.bcm.edu	37	20	17475196	17475196	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:17475196G>A	ENST00000377873.3	-	8	1560	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	BFSP1_ENST00000544874.1_Silent_p.D368D|BFSP1_ENST00000536626.1_Silent_p.D368D|BFSP1_ENST00000377868.2_Silent_p.D382D	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	507	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CCACCTGGCCGTCATAAAGCA	0.542																																																	0			20											62.0	53.0	56.0					20																	17475196		2203	4300	6503	17423196	SO:0001819	synonymous_variant	631			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1521C>T	20.37:g.17475196G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17423196	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	ENST00000377873.3	37	CCDS13126.1																																																																																				BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195	
MYH7B	57644	hgsc.bcm.edu	37	20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T	rs369138767		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:33582119C>T	ENST00000262873.7	+	25	2833	c.2741C>T	c.(2740-2742)gCg>gTg	p.A914V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	872						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGCTGGCTGCGGCCGAGGCC	0.672																																																	0			20						C	VAL/ALA	0,4014		0,0,2007	29.0	38.0	35.0		2741	3.3	0.0	20		35	2,8314		0,2,4156	no	missense	MYH7B	NM_020884.3	64	0,2,6163	TT,TC,CC		0.0241,0.0,0.0162	benign	914/1984	33582119	2,12328	2007	4158	6165	33045780	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2741C>T	20.37:g.33582119C>T	ENSP00000262873:p.Ala914Val	Somatic		Capture	Illumina HiSeq	Phase_I	33045780	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150006	0.57151	0.0	2.41E-4	ENSG00000078814	ENST00000262873	D	0.83163	-1.69	4.32	3.3	0.37823	.	0.425278	0.17358	N	0.177128	T	0.73521	0.3597	L	0.38175	1.15	0.22412	N	0.999123	B	0.23806	0.091	B	0.04013	0.001	T	0.67256	-0.5716	10	0.72032	D	0.01	.	10.038	0.42139	0.4003:0.5997:0.0:0.0	.	872	A7E2Y1	MYH7B_HUMAN	V	914	ENSP00000262873:A914V	ENSP00000262873:A914V	A	+	2	0	MYH7B	33045780	0.867000	0.29959	0.006000	0.13384	0.854000	0.48673	4.412000	0.59787	2.409000	0.81822	0.655000	0.94253	GCG		MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
CHD6	84181	hgsc.bcm.edu	37	20	40112055	40112055	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:40112055T>A	ENST00000373233.3	-	16	2539	c.2362A>T	c.(2362-2364)Att>Ttt	p.I788F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	788	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTTTATCAATCAACACAAGC	0.483																																																	0			20											113.0	104.0	107.0					20																	40112055		2203	4300	6503	39545469	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2362A>T	20.37:g.40112055T>A	ENSP00000362330:p.Ile788Phe	Somatic		Capture	Illumina HiSeq	Phase_I	39545469	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	31	5.104095	0.94245	.	.	ENSG00000124177	ENST00000373233	T	0.77750	-1.12	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000010	T	0.79399	0.4439	N	0.16098	0.37	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	D	0.83398	0.0021	10	0.87932	D	0	-14.0533	16.3634	0.83296	0.0:0.0:0.0:1.0	.	788	Q8TD26	CHD6_HUMAN	F	788	ENSP00000362330:I788F	ENSP00000362330:I788F	I	-	1	0	CHD6	39545469	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.970000	0.88000	2.324000	0.78689	0.533000	0.62120	ATT		CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
SGK2	10110	hgsc.bcm.edu	37	20	42200775	42200775	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:42200775G>T	ENST00000341458.4	+	8	994	c.775G>T	c.(775-777)Gag>Tag	p.E259*	SGK2_ENST00000373077.1_Nonsense_Mutation_p.E198*|SGK2_ENST00000373092.3_Nonsense_Mutation_p.E199*|SGK2_ENST00000426287.1_Nonsense_Mutation_p.E225*|SGK2_ENST00000373100.1_Nonsense_Mutation_p.E199*|SGK2_ENST00000423407.3_Nonsense_Mutation_p.E199*	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> K (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.E259K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGTACCCCTGAGGTAAGCGT	0.547																																																	1	Substitution - Missense(1)	lung(1)	20											110.0	70.0	84.0					20																	42200775		2164	4194	6358	41634189	SO:0001587	stop_gained	23678			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.775G>T	20.37:g.42200775G>T	ENSP00000340608:p.Glu259*	Somatic		Capture	Illumina HiSeq	Phase_I	41634189	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Nonsense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018956	0.54576	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6308	0.85032	0.0:0.0:1.0:0.0	.	.	.	.	X	199;199;198;198;199;259;225	.	ENSP00000340608:E259X	E	+	1	0	SGK2	41634189	1.000000	0.71417	0.944000	0.38274	0.134000	0.20937	9.662000	0.98603	2.387000	0.81309	0.563000	0.77884	GAG		SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		
SULF2	55959	hgsc.bcm.edu	37	20	46365452	46365452	+	Missense_Mutation	SNP	C	C	T	rs562017382	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:46365452C>T	ENST00000359930.4	-	3	1261	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000484875.1_Missense_Mutation_p.R137Q|SULF2_ENST00000467815.1_Missense_Mutation_p.R137Q|SULF2_ENST00000361612.4_Missense_Mutation_p.R137Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	137					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTCACCTGTCCGGTAGCCAGT	0.617													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15068	0.0		0.0	False		,,,				2504	0.001																0			20											92.0	69.0	77.0					20																	46365452		2203	4300	6503	45798859	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.410G>A	20.37:g.46365452C>T	ENSP00000353007:p.Arg137Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45798859	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620982	0.96660	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95	5.24	5.24	0.73138	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	0.967;1.0;1.0	P;D;D	0.91635	0.57;0.999;0.999	D	0.98824	1.0748	10	0.39692	T	0.17	-17.1006	18.8085	0.92048	0.0:1.0:0.0:0.0	.	137;137;137	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	Q	137	ENSP00000353007:R137Q;ENSP00000418290:R137Q;ENSP00000354662:R137Q;ENSP00000418442:R137Q;ENSP00000410026:R137Q	ENSP00000353007:R137Q	R	-	2	0	SULF2	45798859	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.814000	0.86154	2.444000	0.82710	0.561000	0.74099	CGG		SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
SLCO4A1	28231	hgsc.bcm.edu	37	20	61288175	61288175	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr20:61288175C>A	ENST00000370507.1	+	1	465	c.369C>A	c.(367-369)ttC>ttA	p.F123L	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.F123L			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	123					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGAATGGCTTCATCAACACAG	0.622																																					Pancreas(168;741 2006 10379 40139 45334)												0			20											51.0	49.0	50.0					20																	61288175		2203	4300	6503	60758620	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.369C>A	20.37:g.61288175C>A	ENSP00000359538:p.Phe123Leu	Somatic		Capture	Illumina HiSeq	Phase_I	60758620	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	0.957	-0.704573	0.03255	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.35421	1.31;1.31	4.58	1.2	0.21068	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.114616	0.64402	N	0.000014	T	0.18551	0.0445	N	0.21448	0.665	0.47737	D	0.999505	B	0.10296	0.003	B	0.19666	0.026	T	0.11567	-1.0582	10	0.09590	T	0.72	.	6.244	0.20807	0.0:0.5515:0.2878:0.1607	.	123	Q96BD0	SO4A1_HUMAN	L	123	ENSP00000217159:F123L;ENSP00000359538:F123L	ENSP00000217159:F123L	F	+	3	2	SLCO4A1	60758620	1.000000	0.71417	0.905000	0.35620	0.075000	0.17131	1.584000	0.36589	-0.026000	0.13895	0.462000	0.41574	TTC		SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354	
EP300	2033	hgsc.bcm.edu	37	22	41572266	41572266	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr22:41572266C>T	ENST00000263253.7	+	30	6014	c.4795C>T	c.(4795-4797)Cgc>Tgc	p.R1599C	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1599	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTTTGTGATCCGCCTCATTGC	0.537			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											118.0	115.0	116.0					22																	41572266		2203	4300	6503	39902212	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4795C>T	22.37:g.41572266C>T	ENSP00000263253:p.Arg1599Cys	Somatic		Capture	Illumina HiSeq	Phase_I	39902212	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405047	0.62288	.	.	ENSG00000100393	ENST00000263253	D	0.93906	-3.31	5.03	5.03	0.67393	.	0.000000	0.49916	D	0.000137	D	0.96932	0.8998	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97424	1.0011	10	0.72032	D	0.01	-9.23	18.7274	0.91718	0.0:1.0:0.0:0.0	.	1599	Q09472	EP300_HUMAN	C	1599	ENSP00000263253:R1599C	ENSP00000263253:R1599C	R	+	1	0	EP300	39902212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.500000	0.84329	0.650000	0.86243	CGC		EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EP300	2033	hgsc.bcm.edu	37	22	41574238	41574238	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr22:41574238A>G	ENST00000263253.7	+	31	7742	c.6523A>G	c.(6523-6525)Atg>Gtg	p.M2175V	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2175	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.M2175L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCACAACACCATGCCTTCACA	0.582			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	22											95.0	77.0	83.0					22																	41574238		2203	4300	6503	39904184	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6523A>G	22.37:g.41574238A>G	ENSP00000263253:p.Met2175Val	Somatic		Capture	Illumina HiSeq	Phase_I	39904184	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	5.761	0.324848	0.10900	.	.	ENSG00000100393	ENST00000263253	D	0.82711	-1.64	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000024	T	0.77164	0.4090	L	0.47716	1.5	0.34005	D	0.650724	B	0.13145	0.007	B	0.09377	0.004	T	0.77104	-0.2711	10	0.21540	T	0.41	-7.3167	14.0417	0.64678	1.0:0.0:0.0:0.0	.	2175	Q09472	EP300_HUMAN	V	2175	ENSP00000263253:M2175V	ENSP00000263253:M2175V	M	+	1	0	EP300	39904184	1.000000	0.71417	0.997000	0.53966	0.703000	0.40648	4.923000	0.63412	1.915000	0.55452	0.459000	0.35465	ATG		EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EP300	2033	hgsc.bcm.edu	37	22	41574377	41574377	+	Missense_Mutation	SNP	C	C	T	rs28937578		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr22:41574377C>T	ENST00000263253.7	+	31	7881	c.6662C>T	c.(6661-6663)cCa>cTa	p.P2221L	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2221	Interaction with NCOA2.		P -> Q (in a colorectal cancer sample; dbSNP:rs28937578). {ECO:0000269|PubMed:10700188}.		apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.P2221Q(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCTACCCACCACAGCAGCAG	0.567			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	1	Substitution - Missense(1)	large_intestine(1)	22											58.0	58.0	58.0					22																	41574377		2203	4300	6503	39904323	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6662C>T	22.37:g.41574377C>T	ENSP00000263253:p.Pro2221Leu	Somatic		Capture	Illumina HiSeq	Phase_I	39904323	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	1.481	-0.557238	0.03967	.	.	ENSG00000100393	ENST00000263253	D	0.83075	-1.68	5.5	3.21	0.36854	.	0.310466	0.22716	N	0.056503	T	0.72162	0.3426	L	0.29908	0.895	0.24516	N	0.994187	B	0.15141	0.012	B	0.08055	0.003	T	0.62651	-0.6809	10	0.42905	T	0.14	.	11.1262	0.48320	0.2597:0.7403:0.0:0.0	.	2221	Q09472	EP300_HUMAN	L	2221	ENSP00000263253:P2221L	ENSP00000263253:P2221L	P	+	2	0	EP300	39904323	0.933000	0.31639	0.180000	0.23079	0.223000	0.24884	1.193000	0.32162	2.581000	0.87130	0.655000	0.94253	CCA		EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
PPP6R2	9701	hgsc.bcm.edu	37	22	50879368	50879368	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr22:50879368C>T	ENST00000216061.5	+	23	2883	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	PPP6R2_ENST00000395741.3_Missense_Mutation_p.A805V|PPP6R2_ENST00000359139.3_Missense_Mutation_p.A805V|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A804V			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	838						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAGAAGGCAGCGAGTGCCATG	0.692																																																	0			22											40.0	43.0	42.0					22																	50879368		2203	4300	6503	49226234	SO:0001583	missense	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2513C>T	22.37:g.50879368C>T	ENSP00000216061:p.Ala838Val	Somatic		Capture	Illumina HiSeq	Phase_I	49226234	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37		.	.	.	.	.	.	.	.	.	.	C	12.49	1.954248	0.34471	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.74	-0.706	0.11249	.	1.930550	0.04326	N	0.351527	T	0.25901	0.0631	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.19935	0.04;0.031;0.018;0.031;0.013;0.031	B;B;B;B;B;B	0.15484	0.013;0.01;0.004;0.004;0.004;0.006	T	0.18524	-1.0334	10	0.34782	T	0.22	-1.3176	2.569	0.04790	0.19:0.4364:0.2248:0.1488	.	364;831;838;805;804;805	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	V	805;805;804;838	ENSP00000352051:A805V;ENSP00000379090:A805V;ENSP00000379093:A804V;ENSP00000216061:A838V	ENSP00000216061:A838V	A	+	2	0	PPP6R2	49226234	0.011000	0.17503	0.001000	0.08648	0.033000	0.12548	0.067000	0.14510	0.322000	0.23283	0.491000	0.48974	GCG		PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678	
OR11H12	440153	hgsc.bcm.edu	37	14	19377700	19377700	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:19377700G>T	ENST00000550708.1	+	1	179	c.107G>T	c.(106-108)tGg>tTg	p.W36L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W36*(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTGTGAGTGGACAATTCAG	0.433																																																	1	Substitution - Nonsense(1)	ovary(1)	14											67.0	68.0	68.0					14																	19377700		2199	4296	6495	18447700	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.107G>T	14.37:g.19377700G>T	ENSP00000449002:p.Trp36Leu	Somatic		Capture	Illumina HiSeq	Phase_I	18447700		Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	2.826	-0.243683	0.05906	.	.	ENSG00000257115	ENST00000550708	T	0.00892	5.57	.	.	.	.	0.431515	0.17171	U	0.184292	T	0.00754	0.0025	L	0.35288	1.05	0.26066	N	0.981283	B	0.06786	0.001	B	0.09377	0.004	T	0.33471	-0.9867	8	0.09084	T	0.74	.	6.4784	0.22049	2.0E-4:0.0:0.9998:0.0	.	36	B2RN74	O11HC_HUMAN	L	36	ENSP00000449002:W36L	ENSP00000449002:W36L	W	+	2	0	CR383656.1	18447700	0.000000	0.05858	0.593000	0.28771	0.151000	0.21798	-2.602000	0.00891	0.413000	0.25759	0.064000	0.15345	TGG		OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354	
OR4K14	122740	hgsc.bcm.edu	37	14	20482572	20482572	+	Missense_Mutation	SNP	G	G	A	rs181398214		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:20482572G>A	ENST00000305045.2	-	1	780	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTGAAAGGCCGCACATAAACA	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)	14											103.0	89.0	94.0					14																	20482572		2203	4300	6503	19552412	SO:0001583	missense	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.781C>T	14.37:g.20482572G>A	ENSP00000305011:p.Arg261Trp	Somatic		Capture	Illumina HiSeq	Phase_I	19552412	Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	CCDS32027.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	0.005	-2.176952	0.00312	.	.	ENSG00000169484	ENST00000305045	T	0.37915	1.17	3.87	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.173086	0.28192	N	0.016253	T	0.12220	0.0297	N	0.05351	-0.065	0.20873	N	0.999837	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	10	0.02654	T	1	.	2.6295	0.04940	0.5867:0.0:0.2175:0.1958	.	261	Q8NGD5	OR4KE_HUMAN	W	261	ENSP00000305011:R261W	ENSP00000305011:R261W	R	-	1	2	OR4K14	19552412	0.002000	0.14202	0.990000	0.47175	0.329000	0.28539	0.950000	0.29122	0.557000	0.29117	-0.431000	0.05894	CGG		OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1		
OR4N5	390437	hgsc.bcm.edu	37	14	20612745	20612745	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:20612745C>T	ENST00000333629.1	+	1	851	c.851C>T	c.(850-852)cCt>cTt	p.P284L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284H(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTGATGAACCCTGTTATTTAT	0.408																																																	1	Substitution - Missense(1)	ovary(1)	14											117.0	117.0	117.0					14																	20612745		2203	4300	6503	19682585	SO:0001583	missense	390437				CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.851C>T	14.37:g.20612745C>T	ENSP00000332110:p.Pro284Leu	Somatic		Capture	Illumina HiSeq	Phase_I	19682585	Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550088	0.65311	.	.	ENSG00000184394	ENST00000333629	T	0.63417	-0.04	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000563	D	0.83677	0.5306	H	0.94658	3.565	0.49915	D	0.999838	D	0.89917	1.0	D	0.91635	0.999	D	0.88383	0.3003	10	0.87932	D	0	.	13.9851	0.64328	0.0:1.0:0.0:0.0	.	284	Q8IXE1	OR4N5_HUMAN	L	284	ENSP00000332110:P284L	ENSP00000332110:P284L	P	+	2	0	OR4N5	19682585	0.975000	0.34042	1.000000	0.80357	0.959000	0.62525	4.159000	0.58157	2.219000	0.72066	0.655000	0.94253	CCT		OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1		
RNASE13	440163	hgsc.bcm.edu	37	14	21502341	21502341	+	Missense_Mutation	SNP	C	C	T	rs549619794		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:21502341C>T	ENST00000382951.3	-	2	244	c.107G>A	c.(106-108)aGc>aAc	p.S36N	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	36						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		ATAGTCAATGCTTAAGGTATA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19579	0.0		0.0	False		,,,				2504	0.001																0			14											102.0	93.0	96.0					14																	21502341		2203	4300	6503	20572181	SO:0001583	missense	440163			AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.107G>A	14.37:g.21502341C>T	ENSP00000372410:p.Ser36Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20572181		Missense_Mutation	SNP	ENST00000382951.3	37	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	C	7.965	0.747868	0.15710	.	.	ENSG00000206150	ENST00000382951	T	0.72725	-0.68	5.05	2.59	0.31030	Ribonuclease A, domain (2);	1.282440	0.05333	N	0.528613	T	0.45074	0.1324	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33317	-0.9873	10	0.38643	T	0.18	-7.3868	4.6503	0.12592	0.1669:0.0923:0.0:0.7408	.	36	Q5GAN3	RNS13_HUMAN	N	36	ENSP00000372410:S36N	ENSP00000372410:S36N	S	-	2	0	RNASE13	20572181	0.014000	0.17966	0.000000	0.03702	0.001000	0.01503	0.882000	0.28186	0.341000	0.23771	-0.300000	0.09419	AGC		RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1		
PRKD1	5587	hgsc.bcm.edu	37	14	30046614	30046614	+	Nonsense_Mutation	SNP	C	C	A	rs368061812		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:30046614C>A	ENST00000331968.5	-	18	2798	c.2569G>T	c.(2569-2571)Gag>Tag	p.E857*	PRKD1_ENST00000415220.2_Nonsense_Mutation_p.E865*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	857			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E857K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATGTAGCGCTCCCCGATTTTG	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)	14											131.0	118.0	123.0					14																	30046614		2203	4300	6503	29116365	SO:0001587	stop_gained	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2569G>T	14.37:g.30046614C>A	ENSP00000333568:p.Glu857*	Somatic		Capture	Illumina HiSeq	Phase_I	29116365	A6NL64|B2RAF6	Nonsense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	40	8.034123	0.98621	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-29.324	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	857;865	.	ENSP00000333568:E857X	E	-	1	0	PRKD1	29116365	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG		PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
NPAS3	64067	hgsc.bcm.edu	37	14	33684439	33684439	+	Silent	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:33684439G>T	ENST00000356141.4	+	3	192	c.192G>T	c.(190-192)cgG>cgT	p.R64R	NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000341321.4_Silent_p.R64R|NPAS3_ENST00000551492.1_Silent_p.R71R|NPAS3_ENST00000357798.5_Silent_p.R34R|NPAS3_ENST00000548645.1_Silent_p.R34R|NPAS3_ENST00000346562.2_Silent_p.R34R			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	64	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R34R(2)|p.R64R(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCTCCCGCCGGGGAAAAGAAA	0.458																																																	3	Substitution - coding silent(3)	lung(3)	14											68.0	73.0	72.0					14																	33684439		2203	4300	6503	32754190	SO:0001819	synonymous_variant	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.192G>T	14.37:g.33684439G>T		Somatic		Capture	Illumina HiSeq	Phase_I	32754190	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	CCDS53891.1																																																																																				NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
MDGA2	161357	hgsc.bcm.edu	37	14	47530617	47530617	+	Silent	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:47530617G>T	ENST00000399232.2	-	7	1517	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R	MDGA2_ENST00000439988.3_Silent_p.R454R|MDGA2_ENST00000357362.3_Silent_p.R156R|MDGA2_ENST00000426342.1_Silent_p.R156R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATGACCATCCGCTCAGAACTT	0.418																																																	0			14											155.0	140.0	145.0					14																	47530617		1895	4112	6007	46600367	SO:0001819	synonymous_variant	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1153C>A	14.37:g.47530617G>T		Somatic		Capture	Illumina HiSeq	Phase_I	46600367	F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	8.092	0.774805	0.16051	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.64	1.35	0.21983	.	.	.	.	.	T	0.68348	0.2991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66571	-0.5890	4	.	.	.	.	14.7054	0.69186	0.0:0.0:0.2732:0.7268	.	.	.	.	E	159	.	.	A	-	2	0	MDGA2	46600367	0.999000	0.42202	0.996000	0.52242	0.995000	0.86356	1.688000	0.37690	0.261000	0.21753	-0.274000	0.10170	GCG		MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
DAAM1	23002	hgsc.bcm.edu	37	14	59821990	59821990	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:59821990G>A	ENST00000395125.1	+	20	2517	c.2494G>A	c.(2494-2496)Gca>Aca	p.A832T	DAAM1_ENST00000351081.1_Missense_Mutation_p.A832T|DAAM1_ENST00000360909.3_Missense_Mutation_p.A822T|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	832	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AAGAGGGAATGCATATGGATT	0.433																																																	0			14											148.0	137.0	140.0					14																	59821990		2203	4300	6503	58891743	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2494G>A	14.37:g.59821990G>A	ENSP00000378557:p.Ala832Thr	Somatic		Capture	Illumina HiSeq	Phase_I	58891743	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	36	5.644441	0.96704	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.36157	1.27;1.27;1.27	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.092055	0.85682	D	0.000000	T	0.65144	0.2663	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62539	-0.6833	10	0.44086	T	0.13	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	822;832	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	T	822;832;801;832	ENSP00000354162:A822T;ENSP00000247170:A832T;ENSP00000378557:A832T	ENSP00000247170:A832T	A	+	1	0	DAAM1	58891743	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.813000	0.99286	2.906000	0.99361	0.655000	0.94253	GCA		DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
LMNB2	84823	hgsc.bcm.edu	37	19	2432464	2432464	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:2432464C>T	ENST00000582871.1	-	9	1566	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Missense_Mutation_p.A514T	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	494	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		AACTTGTAGGCGATCTCCTCC	0.627																																																	0			19											317.0	235.0	263.0					19																	2432464		2203	4300	6503	2383464	SO:0001583	missense	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1480G>A	19.37:g.2432464C>T	ENSP00000462730:p.Ala494Thr	Somatic		Capture	Illumina HiSeq	Phase_I	2383464	O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37		.	.	.	.	.	.	.	.	.	.	C	4.770	0.143089	0.09083	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.11	3.04	0.35103	Intermediate filament, C-terminal (1);	0.278905	0.35320	N	0.003288	T	0.23926	0.0579	N	0.03948	-0.315	0.41091	D	0.985594	B	0.09022	0.002	B	0.13407	0.009	T	0.21348	-1.0248	9	0.02654	T	1	.	11.6124	0.51069	0.1799:0.8201:0.0:0.0	.	494	Q03252	LMNB2_HUMAN	T	494	.	ENSP00000327054:A494T	A	-	1	0	LMNB2	2383464	0.438000	0.25602	0.894000	0.35097	0.601000	0.36947	0.740000	0.26188	0.698000	0.31739	0.555000	0.69702	GCC		LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737	
ZNF77	58492	hgsc.bcm.edu	37	19	2933603	2933603	+	Missense_Mutation	SNP	G	G	T	rs553602761|rs565530193	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:2933603G>T	ENST00000314531.4	-	4	1614	c.1522C>A	c.(1522-1524)Cgt>Agt	p.R508S		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	508					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(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTGCACACGAAGGGACGAG	0.498																																																	0			19											213.0	176.0	189.0					19																	2933603		2203	4300	6503	2884603	SO:0001583	missense	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1522C>A	19.37:g.2933603G>T	ENSP00000319053:p.Arg508Ser	Somatic		Capture	Illumina HiSeq	Phase_I	2884603	Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	8.653	0.898760	0.17686	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.07567	3.18	2.56	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	N	0.22421	0.69	0.09310	N	1	P	0.34662	0.462	B	0.32289	0.143	T	0.42292	-0.9460	9	0.08381	T	0.77	.	5.4716	0.16672	0.0:0.181:0.2699:0.5491	.	508	Q15935	ZNF77_HUMAN	S	302;508	ENSP00000319053:R508S	ENSP00000319053:R508S	R	-	1	0	ZNF77	2884603	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.301000	0.19174	-0.017000	0.14103	-0.500000	0.04577	CGT		ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217	
ZNF675	171392	hgsc.bcm.edu	37	19	23837046	23837046	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:23837046C>T	ENST00000359788.4	-	4	857	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	230					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTGACATTTGTAGAG	0.308																																																	0			19											51.0	53.0	52.0					19																	23837046		2201	4296	6497	23628886	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.689G>A	19.37:g.23837046C>T	ENSP00000352836:p.Cys230Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	23628886	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	12.66	2.003977	0.35320	.	.	ENSG00000197372	ENST00000359788	T	0.38560	1.13	0.916	0.916	0.19373	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57548	0.2061	M	0.88570	2.965	0.38238	D	0.941234	P	0.46912	0.886	P	0.52823	0.71	T	0.64084	-0.6490	9	0.66056	D	0.02	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	230	Q8TD23	ZN675_HUMAN	Y	230	ENSP00000352836:C230Y	ENSP00000352836:C230Y	C	-	2	0	ZNF675	23628886	0.985000	0.35326	0.280000	0.24747	0.278000	0.26855	4.786000	0.62425	0.300000	0.22699	0.305000	0.20034	TGT		ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
FCGBP	8857	hgsc.bcm.edu	37	19	40408823	40408823	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:40408823G>T	ENST00000221347.6	-	8	4023	c.4016C>A	c.(4015-4017)cCc>cAc	p.P1339H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1339	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.P1339H(1)		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)			CAGCACCACGGGCAGCTTCAT	0.577																																																	1	Substitution - Missense(1)	central_nervous_system(1)	19											23.0	19.0	20.0					19																	40408823		2203	4299	6502	45100663	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.4016C>A	19.37:g.40408823G>T	ENSP00000221347:p.Pro1339His	Somatic		Capture	Illumina HiSeq	Phase_I	45100663	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919525	0.52653	.	.	ENSG00000090920	ENST00000221347	T	0.65916	-0.18	4.95	4.95	0.65309	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000001	D	0.83450	0.5257	M	0.91510	3.215	0.35633	D	0.810356	D	0.89917	1.0	D	0.83275	0.996	D	0.90644	0.4577	10	0.87932	D	0	.	16.9545	0.86254	0.0:0.0:1.0:0.0	.	1339	Q9Y6R7	FCGBP_HUMAN	H	1339	ENSP00000221347:P1339H	ENSP00000221347:P1339H	P	-	2	0	FCGBP	45100663	1.000000	0.71417	0.071000	0.20095	0.035000	0.12851	9.317000	0.96327	2.302000	0.77476	0.650000	0.86243	CCC		FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
PPP1R15A	23645	hgsc.bcm.edu	37	19	49377167	49377167	+	Missense_Mutation	SNP	A	A	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:49377167A>T	ENST00000200453.5	+	2	946	c.677A>T	c.(676-678)gAg>gTg	p.E226V		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	226	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TGCCCAGGGGAGGAAGAGAAT	0.537																																																	0			19											85.0	95.0	92.0					19																	49377167		2203	4300	6503	54068979	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.677A>T	19.37:g.49377167A>T	ENSP00000200453:p.Glu226Val	Somatic		Capture	Illumina HiSeq	Phase_I	54068979	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.780487	0.90195	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.04156	3.69	4.29	4.29	0.51040	.	0.527164	0.17749	N	0.163289	T	0.16471	0.0396	M	0.64997	1.995	0.35384	D	0.790131	D	0.76494	0.999	D	0.76071	0.987	T	0.05818	-1.0862	10	0.62326	D	0.03	-3.959	10.0106	0.41984	1.0:0.0:0.0:0.0	.	226	O75807	PR15A_HUMAN	V	226;66;184	ENSP00000200453:E226V	ENSP00000200453:E226V	E	+	2	0	PPP1R15A	54068979	0.831000	0.29352	0.276000	0.24689	0.632000	0.37999	1.527000	0.35975	1.931000	0.55961	0.459000	0.35465	GAG		PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330	
SYT3	84258	hgsc.bcm.edu	37	19	51135614	51135614	+	Silent	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:51135614C>A	ENST00000338916.4	-	2	1236	c.603G>T	c.(601-603)ctG>ctT	p.L201L	SYT3_ENST00000593901.1_Silent_p.L201L|SYT3_ENST00000544769.1_Silent_p.L201L|SYT3_ENST00000600079.1_Silent_p.L201L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	201					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CACTGGGGGGCAGCAGGAGCA	0.652																																																	0			19											43.0	46.0	45.0					19																	51135614		2203	4300	6503	55827426	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.603G>T	19.37:g.51135614C>A		Somatic		Capture	Illumina HiSeq	Phase_I	55827426	Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	CCDS12798.1																																																																																				SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298	
ZNF841	284371	hgsc.bcm.edu	37	19	52569529	52569529	+	Missense_Mutation	SNP	T	T	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:52569529T>G	ENST00000426391.2	-	5	1809	c.1258A>C	c.(1258-1260)Acc>Ccc	p.T420P	CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000389534.4_Missense_Mutation_p.T536P|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.T536P			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	420					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)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TTCTCTCCGGTATGAATTCTC	0.398																																																	0			19											89.0	83.0	85.0					19																	52569529		692	1591	2283	57261341	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1258A>C	19.37:g.52569529T>G	ENSP00000415453:p.Thr420Pro	Somatic		Capture	Illumina HiSeq	Phase_I	57261341	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37		.	.	.	.	.	.	.	.	.	.	T	17.48	3.401170	0.62288	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.25749	1.78;1.78	1.85	1.85	0.25348	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42966	0.1226	M	0.74546	2.27	0.80722	D	1	D;D	0.65815	0.989;0.995	D;D	0.72625	0.978;0.942	T	0.38585	-0.9654	9	0.87932	D	0	.	4.0884	0.09958	0.3152:0.0:0.0:0.6848	.	536;420	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	P	536;420	ENSP00000374185:T536P;ENSP00000415453:T420P	ENSP00000374185:T536P	T	-	1	0	ZNF841	57261341	0.001000	0.12720	0.024000	0.17045	0.760000	0.43138	0.267000	0.18552	1.110000	0.41699	0.260000	0.18958	ACC		ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155	
ZNF468	90333	hgsc.bcm.edu	37	19	53344345	53344345	+	Missense_Mutation	SNP	T	T	C	rs570708838		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:53344345T>C	ENST00000595646.1	-	4	1322	c.1202A>G	c.(1201-1203)cAt>cGt	p.H401R	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.H348R|ZNF468_ENST00000396409.4_Missense_Mutation_p.H348R|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AATCCTCCTATGTCTTTCAAG	0.403																																																	0			19											104.0	104.0	104.0					19																	53344345		2203	4300	6503	58036157	SO:0001583	missense	388561			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1202A>G	19.37:g.53344345T>C	ENSP00000470381:p.His401Arg	Somatic		Capture	Illumina HiSeq	Phase_I	58036157	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	15.22	2.767426	0.49574	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	D;D	0.86865	-2.18;-2.18	1.88	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94876	0.8344	H	0.96889	3.9	0.29191	N	0.87584	D	0.89917	1.0	D	0.91635	0.999	D	0.87966	0.2733	9	0.87932	D	0	.	8.5573	0.33489	0.0:0.0:0.0:1.0	.	401	Q5VIY5	ZN468_HUMAN	R	401;348;348;151	ENSP00000379690:H348R;ENSP00000445669:H348R	ENSP00000243639:H401R	H	-	2	0	ZNF468	58036157	1.000000	0.71417	0.007000	0.13788	0.044000	0.14063	6.312000	0.72840	0.863000	0.35553	0.336000	0.21669	CAT		ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801	
KIR3DL3	115653	hgsc.bcm.edu	37	19	55239242	55239242	+	Missense_Mutation	SNP	C	C	T	rs367886097		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:55239242C>T	ENST00000291860.1	+	4	539	c.521C>T	c.(520-522)gCg>gTg	p.A174V	KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	174	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A174V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCACGATGCGGGTTCCCAG	0.547																																																	1	Substitution - Missense(1)	ovary(1)	19						C	VAL/ALA	1,3955		0,1,1977	105.0	88.0	95.0		521	-2.8	0.0	19		95	0,6878		0,0,3439	no	missense	KIR3DL3	NM_153443.3	64	0,1,5416	TT,TC,CC		0.0,0.0253,0.0092	possibly-damaging	174/411	55239242	1,10833	1978	3439	5417	59931054	SO:0001583	missense	115653			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.521C>T	19.37:g.55239242C>T	ENSP00000291860:p.Ala174Val	Somatic		Capture	Illumina HiSeq	Phase_I	59931054	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.439250	0.25900	2.53E-4	0.0	ENSG00000242019	ENST00000291860	T	0.02787	4.16	1.38	-2.75	0.05914	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02807	0.0084	L	0.31664	0.95	0.09310	N	1	D	0.57571	0.98	P	0.46389	0.515	T	0.36407	-0.9749	9	0.87932	D	0	.	4.6375	0.12531	0.1785:0.2293:0.5921:0.0	.	174	Q8N743	KI3L3_HUMAN	V	174	ENSP00000291860:A174V	ENSP00000291860:A174V	A	+	2	0	KIR3DL3	59931054	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	-0.073000	0.11468	-0.758000	0.04690	-2.628000	0.00155	GCG		KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443	
NLRP11	204801	hgsc.bcm.edu	37	19	56329390	56329390	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:56329390C>T	ENST00000589093.1	-	2	244	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.E51K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E51K|NLRP11_ENST00000443188.1_Missense_Mutation_p.E51K			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	51	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTAGCCAGTTCTTCTTTTGTC	0.383																																																	0			19											172.0	159.0	164.0					19																	56329390		2203	4300	6503	61021202	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.151G>A	19.37:g.56329390C>T	ENSP00000466285:p.Glu51Lys	Somatic		Capture	Illumina HiSeq	Phase_I	61021202	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527162	0.27299	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.46063	0.88;0.88	2.84	-0.873	0.10635	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.33904	0.0879	N	0.19112	0.55	0.09310	N	1	B	0.27765	0.188	B	0.43155	0.41	T	0.51044	-0.8755	9	0.52906	T	0.07	.	5.9968	0.19499	0.2063:0.3903:0.4033:0.0	.	51	P59045	NAL11_HUMAN	K	51	ENSP00000409898:E51K;ENSP00000353251:E51K	ENSP00000353251:E51K	E	-	1	0	NLRP11	61021202	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.053000	0.11846	-0.064000	0.13043	-0.155000	0.13514	GAA		NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
ZNF749	388567	hgsc.bcm.edu	37	19	57955798	57955798	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:57955798C>T	ENST00000334181.4	+	3	1532	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	428					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.H341D(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGTTGTTCAGCATCTGAAAAT	0.438																																																	1	Substitution - Missense(1)	ovary(1)	19											90.0	88.0	89.0					19																	57955798		2203	4300	6503	62647610	SO:0001583	missense	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1282C>T	19.37:g.57955798C>T	ENSP00000333980:p.His428Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62647610		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564731	0.45694	.	.	ENSG00000186230	ENST00000334181	D	0.86769	-2.17	1.96	0.9	0.19278	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91509	0.7319	M	0.92880	3.355	0.19575	N	0.999965	D	0.63880	0.993	P	0.52514	0.701	D	0.83406	0.0025	9	0.87932	D	0	.	7.9891	0.30229	0.0:0.8592:0.0:0.1408	.	428	O43361	ZN749_HUMAN	Y	428	ENSP00000333980:H428Y	ENSP00000333980:H428Y	H	+	1	0	ZNF749	62647610	0.970000	0.33590	0.002000	0.10522	0.310000	0.27922	6.083000	0.71326	0.388000	0.25054	0.460000	0.39030	CAT		ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561	
ZNF274	10782	hgsc.bcm.edu	37	19	58697120	58697120	+	Silent	SNP	G	G	A	rs567797622	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:58697120G>A	ENST00000326804.4	+	3	534	c.75G>A	c.(73-75)ccG>ccA	p.P25P	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.P25P|ZNF274_ENST00000424679.2_Intron	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	25	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GTTTTACCCCGGAAGAGTGGG	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		17462	0.001		0.0	False		,,,				2504	0.001																0			19											94.0	103.0	100.0					19																	58697120		2193	4300	6493	63388932	SO:0001819	synonymous_variant	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.75G>A	19.37:g.58697120G>A		Somatic		Capture	Illumina HiSeq	Phase_I	63388932	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37																																																																																					ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502	
ZNF544	27300	hgsc.bcm.edu	37	19	58773427	58773427	+	Silent	SNP	G	G	A	rs145233590	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr19:58773427G>A	ENST00000596652.1	+	6	1689	c.1455G>A	c.(1453-1455)acG>acA	p.T485T	ZNF544_ENST00000600044.1_Silent_p.T457T|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Silent_p.T343T|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Silent_p.T457T|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000269829.4_Silent_p.T485T|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Silent_p.T457T			Q6NX49	ZN544_HUMAN	zinc finger protein 544	485					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ATAAAAGAACGCACACTGGAG	0.428																																																	0			19						G		0,4406		0,0,2203	83.0	85.0	84.0		1455	-4.7	0.0	19	dbSNP_134	84	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ZNF544	NM_014480.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		485/716	58773427	3,13003	2203	4300	6503	63465239	SO:0001819	synonymous_variant	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1455G>A	19.37:g.58773427G>A		Somatic		Capture	Illumina HiSeq	Phase_I	63465239	A8K6J1|Q9UEX4	Silent	SNP	ENST00000596652.1	37	CCDS12973.1																																																																																				ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
PRKDC	5591	hgsc.bcm.edu	37	8	48794060	48794060	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr8:48794060T>A	ENST00000314191.2	-	39	5037	c.4981A>T	c.(4981-4983)Aat>Tat	p.N1661Y	PRKDC_ENST00000338368.3_Missense_Mutation_p.N1661Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1662					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.N1662H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGACTTGTATTAAAAGATACA	0.313								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												1	Substitution - Missense(1)	ovary(1)	8											44.0	43.0	43.0					8																	48794060		1818	4062	5880	48956613	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4981A>T	8.37:g.48794060T>A	ENSP00000313420:p.Asn1661Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	48956613	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	15.89	2.966372	0.53507	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65364	-0.15;-0.15	5.43	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.244417	0.40640	N	0.001041	T	0.65637	0.2710	M	0.65975	2.015	0.37673	D	0.923212	D;D	0.55385	0.971;0.971	P;P	0.50617	0.646;0.646	T	0.70927	-0.4739	10	0.72032	D	0.01	.	7.929	0.29891	0.0:0.1605:0.0:0.8395	.	1661;1662	E7EUY0;P78527	.;PRKDC_HUMAN	Y	1661	ENSP00000313420:N1661Y;ENSP00000345182:N1661Y	ENSP00000313420:N1661Y	N	-	1	0	PRKDC	48956613	1.000000	0.71417	0.787000	0.31911	0.598000	0.36846	2.036000	0.41165	0.914000	0.36822	0.523000	0.50628	AAT		PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
UBXN2B	137886	hgsc.bcm.edu	37	8	59358550	59358550	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr8:59358550T>C	ENST00000399598.2	+	7	878	c.756T>C	c.(754-756)gaT>gaC	p.D252D		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	252	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TTATTGATGATTCAGTGCCAA	0.368																																																	0			8											141.0	123.0	129.0					8																	59358550		1859	4091	5950	59521104	SO:0001819	synonymous_variant	137886			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.756T>C	8.37:g.59358550T>C		Somatic		Capture	Illumina HiSeq	Phase_I	59521104	B3KWZ3	Silent	SNP	ENST00000399598.2	37	CCDS43741.1																																																																																				UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619	
TOX	9760	hgsc.bcm.edu	37	8	59750765	59750765	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr8:59750765C>T	ENST00000361421.1	-	5	1019	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	267			A -> T (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.			nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A267T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AACGCATAGGCAGACACAGGC	0.483																																					Pancreas(161;610 1969 17913 21374 22725)												2	Substitution - Missense(2)	kidney(2)	8											111.0	111.0	111.0					8																	59750765		2203	4300	6503	59913319	SO:0001583	missense	9760				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.799G>A	8.37:g.59750765C>T	ENSP00000354842:p.Ala267Thr	Somatic		Capture	Illumina HiSeq	Phase_I	59913319	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589510	0.96590	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.59772	0.24	5.59	5.59	0.84812	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86232	0.1638	9	.	.	.	.	19.5961	0.95538	0.0:1.0:0.0:0.0	.	267	O94900	TOX_HUMAN	T	267;25	ENSP00000354842:A267T	.	A	-	1	0	TOX	59913319	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.621000	0.88768	0.591000	0.81541	GCC		TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
KCNB2	9312	hgsc.bcm.edu	37	8	73848938	73848938	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr8:73848938G>A	ENST00000523207.1	+	3	1936	c.1348G>A	c.(1348-1350)Gtt>Att	p.V450I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	450			V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V450I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CGGAAGCATCGTTTCTATGAA	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)	8											76.0	81.0	79.0					8																	73848938		2203	4300	6503	74011492	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1348G>A	8.37:g.73848938G>A	ENSP00000430846:p.Val450Ile	Somatic		Capture	Illumina HiSeq	Phase_I	74011492	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296133	0.81025	.	.	ENSG00000182674	ENST00000523207	D	0.97279	-4.32	5.74	5.74	0.90152	.	0.178810	0.26620	N	0.023364	D	0.97798	0.9277	M	0.72894	2.215	0.80722	D	1	D	0.57571	0.98	P	0.55391	0.775	D	0.97927	1.0318	10	0.56958	D	0.05	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	450	Q92953	KCNB2_HUMAN	I	450	ENSP00000430846:V450I	ENSP00000430846:V450I	V	+	1	0	KCNB2	74011492	1.000000	0.71417	0.931000	0.37212	0.913000	0.54294	8.022000	0.88759	2.702000	0.92279	0.655000	0.94253	GTT		KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
FER1L6	654463	hgsc.bcm.edu	37	8	125015536	125015536	+	Missense_Mutation	SNP	C	C	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr8:125015536C>G	ENST00000522917.1	+	13	1855	c.1649C>G	c.(1648-1650)cCt>cGt	p.P550R	FER1L6_ENST00000399018.1_Missense_Mutation_p.P550R|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	550						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTCCCATTCCTATGGCCTCC	0.527																																																	0			8											55.0	55.0	55.0					8																	125015536		1957	4151	6108	125084717	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1649C>G	8.37:g.125015536C>G	ENSP00000428280:p.Pro550Arg	Somatic		Capture	Illumina HiSeq	Phase_I	125084717		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923411	0.33908	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82167	-1.58;-1.58	5.46	5.46	0.80206	.	1.065020	0.07395	U	0.889854	D	0.82701	0.5094	L	0.53249	1.67	0.22639	N	0.998906	P	0.39717	0.684	B	0.35727	0.209	T	0.74783	-0.3548	10	0.42905	T	0.14	.	18.9144	0.92499	0.0:1.0:0.0:0.0	.	550	Q2WGJ9	FR1L6_HUMAN	R	550	ENSP00000428280:P550R;ENSP00000381982:P550R	ENSP00000381982:P550R	P	+	2	0	FER1L6	125084717	0.149000	0.22717	0.032000	0.17829	0.459000	0.32528	4.895000	0.63214	2.559000	0.86315	0.655000	0.94253	CCT		FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FAM135B	51059	hgsc.bcm.edu	37	8	139164971	139164971	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr8:139164971C>A	ENST00000395297.1	-	13	1917	c.1747G>T	c.(1747-1749)Gat>Tat	p.D583Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	583										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCATACTTATCTCTAGAGCTC	0.458										HNSCC(54;0.14)																																							0			8											153.0	145.0	148.0					8																	139164971		1900	4119	6019	139234153	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1747G>T	8.37:g.139164971C>A	ENSP00000378710:p.Asp583Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	139234153	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590648	0.46214	.	.	ENSG00000147724	ENST00000395297	T	0.16897	2.31	5.45	3.61	0.41365	.	1.013200	0.07872	N	0.968042	T	0.23727	0.0574	L	0.44542	1.39	0.09310	N	1	D;P;P	0.53462	0.96;0.919;0.779	P;P;B	0.51550	0.673;0.525;0.177	T	0.14727	-1.0462	10	0.62326	D	0.03	-1.7504	7.0725	0.25187	0.0:0.6997:0.1672:0.1331	.	583;583;583	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Y	583	ENSP00000378710:D583Y	ENSP00000276737:D583Y	D	-	1	0	FAM135B	139234153	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.393000	0.20817	1.423000	0.47198	-0.176000	0.13171	GAT		FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
EEF1D	1936	hgsc.bcm.edu	37	8	144663283	144663283	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr8:144663283G>A	ENST00000529272.1	-	5	731	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	EEF1D_ENST00000532741.1_Missense_Mutation_p.R527W|EEF1D_ENST00000526838.1_Missense_Mutation_p.R92W|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000442189.2_Missense_Mutation_p.R477W|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000395119.3_Missense_Mutation_p.R111W|EEF1D_ENST00000531621.1_Missense_Mutation_p.R68W|EEF1D_ENST00000524624.1_Missense_Mutation_p.R87W|EEF1D_ENST00000532400.1_Intron|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000423316.2_Missense_Mutation_p.R477W|EEF1D_ENST00000317198.6_Missense_Mutation_p.R111W|EEF1D_ENST00000528610.1_Missense_Mutation_p.R87W|EEF1D_ENST00000419152.2_Missense_Mutation_p.R111W|NAPRT1_ENST00000276844.7_5'Flank			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	111	Leucine-zipper.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACGTTCAGCCGGGCCTCCAGC	0.677																																																	0			8											42.0	43.0	43.0					8																	144663283		2203	4298	6501	144734426	SO:0001583	missense	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.331C>T	8.37:g.144663283G>A	ENSP00000434872:p.Arg111Trp	Somatic		Capture	Illumina HiSeq	Phase_I	144734426	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512686	0.85389	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749	.	.	.	4.8	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.79311	0.4424	M	0.87827	2.91	0.80722	D	1	P;D;D;B;D;D	0.89917	0.877;1.0;0.999;0.203;1.0;1.0	B;D;P;B;D;D	0.97110	0.232;0.997;0.908;0.022;1.0;0.999	T	0.81988	-0.0680	9	0.87932	D	0	.	10.9683	0.47424	0.0:0.0:0.6466:0.3533	.	92;477;405;111;527;477	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	W	111;527;92;477;87;111;111;477;405;111;477;68;87;111;87;111;111;111;111;111;92;127	.	ENSP00000317399:R111W	R	-	1	2	EEF1D	144734426	0.987000	0.35691	1.000000	0.80357	0.926000	0.56050	1.877000	0.39598	1.110000	0.41699	0.455000	0.32223	CGG		EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378	
IGSF21	84966	hgsc.bcm.edu	37	1	18704793	18704793	+	Silent	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:18704793C>T	ENST00000251296.1	+	10	1760	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	459						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGTGCTCGCCCTGACAGTGA	0.577																																																	0			1											52.0	47.0	49.0					1																	18704793		2203	4300	6503	18577380	SO:0001819	synonymous_variant	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1377C>T	1.37:g.18704793C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18577380	Q8NBR8	Silent	SNP	ENST00000251296.1	37	CCDS184.1																																																																																				IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880	
STK40	83931	hgsc.bcm.edu	37	1	36820980	36820980	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:36820980T>C	ENST00000373129.3	-	6	803	c.397A>G	c.(397-399)Atg>Gtg	p.M133V	STK40_ENST00000373132.3_Missense_Mutation_p.M133V|STK40_ENST00000373130.3_Missense_Mutation_p.M138V|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000359297.2_Missense_Mutation_p.M133V	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> T (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CGCTTCTTCATCTTCTTAACC	0.557																																																	0			1											279.0	245.0	257.0					1																	36820980		2203	4300	6503	36593567	SO:0001583	missense	83931			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.397A>G	1.37:g.36820980T>C	ENSP00000362221:p.Met133Val	Somatic		Capture	Illumina HiSeq	Phase_I	36593567	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	CCDS407.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156425	0.38119	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.61980	0.09;0.06;0.09;0.09	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.035482	0.85682	D	0.000000	T	0.34135	0.0887	N	0.00707	-1.245	0.45390	D	0.998377	B;B;B	0.19706	0.038;0.0;0.0	B;B;B	0.24541	0.054;0.0;0.0	T	0.36939	-0.9727	10	0.42905	T	0.14	-25.2794	15.5237	0.75885	0.0:0.0:0.0:1.0	.	133;138;133	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	V	133;133;138;133	ENSP00000362221:M133V;ENSP00000352245:M133V;ENSP00000362222:M138V;ENSP00000362224:M133V	ENSP00000352245:M133V	M	-	1	0	STK40	36593567	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.742000	0.62103	2.263000	0.75096	0.379000	0.24179	ATG		STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017	
MRPS15	64960	hgsc.bcm.edu	37	1	36921912	36921912	+	Missense_Mutation	SNP	C	C	A	rs80215530	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:36921912C>A	ENST00000373116.5	-	7	673	c.512G>T	c.(511-513)cGt>cTt	p.R171L	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	171					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R171H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTGGTGTTACGGAGGTTTTT	0.453													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19207	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)	1						C	LEU/ARG	9,4397	16.8+/-37.8	0,9,2194	94.0	89.0	90.0		512	6.1	1.0	1	dbSNP_132	90	0,8600		0,0,4300	yes	missense	MRPS15	NM_031280.3	102	0,9,6494	AA,AC,CC		0.0,0.2043,0.0692	probably-damaging	171/258	36921912	9,12997	2203	4300	6503	36694499	SO:0001583	missense	64960			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.512G>T	1.37:g.36921912C>A	ENSP00000362208:p.Arg171Leu	Somatic		Capture	Illumina HiSeq	Phase_I	36694499	B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	CCDS411.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	35	5.462032	0.96240	0.002043	0.0	ENSG00000116898	ENST00000373116	.	.	.	6.06	6.06	0.98353	S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88097	0.2817	9	0.87932	D	0	-26.9014	19.1847	0.93639	0.0:1.0:0.0:0.0	.	171	P82914	RT15_HUMAN	L	171	.	ENSP00000362208:R171L	R	-	2	0	MRPS15	36694499	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	7.113000	0.77095	2.882000	0.98803	0.655000	0.94253	CGT		MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280	
SZT2	23334	hgsc.bcm.edu	37	1	43909272	43909272	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:43909272G>A	ENST00000562955.1	+	61	8459	c.8459G>A	c.(8458-8460)cGc>cAc	p.R2820H	SZT2_ENST00000372442.1_Missense_Mutation_p.R1978H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2877					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCATAGCGGCGCCATCGCCCT	0.612																																																	0			1											57.0	59.0	58.0					1																	43909272		2203	4300	6503	43681859	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8459G>A	1.37:g.43909272G>A	ENSP00000457168:p.Arg2820His	Somatic		Capture	Illumina HiSeq	Phase_I	43681859	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681772	0.68042	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.36	5.36	0.76844	.	0.054620	0.64402	D	0.000001	T	0.33933	0.0880	L	0.43152	1.355	0.30131	N	0.804793	P	0.49559	0.925	B	0.38327	0.271	T	0.49011	-0.8983	9	0.66056	D	0.02	.	12.4901	0.55895	0.0765:0.0:0.9235:0.0	.	2820	Q5T011-5	.	H	1978	.	ENSP00000361519:R1978H	R	+	2	0	SZT2	43681859	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	8.195000	0.89723	2.514000	0.84764	0.650000	0.86243	CGC		SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
TMEM53	79639	hgsc.bcm.edu	37	1	45120664	45120664	+	Missense_Mutation	SNP	C	C	T	rs35524791	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:45120664C>T	ENST00000372237.3	-	3	564	c.401G>A	c.(400-402)cGc>cAc	p.R134H	TMEM53_ENST00000372242.3_Missense_Mutation_p.R134H|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.R104H|TMEM53_ENST00000372244.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	134						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CACACGCAGGCGGCAGAAGCG	0.652													T|||	22	0.00439297	0.0159	0.0014	5008	,	,		18857	0.0		0.0	False		,,,				2504	0.0																0			1						T	HIS/ARG	59,4347	818.5+/-416.3	1,57,2145	39.0	39.0	39.0		401	3.3	1.0	1	dbSNP_126	39	1,8599	816.5+/-406.9	0,1,4299	no	missense	TMEM53	NM_024587.2	29	1,58,6444	TT,TC,CC		0.0116,1.3391,0.4613	benign	134/278	45120664	60,12946	2203	4300	6503	44893251	SO:0001583	missense	79639				CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.401G>A	1.37:g.45120664C>T	ENSP00000361311:p.Arg134His	Somatic		Capture	Illumina HiSeq	Phase_I	44893251	B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	CCDS511.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	T	13.57	2.275791	0.40294	0.013391	1.16E-4	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	3.34	0.38264	.	0.326909	0.35838	N	0.002942	T	0.07818	0.0196	N	0.00742	-1.23	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.25745	-1.0123	9	0.27082	T	0.32	.	9.6013	0.39605	0.0:0.1997:0.0:0.8003	rs35524791	134	Q6P2H8	TMM53_HUMAN	H	134;134;104;103	.	ENSP00000361309:R104H	R	-	2	0	TMEM53	44893251	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	1.079000	0.30766	0.105000	0.17753	-0.360000	0.07572	CGC		TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587	
PCSK9	255738	hgsc.bcm.edu	37	1	55523739	55523739	+	Missense_Mutation	SNP	C	C	T	rs140072072		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:55523739C>T	ENST00000302118.5	+	8	1501	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.P204L	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	404	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P404Q(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCTGCCGAGCCGGAGCTCACC	0.612																																					Pancreas(137;1454 1827 5886 22361 42375)												1	Substitution - Missense(1)	ovary(1)	1						C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	71.0	65.0	67.0		1211	3.5	0.0	1	dbSNP_134	67	0,8600		0,0,4300	no	missense	PCSK9	NM_174936.3	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	404/693	55523739	1,13005	2203	4300	6503	55296327	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1211C>T	1.37:g.55523739C>T	ENSP00000303208:p.Pro404Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55296327	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713436	0.68730	2.27E-4	0.0	ENSG00000169174	ENST00000302118;ENST00000543384	T;T	0.81330	-1.48;-1.48	4.39	3.48	0.39840	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.067800	0.64402	D	0.000020	D	0.88625	0.6487	M	0.80183	2.485	0.48632	D	0.999684	D	0.89917	1.0	D	0.71414	0.973	D	0.89505	0.3767	10	0.87932	D	0	-11.5511	12.6057	0.56523	0.0:0.9181:0.0:0.0819	.	404	Q8NBP7	PCSK9_HUMAN	L	404;204	ENSP00000303208:P404L;ENSP00000441859:P204L	ENSP00000303208:P404L	P	+	2	0	PCSK9	55296327	0.916000	0.31088	0.013000	0.15412	0.412000	0.31113	2.014000	0.40951	0.955000	0.37878	0.563000	0.77884	CCG		PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936	
C1orf141	400757	hgsc.bcm.edu	37	1	67559074	67559074	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:67559074G>A	ENST00000371007.2	-	8	926	c.817C>T	c.(817-819)Cct>Tct	p.P273S	C1orf141_ENST00000544837.1_Missense_Mutation_p.P273S|C1orf141_ENST00000371006.1_Missense_Mutation_p.P273S	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	273								p.P273A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTACTGTAGGCATAGTTTTT	0.313																																																	1	Substitution - Missense(1)	ovary(1)	1											84.0	85.0	85.0					1																	67559074		2203	4298	6501	67331662	SO:0001583	missense	400757			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.817C>T	1.37:g.67559074G>A	ENSP00000360046:p.Pro273Ser	Somatic		Capture	Illumina HiSeq	Phase_I	67331662	Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259886	0.10239	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.29397	1.57;1.57;1.57	4.66	-2.04	0.07343	.	1.016720	0.07878	N	0.969119	T	0.04092	0.0114	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.18871	0.023	T	0.36237	-0.9756	10	0.02654	T	1	1.0971	5.2647	0.15593	0.4376:0.1429:0.4195:0.0	.	273	Q5JVX7	CA141_HUMAN	S	273	ENSP00000360046:P273S;ENSP00000360045:P273S;ENSP00000444018:P273S	ENSP00000360045:P273S	P	-	1	0	C1orf141	67331662	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.001000	0.03690	-0.504000	0.06577	0.561000	0.74099	CCT		C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674	
HFM1	164045	hgsc.bcm.edu	37	1	91781407	91781407	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:91781407G>A	ENST00000370425.3	-	28	3203	c.3105C>T	c.(3103-3105)gaC>gaT	p.D1035D	HFM1_ENST00000370424.3_Silent_p.D714D|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Silent_p.D267D	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1035	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D1035D(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GATTATCTGCGTCACCTATGA	0.313																																																	1	Substitution - coding silent(1)	endometrium(1)	1											78.0	77.0	77.0					1																	91781407		2202	4297	6499	91553995	SO:0001819	synonymous_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3105C>T	1.37:g.91781407G>A		Somatic		Capture	Illumina HiSeq	Phase_I	91553995	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	5.756	0.323958	0.10900	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.50034	0.1592	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50541	-0.8816	4	.	.	.	.	11.1417	0.48406	0.927:0.0:0.073:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HFM1	91553995	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.029000	0.57253	0.843000	0.35070	-0.550000	0.04213	ACG		HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
NHLH2	4808	hgsc.bcm.edu	37	1	116380728	116380728	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:116380728C>A	ENST00000369506.1	-	1	5810	c.266G>T	c.(265-267)cGc>cTc	p.R89L	NHLH2_ENST00000320238.3_Missense_Mutation_p.R89L			Q02577	HEN2_HUMAN	nescient helix loop helix 2	89	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGCTTCCACGCGGATGCGCTC	0.701																																																	0			1											17.0	21.0	20.0					1																	116380728		2202	4300	6502	116182251	SO:0001583	missense	4808				CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.266G>T	1.37:g.116380728C>A	ENSP00000358519:p.Arg89Leu	Somatic		Capture	Illumina HiSeq	Phase_I	116182251	Q5T1P6	Missense_Mutation	SNP	ENST00000369506.1	37	CCDS885.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719173	0.89205	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D;D	0.99709	-6.48;-6.48;-6.48	4.49	4.49	0.54785	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000002	D	0.99775	0.9907	H	0.96080	3.765	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	D	0.97060	0.9770	10	0.87932	D	0	-13.4923	16.8027	0.85618	0.0:1.0:0.0:0.0	.	89	Q02577	HEN2_HUMAN	L	89	ENSP00000322087:R89L;ENSP00000358519:R89L;ENSP00000405062:R89L	ENSP00000322087:R89L	R	-	2	0	NHLH2	116182251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.053000	0.61076	0.561000	0.74099	CGC		NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033090.1	NM_005599	
SV2A	9900	hgsc.bcm.edu	37	1	149881107	149881107	+	Missense_Mutation	SNP	G	G	A	rs145220569		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:149881107G>A	ENST00000369146.3	-	7	1686	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	SV2A_ENST00000369145.1_Missense_Mutation_p.T399M	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	399					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTGATGAATCGTCTTAATGTG	0.572																																																	0			1						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	64.0	63.0	64.0		1196	5.4	1.0	1	dbSNP_134	64	0,8600		0,0,4300	no	missense	SV2A	NM_014849.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	399/743	149881107	1,13005	2203	4300	6503	148147731	SO:0001583	missense	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1196C>T	1.37:g.149881107G>A	ENSP00000358142:p.Thr399Met	Somatic		Capture	Illumina HiSeq	Phase_I	148147731	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828888	0.71258	2.27E-4	0.0	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.74526	-0.85;-0.85	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	M	0.72118	2.19	0.52501	D	0.999959	D	0.89917	1.0	D	0.71414	0.973	T	0.82045	-0.0652	10	0.51188	T	0.08	-16.2921	16.6795	0.85288	0.0:0.0:1.0:0.0	.	399	Q7L0J3	SV2A_HUMAN	M	399	ENSP00000358142:T399M;ENSP00000358141:T399M	ENSP00000358141:T399M	T	-	2	0	SV2A	148147731	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.792000	0.85828	2.813000	0.96785	0.655000	0.94253	ACG		SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1		
DUSP27	92235	hgsc.bcm.edu	37	1	167096275	167096275	+	Missense_Mutation	SNP	C	C	T	rs202017285	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:167096275C>T	ENST00000361200.2	+	6	2073	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	DUSP27_ENST00000271385.5_Missense_Mutation_p.T636M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.T636M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	636					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCGGCAGACGCTGGAGGAG	0.632													C|||	5	0.000998403	0.0	0.0	5008	,	,		14183	0.005		0.0	False		,,,				2504	0.0																0			1											37.0	34.0	35.0					1																	167096275		2202	4299	6501	165362899	SO:0001583	missense	338599			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1907C>T	1.37:g.167096275C>T	ENSP00000354483:p.Thr636Met	Somatic		Capture	Illumina HiSeq	Phase_I	165362899	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	16.28	3.078802	0.55753	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.1	5.1	0.69264	.	0.087500	0.43579	D	0.000551	T	0.03520	0.0101	M	0.65975	2.015	0.33061	D	0.534058	D	0.65815	0.995	P	0.49502	0.613	T	0.16719	-1.0393	10	0.87932	D	0	-13.8238	5.1441	0.14975	0.2009:0.6729:0.0:0.1261	.	636	Q5VZP5	DUS27_HUMAN	M	636	ENSP00000354483:T636M;ENSP00000271385:T636M;ENSP00000404874:T636M	ENSP00000271385:T636M	T	+	2	0	DUSP27	165362899	0.959000	0.32827	0.990000	0.47175	0.987000	0.75469	2.092000	0.41700	2.360000	0.80028	0.643000	0.83706	ACG		DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
PAPPA2	60676	hgsc.bcm.edu	37	1	176668549	176668549	+	Silent	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:176668549G>T	ENST00000367662.3	+	8	4224	c.3060G>T	c.(3058-3060)gtG>gtT	p.V1020V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1020					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						TGTCGGGGGTGAAAGTCTACA	0.542																																																	0			1											137.0	143.0	141.0					1																	176668549		2109	4241	6350	174935172	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3060G>T	1.37:g.176668549G>T		Somatic		Capture	Illumina HiSeq	Phase_I	174935172	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
CEP350	9857	hgsc.bcm.edu	37	1	180063690	180063690	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:180063690T>C	ENST00000367607.3	+	34	8868	c.8450T>C	c.(8449-8451)tTa>tCa	p.L2817S	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2817					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGTTGCTTCTTAAGTTCTGAA	0.403																																																	0			1											78.0	82.0	81.0					1																	180063690		2202	4300	6502	178330313	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8450T>C	1.37:g.180063690T>C	ENSP00000356579:p.Leu2817Ser	Somatic		Capture	Illumina HiSeq	Phase_I	178330313	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379575	0.61845	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.68331	-0.32	5.61	5.61	0.85477	.	0.210963	0.23760	N	0.044833	T	0.73289	0.3568	L	0.57536	1.79	0.42671	D	0.993514	D;D	0.59357	0.981;0.985	P;P	0.54590	0.69;0.756	T	0.73729	-0.3891	9	.	.	.	.	14.3537	0.66722	0.0:0.0:0.0:1.0	.	2817;2817	E7EU22;Q5VT06	.;CE350_HUMAN	S	2817;281	ENSP00000356579:L2817S	.	L	+	2	0	CEP350	178330313	0.997000	0.39634	0.794000	0.32065	0.649000	0.38597	4.992000	0.63889	2.126000	0.65437	0.482000	0.46254	TTA		CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
LAMC1	3915	hgsc.bcm.edu	37	1	183079749	183079749	+	Silent	SNP	G	G	A	rs111388231		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:183079749G>A	ENST00000258341.4	+	4	1238	c.981G>A	c.(979-981)ccG>ccA	p.P327P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	327	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ATGACCGGCCGTGGAGGAGGG	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19941	0.001		0.0	False		,,,				2504	0.0																0			1											181.0	178.0	179.0					1																	183079749		2203	4300	6503	181346372	SO:0001819	synonymous_variant	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.981G>A	1.37:g.183079749G>A		Somatic		Capture	Illumina HiSeq	Phase_I	181346372	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																				LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
RGS21	431704	hgsc.bcm.edu	37	1	192316514	192316514	+	Missense_Mutation	SNP	A	A	G	rs142678159	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:192316514A>G	ENST00000417209.2	+	3	257	c.83A>G	c.(82-84)aAc>aGc	p.N28S		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	28	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						CTTTTAGCCAACCAAGGTAAG	0.303													A|||	13	0.00259585	0.0	0.0	5008	,	,		15184	0.0119		0.0	False		,,,				2504	0.001																0			1						A	SER/ASN	1,3639		0,1,1819	122.0	114.0	117.0		83	5.0	0.9	1	dbSNP_134	117	0,8158		0,0,4079	yes	missense	RGS21	NM_001039152.3	46	0,1,5898	GG,GA,AA		0.0,0.0275,0.0085	benign	28/153	192316514	1,11797	1820	4079	5899	190583137	SO:0001583	missense	431704			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.83A>G	1.37:g.192316514A>G	ENSP00000428343:p.Asn28Ser	Somatic		Capture	Illumina HiSeq	Phase_I	190583137		Missense_Mutation	SNP	ENST00000417209.2	37	CCDS41448.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	A	1.889	-0.455997	0.04540	2.75E-4	0.0	ENSG00000253148	ENST00000417209	T	0.29917	1.55	6.08	4.96	0.65561	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.36234	U	0.002715	T	0.07683	0.0193	N	0.02751	-0.505	0.28042	N	0.933701	B	0.16396	0.017	B	0.08055	0.003	T	0.25779	-1.0122	10	0.05833	T	0.94	.	9.9088	0.41392	0.9229:0.0:0.0771:0.0	.	28	Q2M5E4	RGS21_HUMAN	S	28	ENSP00000428343:N28S	ENSP00000428343:N28S	N	+	2	0	RGS21	190583137	0.805000	0.28982	0.892000	0.35008	0.476000	0.33039	2.099000	0.41767	1.128000	0.42052	0.482000	0.46254	AAC		RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2		
ASPM	259266	hgsc.bcm.edu	37	1	197072050	197072050	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:197072050T>C	ENST00000367409.4	-	18	6587	c.6331A>G	c.(6331-6333)Aga>Gga	p.R2111G	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2111	IQ 16. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAATATGTCTTCTAACTCTA	0.328																																																	0			1											110.0	117.0	114.0					1																	197072050		2203	4297	6500	195338673	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6331A>G	1.37:g.197072050T>C	ENSP00000356379:p.Arg2111Gly	Somatic		Capture	Illumina HiSeq	Phase_I	195338673	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	12.01	1.810845	0.32053	.	.	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.59	4.44	0.53790	.	0.134493	0.51477	D	0.000099	D	0.86871	0.6037	H	0.94582	3.555	0.09310	N	0.999993	D	0.60160	0.987	D	0.67231	0.95	T	0.81165	-0.1057	10	0.87932	D	0	.	12.0466	0.53483	0.0:0.0:0.3364:0.6636	.	2111	Q8IZT6	ASPM_HUMAN	G	2111	ENSP00000356379:R2111G	ENSP00000356379:R2111G	R	-	1	2	ASPM	195338673	0.017000	0.18338	0.362000	0.25862	0.421000	0.31385	0.304000	0.19228	0.916000	0.36871	0.520000	0.50463	AGA		ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
C1orf186	440712	hgsc.bcm.edu	37	1	206241533	206241533	+	Splice_Site	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:206241533G>A	ENST00000331555.5	-	4	894	c.256C>T	c.(256-258)Cat>Tat	p.H86Y		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	86						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCTTACTCACGCCTGTAAAGG	0.552																																																	0			1											150.0	153.0	152.0					1																	206241533		2203	4300	6503	204408156	SO:0001630	splice_region_variant	440712			AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.256+1C>T	1.37:g.206241533G>A		Somatic		Capture	Illumina HiSeq	Phase_I	204408156		Missense_Mutation	SNP	ENST00000331555.5	37	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.927952	0.18056	.	.	ENSG00000196533	ENST00000331555	.	.	.	3.05	-2.69	0.06022	.	.	.	.	.	T	0.23688	0.0573	L	0.32530	0.975	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.19386	-1.0307	7	.	.	.	-26.9714	2.6739	0.05076	0.0952:0.2622:0.3715:0.2711	.	86	Q6ZWK4	CA186_HUMAN	Y	86	.	.	H	-	1	0	C1orf186	204408156	0.023000	0.18921	0.006000	0.13384	0.017000	0.09413	-0.221000	0.09202	-1.054000	0.03214	-1.357000	0.01221	CAT		C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544	Missense_Mutation
LAMB3	3914	hgsc.bcm.edu	37	1	209800259	209800259	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:209800259C>T	ENST00000356082.4	-	13	1684	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R517H|LAMB3_ENST00000391911.1_Missense_Mutation_p.R517H	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	517	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R517H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGGACACTGGCGGATGGCTGC	0.672																																																	1	Substitution - Missense(1)	central_nervous_system(1)	1											57.0	46.0	50.0					1																	209800259		2203	4300	6503	207866882	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1550G>A	1.37:g.209800259C>T	ENSP00000348384:p.Arg517His	Somatic		Capture	Illumina HiSeq	Phase_I	207866882	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160965	0.38119	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.38240	1.15;1.15;1.15	5.7	4.78	0.61160	EGF-like, laminin (3);	0.218554	0.33346	N	0.005011	T	0.32224	0.0822	L	0.60455	1.87	0.34284	D	0.682502	B	0.21688	0.059	B	0.22386	0.039	T	0.38824	-0.9643	10	0.15499	T	0.54	.	10.5105	0.44860	0.0:0.8458:0.0:0.1542	.	517	Q13751	LAMB3_HUMAN	H	517	ENSP00000375778:R517H;ENSP00000348384:R517H;ENSP00000355997:R517H	ENSP00000348384:R517H	R	-	2	0	LAMB3	207866882	0.254000	0.23992	1.000000	0.80357	0.384000	0.30261	0.484000	0.22308	1.423000	0.47198	0.650000	0.86243	CGC		LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
USH2A	7399	hgsc.bcm.edu	37	1	215807955	215807955	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:215807955G>A	ENST00000307340.3	-	70	15529	c.15143C>T	c.(15142-15144)gCg>gTg	p.A5048V	USH2A_ENST00000366943.2_Missense_Mutation_p.A5048V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5048					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)	p.A5048V(1)		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)		GCCCAGCATCGCCATTAACAC	0.463										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	large_intestine(1)	1											133.0	124.0	127.0					1																	215807955		2203	4300	6503	213874578	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.15143C>T	1.37:g.215807955G>A	ENSP00000305941:p.Ala5048Val	Somatic		Capture	Illumina HiSeq	Phase_I	213874578	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915574	0.52546	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.16457	2.34;2.36	5.88	5.88	0.94601	.	0.348186	0.20392	N	0.093230	T	0.12347	0.0300	L	0.41824	1.3	0.35959	D	0.834492	P	0.46952	0.887	B	0.30495	0.116	T	0.20773	-1.0265	10	0.34782	T	0.22	.	13.85	0.63489	0.0785:0.0:0.9215:0.0	.	5048	O75445	USH2A_HUMAN	V	5048	ENSP00000305941:A5048V;ENSP00000355910:A5048V	ENSP00000305941:A5048V	A	-	2	0	USH2A	213874578	1.000000	0.71417	0.960000	0.40013	0.618000	0.37518	5.806000	0.69150	2.785000	0.95823	0.655000	0.94253	GCG		USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	hgsc.bcm.edu	37	1	215963506	215963506	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:215963506A>G	ENST00000307340.3	-	51	10463	c.10077T>C	c.(10075-10077)tgT>tgC	p.C3359C	USH2A_ENST00000366943.2_Silent_p.C3359C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3359					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)	p.C3359*(1)		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)		GTTCAGTCTCACAGCATTTTA	0.383										HNSCC(13;0.011)																																							1	Substitution - Nonsense(1)	ovary(1)	1											133.0	127.0	129.0					1																	215963506		2203	4300	6503	214030129	SO:0001819	synonymous_variant	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.10077T>C	1.37:g.215963506A>G		Somatic		Capture	Illumina HiSeq	Phase_I	214030129	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
OBSCN	84033	hgsc.bcm.edu	37	1	228494787	228494787	+	Missense_Mutation	SNP	C	C	T	rs373344634		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:228494787C>T	ENST00000422127.1	+	45	12156	c.12112C>T	c.(12112-12114)Cgc>Tgc	p.R4038C	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4038C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1157C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R4995C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1672C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4038	Ig-like 41.				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)				GCTGCTGGTACGCGGAGTGGA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19091	0.0		0.0	False		,,,				2504	0.001																0			1						C	CYS/ARG,CYS/ARG	0,4386		0,0,2193	62.0	75.0	71.0		12112,12112	-3.9	0.0	1		71	1,8565	1.2+/-3.3	0,1,4282	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	180,180	0,1,6475	TT,TC,CC		0.0117,0.0,0.0077	benign,benign	4038/7969,4038/6621	228494787	1,12951	2193	4283	6476	226561410	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12112C>T	1.37:g.228494787C>T	ENSP00000409493:p.Arg4038Cys	Somatic		Capture	Illumina HiSeq	Phase_I	226561410	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217487	0.22373	0.0	1.17E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.81	-3.87	0.04218	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.082060	0.07071	N	0.835483	T	0.64227	0.2579	M	0.83774	2.66	0.09310	N	1	B;B	0.17268	0.007;0.021	B;B	0.15052	0.008;0.012	T	0.54794	-0.8240	10	0.38643	T	0.18	.	7.469	0.27338	0.1101:0.3651:0.0:0.5248	.	4038;4038	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	4038;4038;1672;1157	ENSP00000284548:R4038C;ENSP00000409493:R4038C;ENSP00000355668:R1672C;ENSP00000355670:R1157C	ENSP00000284548:R4038C	R	+	1	0	OBSCN	226561410	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.228000	0.09114	-0.692000	0.05128	-1.281000	0.01382	CGC		OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OR2AK2	391191	hgsc.bcm.edu	37	1	248129081	248129081	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr1:248129081C>A	ENST00000366480.3	+	1	547	c.448C>A	c.(448-450)Ctt>Att	p.L150I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTATCCTATGCTTATGAGCAA	0.428																																					Melanoma(45;390 1181 23848 28461 41504)												0			1											278.0	251.0	260.0					1																	248129081		2203	4300	6503	246195704	SO:0001583	missense	391191			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.448C>A	1.37:g.248129081C>A	ENSP00000355436:p.Leu150Ile	Somatic		Capture	Illumina HiSeq	Phase_I	246195704	B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	13.42	2.231286	0.39399	.	.	ENSG00000187080	ENST00000366480	T	0.00902	5.56	3.03	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01029	0.0034	N	0.21097	0.63	0.09310	N	1	D	0.54772	0.968	P	0.47744	0.556	T	0.57027	-0.7881	9	0.46703	T	0.11	.	5.1182	0.14847	0.3656:0.4449:0.1895:0.0	.	150	Q8NG84	O2AK2_HUMAN	I	150	ENSP00000355436:L150I	ENSP00000355436:L150I	L	+	1	0	OR2AK2	246195704	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	-1.954000	0.01525	1.679000	0.50963	0.455000	0.32223	CTT		OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491	
OR51E1	143503	hgsc.bcm.edu	37	11	4674315	4674315	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:4674315G>T	ENST00000396952.5	+	2	1209	c.559G>T	c.(559-561)Gtc>Ttc	p.V187F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACCAAGATGTCATGAAGCT	0.542																																																	0			11											230.0	197.0	208.0					11																	4674315		2201	4298	6499	4630891	SO:0001583	missense	143503			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.559G>T	11.37:g.4674315G>T	ENSP00000380155:p.Val187Phe	Somatic		Capture	Illumina HiSeq	Phase_I	4630891	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164451	0.57476	.	.	ENSG00000180785	ENST00000396952	T	0.72505	-0.66	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.284575	0.25494	N	0.030289	D	0.83188	0.5200	M	0.87547	2.89	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	D	0.84734	0.0747	10	0.87932	D	0	.	7.4055	0.26987	0.1741:0.0:0.8259:0.0	.	186	Q8TCB6	O51E1_HUMAN	F	187	ENSP00000380155:V187F	ENSP00000380155:V187F	V	+	1	0	OR51E1	4630891	0.007000	0.16637	1.000000	0.80357	0.996000	0.88848	0.051000	0.14141	2.605000	0.88082	0.655000	0.94253	GTC		OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430	
OR51I1	390063	hgsc.bcm.edu	37	11	5462306	5462306	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:5462306C>A	ENST00000380211.1	-	1	438	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	147					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCCCAGACCCATAGCCAAT	0.478																																																	0			11											135.0	105.0	116.0					11																	5462306		2201	4297	6498	5418882	SO:0001583	missense	390063			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.439G>T	11.37:g.5462306C>A	ENSP00000369559:p.Gly147Cys	Somatic		Capture	Illumina HiSeq	Phase_I	5418882	B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609116	0.28623	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.35236	1.32	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.54615	0.1869	M	0.93678	3.445	0.39406	D	0.966662	P	0.39326	0.668	B	0.42882	0.401	T	0.66889	-0.5809	10	0.87932	D	0	.	12.0476	0.53489	0.0:0.9209:0.0:0.0791	.	147	Q9H343	O51I1_HUMAN	C	132;144;147	ENSP00000369559:G147C	ENSP00000348350:G132C	G	-	1	0	OR51I1	5418882	0.098000	0.21812	0.968000	0.41197	0.342000	0.28953	3.381000	0.52455	2.742000	0.94016	0.551000	0.68910	GGT		OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288	
CCDC73	493860	hgsc.bcm.edu	37	11	32636242	32636242	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:32636242A>G	ENST00000335185.5	-	16	1665	c.1622T>C	c.(1621-1623)tTa>tCa	p.L541S	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	541										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGCTGTATCTAACACTACAAA	0.299																																																	0			11											129.0	116.0	120.0					11																	32636242		1814	4074	5888	32592818	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1622T>C	11.37:g.32636242A>G	ENSP00000335325:p.Leu541Ser	Somatic		Capture	Illumina HiSeq	Phase_I	32592818	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	3.003	-0.205650	0.06180	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.19	-0.635	0.11512	.	0.746134	0.11499	N	0.557867	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.28933	0.228	B	0.24394	0.053	T	0.25363	-1.0134	9	0.17369	T	0.5	.	3.7258	0.08474	0.4109:0.0:0.4302:0.1588	.	541	Q6ZRK6	CCD73_HUMAN	S	541	.	ENSP00000335325:L541S	L	-	2	0	CCDC73	32592818	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.174000	0.16743	-0.487000	0.06735	0.482000	0.46254	TTA		CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
MYBPC3	4607	hgsc.bcm.edu	37	11	47350685	47350685	+	IGR	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:47350685G>A	ENST00000545968.1	-	0	4217				MADD_ENST00000395336.3_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.R1537Q|MADD_ENST00000402799.1_Missense_Mutation_p.R1541Q|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000342922.4_Missense_Mutation_p.R1584Q|MADD_ENST00000402192.2_Missense_Mutation_p.R1583Q|MADD_ENST00000407859.3_Missense_Mutation_p.R1561Q|MADD_ENST00000349238.3_Missense_Mutation_p.R1604Q|MADD_ENST00000311027.5_Missense_Mutation_p.R1643Q	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACCCCGCCCCGGCCTGTCTCT	0.597																																																	0			11											95.0	97.0	96.0					11																	47350685		2201	4298	6499	47307261	SO:0001628	intergenic_variant	8567			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896			11.37:g.47350685G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47307261	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	36	5.836323	0.97009	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.08008	3.27;3.14;3.26;3.18;3.14;3.14;3.27	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D	0.83275	0.978;0.978;0.99;0.996;0.993;0.99;0.996	T	0.00115	-1.2038	10	0.72032	D	0.01	-17.409	20.0016	0.97412	0.0:0.0:1.0:0.0	.	1537;1537;1541;1604;1561;1643;1584	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	Q	1584;1541;1604;1643;1561;1537;1583	ENSP00000343902:R1584Q;ENSP00000385585:R1541Q;ENSP00000304505:R1604Q;ENSP00000310933:R1643Q;ENSP00000384204:R1561Q;ENSP00000378753:R1537Q;ENSP00000384287:R1583Q	ENSP00000310933:R1643Q	R	+	2	0	MADD	47307261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.706000	0.74649	2.731000	0.93534	0.555000	0.69702	CGG		MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
OR4C15	81309	hgsc.bcm.edu	37	11	55322678	55322678	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:55322678T>C	ENST00000314644.2	+	1	896	c.896T>C	c.(895-897)gTt>gCt	p.V299A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CACATTGCTGTTGTGATTTTG	0.418										HNSCC(20;0.049)																																							0			11											244.0	234.0	238.0					11																	55322678		2201	4296	6497	55079254	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.896T>C	11.37:g.55322678T>C	ENSP00000324958:p.Val299Ala	Somatic		Capture	Illumina HiSeq	Phase_I	55079254	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610630	0.66558	.	.	ENSG00000181939	ENST00000314644	T	0.00237	8.47	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.75085	2.285	0.29568	N	0.850109	D	0.61697	0.99	D	0.65573	0.936	T	0.50750	-0.8791	9	0.62326	D	0.03	.	12.7227	0.57152	0.0:0.0:0.0:1.0	.	245	Q8NGM1	OR4CF_HUMAN	A	299	ENSP00000324958:V299A	ENSP00000324958:V299A	V	+	2	0	OR4C15	55079254	0.001000	0.12720	0.860000	0.33809	0.610000	0.37248	0.837000	0.27558	2.107000	0.64212	0.317000	0.21355	GTT		OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
OR9Q2	219957	hgsc.bcm.edu	37	11	57958121	57958121	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:57958121T>C	ENST00000311591.3	+	1	216	c.159T>C	c.(157-159)cgT>cgC	p.R53R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	53						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)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GTGGCGATCGTCGGCTCCACA	0.532																																																	0			11											122.0	88.0	99.0					11																	57958121		2201	4296	6497	57714697	SO:0001819	synonymous_variant	219957			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.159T>C	11.37:g.57958121T>C		Somatic		Capture	Illumina HiSeq	Phase_I	57714697		Silent	SNP	ENST00000311591.3	37	CCDS31544.1																																																																																				OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283	
OR5AN1	390195	hgsc.bcm.edu	37	11	59132243	59132243	+	Silent	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:59132243C>A	ENST00000313940.2	+	1	359	c.312C>A	c.(310-312)atC>atA	p.I104I		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	104						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(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AGTACTTTATCTTTTCAACGA	0.428																																																	0			11											206.0	188.0	194.0					11																	59132243		2201	4295	6496	58888819	SO:0001819	synonymous_variant	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.312C>A	11.37:g.59132243C>A		Somatic		Capture	Illumina HiSeq	Phase_I	58888819	B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	CCDS31559.1																																																																																				OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729	
OOSP2	219990	hgsc.bcm.edu	37	11	59811020	59811020	+	Missense_Mutation	SNP	C	C	T	rs375351184		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:59811020C>T	ENST00000278855.2	+	2	328	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PLAC1L_ENST00000532905.1_Missense_Mutation_p.A17V	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		48						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TATATATTTGCGGATGAATTA	0.398																																																	0			11						C	VAL/ALA	0,4402		0,0,2201	120.0	118.0	118.0		143	0.2	0.0	11		118	1,8589	1.2+/-3.3	0,1,4294	no	missense	PLAC1L	NM_173801.3	64	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	48/159	59811020	1,12991	2201	4295	6496	59567596	SO:0001583	missense	219990																														ENST00000278855.2:c.143C>T	11.37:g.59811020C>T	ENSP00000278855:p.Ala48Val	Somatic		Capture	Illumina HiSeq	Phase_I	59567596	E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857310	0.51376	0.0	1.16E-4	ENSG00000149507	ENST00000278855;ENST00000532905	D;D	0.81996	-1.56;-1.56	3.4	0.161	0.14977	.	0.671038	0.12343	N	0.477297	T	0.82010	0.4944	L	0.50333	1.59	0.09310	N	1	D	0.65815	0.995	P	0.52793	0.709	T	0.71076	-0.4697	10	0.39692	T	0.17	-3.3017	8.9142	0.35572	0.5885:0.4115:0.0:0.0	.	48	Q86WS3	PLACL_HUMAN	V	48;17	ENSP00000278855:A48V;ENSP00000433831:A17V	ENSP00000278855:A48V	A	+	2	0	PLAC1L	59567596	0.008000	0.16893	0.026000	0.17262	0.725000	0.41563	0.192000	0.17096	0.043000	0.15746	0.557000	0.71058	GCG		PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1		
AHNAK	79026	hgsc.bcm.edu	37	11	62298674	62298674	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:62298674A>G	ENST00000378024.4	-	5	3489	c.3215T>C	c.(3214-3216)gTt>gCt	p.V1072A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1072					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCAGGTCAACATCTGGCAA	0.458																																																	0			11											123.0	120.0	121.0					11																	62298674		2202	4299	6501	62055250	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3215T>C	11.37:g.62298674A>G	ENSP00000367263:p.Val1072Ala	Somatic		Capture	Illumina HiSeq	Phase_I	62055250	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	10.28	1.306781	0.23821	.	.	ENSG00000124942	ENST00000378024	T	0.05025	3.51	4.76	4.76	0.60689	.	0.411457	0.23217	N	0.050620	T	0.06690	0.0171	L	0.46819	1.47	0.23827	N	0.996734	B	0.12630	0.006	B	0.16289	0.015	T	0.37197	-0.9716	10	0.09590	T	0.72	-10.1736	12.5425	0.56179	1.0:0.0:0.0:0.0	.	1072	Q09666	AHNK_HUMAN	A	1072	ENSP00000367263:V1072A	ENSP00000367263:V1072A	V	-	2	0	AHNAK	62055250	0.000000	0.05858	0.936000	0.37596	0.100000	0.18952	1.055000	0.30467	1.788000	0.52465	0.454000	0.30748	GTT		AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
SCYL1	57410	hgsc.bcm.edu	37	11	65303520	65303520	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:65303520C>T	ENST00000270176.5	+	11	1560	c.1483C>T	c.(1483-1485)Cac>Tac	p.H495Y	SCYL1_ENST00000525364.1_Missense_Mutation_p.H495Y|SCYL1_ENST00000533862.1_Missense_Mutation_p.H495Y|SCYL1_ENST00000527009.1_Missense_Mutation_p.H352Y|SCYL1_ENST00000279270.6_Missense_Mutation_p.H495Y|SCYL1_ENST00000524944.1_Missense_Mutation_p.H495Y|SCYL1_ENST00000420247.2_Missense_Mutation_p.H495Y	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	495			H -> Y (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.H495Y(1)		ovary(1)|skin(1)	2						TGCTGCCACCCACAACCTCTA	0.592																																																	1	Substitution - Missense(1)	skin(1)	11											89.0	91.0	90.0					11																	65303520		1980	4152	6132	65060096	SO:0001583	missense	57410			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1483C>T	11.37:g.65303520C>T	ENSP00000270176:p.His495Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	65060096	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335543	0.24253	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.104625	0.64402	D	0.000005	T	0.45915	0.1366	L	0.56769	1.78	0.80722	D	1	B;D;B;B;P	0.57571	0.038;0.98;0.232;0.232;0.928	B;P;B;B;P	0.54706	0.085;0.759;0.113;0.113;0.579	T	0.33369	-0.9871	10	0.49607	T	0.09	-11.242	16.7806	0.85562	0.0:1.0:0.0:0.0	.	495;495;495;495;495	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	Y	495;495;495;495;495;495;495;495;352	ENSP00000270176:H495Y;ENSP00000431635:H495Y;ENSP00000408192:H495Y;ENSP00000437254:H495Y;ENSP00000433450:H495Y;ENSP00000279270:H495Y;ENSP00000432175:H495Y;ENSP00000436993:H352Y	ENSP00000270176:H495Y	H	+	1	0	SCYL1	65060096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.079000	0.64431	2.577000	0.86979	0.462000	0.41574	CAC		SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680	
NARS2	79731	hgsc.bcm.edu	37	11	78279747	78279747	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:78279747A>G	ENST00000281038.5	-	3	678	c.303T>C	c.(301-303)agT>agC	p.S101S	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	101					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TTTTGGATGGACTTTTTATCA	0.338																																																	0			11											176.0	170.0	172.0					11																	78279747		2200	4291	6491	77957395	SO:0001819	synonymous_variant	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.303T>C	11.37:g.78279747A>G		Somatic		Capture	Illumina HiSeq	Phase_I	77957395	G3V178	Silent	SNP	ENST00000281038.5	37	CCDS8261.1																																																																																				NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
GRM5	2915	hgsc.bcm.edu	37	11	88242010	88242010	+	Missense_Mutation	SNP	G	G	A	rs543797881		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:88242010G>A	ENST00000305447.4	-	9	3538	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V	GRM5_ENST00000418177.2_Missense_Mutation_p.A1130V|GRM5_ENST00000455756.2_Missense_Mutation_p.A1098V|GRM5-AS1_ENST00000526448.1_RNA|GRM5-AS1_ENST00000531994.1_RNA|GRM5_ENST00000305432.5_Missense_Mutation_p.A1098V|GRM5_ENST00000393297.1_Intron	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1130					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CGCCCCTGCCGCGGGCTGCGC	0.711													G|||	1	0.000199681	0.0008	0.0	5008	,	,		8276	0.0		0.0	False		,,,				2504	0.0																0			11											7.0	7.0	7.0					11																	88242010		2097	4169	6266	87881658	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3389C>T	11.37:g.88242010G>A	ENSP00000306138:p.Ala1130Val	Somatic		Capture	Illumina HiSeq	Phase_I	87881658	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340533	0.24339	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.87966	-2.28;-2.32;-2.32;-2.28	4.54	2.52	0.30459	.	1.674510	0.03380	U	0.200282	T	0.76004	0.3927	N	0.12182	0.205	0.23030	N	0.998401	B;B	0.11235	0.004;0.002	B;B	0.08055	0.003;0.001	T	0.62445	-0.6853	9	.	.	.	.	6.0486	0.19773	0.1679:0.1556:0.6765:0.0	.	1098;1130	P41594-2;P41594	.;GRM5_HUMAN	V	1130;1098;1098;1130	ENSP00000402912:A1130V;ENSP00000405690:A1098V;ENSP00000305905:A1098V;ENSP00000306138:A1130V	.	A	-	2	0	GRM5	87881658	.	.	0.784000	0.31847	0.681000	0.39784	.	.	0.891000	0.36235	-0.244000	0.11960	GCG		GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
FAT3	120114	hgsc.bcm.edu	37	11	92534211	92534211	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:92534211G>A	ENST00000298047.6	+	9	8049	c.8032G>A	c.(8032-8034)Gtc>Atc	p.V2678I	FAT3_ENST00000409404.2_Missense_Mutation_p.V2678I|FAT3_ENST00000525166.1_Missense_Mutation_p.V2528I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2678	Cadherin 24. {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)				TTCGTTCTTTGTCAAAGCAGT	0.478										TCGA Ovarian(4;0.039)																																							0			11											49.0	46.0	47.0					11																	92534211		1917	4124	6041	92173859	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.8032G>A	11.37:g.92534211G>A	ENSP00000298047:p.Val2678Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92173859	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.054813	0.75960	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.64803	-0.12;-0.12;-0.12	6.17	6.17	0.99709	.	.	.	.	.	T	0.76941	0.4058	L	0.60067	1.865	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.68447	-0.5406	9	0.22706	T	0.39	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2678	Q8TDW7-3	.	I	2678;2678;2528	ENSP00000298047:V2678I;ENSP00000387040:V2678I;ENSP00000432586:V2528I	ENSP00000298047:V2678I	V	+	1	0	FAT3	92173859	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	GTC		FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
HEPHL1	341208	hgsc.bcm.edu	37	11	93808490	93808490	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:93808490C>A	ENST00000315765.9	+	9	1663	c.1655C>A	c.(1654-1656)tCt>tAt	p.S552Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	552	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACACCAGCTCTGGCCTGGTA	0.512																																																	0			11											90.0	86.0	87.0					11																	93808490		1948	4134	6082	93448138	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1655C>A	11.37:g.93808490C>A	ENSP00000313699:p.Ser552Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	93448138	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749316	0.89753	.	.	ENSG00000181333	ENST00000315765	D	0.99032	-5.35	5.39	5.39	0.77823	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.171616	0.53938	D	0.000056	D	0.99342	0.9769	M	0.85462	2.755	0.45852	D	0.99871	D	0.71674	0.998	D	0.72982	0.979	D	0.99253	1.0888	10	0.87932	D	0	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	552	Q6MZM0	HPHL1_HUMAN	Y	552	ENSP00000313699:S552Y	ENSP00000313699:S552Y	S	+	2	0	HEPHL1	93448138	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	7.332000	0.79203	2.517000	0.84864	0.650000	0.86243	TCT		HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
BIRC3	330	hgsc.bcm.edu	37	11	102195608	102195608	+	Missense_Mutation	SNP	C	C	T	rs572690185		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:102195608C>T	ENST00000263464.3	+	2	3118	c.368C>T	c.(367-369)tCa>tTa	p.S123L	BIRC3_ENST00000532808.1_Missense_Mutation_p.S123L	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	123					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCCACACACTCATTACTTCCG	0.408			T	MALT1	MALT																																			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0			11											171.0	179.0	176.0					11																	102195608		2203	4299	6502	101700818	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.368C>T	11.37:g.102195608C>T	ENSP00000263464:p.Ser123Leu	Somatic		Capture	Illumina HiSeq	Phase_I	101700818	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	C	3.937	-0.014949	0.07681	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.21932	1.98;1.98	5.93	0.599	0.17519	.	0.417996	0.29046	N	0.013313	T	0.12944	0.0314	L	0.33485	1.01	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.25047	-1.0143	10	0.25751	T	0.34	.	7.46	0.27289	0.0:0.6434:0.1113:0.2453	.	123	Q13489	BIRC3_HUMAN	L	123	ENSP00000263464:S123L;ENSP00000432907:S123L	ENSP00000263464:S123L	S	+	2	0	BIRC3	101700818	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.566000	0.23593	0.122000	0.18314	-0.229000	0.12294	TCA		BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
ATM	472	hgsc.bcm.edu	37	11	108216545	108216545	+	Missense_Mutation	SNP	C	C	T	rs587779872		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:108216545C>T	ENST00000452508.2	+	59	8683	c.8494C>T	c.(8494-8496)Cgt>Tgt	p.R2832C	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2832C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2832	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		R -> C (in AT and B-cell non-Hodgkin lymphoma). {ECO:0000269|PubMed:10817650, ECO:0000269|PubMed:9288106, ECO:0000269|PubMed:9443866}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R2832C(4)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACCAGTTTTCCGTTACTTCTG	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(2)|NS(1)|central_nervous_system(1)	11	GRCh37	CM980159	ATM	M							146.0	152.0	150.0					11																	108216545		2200	4298	6498	107721755	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8494C>T	11.37:g.108216545C>T	ENSP00000388058:p.Arg2832Cys	Somatic		Capture	Illumina HiSeq	Phase_I	107721755	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383425	0.82792	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.76186	-1.0;-1.0	5.45	5.45	0.79879	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.88883	0.6558	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90645	0.4578	10	0.87932	D	0	.	19.2872	0.94084	0.0:1.0:0.0:0.0	.	2832	Q13315	ATM_HUMAN	C	2832	ENSP00000278616:R2832C;ENSP00000388058:R2832C	ENSP00000278616:R2832C	R	+	1	0	ATM	107721755	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.935000	0.63498	2.548000	0.85928	0.650000	0.86243	CGT		ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
KMT2A	4297	hgsc.bcm.edu	37	11	118359388	118359388	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:118359388G>A	ENST00000389506.5	+	11	4392	c.4392G>A	c.(4390-4392)gaG>gaA	p.E1464E	KMT2A_ENST00000534358.1_Silent_p.E1464E|KMT2A_ENST00000354520.4_Silent_p.E1426E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1464					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGGAGAACGAGCGCCCTCTGG	0.433																																																	0			11											135.0	122.0	126.0					11																	118359388		2200	4296	6496	117864598	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4392G>A	11.37:g.118359388G>A		Somatic		Capture	Illumina HiSeq	Phase_I	117864598	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
SRPR	6734	hgsc.bcm.edu	37	11	126135298	126135298	+	Silent	SNP	G	G	A	rs145286251		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:126135298G>A	ENST00000332118.6	-	10	1330	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Silent_p.S364S	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	392					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCTGCACCAGGGACTCCTGTA	0.567																																																	0			11						G	,	1,4401	2.1+/-5.4	0,1,2200	50.0	49.0	49.0		1092,1176	2.0	1.0	11	dbSNP_134	49	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	SRPR	NM_001177842.1,NM_003139.3	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	364/611,392/639	126135298	1,12999	2201	4299	6500	125640508	SO:0001819	synonymous_variant	6734			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1176C>T	11.37:g.126135298G>A		Somatic		Capture	Illumina HiSeq	Phase_I	125640508	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Silent	SNP	ENST00000332118.6	37	CCDS31717.1																																																																																				SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139	
NTM	50863	hgsc.bcm.edu	37	11	132016192	132016192	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:132016192C>T	ENST00000374786.1	+	2	663	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	NTM_ENST00000539799.1_Missense_Mutation_p.R62W|NTM_ENST00000427481.2_Missense_Mutation_p.R53W|NTM_ENST00000374791.3_Missense_Mutation_p.R62W|NTM_ENST00000425719.2_Missense_Mutation_p.R62W|NTM_ENST00000374784.1_Missense_Mutation_p.R62W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R62W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TATTGACAACCGGGTCACCCG	0.577																																																	2	Substitution - Missense(2)	lung(2)	11											110.0	90.0	97.0					11																	132016192		2201	4297	6498	131521402	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.184C>T	11.37:g.132016192C>T	ENSP00000363918:p.Arg62Trp	Somatic		Capture	Illumina HiSeq	Phase_I	131521402	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162507	0.78226	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054148	0.64402	D	0.000001	T	0.78059	0.4224	L	0.59436	1.845	0.47276	D	0.999374	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.998	D;D;D;D;P;D	0.72625	0.978;0.964;0.962;0.935;0.894;0.94	T	0.77005	-0.2748	10	0.45353	T	0.12	-18.7026	14.6363	0.68692	0.1455:0.8545:0.0:0.0	.	62;53;62;62;62;62	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	W	62;62;53;53;62;62;62	ENSP00000363923:R62W;ENSP00000437668:R62W;ENSP00000448104:R53W;ENSP00000416320:R53W;ENSP00000363918:R62W;ENSP00000396722:R62W;ENSP00000363916:R62W	ENSP00000363916:R62W	R	+	1	2	NTM	131521402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.766000	0.47629	2.691000	0.91804	0.655000	0.94253	CGG		NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
GCM2	9247	hgsc.bcm.edu	37	6	10875152	10875152	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:10875152T>C	ENST00000379491.4	-	5	744	c.597A>G	c.(595-597)caA>caG	p.Q199Q	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	199					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CACTGCTGTCTTGATTTTCTT	0.418																																																	0			6											89.0	85.0	87.0					6																	10875152		2203	4300	6503	10983138	SO:0001819	synonymous_variant	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.597A>G	6.37:g.10875152T>C		Somatic		Capture	Illumina HiSeq	Phase_I	10983138	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	CCDS4517.1																																																																																				GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
GNL1	2794	hgsc.bcm.edu	37	6	30523411	30523411	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:30523411C>T	ENST00000376621.3	-	2	1130	c.160G>A	c.(160-162)Gag>Aag	p.E54K	PRR3_ENST00000376557.3_5'Flank|PRR3_ENST00000376560.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	54					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCACAGACTCCCCGTCCGAG	0.667																																																	0			6											90.0	84.0	86.0					6																	30523411		2203	4300	6503	30631390	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.160G>A	6.37:g.30523411C>T	ENSP00000365806:p.Glu54Lys	Somatic		Capture	Illumina HiSeq	Phase_I	30631390	B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200724	0.58126	.	.	ENSG00000204590	ENST00000376621;ENST00000433809	T	0.46451	0.87	5.08	5.08	0.68730	.	0.113743	0.64402	D	0.000020	T	0.25419	0.0618	L	0.56769	1.78	0.52501	D	0.999951	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.06643	-1.0815	10	0.20046	T	0.44	-41.8254	15.7365	0.77849	0.0:1.0:0.0:0.0	.	52;54	B4DYK6;P36915	.;GNL1_HUMAN	K	54;52	ENSP00000365806:E54K	ENSP00000365806:E54K	E	-	1	0	GNL1	30631390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.377000	0.52425	2.534000	0.85438	0.561000	0.74099	GAG		GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2		
VPS52	6293	hgsc.bcm.edu	37	6	33232205	33232205	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:33232205G>A	ENST00000445902.2	-	14	1688	c.1470C>T	c.(1468-1470)agC>agT	p.S490S	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.S365S|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	490					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGCTTCGGACGCTCTGAACAT	0.562																																																	0			6											106.0	104.0	105.0					6																	33232205		2203	4300	6503	33340183	SO:0001819	synonymous_variant	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1470C>T	6.37:g.33232205G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33340183	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	CCDS4770.2																																																																																				VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
USP49	25862	hgsc.bcm.edu	37	6	41774568	41774568	+	Missense_Mutation	SNP	C	C	T	rs148441118	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:41774568C>T	ENST00000394253.3	-	3	483	c.154G>A	c.(154-156)Gac>Aac	p.D52N	USP49_ENST00000373006.1_Missense_Mutation_p.D52N|USP49_ENST00000373010.1_Missense_Mutation_p.D52N|USP49_ENST00000297229.2_Missense_Mutation_p.D52N|USP49_ENST00000373009.3_Missense_Mutation_p.D52N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	52					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D52N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGGCGTGGTCCTCAATATAG	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		13562	0.001		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)	6						C	ASN/ASP	0,4406		0,0,2203	97.0	103.0	101.0		154	5.1	1.0	6	dbSNP_134	101	6,8594	4.3+/-15.6	0,6,4294	yes	missense	USP49	NM_018561.3	23	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign	52/641	41774568	6,13000	2203	4300	6503	41882546	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.154G>A	6.37:g.41774568C>T	ENSP00000377797:p.Asp52Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41882546	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.7	4.856125	0.91355	0.0	6.98E-4	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.05	5.05	0.67936	.	0.048851	0.85682	D	0.000000	T	0.13157	0.0319	N	0.05280	-0.08	0.47214	D	0.99935	P	0.37500	0.597	B	0.41666	0.363	T	0.16897	-1.0387	10	0.59425	D	0.04	-16.9524	18.203	0.89844	0.0:1.0:0.0:0.0	.	52	Q70CQ1-2	.	N	52	ENSP00000377797:D52N;ENSP00000362101:D52N;ENSP00000362100:D52N;ENSP00000362097:D52N;ENSP00000297229:D52N	ENSP00000297229:D52N	D	-	1	0	USP49	41882546	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.581000	0.67471	2.624000	0.88883	0.655000	0.94253	GAC		USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	
GPR110	266977	hgsc.bcm.edu	37	6	46984471	46984471	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:46984471A>G	ENST00000371253.2	-	8	860	c.645T>C	c.(643-645)gtT>gtC	p.V215V	GPR110_ENST00000283297.5_Silent_p.V18V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	215	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGCTGGAGCCAACAACTTCAT	0.458																																																	0			6											104.0	90.0	95.0					6																	46984471		2203	4300	6503	47092430	SO:0001819	synonymous_variant	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.645T>C	6.37:g.46984471A>G		Somatic		Capture	Illumina HiSeq	Phase_I	47092430	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	CCDS34471.1																																																																																				GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	
GSTA2	2939	hgsc.bcm.edu	37	6	52615427	52615427	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:52615427G>T	ENST00000493422.1	-	7	772	c.617C>A	c.(616-618)cCt>cAt	p.P206H		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	206	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	ATCCATGGGAGGCTTCCTTGG	0.433																																																	0			6											125.0	128.0	127.0					6																	52615427		2203	4300	6503	52723386	SO:0001583	missense	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.617C>A	6.37:g.52615427G>T	ENSP00000420168:p.Pro206His	Somatic		Capture	Illumina HiSeq	Phase_I	52723386	Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	g	12.10	1.836529	0.32421	.	.	ENSG00000244067	ENST00000493422	T	0.11930	2.73	2.32	0.28	0.15682	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.073236	0.53938	N	0.000044	T	0.16428	0.0395	M	0.86953	2.85	0.22457	N	0.999084	D	0.69078	0.997	P	0.60415	0.874	T	0.03957	-1.0989	10	0.87932	D	0	.	4.162	0.10289	0.1436:0.0:0.63:0.2263	.	206	P09210	GSTA2_HUMAN	H	206	ENSP00000420168:P206H	ENSP00000420168:P206H	P	-	2	0	GSTA2	52723386	0.997000	0.39634	0.064000	0.19789	0.184000	0.23303	3.677000	0.54619	-0.076000	0.12775	0.298000	0.19748	CCT		GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846	
FAM46A	55603	hgsc.bcm.edu	37	6	82461682	82461682	+	Silent	SNP	A	A	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:82461682A>C	ENST00000320172.6	-	2	491	c.177T>G	c.(175-177)ccT>ccG	p.P59P	FAM46A_ENST00000369754.3_Silent_p.P78P|FAM46A_ENST00000369756.3_Silent_p.P140P	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	59					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		AGTGCGCCGTAGGGCTTTCGC	0.667																																																	0			6											41.0	38.0	39.0					6																	82461682		2200	4297	6497	82518401	SO:0001819	synonymous_variant	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.177T>G	6.37:g.82461682A>C		Somatic		Capture	Illumina HiSeq	Phase_I	82518401	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	CCDS34489.1																																																																																				FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1		
EPHA7	2045	hgsc.bcm.edu	37	6	93982020	93982020	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:93982020T>C	ENST00000369303.4	-	6	1629	c.1445A>G	c.(1444-1446)gAg>gGg	p.E482G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	482	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ACTTACTTTCTCGTAATACTT	0.418																																																	0			6											304.0	271.0	282.0					6																	93982020		2203	4300	6503	94038741	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.1445A>G	6.37:g.93982020T>C	ENSP00000358309:p.Glu482Gly	Somatic		Capture	Illumina HiSeq	Phase_I	94038741	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936201	0.73442	.	.	ENSG00000135333	ENST00000369303	T	0.59224	0.28	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.79784	0.969;0.988;0.993	T	0.75687	-0.3231	10	0.87932	D	0	.	15.8744	0.79151	0.0:0.0:0.0:1.0	.	482;482;482	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	G	482	ENSP00000358309:E482G	ENSP00000358309:E482G	E	-	2	0	EPHA7	94038741	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.655000	0.83696	2.219000	0.72066	0.459000	0.35465	GAG		EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
FBXL4	26235	hgsc.bcm.edu	37	6	99323420	99323420	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:99323420A>G	ENST00000369244.2	-	9	2001	c.1573T>C	c.(1573-1575)Ttc>Ctc	p.F525L	FBXL4_ENST00000229971.1_Missense_Mutation_p.F525L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	525					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AGTCTGGTGAAGCACCCGGTG	0.483																																																	0			6											91.0	87.0	88.0					6																	99323420		2203	4300	6503	99430141	SO:0001583	missense	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1573T>C	6.37:g.99323420A>G	ENSP00000358247:p.Phe525Leu	Somatic		Capture	Illumina HiSeq	Phase_I	99430141	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192762	0.38707	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.00745	5.75;5.75	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.00724	0.0024	N	0.21097	0.63	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.97	T	0.66492	-0.5910	10	0.02654	T	1	.	16.2898	0.82742	1.0:0.0:0.0:0.0	.	525;525	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	L	525	ENSP00000358247:F525L;ENSP00000229971:F525L	ENSP00000229971:F525L	F	-	1	0	FBXL4	99430141	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.000000	0.76290	2.250000	0.74265	0.482000	0.46254	TTC		FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2		
ASCC3	10973	hgsc.bcm.edu	37	6	101248259	101248259	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:101248259G>A	ENST00000369162.2	-	6	1388	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	ASCC3_ENST00000522650.1_Silent_p.A348A	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	348					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTCTCGTCTGGCAATTCTTT	0.368																																																	0			6											161.0	149.0	153.0					6																	101248259		2203	4299	6502	101354980	SO:0001819	synonymous_variant	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1044C>T	6.37:g.101248259G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101354980	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	CCDS5046.1																																																																																				ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
FAM184A	79632	hgsc.bcm.edu	37	6	119344188	119344188	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:119344188G>T	ENST00000338891.7	-	3	1515	c.1072C>A	c.(1072-1074)Cac>Aac	p.H358N	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.H238N|FAM184A_ENST00000522284.1_Missense_Mutation_p.H238N|FAM184A_ENST00000521531.1_Missense_Mutation_p.H358N|FAM184A_ENST00000352896.5_Missense_Mutation_p.H238N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	358						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ACTTCTTTGTGCTTGCTTAAT	0.403																																																	0			6											164.0	156.0	158.0					6																	119344188		1941	4160	6101	119385887	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1072C>A	6.37:g.119344188G>T	ENSP00000342604:p.His358Asn	Somatic		Capture	Illumina HiSeq	Phase_I	119385887	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107049	0.77096	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.73	5.73	0.89815	.	0.123438	0.64402	D	0.000018	T	0.28366	0.0701	L	0.57536	1.79	0.53005	D	0.999967	P;P;P	0.43352	0.763;0.763;0.804	P;B;P	0.47299	0.461;0.288;0.543	T	0.02244	-1.1189	10	0.15066	T	0.55	-13.5553	19.9133	0.97031	0.0:0.0:1.0:0.0	.	358;238;358	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	N	358;238;238;358;238	ENSP00000342604:H358N;ENSP00000326608:H238N;ENSP00000357460:H238N;ENSP00000430442:H358N;ENSP00000429826:H238N	ENSP00000342604:H358N	H	-	1	0	FAM184A	119385887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.241000	0.95402	2.721000	0.93114	0.655000	0.94253	CAC		FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
SYNE1	23345	hgsc.bcm.edu	37	6	152638118	152638118	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:152638118C>T	ENST00000367255.5	-	87	17177	c.16576G>A	c.(16576-16578)Gca>Aca	p.A5526T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A5138T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A5455T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5526T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A5455T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A50T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5526				A -> T (in Ref. 1; AAL33798). {ECO:0000305}.	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)	p.A5526T(1)		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)		AAATGTGATGCTGCCTGAAAA	0.353										HNSCC(10;0.0054)																																							1	Substitution - Missense(1)	central_nervous_system(1)	6											88.0	88.0	88.0					6																	152638118		2203	4300	6503	152679811	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.16576G>A	6.37:g.152638118C>T	ENSP00000356224:p.Ala5526Thr	Somatic		Capture	Illumina HiSeq	Phase_I	152679811	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	.	.	.	.	.	.	.	.	.	.	C	6.459	0.452849	0.12283	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.50277	1.34;1.34;1.34;1.34;0.75;1.34	5.59	4.7	0.59300	.	0.339402	0.25186	N	0.032492	T	0.13200	0.0320	L	0.31294	0.92	0.24607	N	0.993746	B;B;B;B	0.13145	0.007;0.004;0.004;0.007	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.16988	-1.0384	10	0.13470	T	0.59	.	8.4487	0.32858	0.1419:0.7409:0.0:0.1172	.	5526;5526;5526;5455	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	5526;5455;5526;5455;5138;50	ENSP00000356224:A5526T;ENSP00000396024:A5455T;ENSP00000265368:A5526T;ENSP00000390975:A5455T;ENSP00000341887:A5138T;ENSP00000349276:A50T	ENSP00000265368:A5526T	A	-	1	0	SYNE1	152679811	0.985000	0.35326	0.998000	0.56505	0.993000	0.82548	1.392000	0.34486	1.299000	0.44798	0.557000	0.71058	GCA		SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
FNDC1	84624	hgsc.bcm.edu	37	6	159654306	159654306	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr6:159654306G>A	ENST00000297267.9	+	11	2962	c.2762G>A	c.(2761-2763)cGg>cAg	p.R921Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R858Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	921					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R921Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCTGCATCGGAAGGAACCC	0.602																																																	2	Substitution - Missense(2)	large_intestine(2)	6											66.0	76.0	72.0					6																	159654306		1971	4154	6125	159574296	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2762G>A	6.37:g.159654306G>A	ENSP00000297267:p.Arg921Gln	Somatic		Capture	Illumina HiSeq	Phase_I	159574296	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.811076	0.32053	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.18657	2.2;2.81	5.33	-0.659	0.11424	.	0.921751	0.09236	N	0.829883	T	0.03564	0.0102	N	0.24115	0.695	0.09310	N	1	B;B	0.27117	0.168;0.105	B;B	0.19946	0.027;0.012	T	0.42361	-0.9456	10	0.36615	T	0.2	-5.173	5.1953	0.15233	0.4093:0.14:0.4507:0.0	.	858;921	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	Q	921;858	ENSP00000297267:R921Q;ENSP00000342460:R858Q	ENSP00000297267:R921Q	R	+	2	0	FNDC1	159574296	0.044000	0.20184	0.017000	0.16124	0.535000	0.34838	0.042000	0.13949	-0.500000	0.06614	-0.749000	0.03505	CGG		FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
TP53	7157	hgsc.bcm.edu	37	17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	rs483352695|rs397516437		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:7577545T>C	ENST00000269305.4	-	7	925	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000420246.2_Missense_Mutation_p.M246V|TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and 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.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	CTCCGGTTCATGCCGCCCATG	0.577		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"""	67	Substitution - Missense(39)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	liver(8)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|biliary_tract(6)|lung(6)|ovary(6)|breast(5)|stomach(4)|bone(4)|upper_aerodigestive_tract(3)|urinary_tract(3)|oesophagus(3)|soft_tissue(2)|central_nervous_system(2)|pancreas(2)	17	GRCh37	CM942294	TP53	M							152.0	113.0	126.0					17																	7577545		2203	4300	6503	7518270	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.736A>G	17.37:g.7577545T>C	ENSP00000269305:p.Met246Val	Somatic		Capture	Illumina HiSeq	Phase_I	7518270	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	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945888	0.73672	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	4.62	3.54	0.40534	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.87971	2.92	0.53005	D	0.999962	D;P;P;D;P;D	0.76494	0.993;0.889;0.832;0.994;0.931;0.999	D;P;B;D;D;D	0.80764	0.972;0.545;0.403;0.984;0.947;0.994	D	0.98572	1.0646	10	0.87932	D	0	-28.5667	8.419	0.32690	0.0:0.0941:0.0:0.9059	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246V;ENSP00000352610:M246V;ENSP00000269305:M246V;ENSP00000398846:M246V;ENSP00000391127:M246V;ENSP00000391478:M246V;ENSP00000425104:M114V;ENSP00000423862:M153V	ENSP00000269305:M246V	M	-	1	0	TP53	7518270	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.824000	0.86668	0.914000	0.36822	0.379000	0.24179	ATG		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7579536	7579536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:7579536C>A	ENST00000269305.4	-	4	340	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	TP53_ENST00000420246.2_Nonsense_Mutation_p.E51*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E51*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E51*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E51*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E51*	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	51	Interaction with HRMT1L2.				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.0?(8)|p.E51*(6)|p.E51fs*6(3)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.E51fs*72(1)|p.P13fs*18(1)|p.S33fs*23(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)	AACCATTGTTCAATATCGTCC	0.592		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"""	23	Whole gene deletion(8)|Substitution - Nonsense(6)|Deletion - Frameshift(6)|Insertion - Frameshift(3)	ovary(5)|bone(4)|skin(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|kidney(1)|breast(1)|prostate(1)|pancreas(1)	17											169.0	168.0	168.0					17																	7579536		2203	4300	6503	7520261	SO:0001587	stop_gained	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.151G>T	17.37:g.7579536C>A	ENSP00000269305:p.Glu51*	Somatic		Capture	Illumina HiSeq	Phase_I	7520261	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718125	0.48622	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.77	0.663	0.17885	.	1.997220	0.02241	N	0.065738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	0.6634	5.7343	0.18057	0.0:0.6465:0.0:0.3535	.	.	.	.	X	51	.	ENSP00000269305:E51X	E	-	1	0	TP53	7520261	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.943000	0.03917	0.194000	0.20326	0.561000	0.74099	GAA		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH2	4620	hgsc.bcm.edu	37	17	10428144	10428144	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:10428144T>C	ENST00000245503.5	-	34	5285	c.4901A>G	c.(4900-4902)cAg>cGg	p.Q1634R	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1634R|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1634					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q1634L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGGTTCAGCTGGATTTCCAT	0.517																																																	1	Substitution - Missense(1)	ovary(1)	17											205.0	177.0	187.0					17																	10428144		2203	4298	6501	10368869	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4901A>G	17.37:g.10428144T>C	ENSP00000245503:p.Gln1634Arg	Somatic		Capture	Illumina HiSeq	Phase_I	10368869	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408615	0.83340	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78707	-1.2;-1.2	5.44	5.44	0.79542	Myosin tail (1);	0.000000	0.37304	U	0.002144	D	0.87394	0.6166	H	0.96269	3.795	0.54753	D	0.999985	P	0.38250	0.624	B	0.43155	0.41	D	0.90284	0.4317	10	0.66056	D	0.02	.	15.662	0.77193	0.0:0.0:0.0:1.0	.	1634	Q9UKX2	MYH2_HUMAN	R	1634	ENSP00000245503:Q1634R;ENSP00000380367:Q1634R	ENSP00000245503:Q1634R	Q	-	2	0	MYH2	10368869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.778000	0.85637	2.277000	0.76020	0.482000	0.46254	CAG		MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
COPS3	8533	hgsc.bcm.edu	37	17	17150847	17150847	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:17150847G>A	ENST00000268717.5	-	11	1271	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	COPS3_ENST00000439936.2_Missense_Mutation_p.R311W|COPS3_ENST00000539941.2_Missense_Mutation_p.R369W	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	389					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTTTCAGCCGCTCATCCAGC	0.498																																																	0			17											194.0	181.0	185.0					17																	17150847		2203	4300	6503	17091572	SO:0001583	missense	8533			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.1165C>T	17.37:g.17150847G>A	ENSP00000268717:p.Arg389Trp	Somatic		Capture	Illumina HiSeq	Phase_I	17091572	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228800	0.39399	.	.	ENSG00000141030	ENST00000268717;ENST00000539941	.	.	.	5.53	4.55	0.56014	.	0.055983	0.64402	D	0.000002	T	0.41789	0.1174	N	0.19112	0.55	0.40468	D	0.980316	P	0.48694	0.914	P	0.44561	0.453	T	0.47368	-0.9123	9	0.66056	D	0.02	-20.8034	12.6347	0.56677	0.0:0.0:0.699:0.301	.	389	Q9UNS2	CSN3_HUMAN	W	389;369	.	ENSP00000268717:R389W	R	-	1	2	COPS3	17091572	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.784000	0.62411	1.298000	0.44778	0.655000	0.94253	CGG		COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		
SEZ6	124925	hgsc.bcm.edu	37	17	27286098	27286098	+	Silent	SNP	C	C	T	rs372776647		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:27286098C>T	ENST00000317338.12	-	10	2480	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Silent_p.S684S|SEZ6_ENST00000442608.3_Silent_p.S684S|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	684	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.S684S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCCCGGGGTCCGACTGGAACT	0.597																																																	1	Substitution - coding silent(1)	large_intestine(1)	17						C	,	1,3911		0,1,1955	54.0	61.0	59.0		2052,2052	-8.6	0.9	17		59	0,8290		0,0,4145	no	coding-synonymous,coding-synonymous	SEZ6	NM_001098635.1,NM_178860.4	,	0,1,6100	TT,TC,CC		0.0,0.0256,0.0082	,	684/994,684/995	27286098	1,12201	1956	4145	6101	24310224	SO:0001819	synonymous_variant	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2052G>A	17.37:g.27286098C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24310224	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	CCDS45639.1																																																																																				SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		
BLMH	642	hgsc.bcm.edu	37	17	28612457	28612457	+	Missense_Mutation	SNP	A	A	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:28612457A>C	ENST00000261714.6	-	6	768	c.594T>G	c.(592-594)agT>agG	p.S198R	RNU6-1267P_ENST00000410747.1_RNA|BLMH_ENST00000394819.3_Missense_Mutation_p.S111R|BLMH_ENST00000582669.1_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	198					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TGGTTGCTCCACTGTGTACCA	0.428																																					Pancreas(127;628 1772 12912 33293 36203)												0			17											156.0	141.0	146.0					17																	28612457		2203	4300	6503	25636583	SO:0001583	missense	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.594T>G	17.37:g.28612457A>C	ENSP00000261714:p.Ser198Arg	Somatic		Capture	Illumina HiSeq	Phase_I	25636583	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901357	0.52227	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.42131	0.98;0.98	5.83	3.61	0.41365	.	0.072064	0.85682	D	0.000000	T	0.36331	0.0963	L	0.49455	1.56	0.42116	D	0.991405	B;B	0.19331	0.035;0.009	B;B	0.17722	0.019;0.013	T	0.15009	-1.0452	10	0.56958	D	0.05	-17.9855	9.8594	0.41105	0.8611:0.0:0.1389:0.0	.	111;198	E7EMN3;Q13867	.;BLMH_HUMAN	R	198;111	ENSP00000261714:S198R;ENSP00000378296:S111R	ENSP00000261714:S198R	S	-	3	2	BLMH	25636583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.423000	0.34837	0.470000	0.27294	-0.297000	0.09499	AGT		BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386	
NF1	4763	hgsc.bcm.edu	37	17	29562775	29562775	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:29562775G>T	ENST00000358273.4	+	28	4238	c.3855G>T	c.(3853-3855)atG>atT	p.M1285I	NF1_ENST00000356175.3_Missense_Mutation_p.M1285I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1285	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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.?(4)	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)		GTAAAATAATGACATTCTGTT	0.403			"""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	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											136.0	132.0	133.0					17																	29562775		2203	4300	6503	26586901	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.3855G>T	17.37:g.29562775G>T	ENSP00000351015:p.Met1285Ile	Somatic		Capture	Illumina HiSeq	Phase_I	26586901	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796023	0.90453	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.80214	-0.02;-1.35;-1.35	6.16	6.16	0.99307	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (3);	0.078863	0.85682	D	0.000000	D	0.86916	0.6048	L	0.43646	1.37	0.80722	D	1	D;B;P;B	0.76494	0.999;0.032;0.656;0.408	D;B;P;B	0.74023	0.982;0.049;0.679;0.335	D	0.83835	0.0254	10	0.36615	T	0.2	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1285;335;1285;1285	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	I	1285;1285;951	ENSP00000351015:M1285I;ENSP00000348498:M1285I;ENSP00000389907:M951I	ENSP00000348498:M1285I	M	+	3	0	NF1	26586901	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.278000	0.95766	2.937000	0.99478	0.650000	0.86243	ATG		NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	hgsc.bcm.edu	37	17	29677294	29677294	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:29677294C>A	ENST00000358273.4	+	50	7798	c.7415C>A	c.(7414-7416)cCt>cAt	p.P2472H	NF1_ENST00000356175.3_Missense_Mutation_p.P2451H|NF1_ENST00000417592.2_Missense_Mutation_p.P185H|NF1_ENST00000444181.2_Missense_Mutation_p.P265H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2472					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.?(3)|p.P2472H(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)		GAAAATGTTCCTATGGATACA	0.348			"""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	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|prostate(1)|central_nervous_system(1)	17											130.0	115.0	120.0					17																	29677294		2203	4300	6503	26701420	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.7415C>A	17.37:g.29677294C>A	ENSP00000351015:p.Pro2472His	Somatic		Capture	Illumina HiSeq	Phase_I	26701420	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843226	0.91197	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.46451	3.14;3.3;2.99;0.87	5.57	5.57	0.84162	Armadillo-type fold (1);	0.176816	0.50627	D	0.000103	T	0.50360	0.1611	L	0.44542	1.39	0.80722	D	1	P;B	0.47409	0.895;0.383	P;B	0.51079	0.658;0.136	T	0.44802	-0.9304	10	0.49607	T	0.09	.	19.5321	0.95234	0.0:1.0:0.0:0.0	.	2451;2472	P21359-2;P21359	.;NF1_HUMAN	H	2472;2451;2117;265;185	ENSP00000351015:P2472H;ENSP00000348498:P2451H;ENSP00000389907:P2117H;ENSP00000396481:P265H	ENSP00000348498:P2451H	P	+	2	0	NF1	26701420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.056000	0.76662	2.626000	0.88956	0.563000	0.77884	CCT		NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
SLFN14	342618	hgsc.bcm.edu	37	17	33880365	33880365	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:33880365G>T	ENST00000415846.3	-	3	1323	c.1288C>A	c.(1288-1290)Cct>Act	p.P430T	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	430							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						TGAGAACAAGGATGTATCAGG	0.433																																																	0			17											53.0	44.0	47.0					17																	33880365		692	1591	2283	30904478	SO:0001583	missense	342618				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.1288C>A	17.37:g.33880365G>T	ENSP00000391101:p.Pro430Thr	Somatic		Capture	Illumina HiSeq	Phase_I	30904478	B2RTW9	Missense_Mutation	SNP	ENST00000415846.3	37	CCDS45650.1	.	.	.	.	.	.	.	.	.	.	G	9.355	1.066529	0.20067	.	.	ENSG00000236320	ENST00000415846	T	0.01871	4.59	4.9	4.9	0.64082	.	.	.	.	.	T	0.04543	0.0124	M	0.67953	2.075	0.23827	N	0.99674	B	0.18461	0.028	B	0.16722	0.016	T	0.15378	-1.0439	9	0.39692	T	0.17	-3.156	13.7603	0.62961	0.0:0.0:1.0:0.0	.	430	P0C7P3	SLN14_HUMAN	T	430	ENSP00000391101:P430T	ENSP00000391101:P430T	P	-	1	0	SLFN14	30904478	0.911000	0.30947	0.553000	0.28255	0.205000	0.24178	2.740000	0.47418	2.689000	0.91719	0.655000	0.94253	CCT		SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448928.1	NM_001129820	
SYNRG	11276	hgsc.bcm.edu	37	17	35900630	35900630	+	Missense_Mutation	SNP	C	C	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:35900630C>G	ENST00000339208.6	-	16	3358	c.3218G>C	c.(3217-3219)aGt>aCt	p.S1073T	SYNRG_ENST00000346661.4_Missense_Mutation_p.S1073T|SYNRG_ENST00000394378.2_Missense_Mutation_p.S995T|SYNRG_ENST00000585472.1_Missense_Mutation_p.S994T|SYNRG_ENST00000345615.4_Missense_Mutation_p.S995T|SYNRG_ENST00000591288.1_Missense_Mutation_p.S867T|SYNRG_ENST00000502449.2_Missense_Mutation_p.S950T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1073					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGGCTCAAACTCCTCTTGTG	0.493																																																	0			17											86.0	90.0	89.0					17																	35900630		2203	4300	6503	32974743	SO:0001583	missense	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3218G>C	17.37:g.35900630C>G	ENSP00000343610:p.Ser1073Thr	Somatic		Capture	Illumina HiSeq	Phase_I	32974743	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703388	0.88924	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.54866	1.1;0.55	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.996;0.996	D;D;D;D;D;D	0.83275	0.996;0.996;0.996;0.996;0.99;0.99	T	0.68488	-0.5395	10	0.38643	T	0.18	-9.1744	17.94	0.89024	0.0:1.0:0.0:0.0	.	867;995;995;995;1073;1073	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	T	1073;867;1073;995;995	ENSP00000005279:S1073T;ENSP00000377903:S995T	ENSP00000343610:S867T	S	-	2	0	SYNRG	32974743	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	7.788000	0.85771	2.475000	0.83589	0.563000	0.77884	AGT		SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	
CDK12	51755	hgsc.bcm.edu	37	17	37676315	37676315	+	Nonsense_Mutation	SNP	G	G	T	rs201479472		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:37676315G>T	ENST00000447079.4	+	11	3103	c.3070G>T	c.(3070-3072)Gaa>Taa	p.E1024*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.E1024*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1024					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E1024*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TAAAGATGTCGAACTCAGCAA	0.468			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Nonsense(1)	lung(1)	17											133.0	112.0	119.0					17																	37676315		2203	4300	6503	34929841	SO:0001587	stop_gained	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3070G>T	17.37:g.37676315G>T	ENSP00000398880:p.Glu1024*	Somatic		Capture	Illumina HiSeq	Phase_I	34929841	A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	40	8.374654	0.98784	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.56	5.56	0.83823	.	0.341651	0.21039	N	0.081207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.4145	19.5353	0.95251	0.0:0.0:1.0:0.0	.	.	.	.	X	1024	.	ENSP00000407720:E1024X	E	+	1	0	CDK12	34929841	1.000000	0.71417	0.440000	0.26846	0.928000	0.56348	9.824000	0.99380	2.607000	0.88179	0.655000	0.94253	GAA		CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
TOP2A	7153	hgsc.bcm.edu	37	17	38567398	38567398	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:38567398C>T	ENST00000423485.1	-	10	1324	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	389					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCATGTTGATCCAAAGCTCTT	0.333																																																	0			17											109.0	96.0	100.0					17																	38567398		1807	4078	5885	35820924	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1166G>A	17.37:g.38567398C>T	ENSP00000411532:p.Gly389Glu	Somatic		Capture	Illumina HiSeq	Phase_I	35820924	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849006	0.91277	.	.	ENSG00000131747	ENST00000423485;ENST00000348049;ENST00000357601	T	0.26810	1.71	5.64	5.64	0.86602	Ribosomal protein S5 domain 2-type fold (1);DNA topoisomerase, type IIA, subunit B, domain 2 (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	.	.	.	.	T	0.64560	0.2609	H	0.95260	3.645	0.80722	D	1	D	0.59767	0.986	D	0.64410	0.925	T	0.75918	-0.3148	9	0.87932	D	0	.	19.6803	0.95960	0.0:1.0:0.0:0.0	.	389	P11388	TOP2A_HUMAN	E	389;388;425	ENSP00000411532:G389E	ENSP00000342944:G388E	G	-	2	0	TOP2A	35820924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.653000	0.90120	0.650000	0.86243	GGA		TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
KRT35	3886	hgsc.bcm.edu	37	17	39633380	39633380	+	Silent	SNP	G	G	A	rs367703815		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:39633380G>A	ENST00000393989.1	-	7	1338	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	KRT35_ENST00000246639.2_Silent_p.C402C	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	432	Tail.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CACTAGGACCGCAGGAGGCCG	0.587																																																	0			17						G		0,3906		0,0,1953	49.0	56.0	54.0		1296	-8.4	0.0	17		54	1,8291		0,1,4145	no	coding-synonymous	KRT35	NM_002280.4		0,1,6098	AA,AG,GG		0.0121,0.0,0.0082		432/456	39633380	1,12197	1953	4146	6099	36886906	SO:0001819	synonymous_variant	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1296C>T	17.37:g.39633380G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36886906	O76012|Q92651	Silent	SNP	ENST00000393989.1	37	CCDS11394.2																																																																																				KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280	
ATP6V0A1	535	hgsc.bcm.edu	37	17	40647711	40647711	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:40647711C>T	ENST00000343619.4	+	14	1660	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S	RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P513S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P513S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P470S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P520S|MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P470S|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.P159S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	513					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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GTTTGGTGGACCATACCCTTT	0.433																																																	0			17											85.0	67.0	73.0					17																	40647711		2203	4300	6503	37901237	SO:0001583	missense	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1537C>T	17.37:g.40647711C>T	ENSP00000342951:p.Pro513Ser	Somatic		Capture	Illumina HiSeq	Phase_I	37901237	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567880	0.96540	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94542	0.8242	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.989;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.967;0.927;1.0;1.0	D	0.94636	0.7826	10	0.87932	D	0	-10.8412	20.6439	0.99570	0.0:1.0:0.0:0.0	.	470;470;520;513;513	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	S	513;513;513;520;470;159	ENSP00000342951:P513S;ENSP00000444676:P513S;ENSP00000377415:P513S;ENSP00000264649:P520S;ENSP00000443991:P470S;ENSP00000446377:P159S	ENSP00000264649:P520S	P	+	1	0	ATP6V0A1	37901237	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	7.791000	0.85805	2.884000	0.98904	0.655000	0.94253	CCA		ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020	
WIPI1	55062	hgsc.bcm.edu	37	17	66429644	66429644	+	Silent	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:66429644C>A	ENST00000262139.5	-	8	764	c.765G>T	c.(763-765)acG>acT	p.T255T	WIPI1_ENST00000546360.1_Silent_p.T173T|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	255					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AGATGTGTACCGTCTCGGTGT	0.498																																																	0			17											188.0	138.0	155.0					17																	66429644		2203	4300	6503	63941239	SO:0001819	synonymous_variant	55062				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.765G>T	17.37:g.66429644C>A		Somatic		Capture	Illumina HiSeq	Phase_I	63941239	Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	CCDS11677.1																																																																																				WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983	
HN1	51155	hgsc.bcm.edu	37	17	73132267	73132267	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:73132267G>A	ENST00000409753.3	-	5	680	c.395C>T	c.(394-396)cCg>cTg	p.P132L	HN1_ENST00000476258.1_Missense_Mutation_p.P86L|HN1_ENST00000482348.1_Missense_Mutation_p.P86L|HN1_ENST00000392566.2_Missense_Mutation_p.P86L|HN1_ENST00000481647.1_Missense_Mutation_p.P86L|HN1_ENST00000405458.3_Missense_Mutation_p.P86L|HN1_ENST00000356033.4_Missense_Mutation_p.R126W|HN1_ENST00000470924.1_Missense_Mutation_p.P86L|RP11-649A18.5_ENST00000584339.1_RNA	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	132					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CGGGGCCACCGGGCTGGGCAC	0.592																																																	0			17											45.0	50.0	48.0					17																	73132267		2203	4300	6503	70643862	SO:0001583	missense	51155			AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"""androgen-regulated protein 2"""					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.395C>T	17.37:g.73132267G>A	ENSP00000387059:p.Pro132Leu	Somatic		Capture	Illumina HiSeq	Phase_I	70643862	B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	ENST00000409753.3	37	CCDS45771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.803865|4.803865	0.90623|0.90623	.|.	.|.	ENSG00000189159|ENSG00000189159	ENST00000405458;ENST00000409753;ENST00000392566|ENST00000356033	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|1.112010	.|0.06831	.|N	.|0.793973	T|T	0.62720|0.62720	0.2451|0.2451	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	D|D	0.89917|0.60160	1.0|0.987	D|B	0.87578|0.43783	0.998|0.431	T|T	0.63919|0.63919	-0.6528|-0.6528	7|8	0.87932|0.72032	D|D	0|0.01	4.4765|4.4765	17.8012|17.8012	0.88587|0.88587	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	132|126	Q9UK76|Q9UK76-2	HN1_HUMAN|.	L|W	86;132;86|126	.|.	ENSP00000440912:P86L|ENSP00000348316:R126W	P|R	-|-	2|1	0|2	HN1|HN1	70643862|70643862	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.988000|0.988000	0.76386|0.76386	6.388000|6.388000	0.73195|0.73195	2.624000|2.624000	0.88883|0.88883	0.643000|0.643000	0.83706|0.83706	CCG|CGG		HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	NM_001002032	
RNF157	114804	hgsc.bcm.edu	37	17	74151352	74151352	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr17:74151352G>T	ENST00000269391.6	-	16	1877	c.1745C>A	c.(1744-1746)gCt>gAt	p.A582D	RNF157_ENST00000319945.6_Intron|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000586661.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	582							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGCTCTCCAGCTGGGAGGCC	0.587																																					GBM(186;507 2120 27388 27773 52994)												0			17											85.0	84.0	84.0					17																	74151352		2203	4300	6503	71662947	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1745C>A	17.37:g.74151352G>T	ENSP00000269391:p.Ala582Asp	Somatic		Capture	Illumina HiSeq	Phase_I	71662947	Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062947	0.55432	.	.	ENSG00000141576	ENST00000269391	T	0.26518	1.73	4.51	1.35	0.21983	.	0.265812	0.37012	N	0.002293	T	0.25606	0.0623	L	0.56769	1.78	0.34791	D	0.735769	P	0.49961	0.93	P	0.44860	0.462	T	0.34304	-0.9834	10	0.72032	D	0.01	-12.7232	7.3917	0.26913	0.154:0.138:0.708:0.0	.	582	Q96PX1	RN157_HUMAN	D	582	ENSP00000269391:A582D	ENSP00000269391:A582D	A	-	2	0	RNF157	71662947	0.979000	0.34478	0.067000	0.19924	0.978000	0.69477	5.107000	0.64603	0.092000	0.17331	0.563000	0.77884	GCT		RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732	
SYNJ1	8867	hgsc.bcm.edu	37	21	34004045	34004045	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr21:34004045G>A	ENST00000322229.7	-	31	3981	c.3982C>T	c.(3982-3984)Ctg>Ttg	p.L1328L	SYNJ1_ENST00000382491.3_Silent_p.L1281L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.L1367L|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1328	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTAAATGACAGATCTTCAAAT	0.413																																																	0			21											91.0	89.0	90.0					21																	34004045		2203	4300	6503	32925916	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3982C>T	21.37:g.34004045G>A		Somatic		Capture	Illumina HiSeq	Phase_I	32925916	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1																																																																																				SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
RUNX1	861	hgsc.bcm.edu	37	21	36231789	36231789	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr21:36231789C>T	ENST00000344691.4	-	3	2091	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	RUNX1_ENST00000399240.1_Missense_Mutation_p.G172R|RUNX1_ENST00000358356.5_Missense_Mutation_p.G172R|RUNX1_ENST00000300305.3_Missense_Mutation_p.G199R|RUNX1_ENST00000486278.2_Missense_Mutation_p.G175R|RUNX1_ENST00000325074.5_Missense_Mutation_p.G187R|RUNX1_ENST00000437180.1_Missense_Mutation_p.G199R	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	172	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G199R(2)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCTCGGGGCCCATCCACTGTG	0.557			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																			Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	21											294.0	256.0	269.0					21																	36231789		2203	4300	6503	35153659	SO:0001583	missense	861			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.514G>A	21.37:g.36231789C>T	ENSP00000340690:p.Gly172Arg	Somatic		Capture	Illumina HiSeq	Phase_I	35153659	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698209	0.88830	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.12	5.12	0.69794	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	M	0.91300	3.195	0.80722	D	1	D;D;D;P;P;D;D	0.89917	1.0;1.0;1.0;0.621;0.63;0.998;1.0	D;D;D;B;B;P;D	0.97110	0.996;1.0;0.999;0.367;0.361;0.882;1.0	D	0.96295	0.9217	10	0.87932	D	0	-11.5231	16.0721	0.80941	0.0:1.0:0.0:0.0	.	199;172;172;175;199;187;172	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	R	172;199;199;187;172;175;172;187;175	ENSP00000340690:G172R;ENSP00000300305:G199R;ENSP00000409227:G199R;ENSP00000319459:G187R;ENSP00000382184:G172R;ENSP00000351123:G172R;ENSP00000382182:G187R;ENSP00000438019:G175R	ENSP00000300305:G199R	G	-	1	0	RUNX1	35153659	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	7.486000	0.81215	2.377000	0.81083	0.655000	0.94253	GGG		RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1		
LCA5L	150082	hgsc.bcm.edu	37	21	40778428	40778428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr21:40778428C>A	ENST00000358268.2	-	10	1921	c.1393G>T	c.(1393-1395)Gag>Tag	p.E465*	WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Nonsense_Mutation_p.E465*|LCA5L_ENST00000380671.2_Nonsense_Mutation_p.E465*|LCA5L_ENST00000495240.1_5'UTR			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	465										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGTTCTTGCTCTTCTTTCACA	0.328																																																	0			21											108.0	103.0	105.0					21																	40778428		2202	4299	6501	39700298	SO:0001587	stop_gained	150082			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1393G>T	21.37:g.40778428C>A	ENSP00000351008:p.Glu465*	Somatic		Capture	Illumina HiSeq	Phase_I	39700298	D3DSI0|Q3ZCT0	Nonsense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977593	0.92982	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	.	.	.	4.37	0.305	0.15801	.	0.658236	0.14533	N	0.313724	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-11.9513	1.5455	0.02564	0.1409:0.3487:0.2946:0.2157	.	.	.	.	X	465	.	ENSP00000288350:E465X	E	-	1	0	LCA5L	39700298	0.000000	0.05858	0.001000	0.08648	0.473000	0.32948	-0.265000	0.08644	-0.183000	0.10585	0.467000	0.42956	GAG		LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	
CACNA1H	8912	hgsc.bcm.edu	37	16	1272011	1272011	+	IGR	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr16:1272011C>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.R248H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTGTTGGGGCGGCCGCAGCC	0.667																																																	0			16											25.0	35.0	32.0					16																	1272011		2191	4298	6489	1212012	SO:0001628	intergenic_variant	25823			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1272011C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1212012	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	c	16.16	3.045512	0.55110	.	.	ENSG00000116176	ENST00000234798	D	0.89123	-2.47	4.28	-3.03	0.05429	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90981	0.7164	M	0.65677	2.01	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.82293	-0.0529	9	0.52906	T	0.07	.	6.3073	0.21145	0.0:0.3286:0.1364:0.535	.	248	Q9NRR2	TRYG1_HUMAN	H	248	ENSP00000234798:R248H	ENSP00000234798:R248H	R	-	2	0	TPSG1	1212012	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.742000	0.00378	-0.533000	0.06323	-0.147000	0.13772	CGC		CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
ECI1	1632	hgsc.bcm.edu	37	16	2289989	2289989	+	Missense_Mutation	SNP	T	T	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr16:2289989T>G	ENST00000301729.4	-	7	947	c.900A>C	c.(898-900)gaA>gaC	p.E300D	ECI1_ENST00000562238.1_Missense_Mutation_p.E283D|RP11-304L19.11_ENST00000565709.1_RNA|ECI1_ENST00000570258.1_Missense_Mutation_p.E241D	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	300					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GTTAGCCTTTTTCTTCTTTGA	0.512																																																	0			16											106.0	104.0	105.0					16																	2289989		2198	4300	6498	2229990	SO:0001583	missense	1632				CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.900A>C	16.37:g.2289989T>G	ENSP00000301729:p.Glu300Asp	Somatic		Capture	Illumina HiSeq	Phase_I	2229990	A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Missense_Mutation	SNP	ENST00000301729.4	37	CCDS10464.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523723	0.44866	.	.	ENSG00000167969	ENST00000301729	T	0.63913	-0.07	4.9	-1.82	0.07857	.	0.546966	0.19645	N	0.109347	T	0.32704	0.0838	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.001;0.006	T	0.10222	-1.0639	10	0.51188	T	0.08	-11.8868	3.6218	0.08099	0.2793:0.3119:0.0:0.4088	.	283;300	P42126-2;P42126	.;ECI1_HUMAN	D	300	ENSP00000301729:E300D	ENSP00000301729:E300D	E	-	3	2	ECI1	2229990	0.017000	0.18338	0.000000	0.03702	0.125000	0.20455	-0.070000	0.11523	-0.384000	0.07845	-0.119000	0.15052	GAA		ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1		
USP7	7874	hgsc.bcm.edu	37	16	9024253	9024253	+	Splice_Site	SNP	C	C	A	rs62031302		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr16:9024253C>A	ENST00000344836.4	-	2	279	c.81G>T	c.(79-81)gcG>gcT	p.A27A	USP7_ENST00000566224.1_5'UTR|USP7_ENST00000381886.4_Splice_Site_p.A11A|USP7_ENST00000535863.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	27	Interaction with TSPYL5.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTGTATCTCCCGCTTTAAAGA	0.403																																																	0			16											106.0	81.0	89.0					16																	9024253		2197	4300	6497	8931754	SO:0001630	splice_region_variant	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.80-1G>T	16.37:g.9024253C>A		Somatic		Capture	Illumina HiSeq	Phase_I	8931754	A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	CCDS32385.1																																																																																				USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		Silent
CYLD	1540	hgsc.bcm.edu	37	16	50826584	50826584	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr16:50826584T>A	ENST00000427738.3	+	15	2523	c.2318T>A	c.(2317-2319)cTg>cAg	p.L773Q	CYLD_ENST00000566206.1_Missense_Mutation_p.L770Q|CYLD_ENST00000569418.1_Missense_Mutation_p.L770Q|CYLD_ENST00000540145.1_Missense_Mutation_p.L773Q|CYLD_ENST00000568704.2_Missense_Mutation_p.L588Q|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.L770Q|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.L773Q|CYLD_ENST00000564326.1_Missense_Mutation_p.L770Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	773	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTTCCTTCTCTGGAATTAAAT	0.274			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0			16											36.0	32.0	34.0					16																	50826584		1769	4036	5805	49384085	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2318T>A	16.37:g.50826584T>A	ENSP00000392025:p.Leu773Gln	Somatic		Capture	Illumina HiSeq	Phase_I	49384085	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789019	0.70337	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.29917	1.55;1.55;1.55	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.17561	-1.0365	10	0.21014	T	0.42	-13.2987	15.6083	0.76692	0.0:0.0:0.0:1.0	.	770;770	A8KAB0;Q9NQC7-2	.;.	Q	773;773;770;770	ENSP00000445447:L773Q;ENSP00000308928:L773Q;ENSP00000381574:L770Q	ENSP00000308928:L773Q	L	+	2	0	CYLD	49384085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.638000	0.83328	2.167000	0.68274	0.455000	0.32223	CTG		CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
CDH1	999	hgsc.bcm.edu	37	16	68835630	68835630	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr16:68835630G>A	ENST00000261769.5	+	3	412	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	CDH1_ENST00000422392.2_Missense_Mutation_p.R74Q|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	74					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTCGACACCCGATTCAAAGTG	0.468			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)	16											192.0	174.0	180.0					16																	68835630		2198	4300	6498	67393131	SO:0001583	missense	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.221G>A	16.37:g.68835630G>A	ENSP00000261769:p.Arg74Gln	Somatic		Capture	Illumina HiSeq	Phase_I	67393131	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901183	0.72754	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.43688	0.94;0.94	5.43	3.47	0.39725	Cadherin prodomain-like (1);Cadherin-like (1);	0.214104	0.23710	N	0.045326	T	0.57770	0.2076	M	0.71581	2.175	0.37809	D	0.927992	D;D	0.71674	0.998;0.987	P;P	0.62560	0.904;0.603	T	0.63616	-0.6597	10	0.59425	D	0.04	.	11.0197	0.47711	0.1542:0.0:0.8458:0.0	.	74;74	Q9UII8;P12830	.;CADH1_HUMAN	Q	74	ENSP00000261769:R74Q;ENSP00000414946:R74Q	ENSP00000261769:R74Q	R	+	2	0	CDH1	67393131	0.805000	0.28982	0.994000	0.49952	0.884000	0.51177	1.645000	0.37238	0.774000	0.33427	0.561000	0.74099	CGA		CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
AP1G1	164	hgsc.bcm.edu	37	16	71808376	71808376	+	Silent	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr16:71808376G>T	ENST00000299980.4	-	3	762	c.321C>A	c.(319-321)atC>atA	p.I107I	AP1G1_ENST00000433195.2_Silent_p.I130I|AP1G1_ENST00000569748.1_Silent_p.I107I|AP1G1_ENST00000423132.2_Silent_p.I107I|AP1G1_ENST00000393512.3_Silent_p.I107I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTTACTTCTTGATACAGTTGG	0.378																																																	0			16											143.0	140.0	141.0					16																	71808376		2198	4300	6498	70365877	SO:0001819	synonymous_variant	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.321C>A	16.37:g.71808376G>T		Somatic		Capture	Illumina HiSeq	Phase_I	70365877	O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	CCDS32480.1																																																																																				AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
ZNF521	25925	hgsc.bcm.edu	37	18	22804815	22804815	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr18:22804815C>T	ENST00000361524.3	-	4	3215	c.3067G>A	c.(3067-3069)Gtg>Atg	p.V1023M	ZNF521_ENST00000584787.1_Missense_Mutation_p.V803M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V1023M|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1023					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATGCACACCACGCAGCGAAAG	0.517			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			18											78.0	66.0	70.0					18																	22804815		2203	4300	6503	21058813	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3067G>A	18.37:g.22804815C>T	ENSP00000354794:p.Val1023Met	Somatic		Capture	Illumina HiSeq	Phase_I	21058813	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567208	0.28003	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10288	2.89;2.89	6.17	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.058749	0.64402	D	0.000002	T	0.22859	0.0552	L	0.27053	0.805	0.39314	D	0.965133	D	0.89917	1.0	D	0.91635	0.999	T	0.04991	-1.0913	10	0.48119	T	0.1	-28.1652	17.5212	0.87787	0.0:0.8761:0.1239:0.0	.	1023	Q96K83	ZN521_HUMAN	M	1023;1057;1023	ENSP00000354794:V1023M;ENSP00000382352:V1023M	ENSP00000354794:V1023M	V	-	1	0	ZNF521	21058813	1.000000	0.71417	0.884000	0.34674	0.982000	0.71751	7.487000	0.81328	1.593000	0.50029	0.655000	0.94253	GTG		ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
DSG4	147409	hgsc.bcm.edu	37	18	28983530	28983530	+	Silent	SNP	G	G	A	rs142117600		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr18:28983530G>A	ENST00000308128.4	+	11	1704	c.1569G>A	c.(1567-1569)ccG>ccA	p.P523P	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Silent_p.P523P|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	523					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P523P(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGGGTCTCCGTTTACTTTCT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20205	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	central_nervous_system(1)	18											143.0	131.0	135.0					18																	28983530		2203	4300	6503	27237528	SO:0001819	synonymous_variant	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1569G>A	18.37:g.28983530G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27237528	A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	CCDS11897.1																																																																																				DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
PIK3C3	5289	hgsc.bcm.edu	37	18	39576652	39576652	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr18:39576652T>C	ENST00000262039.4	+	9	1028	c.942T>C	c.(940-942)gaT>gaC	p.D314D	PIK3C3_ENST00000398870.3_Silent_p.D251D	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	314	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|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)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAGAACAAGATCTTGTTTGGA	0.269										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0			18											78.0	85.0	82.0					18																	39576652		2202	4277	6479	37830650	SO:0001819	synonymous_variant	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.942T>C	18.37:g.39576652T>C		Somatic		Capture	Illumina HiSeq	Phase_I	37830650	Q15134	Silent	SNP	ENST00000262039.4	37	CCDS11920.1																																																																																				PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
EPG5	57724	hgsc.bcm.edu	37	18	43531068	43531068	+	Splice_Site	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr18:43531068C>A	ENST00000282041.5	-	4	1423	c.1389G>T	c.(1387-1389)ttG>ttT	p.L463F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	463					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTCCCCTTACCAATTTCTGCA	0.338																																																	0			18											109.0	97.0	101.0					18																	43531068		1846	4097	5943	41785066	SO:0001630	splice_region_variant	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1389+1G>T	18.37:g.43531068C>A		Somatic		Capture	Illumina HiSeq	Phase_I	41785066	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948722	0.92660	.	.	ENSG00000152223	ENST00000282041	D	0.82711	-1.64	5.33	5.33	0.75918	.	0.769173	0.12869	N	0.432465	D	0.90937	0.7151	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88854	0.3321	9	.	.	.	-10.4395	19.3725	0.94493	0.0:1.0:0.0:0.0	.	463;463	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	F	463	ENSP00000282041:L463F	.	L	-	3	2	EPG5	41785066	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.231000	0.78106	2.650000	0.89964	0.561000	0.74099	TTG		EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	Missense_Mutation
SMAD2	4087	hgsc.bcm.edu	37	18	45391501	45391501	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr18:45391501G>A	ENST00000402690.2	-	6	1053	c.659C>T	c.(658-660)aCg>aTg	p.T220M	SMAD2_ENST00000356825.4_Missense_Mutation_p.T190M|SMAD2_ENST00000262160.6_Missense_Mutation_p.T220M|SMAD2_ENST00000586040.1_Missense_Mutation_p.T190M|SMAD2_ENST00000591214.1_Missense_Mutation_p.T190M	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	220					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.T220M(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AGGAGGTGGCGTTTCTACAAA	0.368																																																	1	Substitution - Missense(1)	central_nervous_system(1)	18											88.0	74.0	79.0					18																	45391501		2203	4300	6503	43645499	SO:0001583	missense	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.659C>T	18.37:g.45391501G>A	ENSP00000384449:p.Thr220Met	Somatic		Capture	Illumina HiSeq	Phase_I	43645499		Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918373	0.92249	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97209	-4.29;-4.29;-4.29	5.82	5.82	0.92795	SMAD/FHA domain (1);	0.046520	0.85682	D	0.000000	D	0.98052	0.9358	M	0.84948	2.725	0.80722	D	1	D;B;D	0.59357	0.985;0.318;0.985	P;B;P	0.53224	0.721;0.084;0.613	D	0.98254	1.0495	10	0.56958	D	0.05	.	19.7014	0.96054	0.0:0.0:1.0:0.0	.	190;190;220	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	M	220;190;220	ENSP00000262160:T220M;ENSP00000349282:T190M;ENSP00000384449:T220M	ENSP00000262160:T220M	T	-	2	0	SMAD2	43645499	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.747000	0.98863	2.755000	0.94549	0.591000	0.81541	ACG		SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	
PIGN	23556	hgsc.bcm.edu	37	18	59780514	59780514	+	Silent	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr18:59780514C>T	ENST00000357637.5	-	16	1702	c.1287G>A	c.(1285-1287)ttG>ttA	p.L429L	PIGN_ENST00000400334.3_Silent_p.L429L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	429					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAATCCTTTCAATGCAAGAT	0.333																																																	0			18											96.0	89.0	91.0					18																	59780514		1840	4092	5932	57931494	SO:0001819	synonymous_variant	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.1287G>A	18.37:g.59780514C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57931494	Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	CCDS45879.1																																																																																				PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787	
RAD18	56852	hgsc.bcm.edu	37	3	8983368	8983368	+	Silent	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:8983368C>A	ENST00000264926.2	-	5	503	c.387G>T	c.(385-387)ggG>ggT	p.G129G	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	129					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTAACCTGCTCCCCTGCTTTA	0.393								Rad6 pathway																																									0			3											124.0	128.0	127.0					3																	8983368		2203	4300	6503	8958368	SO:0001819	synonymous_variant	56852				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.387G>T	3.37:g.8983368C>A		Somatic		Capture	Illumina HiSeq	Phase_I	8958368	Q58F55|Q9NRT6	Silent	SNP	ENST00000264926.2	37	CCDS2571.1																																																																																				RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165	
VHL	7428	hgsc.bcm.edu	37	3	10191571	10191571	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:10191571G>A	ENST00000256474.2	+	3	1404	c.564G>A	c.(562-564)ctG>ctA	p.L188L	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Silent_p.L147L	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	188			L -> P (in VHLD; type I-II). {ECO:0000269|PubMed:9829912}.|L -> Q (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|L -> V (in ECYT2, pheochromocytoma and VHLD; type IIA; dbSNP:rs5030824). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:12844285}.		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.D187fs*14(1)|p.E189fs*27(1)|p.E189fs*25(1)|p.Y185fs*11(1)|p.L188L(1)|p.L188>?(1)|p.D187_N193del(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)		ACGAAGATCTGGAAGACCACC	0.502		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"""	7	Deletion - Frameshift(3)|Substitution - coding silent(1)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex(1)	kidney(7)	3											77.0	70.0	72.0					3																	10191571		2203	4300	6503	10166571	SO:0001819	synonymous_variant	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.564G>A	3.37:g.10191571G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10166571	B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
LRRFIP2	9209	hgsc.bcm.edu	37	3	37125235	37125235	+	Silent	SNP	G	G	A	rs576073289		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:37125235G>A	ENST00000336686.4	-	19	1250	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	LRRFIP2_ENST00000396428.2_Silent_p.D206D|LRRFIP2_ENST00000440230.1_Silent_p.D158D|LRRFIP2_ENST00000421276.2_Silent_p.D158D|LRRFIP2_ENST00000354379.4_Silent_p.D134D|LRRFIP2_ENST00000421307.1_Silent_p.D390D			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	390					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.D390D(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCTTCTCATTGTCTAACTGTG	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		18328	0.001		0.0	False		,,,				2504	0.0																2	Whole gene deletion(1)|Substitution - coding silent(1)	ovary(2)	3											198.0	187.0	191.0					3																	37125235		2203	4300	6503	37100239	SO:0001819	synonymous_variant	9209			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1170C>T	3.37:g.37125235G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37100239	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	ENST00000336686.4	37	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181639	0.21787	.	.	ENSG00000093167	ENST00000440742	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0785	14.1881	0.65620	0.0712:0.0:0.9288:0.0	.	.	.	.	X	3	.	.	Q	-	1	0	LRRFIP2	37100239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.978000	0.49305	2.733000	0.93635	0.561000	0.74099	CAA		LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	
OXSR1	9943	hgsc.bcm.edu	37	3	38292940	38292940	+	Silent	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:38292940C>T	ENST00000311806.3	+	16	1794	c.1422C>T	c.(1420-1422)gtC>gtT	p.V474V		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGGCCTGGTCGACGGAAGGG	0.448																																																	0			3											311.0	280.0	291.0					3																	38292940		2203	4300	6503	38267944	SO:0001819	synonymous_variant	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1422C>T	3.37:g.38292940C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38267944		Silent	SNP	ENST00000311806.3	37	CCDS2675.1																																																																																				OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109	
CCR9	10803	hgsc.bcm.edu	37	3	45943063	45943063	+	Silent	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:45943063C>T	ENST00000357632.2	+	3	963	c.783C>T	c.(781-783)acC>acT	p.T261T	CCR9_ENST00000355983.2_Silent_p.T249T|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.T249T|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	261					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.T261T(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CTGTCCTGACCGTCTTTGTCT	0.473																																																	1	Substitution - coding silent(1)	ovary(1)	3											216.0	176.0	189.0					3																	45943063		2203	4300	6503	45918067	SO:0001819	synonymous_variant	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.783C>T	3.37:g.45943063C>T		Somatic		Capture	Illumina HiSeq	Phase_I	45918067	Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	CCDS2732.1																																																																																				CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
P4HTM	54681	hgsc.bcm.edu	37	3	49044280	49044280	+	Silent	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:49044280C>A	ENST00000383729.4	+	9	1820	c.1449C>A	c.(1447-1449)acC>acA	p.T483T	WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Silent_p.T544T|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	483						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	AAGGGGGCACCGACTCACAGC	0.657																																																	0			3											28.0	31.0	30.0					3																	49044280		2203	4300	6503	49019284	SO:0001819	synonymous_variant	54681				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1449C>A	3.37:g.49044280C>A		Somatic		Capture	Illumina HiSeq	Phase_I	49019284	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	CCDS43089.1																																																																																				P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938	
WDR6	11180	hgsc.bcm.edu	37	3	49052280	49052280	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:49052280T>C	ENST00000608424.1	+	6	2964	c.2925T>C	c.(2923-2925)acT>acC	p.T975T	WDR6_ENST00000415265.2_Silent_p.T423T|DALRD3_ENST00000496568.1_5'Flank|WDR6_ENST00000395474.3_Silent_p.T1005T|WDR6_ENST00000448293.1_Silent_p.T924T			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	975					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTCCCTGACTCTCCAGGCCC	0.622																																																	0			3											79.0	85.0	83.0					3																	49052280		2203	4300	6503	49027284	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2925T>C	3.37:g.49052280T>C		Somatic		Capture	Illumina HiSeq	Phase_I	49027284	B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	ENST00000608424.1	37																																																																																					WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1		
UBA7	7318	hgsc.bcm.edu	37	3	49848739	49848739	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:49848739C>T	ENST00000333486.3	-	9	1247	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	363	2 approximate repeats.			GVLSPMVAMLGAVAAQEVLKAISR -> RCLEPMVACWVSS CPGSAEGNLQ (in Ref. 1; AAA75388 and 2; AAG49557). {ECO:0000305}.	cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.M363I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCACCCAGCATGGCCACCA	0.597																																																	1	Substitution - Missense(1)	large_intestine(1)	3											121.0	102.0	109.0					3																	49848739		2203	4300	6503	49823743	SO:0001583	missense	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1089G>A	3.37:g.49848739C>T	ENSP00000333266:p.Met363Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49823743	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	9.101	1.004172	0.19199	.	.	ENSG00000182179	ENST00000333486	T	0.32023	1.47	5.76	-2.74	0.05932	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	1.010520	0.07901	N	0.972595	T	0.09379	0.0231	N	0.02379	-0.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24083	-1.0170	10	0.34782	T	0.22	0.3312	0.5062	0.00588	0.2301:0.326:0.1577:0.2862	.	363	P41226	UBA7_HUMAN	I	363	ENSP00000333266:M363I	ENSP00000333266:M363I	M	-	3	0	UBA7	49823743	0.000000	0.05858	0.021000	0.16686	0.373000	0.29922	-0.334000	0.07883	-0.192000	0.10432	0.462000	0.41574	ATG		UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335	
NISCH	11188	hgsc.bcm.edu	37	3	52522565	52522565	+	Silent	SNP	G	G	T	rs374429650		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:52522565G>T	ENST00000479054.1	+	17	3129	c.3057G>T	c.(3055-3057)acG>acT	p.T1019T	NISCH_ENST00000345716.4_Silent_p.T1019T			Q9Y2I1	NISCH_HUMAN	nischarin	1019					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCCCGGGACGGGAGGCAGCC	0.677																																																	0			3											27.0	30.0	29.0					3																	52522565		2203	4299	6502	52497605	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3057G>T	3.37:g.52522565G>T		Somatic		Capture	Illumina HiSeq	Phase_I	52497605	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	CCDS33767.1																																																																																				NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	
PRKCD	5580	hgsc.bcm.edu	37	3	53212456	53212456	+	Silent	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:53212456C>T	ENST00000394729.2	+	2	346	c.18C>T	c.(16-18)cgC>cgT	p.R6R	PRKCD_ENST00000330452.3_Silent_p.R6R|PRKCD_ENST00000477794.2_3'UTR	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	6	C2.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CGTTCCTGCGCATCGCCTTCA	0.677																																																	0			3											45.0	42.0	43.0					3																	53212456		2203	4300	6503	53187496	SO:0001819	synonymous_variant	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.18C>T	3.37:g.53212456C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53187496	B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	CCDS2870.1																																																																																				PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1		
OR5K2	402135	hgsc.bcm.edu	37	3	98216960	98216960	+	Missense_Mutation	SNP	A	A	G	rs150442894		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:98216960A>G	ENST00000427338.1	+	1	513	c.436A>G	c.(436-438)Aca>Gca	p.T146A	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCAGATGACCACAGGCGCCTT	0.458																																																	0			3											141.0	143.0	142.0					3																	98216960		2203	4300	6503	99699650	SO:0001583	missense	402135			AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.436A>G	3.37:g.98216960A>G	ENSP00000393889:p.Thr146Ala	Somatic		Capture	Illumina HiSeq	Phase_I	99699650	B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	A	0.035	-1.314158	0.01331	.	.	ENSG00000231861	ENST00000427338	T	0.33438	1.41	2.87	1.67	0.24075	GPCR, rhodopsin-like superfamily (1);	0.527844	0.15802	N	0.243912	T	0.10252	0.0251	N	0.03209	-0.39	0.09310	N	0.999995	B	0.09022	0.002	B	0.17979	0.02	T	0.37126	-0.9719	10	0.02654	T	1	-2.8453	6.8357	0.23935	0.7924:0.0:0.0:0.2076	.	146	Q8NHB8	OR5K2_HUMAN	A	146	ENSP00000393889:T146A	ENSP00000393889:T146A	T	+	1	0	OR5K2	99699650	0.017000	0.18338	0.581000	0.28614	0.604000	0.37047	-0.260000	0.08708	0.485000	0.27652	0.248000	0.18094	ACA		OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2		
PPP2R3A	5523	hgsc.bcm.edu	37	3	135722029	135722029	+	Silent	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:135722029C>T	ENST00000264977.3	+	2	2306	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	563					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCTCTTCACCCATAGAAAAAG	0.408																																																	0			3											58.0	59.0	59.0					3																	135722029		2203	4299	6502	137204719	SO:0001819	synonymous_variant	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1689C>T	3.37:g.135722029C>T		Somatic		Capture	Illumina HiSeq	Phase_I	137204719	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	CCDS3087.1																																																																																				PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718	
PIK3CA	5290	hgsc.bcm.edu	37	3	178916891	178916891	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:178916891G>A	ENST00000263967.3	+	2	435	c.278G>A	c.(277-279)cGg>cAg	p.R93Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	93	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				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)	p.R93Q(11)		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)	TGTGACCTTCGGCTTTTTCAA	0.343		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"""	11	Substitution - Missense(11)	endometrium(11)	3											102.0	98.0	99.0					3																	178916891		1821	4076	5897	180399585	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.278G>A	3.37:g.178916891G>A	ENSP00000263967:p.Arg93Gln	Somatic		Capture	Illumina HiSeq	Phase_I	180399585	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278752	0.80692	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73681	-0.77;-0.77	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.80636	-0.1294	9	.	.	.	-9.1625	19.4271	0.94746	0.0:0.0:1.0:0.0	.	93	P42336	PK3CA_HUMAN	Q	93	ENSP00000263967:R93Q;ENSP00000417479:R93Q	.	R	+	2	0	PIK3CA	180399585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.584000	0.87258	0.555000	0.69702	CGG		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
CHRD	8646	hgsc.bcm.edu	37	3	184104655	184104655	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:184104655C>T	ENST00000204604.1	+	17	2465	c.2219C>T	c.(2218-2220)cCg>cTg	p.P740L	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.P282L|CHRD_ENST00000348986.3_Missense_Mutation_p.P700L|CHRD_ENST00000450923.1_Missense_Mutation_p.P740L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	740	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCTGTGACCCGGTGGTGTGC	0.662																																																	0			3											56.0	45.0	49.0					3																	184104655		2203	4300	6503	185587349	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2219C>T	3.37:g.184104655C>T	ENSP00000204604:p.Pro740Leu	Somatic		Capture	Illumina HiSeq	Phase_I	185587349	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109587	0.77096	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.14	4.44	4.44	0.53790	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	M	0.69823	2.125	0.44946	D	0.997966	D;D;D;D	0.89917	0.996;1.0;0.997;1.0	P;D;D;D	0.78314	0.843;0.985;0.931;0.991	T	0.81289	-0.1000	10	0.35671	T	0.21	-14.8595	14.9202	0.70832	0.0:1.0:0.0:0.0	.	282;700;740;740	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	L	740;740;700;282;453	ENSP00000204604:P740L;ENSP00000408972:P740L;ENSP00000334036:P700L;ENSP00000442948:P282L	ENSP00000204604:P740L	P	+	2	0	CHRD	185587349	1.000000	0.71417	0.914000	0.36105	0.638000	0.38207	7.075000	0.76798	2.181000	0.69327	0.462000	0.41574	CCG		CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
IQCG	84223	hgsc.bcm.edu	37	3	197659160	197659160	+	Missense_Mutation	SNP	C	C	T	rs67877771	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:197659160C>T	ENST00000265239.6	-	6	953	c.529G>A	c.(529-531)Gat>Aat	p.D177N	IQCG_ENST00000453254.1_Missense_Mutation_p.D177N|IQCG_ENST00000455191.1_Missense_Mutation_p.D177N	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	177				D -> H (in Ref. 4; AAH04816). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GCAATCACATCGCTGAAAAAC	0.428																																																	0			3											107.0	101.0	103.0					3																	197659160		2203	4300	6503	199143557	SO:0001583	missense	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.529G>A	3.37:g.197659160C>T	ENSP00000265239:p.Asp177Asn	Somatic		Capture	Illumina HiSeq	Phase_I	199143557	Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630917	0.28978	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.55052	0.83;0.83;0.81;0.54	4.81	2.88	0.33553	.	0.205977	0.38837	N	0.001547	T	0.42698	0.1214	M	0.75264	2.295	0.35713	D	0.816549	P;P	0.45474	0.859;0.648	B;B	0.33568	0.166;0.091	T	0.53265	-0.8463	10	0.30078	T	0.28	-14.1493	7.1513	0.25612	0.0:0.7581:0.0:0.2419	.	177;177	C9JKX8;Q9H095	.;IQCG_HUMAN	N	177;177;177;158	ENSP00000265239:D177N;ENSP00000407736:D177N;ENSP00000389897:D177N;ENSP00000406411:D158N	ENSP00000265239:D177N	D	-	1	0	IQCG	199143557	0.961000	0.32948	0.987000	0.45799	0.493000	0.33554	1.099000	0.31013	1.073000	0.40885	0.460000	0.39030	GAT		IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263	
CD163L1	283316	hgsc.bcm.edu	37	12	7586046	7586046	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:7586046A>G	ENST00000313599.3	-	3	426	c.369T>C	c.(367-369)gcT>gcC	p.A123A	CD163L1_ENST00000396630.1_Silent_p.A123A|CD163L1_ENST00000416109.2_Silent_p.A123A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	123	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.A123A(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTCCCAGAGAGCTGACTCAT	0.423																																																	1	Substitution - coding silent(1)	ovary(1)	12											109.0	103.0	105.0					12																	7586046		2203	4300	6503	7477313	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.369T>C	12.37:g.7586046A>G		Somatic		Capture	Illumina HiSeq	Phase_I	7477313	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
LRP6	4040	hgsc.bcm.edu	37	12	12303771	12303771	+	Splice_Site	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:12303771T>C	ENST00000261349.4	-	13	3069	c.2993A>G	c.(2992-2994)cAg>cGg	p.Q998R	LRP6_ENST00000543091.1_Splice_Site_p.Q998R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	998	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Q998R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTCAATTACCTGGCTGCCATC	0.448																																																	1	Substitution - Missense(1)	lung(1)	12											215.0	195.0	202.0					12																	12303771		2203	4300	6503	12195038	SO:0001630	splice_region_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2994+1A>G	12.37:g.12303771T>C		Somatic		Capture	Illumina HiSeq	Phase_I	12195038	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014912	0.75161	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91011	-2.77;-2.77	5.74	5.74	0.90152	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000017	D	0.88149	0.6359	L	0.52126	1.63	0.80722	D	1	B;B	0.26445	0.077;0.149	B;B	0.30495	0.042;0.116	D	0.84421	0.0571	10	0.16896	T	0.51	.	16.0257	0.80541	0.0:0.0:0.0:1.0	.	998;998	F5H7J9;O75581	.;LRP6_HUMAN	R	998	ENSP00000261349:Q998R;ENSP00000442472:Q998R	ENSP00000261349:Q998R	Q	-	2	0	LRP6	12195038	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.768000	0.62293	2.187000	0.69744	0.482000	0.46254	CAG		LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		Missense_Mutation
ATF7IP	55729	hgsc.bcm.edu	37	12	14650919	14650919	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:14650919C>A	ENST00000540793.1	+	14	3880	c.3725C>A	c.(3724-3726)gCa>gAa	p.A1242E	ATF7IP_ENST00000544627.1_Missense_Mutation_p.A1250E|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A1241E|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A1242E			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1242	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TACTACTTTGCAGTACGAGCC	0.468																																																	0			12											151.0	142.0	145.0					12																	14650919		2203	4300	6503	14542186	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3725C>A	12.37:g.14650919C>A	ENSP00000444589:p.Ala1242Glu	Somatic		Capture	Illumina HiSeq	Phase_I	14542186	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048773	0.93740	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.57359	0.2048	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54057	-0.8350	10	0.87932	D	0	-25.1396	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1241;1242	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	E	1242;1241;1250;1242	ENSP00000261168:A1242E;ENSP00000445955:A1241E;ENSP00000440440:A1250E;ENSP00000444589:A1242E	ENSP00000261168:A1242E	A	+	2	0	ATF7IP	14542186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.941000	0.99782	0.655000	0.94253	GCA		ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
KRAS	3845	hgsc.bcm.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	12											88.0	78.0	82.0					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp	Somatic		Capture	Illumina HiSeq	Phase_I	25289548	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
LRRK2	120892	hgsc.bcm.edu	37	12	40692100	40692100	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:40692100C>T	ENST00000298910.7	+	24	3210	c.3152C>T	c.(3151-3153)cCt>cTt	p.P1051L	LRRK2_ENST00000343742.2_Missense_Mutation_p.P1051L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1051					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACATCATTTCCTTCTTATTTG	0.343																																																	0			12											127.0	125.0	126.0					12																	40692100		2203	4300	6503	38978367	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3152C>T	12.37:g.40692100C>T	ENSP00000298910:p.Pro1051Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38978367	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680480	0.68042	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.35973	1.51;1.28	5.74	5.74	0.90152	.	0.116756	0.64402	D	0.000014	T	0.75102	0.3804	H	0.97051	3.93	0.80722	D	1	D;B	0.89917	1.0;0.372	D;B	0.85130	0.997;0.082	D	0.83551	0.0101	10	0.87932	D	0	.	19.9044	0.97001	0.0:1.0:0.0:0.0	.	1051;1051	E9PC85;Q5S007	.;LRRK2_HUMAN	L	1051	ENSP00000341930:P1051L;ENSP00000298910:P1051L	ENSP00000298910:P1051L	P	+	2	0	LRRK2	38978367	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.000000	0.76290	2.696000	0.92011	0.655000	0.94253	CCT		LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
ADAMTS20	80070	hgsc.bcm.edu	37	12	43771221	43771221	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:43771221A>G	ENST00000389420.3	-	32	4941	c.4942T>C	c.(4942-4944)Tgc>Cgc	p.C1648R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1648	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGTTAATGCATTGGTAAACC	0.408																																																	0			12											110.0	99.0	103.0					12																	43771221		2203	4300	6503	42057488	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4942T>C	12.37:g.43771221A>G	ENSP00000374071:p.Cys1648Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42057488	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922278	0.52653	.	.	ENSG00000173157	ENST00000389420	T	0.59906	0.23	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000025	T	0.74253	0.3692	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72769	-0.4193	10	0.28530	T	0.3	.	15.3961	0.74794	1.0:0.0:0.0:0.0	.	1648	P59510	ATS20_HUMAN	R	1648	ENSP00000374071:C1648R	ENSP00000374071:C1648R	C	-	1	0	ADAMTS20	42057488	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	6.539000	0.73856	2.187000	0.69744	0.533000	0.62120	TGC		ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
HDAC7	51564	hgsc.bcm.edu	37	12	48189107	48189107	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:48189107G>A	ENST00000427332.2	-	11	1183	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	HDAC7_ENST00000552960.1_Missense_Mutation_p.R365W|HDAC7_ENST00000380610.4_Missense_Mutation_p.R399W|HDAC7_ENST00000080059.7_Missense_Mutation_p.R382W|HDAC7_ENST00000354334.3_Missense_Mutation_p.R345W			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	343	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|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 kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCAGAGAGCCGCTCGGTGGTC	0.677																																																	0			12											13.0	17.0	16.0					12																	48189107		2196	4280	6476	46475374	SO:0001583	missense	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1027C>T	12.37:g.48189107G>A	ENSP00000404394:p.Arg343Trp	Somatic		Capture	Illumina HiSeq	Phase_I	46475374	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.938622	0.73557	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.68624	-0.25;-0.13;-0.24;-0.32;-0.34	4.51	3.62	0.41486	.	0.684461	0.14498	N	0.315902	T	0.73853	0.3640	M	0.65975	2.015	0.40242	D	0.977972	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.53224	0.721;0.721;0.721	T	0.77153	-0.2692	10	0.87932	D	0	.	13.1009	0.59219	0.0:0.0:0.8383:0.1617	.	382;365;345	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	W	382;345;365;399;343	ENSP00000080059:R382W;ENSP00000351326:R345W;ENSP00000448532:R365W;ENSP00000369984:R399W;ENSP00000404394:R343W	ENSP00000080059:R382W	R	-	1	2	HDAC7	46475374	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.696000	0.54757	1.246000	0.43901	-0.268000	0.10319	CGG		HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2		
KMT2D	8085	hgsc.bcm.edu	37	12	49416545	49416545	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:49416545C>T	ENST00000301067.7	-	51	16165	c.16166G>A	c.(16165-16167)cGg>cAg	p.R5389Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5389					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCGCAGCCGCCGGTACTGAGA	0.557																																																	0			12											104.0	116.0	112.0					12																	49416545		2086	4220	6306	47702812	SO:0001583	missense	9757			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16166G>A	12.37:g.49416545C>T	ENSP00000301067:p.Arg5389Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47702812	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433569	0.62955	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.86497	-2.13;-2.13	5.09	5.09	0.68999	.	0.000000	0.32640	N	0.005833	D	0.91365	0.7276	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92209	0.5774	10	0.87932	D	0	.	17.6392	0.88130	0.0:1.0:0.0:0.0	.	5389	O14686	MLL2_HUMAN	Q	5389;70	ENSP00000301067:R5389Q;ENSP00000435714:R70Q	ENSP00000301067:R5389Q	R	-	2	0	MLL2	47702812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.546000	0.85860	0.591000	0.81541	CGG		KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
DIP2B	57609	hgsc.bcm.edu	37	12	51069160	51069160	+	Missense_Mutation	SNP	A	A	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:51069160A>T	ENST00000301180.5	+	7	879	c.845A>T	c.(844-846)aAc>aTc	p.N282I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	282						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGCTTCTGAACACTCTGAAA	0.348																																																	0			12											89.0	92.0	91.0					12																	51069160		2203	4300	6503	49355427	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.845A>T	12.37:g.51069160A>T	ENSP00000301180:p.Asn282Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49355427	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580547	0.86645	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.45276	0.9	5.03	5.03	0.67393	.	0.040269	0.85682	D	0.000000	T	0.65933	0.2739	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69045	-0.5249	10	0.48119	T	0.1	-18.4275	14.9228	0.70854	1.0:0.0:0.0:0.0	.	282;292	Q9P265;E9PHD6	DIP2B_HUMAN;.	I	292;282	ENSP00000301180:N282I	ENSP00000301180:N282I	N	+	2	0	DIP2B	49355427	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.083000	0.71326	2.106000	0.64143	0.460000	0.39030	AAC		DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
CSAD	51380	hgsc.bcm.edu	37	12	53552447	53552447	+	Missense_Mutation	SNP	G	G	A	rs374597733		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:53552447G>A	ENST00000444623.1	-	17	1597	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	CSAD_ENST00000379846.1_Missense_Mutation_p.R297C|CSAD_ENST00000379843.3_Missense_Mutation_p.R297C|CSAD_ENST00000267085.4_Missense_Mutation_p.R471C|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Missense_Mutation_p.R444C	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	444					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.R444C(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	TTCACCATGCGCTCCTTGAGC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18748	0.0		0.0	False		,,,				2504	0.0				Ovarian(109;252 1546 16882 28524 44645)												1	Substitution - Missense(1)	large_intestine(1)	12											53.0	41.0	45.0					12																	53552447		2203	4300	6503	51838714	SO:0001583	missense	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1330C>T	12.37:g.53552447G>A	ENSP00000415485:p.Arg444Cys	Somatic		Capture	Illumina HiSeq	Phase_I	51838714	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.004875|4.004875	0.74932|0.74932	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000379850|ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	.|T;T;T;T;T	.|0.42131	.|0.98;0.98;0.98;0.98;0.98	4.49|4.49	4.49|4.49	0.54785|0.54785	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65080|0.65080	0.2657|0.2657	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.989;0.999	.|P;P;P	.|0.62491	.|0.89;0.779;0.903	T|T	0.71451|0.71451	-0.4589|-0.4589	5|10	.|0.72032	.|D	.|0.01	-15.5893|-15.5893	10.233|10.233	0.43266|0.43266	0.0:0.0:0.6914:0.3086|0.0:0.0:0.6914:0.3086	.|.	.|471;444;297	.|Q9Y600-3;Q9Y600;Q9Y600-2	.|.;CSAD_HUMAN;.	V|C	469|533;297;471;297;444;405;444	.|ENSP00000369172:R297C;ENSP00000267085:R471C;ENSP00000369175:R297C;ENSP00000415485:R444C;ENSP00000410648:R444C	.|ENSP00000267085:R471C	A|R	-|-	2|1	0|0	CSAD|CSAD	51838714|51838714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	2.630000|2.630000	0.46494|0.46494	2.505000|2.505000	0.84491|0.84491	0.442000|0.442000	0.29010|0.29010	GCG|CGC		CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989	
PPFIA2	8499	hgsc.bcm.edu	37	12	82147821	82147821	+	Silent	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr12:82147821C>T	ENST00000549396.1	-	3	340	c.180G>A	c.(178-180)caG>caA	p.Q60Q	PPFIA2_ENST00000548586.1_Silent_p.Q60Q|PPFIA2_ENST00000549325.1_Silent_p.Q60Q|PPFIA2_ENST00000552948.1_Silent_p.Q60Q|PPFIA2_ENST00000333447.7_Silent_p.Q60Q|PPFIA2_ENST00000550584.2_Silent_p.Q60Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	60					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAAGTCTTTGCTGGGCAAGTG	0.502																																																	0			12											61.0	64.0	63.0					12																	82147821		1951	4144	6095	80671952	SO:0001819	synonymous_variant	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.180G>A	12.37:g.82147821C>T		Somatic		Capture	Illumina HiSeq	Phase_I	80671952	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1																																																																																				PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
SECISBP2L	9728	hgsc.bcm.edu	37	15	49284715	49284715	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr15:49284715A>G	ENST00000559471.1	-	18	3295	c.3032T>C	c.(3031-3033)gTg>gCg	p.V1011A	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.V966A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1011							poly(A) RNA binding (GO:0044822)	p.V966E(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATTGAGCTGCACTTCTACAGA	0.443																																																	1	Substitution - Missense(1)	breast(1)	15											85.0	83.0	83.0					15																	49284715		2197	4295	6492	47072007	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.3032T>C	15.37:g.49284715A>G	ENSP00000453854:p.Val1011Ala	Somatic		Capture	Illumina HiSeq	Phase_I	47072007	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696571	0.68386	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.73897	-0.79	5.19	5.19	0.71726	.	0.153691	0.45867	D	0.000329	T	0.75627	0.3875	N	0.24115	0.695	0.39308	D	0.965024	P;D	0.61697	0.824;0.99	B;D	0.73380	0.239;0.98	T	0.73322	-0.4019	10	0.21540	T	0.41	.	13.7729	0.63036	1.0:0.0:0.0:0.0	.	1011;966	Q93073;Q93073-2	SBP2L_HUMAN;.	A	966;1011	ENSP00000261847:V966A	ENSP00000261847:V966A	V	-	2	0	SECISBP2L	47072007	1.000000	0.71417	0.953000	0.39169	0.961000	0.63080	7.759000	0.85235	2.183000	0.69458	0.533000	0.62120	GTG		SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
MNS1	55329	hgsc.bcm.edu	37	15	56721366	56721366	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr15:56721366A>G	ENST00000260453.3	-	10	1585	c.1421T>C	c.(1420-1422)aTt>aCt	p.I474T	MNS1_ENST00000566386.1_5'UTR|TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	474					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.I474T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AAGCAGATCAATATCATCCTC	0.313																																																	1	Substitution - Missense(1)	ovary(1)	15											96.0	91.0	93.0					15																	56721366		2191	4285	6476	54508658	SO:0001583	missense	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1421T>C	15.37:g.56721366A>G	ENSP00000260453:p.Ile474Thr	Somatic		Capture	Illumina HiSeq	Phase_I	54508658	Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929003	0.52759	.	.	ENSG00000138587	ENST00000260453	T	0.14640	2.49	6.08	6.08	0.98989	.	0.672261	0.15854	N	0.241362	T	0.14570	0.0352	L	0.44542	1.39	0.32864	D	0.508349	B	0.32245	0.361	B	0.25140	0.058	T	0.09037	-1.0693	10	0.59425	D	0.04	-1.9293	15.8323	0.78764	1.0:0.0:0.0:0.0	.	474	Q8NEH6	MNS1_HUMAN	T	474	ENSP00000260453:I474T	ENSP00000260453:I474T	I	-	2	0	MNS1	54508658	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	6.099000	0.71466	2.333000	0.79357	0.482000	0.46254	ATT		MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365	
HEXA	3073	hgsc.bcm.edu	37	15	72638893	72638893	+	Nonsense_Mutation	SNP	G	G	T	rs587779406		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr15:72638893G>T	ENST00000268097.5	-	11	1808	c.1305C>A	c.(1303-1305)taC>taA	p.Y435*	HEXA_ENST00000567159.1_Nonsense_Mutation_p.Y435*|HEXA_ENST00000457859.2_Intron|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Nonsense_Mutation_p.Y446*|HEXA_ENST00000429918.2_Nonsense_Mutation_p.Y262*|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	435					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.Y435Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GTTCCACTATGTAGAAATCCT	0.572																																																	1	Substitution - coding silent(1)	ovary(1)	15											101.0	109.0	107.0					15																	72638893		2199	4297	6496	70425947	SO:0001587	stop_gained	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1305C>A	15.37:g.72638893G>T	ENSP00000268097:p.Tyr435*	Somatic		Capture	Illumina HiSeq	Phase_I	70425947	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Nonsense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	G	38	6.762285	0.97821	.	.	ENSG00000213614	ENST00000268097;ENST00000429918	.	.	.	5.88	2.7	0.31948	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1925	9.9799	0.41806	0.3062:0.0:0.6938:0.0	.	.	.	.	X	435;262	.	ENSP00000268097:Y435X	Y	-	3	2	HEXA	70425947	1.000000	0.71417	0.067000	0.19924	0.922000	0.55478	3.432000	0.52824	0.267000	0.21916	0.655000	0.94253	TAC		HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	
NTRK3	4916	hgsc.bcm.edu	37	15	88472472	88472472	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr15:88472472T>A	ENST00000360948.2	-	16	2244	c.2083A>T	c.(2083-2085)Att>Ttt	p.I695F	NTRK3_ENST00000557856.1_Missense_Mutation_p.I687F|NTRK3_ENST00000355254.2_Missense_Mutation_p.I695F|NTRK3_ENST00000394480.2_Missense_Mutation_p.I695F|NTRK3_ENST00000357724.2_Missense_Mutation_p.I687F|NTRK3_ENST00000558676.1_Missense_Mutation_p.I687F|NTRK3_ENST00000542733.2_Missense_Mutation_p.I597F	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	695	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I695V(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGTCCCCAATCTTCACTAGC	0.557			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	1	Substitution - Missense(1)	large_intestine(1)	15											111.0	102.0	105.0					15																	88472472		2201	4299	6500	86273476	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2083A>T	15.37:g.88472472T>A	ENSP00000354207:p.Ile695Phe	Somatic		Capture	Illumina HiSeq	Phase_I	86273476	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.729113	0.89390	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	5.16	5.16	0.70880	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	0.97380	0.9143	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.97;0.999;0.97	D;D;D;D;D	0.87578	0.998;0.996;0.927;0.994;0.927	D	0.98591	1.0654	10	0.87932	D	0	.	14.1992	0.65690	0.0:0.0:0.0:1.0	.	597;687;687;695;695	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	F	695;695;687;695;597	ENSP00000377990:I695F;ENSP00000354207:I695F;ENSP00000350356:I687F;ENSP00000347397:I695F;ENSP00000437773:I597F	ENSP00000347397:I695F	I	-	1	0	NTRK3	86273476	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.853000	0.86934	1.952000	0.56665	0.533000	0.62120	ATT		NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
ATXN3L	92552	hgsc.bcm.edu	37	X	13337616	13337616	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:13337616T>C	ENST00000380622.2	-	1	902	c.438A>G	c.(436-438)acA>acG	p.T146T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	146	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.T146T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGCAAGGCATGTATCTGATA	0.373																																																	1	Substitution - coding silent(1)	ovary(1)	X											65.0	61.0	62.0					X																	13337616		1568	3582	5150	13247537	SO:0001819	synonymous_variant	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.438A>G	X.37:g.13337616T>C		Somatic		Capture	Illumina HiSeq	Phase_I	13247537	B2RNY8	Silent	SNP	ENST00000380622.2	37	CCDS48080.1																																																																																				ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995	
GPR64	10149	hgsc.bcm.edu	37	X	19039316	19039316	+	Splice_Site	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:19039316G>A	ENST00000379869.3	-	14	712	c.549C>T	c.(547-549)agC>agT	p.S183S	GPR64_ENST00000360279.4_Splice_Site_p.S161S|GPR64_ENST00000379878.3_Splice_Site_p.S167S|GPR64_ENST00000357544.3_Splice_Site_p.S153S|GPR64_ENST00000340581.3_Splice_Site_p.S153S|GPR64_ENST00000356606.4_Splice_Site_p.S169S|GPR64_ENST00000354791.3_Splice_Site_p.S167S|GPR64_ENST00000379876.1_Splice_Site_p.S159S|GPR64_ENST00000379873.2_Splice_Site_p.S183S|GPR64_ENST00000357991.3_Splice_Site_p.S180S	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	183					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AATTTAATGTGCTGTAAGGAG	0.338																																																	0			X											106.0	87.0	93.0					X																	19039316		2203	4298	6501	18949237	SO:0001630	splice_region_variant	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.549-1C>T	X.37:g.19039316G>A		Somatic		Capture	Illumina HiSeq	Phase_I	18949237	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112062	0.37242	.	.	ENSG00000173698	ENST00000397917	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.72946	0.3524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75428	-0.3321	5	0.62326	D	0.03	.	12.9938	0.58635	0.0:0.0:1.0:0.0	.	.	.	.	Y	107	.	ENSP00000381013:H107Y	H	-	1	0	GPR64	18949237	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.168000	0.58216	2.466000	0.83321	0.594000	0.82650	CAC		GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		Silent
ZNF645	158506	hgsc.bcm.edu	37	X	22291524	22291524	+	Missense_Mutation	SNP	A	A	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:22291524A>T	ENST00000323684.1	+	1	460	c.416A>T	c.(415-417)aAg>aTg	p.K139M		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	139	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CGCCGCCATAAGAGAGCTCGA	0.433																																																	0			X											62.0	59.0	60.0					X																	22291524		2203	4300	6503	22201445	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.416A>T	X.37:g.22291524A>T	ENSP00000323348:p.Lys139Met	Somatic		Capture	Illumina HiSeq	Phase_I	22201445	A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	A	2.352	-0.348645	0.05208	.	.	ENSG00000175809	ENST00000323684	T	0.27402	1.67	3.52	-3.66	0.04489	Zinc finger, C2H2 (1);	0.402514	0.26571	N	0.023637	T	0.08891	0.0220	N	0.12887	0.27	0.09310	N	1	B	0.33044	0.395	B	0.33042	0.157	T	0.36720	-0.9736	10	0.02654	T	1	.	1.4357	0.02343	0.2231:0.3067:0.318:0.1522	.	139	Q8N7E2	ZN645_HUMAN	M	139	ENSP00000323348:K139M	ENSP00000323348:K139M	K	+	2	0	ZNF645	22201445	1.000000	0.71417	0.000000	0.03702	0.005000	0.04900	1.081000	0.30791	-0.932000	0.03742	0.430000	0.28490	AAG		ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577	
FAM120C	54954	hgsc.bcm.edu	37	X	54106713	54106713	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:54106713T>C	ENST00000375180.2	-	15	3044	c.2988A>G	c.(2986-2988)aaA>aaG	p.K996K	FAM120C_ENST00000328235.4_Missense_Mutation_p.K859R	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	996							poly(A) RNA binding (GO:0044822)	p.K996N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAGTCTGTTCTTTTCCATGCC	0.368																																																	1	Substitution - Missense(1)	ovary(1)	X											163.0	137.0	146.0					X																	54106713		2203	4300	6503	54123438	SO:0001819	synonymous_variant	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2988A>G	X.37:g.54106713T>C		Somatic		Capture	Illumina HiSeq	Phase_I	54123438	B2RMT7	Silent	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	T	1.487	-0.555615	0.03967	.	.	ENSG00000184083	ENST00000328235	T	0.32753	1.44	4.89	3.72	0.42706	.	0.503857	0.20488	N	0.091343	T	0.21227	0.0511	.	.	.	0.80722	D	1	B	0.32160	0.358	B	0.33620	0.167	T	0.04537	-1.0944	9	0.27785	T	0.31	-5.3281	7.4002	0.26960	0.0:0.1063:0.0:0.8937	.	859	F8W881	.	R	859	ENSP00000329896:K859R	ENSP00000329896:K859R	K	-	2	0	FAM120C	54123438	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	1.309000	0.33539	1.733000	0.51620	0.412000	0.27726	AAG		FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848	
KIAA2022	340533	hgsc.bcm.edu	37	X	73963171	73963171	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:73963171A>G	ENST00000055682.6	-	3	1832	c.1221T>C	c.(1219-1221)ccT>ccC	p.P407P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	407					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TATTTAAGGCAGGCTTTTCTC	0.438																																																	0			X											253.0	213.0	227.0					X																	73963171		2203	4300	6503	73879896	SO:0001819	synonymous_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1221T>C	X.37:g.73963171A>G		Somatic		Capture	Illumina HiSeq	Phase_I	73879896	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																				KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
FAM46D	169966	hgsc.bcm.edu	37	X	79698263	79698263	+	Silent	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:79698263C>T	ENST00000308293.5	+	3	464	c.225C>T	c.(223-225)caC>caT	p.H75H	FAM46D_ENST00000538312.1_Silent_p.H75H	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	75										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTGCAAGCCACAATGGAATCA	0.388																																																	0			X											114.0	101.0	105.0					X																	79698263		2203	4300	6503	79584919	SO:0001819	synonymous_variant	169966			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.225C>T	X.37:g.79698263C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79584919	B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	CCDS14446.1																																																																																				FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630	
BEX2	84707	hgsc.bcm.edu	37	X	102564882	102564882	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:102564882G>A	ENST00000372677.3	-	3	290	c.23C>T	c.(22-24)gCg>gTg	p.A8V	BEX2_ENST00000536889.1_Missense_Mutation_p.A40V|BEX2_ENST00000372674.1_Missense_Mutation_p.A8V	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	8					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						ATTGTTTAACGCTCGTTCCTC	0.463																																																	0			X											60.0	55.0	57.0					X																	102564882		2203	4300	6503	102451538	SO:0001583	missense	84707			BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.23C>T	X.37:g.102564882G>A	ENSP00000361762:p.Ala8Val	Somatic		Capture	Illumina HiSeq	Phase_I	102451538	B2R574|D3DXA2|F5H7H5|Q5JVV9	Missense_Mutation	SNP	ENST00000372677.3	37	CCDS14505.1	.	.	.	.	.	.	.	.	.	.	G	2.069	-0.413461	0.04799	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674;ENST00000449185	T;T;T;T	0.10960	2.92;2.9;2.92;2.82	4.19	-8.39	0.00969	.	1.658220	0.03767	N	0.259209	T	0.06690	0.0171	N	0.25485	0.75	0.09310	N	1	B;B	0.24368	0.003;0.102	B;B	0.17979	0.002;0.02	T	0.16541	-1.0399	10	0.17369	T	0.5	.	9.3608	0.38195	0.6779:0.0:0.1343:0.1878	.	8;40	Q9BXY8;F5H7H5	BEX2_HUMAN;.	V	8;40;8;8	ENSP00000361762:A8V;ENSP00000442521:A40V;ENSP00000361759:A8V;ENSP00000394915:A8V	ENSP00000361759:A8V	A	-	2	0	BEX2	102451538	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-1.344000	0.02639	-3.614000	0.00132	-0.340000	0.08031	GCG		BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621	
TMSB15B	286527	hgsc.bcm.edu	37	X	103219130	103219130	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:103219130A>G	ENST00000436583.1	+	2	1678	c.35A>G	c.(34-36)aAg>aGg	p.K12R	TMSB15B_ENST00000569577.1_Missense_Mutation_p.K12R|TMSB15B_ENST00000563257.1_Missense_Mutation_p.K12R|TMSB15B_ENST00000540220.1_Missense_Mutation_p.K12R|TMSB15B_ENST00000567181.1_Missense_Mutation_p.K12R|TMSB15B_ENST00000419165.1_Missense_Mutation_p.K12R			P0CG35	TB15B_HUMAN	thymosin beta 15B	12					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				skin(1)	1						GAAGTGGAGAAGTTTGACAGG	0.358																																																	0			X											106.0	87.0	93.0					X																	103219130		1568	3582	5150	103105786	SO:0001583	missense	286527				CCDS59172.1	Xq22.2	2009-01-12			ENSG00000158427	ENSG00000158427			28612	protein-coding gene	gene with protein product						17567946	Standard	NM_194324		Approved	MGC39900	uc010noz.3	P0CG35	OTTHUMG00000022117	ENST00000436583.1:c.35A>G	X.37:g.103219130A>G	ENSP00000455771:p.Lys12Arg	Somatic		Capture	Illumina HiSeq	Phase_I	103105786	A8K614|Q99406	Missense_Mutation	SNP	ENST00000436583.1	37	CCDS59172.1																																																																																				TMSB15B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057752.2	NM_194324	
PDZD4	57595	hgsc.bcm.edu	37	X	153070578	153070578	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chrX:153070578T>C	ENST00000164640.4	-	7	927	c.736A>G	c.(736-738)Aaa>Gaa	p.K246E	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Missense_Mutation_p.K171E|PDZD4_ENST00000544474.1_Missense_Mutation_p.K137E	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	246						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATTTCAGTTTACGAGCACGC	0.612																																																	0			X											131.0	111.0	118.0					X																	153070578		2203	4300	6503	152723772	SO:0001583	missense	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.736A>G	X.37:g.153070578T>C	ENSP00000164640:p.Lys246Glu	Somatic		Capture	Illumina HiSeq	Phase_I	152723772	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.765803	0.00651	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.04275	3.66;3.66;3.87	5.03	5.03	0.67393	.	0.357432	0.31721	N	0.007177	T	0.02571	0.0078	N	0.14661	0.345	0.33652	D	0.60855	B;B;B;B;B	0.29716	0.027;0.013;0.005;0.255;0.007	B;B;B;B;B	0.24394	0.016;0.01;0.006;0.053;0.01	T	0.22800	-1.0206	10	0.06365	T	0.9	-44.5132	9.5459	0.39279	0.0:0.0:0.1744:0.8255	.	137;252;246;171;150	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	E	246;171;150;137	ENSP00000164640:K246E;ENSP00000377355:K171E;ENSP00000442033:K137E	ENSP00000164640:K246E	K	-	1	0	PDZD4	152723772	0.997000	0.39634	0.761000	0.31378	0.011000	0.07611	4.641000	0.61375	1.667000	0.50832	0.486000	0.48141	AAA		PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512	
FAM184B	27146	hgsc.bcm.edu	37	4	17711055	17711055	+	Silent	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:17711055C>A	ENST00000265018.3	-	2	566	c.354G>T	c.(352-354)gcG>gcT	p.A118A		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	118										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						ACTCAGCCAGCGCCTCCTCCG	0.652																																																	0			4											7.0	11.0	10.0					4																	17711055		690	1583	2273	17320153	SO:0001819	synonymous_variant	27146				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.354G>T	4.37:g.17711055C>A		Somatic		Capture	Illumina HiSeq	Phase_I	17320153		Silent	SNP	ENST00000265018.3	37	CCDS47033.1																																																																																				FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
SLC34A2	10568	hgsc.bcm.edu	37	4	25671402	25671402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:25671402G>T	ENST00000382051.3	+	7	819	c.769G>T	c.(769-771)Gga>Tga	p.G257*	SLC34A2_ENST00000503434.1_Nonsense_Mutation_p.G256*|SLC34A2_ENST00000504570.1_Nonsense_Mutation_p.G256*	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	257					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTCAAGAATGGAGAAGATGC	0.493			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0			4											201.0	196.0	198.0					4																	25671402		2203	4300	6503	25280500	SO:0001587	stop_gained	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.769G>T	4.37:g.25671402G>T	ENSP00000371483:p.Gly257*	Somatic		Capture	Illumina HiSeq	Phase_I	25280500	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Nonsense_Mutation	SNP	ENST00000382051.3	37	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423040	0.83559	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	.	.	.	5.39	5.39	0.77823	.	0.048173	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.1239	19.5216	0.95187	0.0:0.0:1.0:0.0	.	.	.	.	X	256;257;256	.	ENSP00000371483:G257X	G	+	1	0	SLC34A2	25280500	1.000000	0.71417	0.962000	0.40283	0.190000	0.23558	9.491000	0.97954	2.700000	0.92200	0.561000	0.74099	GGA		SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	
PDGFRA	5156	hgsc.bcm.edu	37	4	55141120	55141120	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:55141120C>A	ENST00000257290.5	+	12	2097	c.1766C>A	c.(1765-1767)cCa>cAa	p.P589Q	FIP1L1_ENST00000507166.1_Missense_Mutation_p.P349Q	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	589					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGGGAGTTTCCAAGAGATGGA	0.453			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0			4											92.0	91.0	92.0					4																	55141120		2203	4300	6503	54835877	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1766C>A	4.37:g.55141120C>A	ENSP00000257290:p.Pro589Gln	Somatic		Capture	Illumina HiSeq	Phase_I	54835877	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594965	0.66219	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.89343	-2.5;-2.5	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.000000	0.31936	U	0.006834	D	0.93245	0.7848	M	0.81802	2.56	0.80722	D	1	D;P	0.59357	0.985;0.904	P;B	0.57152	0.814;0.227	D	0.93608	0.6936	10	0.87932	D	0	.	15.2928	0.73879	0.14:0.86:0.0:0.0	.	589;589	P16234-3;P16234	.;PGFRA_HUMAN	Q	349;589	ENSP00000423325:P349Q;ENSP00000257290:P589Q	ENSP00000423325:P349Q	P	+	2	0	FIP1L1;PDGFRA	54835877	1.000000	0.71417	0.998000	0.56505	0.284000	0.27059	4.641000	0.61375	2.861000	0.98227	0.655000	0.94253	CCA		PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
KIT	3815	hgsc.bcm.edu	37	4	55564500	55564500	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:55564500A>G	ENST00000288135.5	+	3	485	c.388A>G	c.(388-390)Aac>Gac	p.N130D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	130	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAGAAGACAACGACACGCT	0.498		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0			4											45.0	42.0	43.0					4																	55564500		2203	4300	6503	55259257	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.388A>G	4.37:g.55564500A>G	ENSP00000288135:p.Asn130Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55259257	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	2.143	-0.396442	0.04899	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.76186	-1.0;-1.0	5.59	1.67	0.24075	Immunoglobulin-like fold (1);	1.478020	0.04233	N	0.335594	T	0.57257	0.2041	N	0.22421	0.69	0.09310	N	1	B;B	0.14805	0.0;0.011	B;B	0.19946	0.001;0.027	T	0.36065	-0.9763	10	0.09338	T	0.73	.	3.4772	0.07589	0.6519:0.1411:0.0722:0.1347	.	130;130	P10721-2;P10721	.;KIT_HUMAN	D	130	ENSP00000288135:N130D;ENSP00000390987:N130D	ENSP00000288135:N130D	N	+	1	0	KIT	55259257	0.117000	0.22190	0.001000	0.08648	0.249000	0.25844	1.839000	0.39220	0.061000	0.16311	0.459000	0.35465	AAC		KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	hgsc.bcm.edu	37	4	55594177	55594177	+	Splice_Site	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:55594177C>T	ENST00000288135.5	+	13	1977	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P627L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAATTTTAGCGAGTGCCCAT	0.433		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	1	Substitution - Missense(1)	soft_tissue(1)	4											145.0	134.0	137.0					4																	55594177		2203	4300	6503	55288934	SO:0001630	splice_region_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1880-1C>T	4.37:g.55594177C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55288934	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903525	0.72754	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82711	-1.64;-1.64	6.06	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	D	0.82314	0.5010	N	0.13327	0.33	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	P;P;D	0.66084	0.818;0.898;0.941	T	0.81947	-0.0700	9	.	.	.	.	15.2169	0.73274	0.0:0.933:0.0:0.067	.	134;623;627	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	L	627;623	ENSP00000288135:P627L;ENSP00000390987:P623L	.	P	+	2	0	KIT	55288934	1.000000	0.71417	0.997000	0.53966	0.170000	0.22686	7.743000	0.85020	1.576000	0.49790	0.655000	0.94253	CCG		KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		Missense_Mutation
SEC31A	22872	hgsc.bcm.edu	37	4	83778206	83778206	+	Missense_Mutation	SNP	G	G	A	rs140582072		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:83778206G>A	ENST00000395310.2	-	16	1962	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	SEC31A_ENST00000508502.1_Missense_Mutation_p.R594C|SEC31A_ENST00000505984.1_Missense_Mutation_p.R555C|SEC31A_ENST00000508479.1_Missense_Mutation_p.R594C|SEC31A_ENST00000509142.1_Missense_Mutation_p.R594C|SEC31A_ENST00000355196.2_Missense_Mutation_p.R594C|SEC31A_ENST00000311785.7_Missense_Mutation_p.R594C|SEC31A_ENST00000348405.4_Missense_Mutation_p.R555C|SEC31A_ENST00000505472.1_Missense_Mutation_p.R594C|SEC31A_ENST00000500777.2_Missense_Mutation_p.R555C|SEC31A_ENST00000513858.1_Missense_Mutation_p.R555C|SEC31A_ENST00000443462.2_Missense_Mutation_p.R589C|SEC31A_ENST00000432794.1_Missense_Mutation_p.R594C|SEC31A_ENST00000448323.1_Missense_Mutation_p.R594C|SEC31A_ENST00000264405.5_Missense_Mutation_p.R327C|SEC31A_ENST00000326950.5_Missense_Mutation_p.R555C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	594					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.R555C(1)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCGGCCATGCGGTTATCATGT	0.413																																																	1	Substitution - Missense(1)	breast(1)	4											83.0	78.0	80.0					4																	83778206		2203	4300	6503	83997230	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1780C>T	4.37:g.83778206G>A	ENSP00000378721:p.Arg594Cys	Somatic		Capture	Illumina HiSeq	Phase_I	83997230	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.299224|5.299224	0.95574|0.95574	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000507828;ENST00000512664|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.54279	.|0.62;0.58;1.83;1.8;0.77;1.71;1.83;0.62;0.77;0.58;0.58;1.83;1.83;2.6;1.63;1.83;1.83	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80681|0.80681	0.4669|0.4669	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D	.|0.97110	.|0.999;0.999;1.0;1.0;0.989;1.0;0.999;0.998;0.999	D|D	0.84659|0.84659	0.0705|0.0705	5|10	.|0.87932	.|D	.|0	-10.908|-10.908	19.949|19.949	0.97192|0.97192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|589;555;594;555;555;594;594;594;327	.|B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.|.;.;.;.;.;.;.;SC31A_HUMAN;.	L|C	210;108|555;555;594;589;594;594;594;555;594;594;555;594;594;327;555;594;182	.|ENSP00000337602:R555C;ENSP00000426886:R555C;ENSP00000378721:R594C;ENSP00000408027:R589C;ENSP00000426569:R594C;ENSP00000407944:R594C;ENSP00000400926:R594C;ENSP00000325087:R555C;ENSP00000309070:R594C;ENSP00000421633:R594C;ENSP00000421464:R555C;ENSP00000424635:R594C;ENSP00000347329:R594C;ENSP00000264405:R327C;ENSP00000424451:R555C;ENSP00000425999:R594C;ENSP00000422267:R182C	.|ENSP00000264405:R327C	P|R	-|-	2|1	0|0	SEC31A|SEC31A	83997230|83997230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CCG|CGC		SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
DSPP	1834	hgsc.bcm.edu	37	4	88535012	88535012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:88535012G>T	ENST00000282478.7	+	4	1231	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Nonsense_Mutation_p.E400*			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	400					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CGAAGGTAAAGAGGATAAAGG	0.443																																																	0			4											129.0	120.0	123.0					4																	88535012		1941	4139	6080	88754036	SO:0001587	stop_gained	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1198G>T	4.37:g.88535012G>T	ENSP00000282478:p.Glu400*	Somatic		Capture	Illumina HiSeq	Phase_I	88754036	A8MUI0|O95815	Nonsense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783870	0.70222	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	.	.	.	4.2	-0.0492	0.13836	.	0.811716	0.10029	N	0.725009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-3.9603	3.3817	0.07257	0.3719:0.2042:0.4239:0.0	.	.	.	.	X	400	.	ENSP00000282478:E400X	E	+	1	0	DSPP	88754036	0.000000	0.05858	0.004000	0.12327	0.023000	0.10783	0.494000	0.22467	0.059000	0.16252	0.446000	0.29264	GAG		DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
HERC5	51191	hgsc.bcm.edu	37	4	89425454	89425454	+	Missense_Mutation	SNP	G	G	T	rs375430185		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:89425454G>T	ENST00000264350.3	+	21	2807	c.2654G>T	c.(2653-2655)cGg>cTg	p.R885L	HERC5_ENST00000508159.1_Missense_Mutation_p.R523L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	885	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAGAATTTCGGAGAGGATTT	0.323																																					Esophageal Squamous(39;887 1012 34045 50514)												0			4											78.0	82.0	81.0					4																	89425454		2203	4299	6502	89644477	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2654G>T	4.37:g.89425454G>T	ENSP00000264350:p.Arg885Leu	Somatic		Capture	Illumina HiSeq	Phase_I	89644477	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459796	0.43736	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.45276	0.9;0.9	4.62	3.45	0.39498	HECT (4);	0.316302	0.21246	N	0.077721	T	0.27559	0.0677	N	0.16066	0.365	0.24863	N	0.99234	B	0.22746	0.074	B	0.34038	0.174	T	0.23868	-1.0176	10	0.36615	T	0.2	.	7.6934	0.28581	0.896:0.0:0.104:0.0	.	885	Q9UII4	HERC5_HUMAN	L	885;523	ENSP00000264350:R885L;ENSP00000424129:R523L	ENSP00000264350:R885L	R	+	2	0	HERC5	89644477	0.988000	0.35896	1.000000	0.80357	0.745000	0.42441	4.021000	0.57196	0.819000	0.34492	-0.302000	0.09304	CGG		HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
GRID2	2895	hgsc.bcm.edu	37	4	94006419	94006419	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:94006419A>G	ENST00000282020.4	+	3	776	c.518A>G	c.(517-519)gAt>gGt	p.D173G	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	173					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATATTCTATGATAGTGAATAC	0.358																																																	0			4											88.0	92.0	91.0					4																	94006419		2203	4300	6503	94225442	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.518A>G	4.37:g.94006419A>G	ENSP00000282020:p.Asp173Gly	Somatic		Capture	Illumina HiSeq	Phase_I	94225442	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187776	0.78789	.	.	ENSG00000152208	ENST00000282020	D	0.89681	-2.55	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92348	0.7572	L	0.46157	1.445	0.80722	D	1	D;D	0.69078	0.997;0.972	D;P	0.83275	0.996;0.86	D	0.93246	0.6630	10	0.87932	D	0	.	15.4223	0.75022	1.0:0.0:0.0:0.0	.	173;114	O43424;B4DYB9	GRID2_HUMAN;.	G	173	ENSP00000282020:D173G	ENSP00000282020:D173G	D	+	2	0	GRID2	94225442	1.000000	0.71417	0.886000	0.34754	0.861000	0.49209	9.279000	0.95777	2.112000	0.64535	0.533000	0.62120	GAT		GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
TACR3	6870	hgsc.bcm.edu	37	4	104511134	104511134	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:104511134T>C	ENST00000304883.2	-	5	1243	c.1103A>G	c.(1102-1104)aAg>aGg	p.K368R	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	368					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAATGCTCTCTTGAAGCCAGC	0.428																																																	0			4											66.0	66.0	66.0					4																	104511134		2203	4300	6503	104730583	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1103A>G	4.37:g.104511134T>C	ENSP00000303325:p.Lys368Arg	Somatic		Capture	Illumina HiSeq	Phase_I	104730583	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029177	0.54790	.	.	ENSG00000169836	ENST00000304883	T	0.38077	1.16	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.50847	1.595	0.58432	D	0.999995	B	0.31040	0.305	B	0.27796	0.083	T	0.07790	-1.0754	10	0.23891	T	0.37	.	15.3584	0.74448	0.0:0.0:0.0:1.0	.	368	P29371	NK3R_HUMAN	R	368	ENSP00000303325:K368R	ENSP00000303325:K368R	K	-	2	0	TACR3	104730583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.565000	0.82337	2.217000	0.71921	0.482000	0.46254	AAG		TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
DKK2	27123	hgsc.bcm.edu	37	4	107846994	107846994	+	Missense_Mutation	SNP	C	C	T	rs370095806		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:107846994C>T	ENST00000285311.3	-	2	1040	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	DKK2_ENST00000513208.1_Missense_Mutation_p.R12Q|DKK2_ENST00000510463.1_Missense_Mutation_p.R66Q	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATGCCATCTCGGTGGCAGCG	0.498																																																	0			4						C	GLN/ARG	0,4406		0,0,2203	173.0	159.0	164.0		335	5.4	0.9	4		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	DKK2	NM_014421.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	112/260	107846994	1,13005	2203	4300	6503	108066443	SO:0001583	missense	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.335G>A	4.37:g.107846994C>T	ENSP00000285311:p.Arg112Gln	Somatic		Capture	Illumina HiSeq	Phase_I	108066443	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743262	0.96873	0.0	1.16E-4	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.60424	0.19;0.44;0.34	5.42	5.42	0.78866	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.79011	2.435	0.58432	D	0.999996	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.988	T	0.79992	-0.1569	10	0.72032	D	0.01	-15.7364	19.5778	0.95452	0.0:1.0:0.0:0.0	.	112;112	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	Q	112;12;66	ENSP00000285311:R112Q;ENSP00000421255:R12Q;ENSP00000423797:R66Q	ENSP00000285311:R112Q	R	-	2	0	DKK2	108066443	1.000000	0.71417	0.917000	0.36280	0.983000	0.72400	7.410000	0.80065	2.704000	0.92352	0.467000	0.42956	CGA		DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
FBXW7	55294	hgsc.bcm.edu	37	4	153247183	153247183	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:153247183T>C	ENST00000281708.4	-	10	2848	c.1619A>G	c.(1618-1620)cAt>cGt	p.H540R	FBXW7_ENST00000603841.1_Missense_Mutation_p.H540R|FBXW7_ENST00000603548.1_Missense_Mutation_p.H540R|FBXW7_ENST00000393956.3_Missense_Mutation_p.H364R|FBXW7_ENST00000296555.5_Missense_Mutation_p.H422R|FBXW7_ENST00000263981.5_Missense_Mutation_p.H460R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	540					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTATTAGTATGCCCCTGCAA	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											170.0	166.0	167.0					4																	153247183		2203	4300	6503	153466633	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1619A>G	4.37:g.153247183T>C	ENSP00000281708:p.His540Arg	Somatic		Capture	Illumina HiSeq	Phase_I	153466633	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328066	0.81690	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93022	0.7779	H	0.96518	3.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94748	0.7925	10	0.59425	D	0.04	-19.0933	16.2962	0.82776	0.0:0.0:0.0:1.0	.	364;540;422;460	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	540;422;460;364	ENSP00000281708:H540R;ENSP00000296555:H422R;ENSP00000263981:H460R;ENSP00000377528:H364R	ENSP00000263981:H460R	H	-	2	0	FBXW7	153466633	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.304000	0.77564	0.528000	0.53228	CAT		FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153253824	153253824	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:153253824T>C	ENST00000281708.4	-	6	2138	c.909A>G	c.(907-909)caA>caG	p.Q303Q	FBXW7_ENST00000603841.1_Silent_p.Q303Q|FBXW7_ENST00000603548.1_Silent_p.Q303Q|FBXW7_ENST00000393956.3_Silent_p.Q127Q|FBXW7_ENST00000296555.5_Silent_p.Q185Q|FBXW7_ENST00000263981.5_Silent_p.Q223Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	303	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGAGCTGCTTGTAGCAGGT	0.368			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											68.0	69.0	68.0					4																	153253824		2203	4300	6503	153473274	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.909A>G	4.37:g.153253824T>C		Somatic		Capture	Illumina HiSeq	Phase_I	153473274	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153332919	153332919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:153332919G>A	ENST00000281708.4	-	2	1266	c.37C>T	c.(37-39)Cga>Tga	p.R13*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R13*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R13*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.R13*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	13					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R13*(3)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCAGTTCGTCGTCTTTTGCTG	0.483			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	3	Substitution - Nonsense(3)	large_intestine(2)|kidney(1)	4											75.0	66.0	69.0					4																	153332919		2203	4300	6503	153552369	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.37C>T	4.37:g.153332919G>A	ENSP00000281708:p.Arg13*	Somatic		Capture	Illumina HiSeq	Phase_I	153552369	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875991	0.91664	.	.	ENSG00000109670	ENST00000281708	.	.	.	5.67	4.75	0.60458	.	0.098967	0.39475	N	0.001355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8831	17.3378	0.87287	0.0:0.0:0.8664:0.1336	.	.	.	.	X	13	.	ENSP00000281708:R13X	R	-	1	2	FBXW7	153552369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.689000	0.68234	2.668000	0.90789	0.650000	0.86243	CGA		FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FGA	2243	hgsc.bcm.edu	37	4	155506888	155506888	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:155506888G>A	ENST00000302053.3	-	5	1771	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	FGA_ENST00000403106.3_Missense_Mutation_p.P565S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	565					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCTATCCCAGGGTGATGAGAA	0.428																																					NSCLC(143;340 1922 20892 22370 48145)												0			4											94.0	90.0	92.0					4																	155506888		2203	4300	6503	155726338	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1693C>T	4.37:g.155506888G>A	ENSP00000306361:p.Pro565Ser	Somatic		Capture	Illumina HiSeq	Phase_I	155726338	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	2.661	-0.279853	0.05642	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.54675	0.56;3.02	4.46	-8.91	0.00778	.	20.600900	0.00166	N	0.000000	T	0.22589	0.0545	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36866	-0.9730	10	0.05525	T	0.97	.	0.964	0.01401	0.2304:0.1814:0.3265:0.2617	.	565;565	P02671-2;P02671	.;FIBA_HUMAN	S	565	ENSP00000306361:P565S;ENSP00000385981:P565S	ENSP00000306361:P565S	P	-	1	0	FGA	155726338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.166000	0.09954	-1.538000	0.01734	-1.052000	0.02337	CCT		FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
WWC2	80014	hgsc.bcm.edu	37	4	184190299	184190299	+	Silent	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:184190299C>A	ENST00000403733.3	+	15	2582	c.2383C>A	c.(2383-2385)Cga>Aga	p.R795R	WWC2_ENST00000506225.1_3'UTR|WWC2_ENST00000448232.2_Silent_p.R795R|WWC2_ENST00000378925.3_Intron|WWC2_ENST00000504005.1_Silent_p.R477R|WWC2_ENST00000513834.1_Silent_p.R746R	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	795	C2.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.R795*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGTAAACACCGAAGGGAAGA	0.413																																																	1	Substitution - Nonsense(1)	ovary(1)	4											78.0	76.0	76.0					4																	184190299		2203	4300	6503	184427293	SO:0001819	synonymous_variant	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2383C>A	4.37:g.184190299C>A		Somatic		Capture	Illumina HiSeq	Phase_I	184427293	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	SNP	ENST00000403733.3	37	CCDS34109.2																																																																																				WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
TRAPPC12	51112	hgsc.bcm.edu	37	2	3483174	3483174	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:3483174A>G	ENST00000324266.5	+	12	2345	c.2150A>G	c.(2149-2151)gAg>gGg	p.E717G	TRAPPC12-AS1_ENST00000453806.1_RNA|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.E717G	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	717			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		vesicle-mediated transport (GO:0016192)												GCCCTGCTGGAGGCTGTCGCC	0.597																																																	0			2											76.0	78.0	77.0					2																	3483174		2203	4300	6503	3462181	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.2150A>G	2.37:g.3483174A>G	ENSP00000324318:p.Glu717Gly	Somatic		Capture	Illumina HiSeq	Phase_I	3462181	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584766	0.46110	.	.	ENSG00000171853	ENST00000382110;ENST00000324266;ENST00000415624	T;T	0.50548	0.74;0.74	4.91	3.64	0.41730	.	0.249014	0.46758	N	0.000270	T	0.50650	0.1628	L	0.56340	1.77	0.58432	D	0.999997	D	0.56287	0.975	P	0.52424	0.698	T	0.49579	-0.8925	10	0.54805	T	0.06	.	8.3757	0.32442	0.8836:0.0:0.1164:0.0	.	717	Q8WVT3	TPC12_HUMAN	G	717;717;216	ENSP00000371544:E717G;ENSP00000324318:E717G	ENSP00000324318:E717G	E	+	2	0	TTC15	3462181	1.000000	0.71417	0.993000	0.49108	0.816000	0.46133	5.449000	0.66619	0.866000	0.35629	0.533000	0.62120	GAG		TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
DDX1	1653	hgsc.bcm.edu	37	2	15742718	15742718	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:15742718A>G	ENST00000381341.2	+	8	743	c.354A>G	c.(352-354)gaA>gaG	p.E118E	DDX1_ENST00000233084.3_Silent_p.E118E			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	118	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AAGTAAAGGAATGGCATGGGT	0.373																																																	0			2											154.0	145.0	148.0					2																	15742718		2203	4300	6503	15660169	SO:0001819	synonymous_variant	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.354A>G	2.37:g.15742718A>G		Somatic		Capture	Illumina HiSeq	Phase_I	15660169	B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	CCDS1686.1																																																																																				DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	
HADHA	3030	hgsc.bcm.edu	37	2	26424110	26424110	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:26424110C>T	ENST00000380649.3	-	13	1429	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	434					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.D434H(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGGTAATCAAGCTGCCCA	0.408																																																	1	Substitution - Missense(1)	ovary(1)	2											99.0	91.0	94.0					2																	26424110		2203	4300	6503	26277614	SO:0001583	missense	3030			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1300G>A	2.37:g.26424110C>T	ENSP00000370023:p.Asp434Asn	Somatic		Capture	Illumina HiSeq	Phase_I	26277614	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377952	0.61735	.	.	ENSG00000084754	ENST00000380649	T	0.78003	-1.14	5.43	4.56	0.56223	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.042848	0.85682	N	0.000000	T	0.73621	0.3610	L	0.45698	1.435	0.80722	D	1	B;B	0.26672	0.156;0.156	B;B	0.33121	0.158;0.158	T	0.71358	-0.4617	10	0.46703	T	0.11	.	12.9488	0.58388	0.0:0.9214:0.0:0.0786	.	434;434	E9KL44;P40939	.;ECHA_HUMAN	N	434	ENSP00000370023:D434N	ENSP00000370023:D434N	D	-	1	0	HADHA	26277614	1.000000	0.71417	0.847000	0.33407	0.963000	0.63663	6.031000	0.70911	1.305000	0.44909	-0.140000	0.14226	GAT		HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	
BIRC6	57448	hgsc.bcm.edu	37	2	32820106	32820106	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:32820106A>G	ENST00000421745.2	+	68	13641	c.13507A>G	c.(13507-13509)Aaa>Gaa	p.K4503E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4503					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					aaCAGAAAAAAAACTGGGTGA	0.264																																					Pancreas(94;175 1509 16028 18060 45422)												0			2											24.0	26.0	25.0					2																	32820106		2195	4295	6490	32673610	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13507A>G	2.37:g.32820106A>G	ENSP00000393596:p.Lys4503Glu	Somatic		Capture	Illumina HiSeq	Phase_I	32673610	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230424	0.39399	.	.	ENSG00000115760	ENST00000421745	T	0.73789	-0.78	5.3	5.3	0.74995	.	0.048129	0.85682	D	0.000000	T	0.65821	0.2728	L	0.44542	1.39	0.58432	D	0.999995	B	0.20261	0.043	B	0.22601	0.04	T	0.60949	-0.7161	10	0.09338	T	0.73	.	15.2508	0.73545	1.0:0.0:0.0:0.0	.	4503	Q9NR09	BIRC6_HUMAN	E	4503	ENSP00000393596:K4503E	ENSP00000393596:K4503E	K	+	1	0	BIRC6	32673610	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.200000	0.77838	2.001000	0.58596	0.528000	0.53228	AAA		BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
FBXO41	150726	hgsc.bcm.edu	37	2	73490914	73490914	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:73490914C>T	ENST00000521871.1	-	8	2382	c.1967G>A	c.(1966-1968)gGg>gAg	p.G656E	FBXO41_ENST00000295133.5_Missense_Mutation_p.G717E|FBXO41_ENST00000520530.2_Missense_Mutation_p.G656E			Q8TF61	FBX41_HUMAN	F-box protein 41	656										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CAGGTTCCCCCCAGCTGCCTT	0.627																																																	0			2											69.0	84.0	79.0					2																	73490914		2077	4220	6297	73344422	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1967G>A	2.37:g.73490914C>T	ENSP00000428646:p.Gly656Glu	Somatic		Capture	Illumina HiSeq	Phase_I	73344422	G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861916	0.71949	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.52754	0.65;0.65	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41556	-0.9502	10	0.02654	T	1	-25.1158	17.897	0.88891	0.0:1.0:0.0:0.0	.	656	Q8TF61	FBX41_HUMAN	E	717;656	ENSP00000295133:G717E;ENSP00000428646:G656E	ENSP00000295133:G717E	G	-	2	0	FBXO41	73344422	1.000000	0.71417	0.946000	0.38457	0.994000	0.84299	5.684000	0.68197	2.813000	0.96785	0.561000	0.74099	GGG		FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1		
ADRA2B	151	hgsc.bcm.edu	37	2	96781429	96781429	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:96781429G>A	ENST00000409345.3	-	1	555	c.460C>T	c.(460-462)Cag>Tag	p.Q154*		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	154					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGGGGCCCTGGTCGCCCTTG	0.647																																																	0			2											25.0	32.0	30.0					2																	96781429		2136	4247	6383	96145156	SO:0001587	stop_gained	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.460C>T	2.37:g.96781429G>A	ENSP00000387281:p.Gln154*	Somatic		Capture	Illumina HiSeq	Phase_I	96145156	Q4TUH9|Q53RF2|Q9BZK0	Nonsense_Mutation	SNP	ENST00000409345.3	37	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201939	0.79127	.	.	ENSG00000222040	ENST00000409345	.	.	.	4.65	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	11.7755	0.51983	0.0:0.0:0.8135:0.1865	.	.	.	.	X	154	.	ENSP00000387281:Q154X	Q	-	1	0	ADRA2B	96145156	0.983000	0.35010	1.000000	0.80357	0.921000	0.55340	1.757000	0.38400	2.420000	0.82092	0.456000	0.33151	CAG		ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1		
CLASP1	23332	hgsc.bcm.edu	37	2	122216511	122216511	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:122216511C>T	ENST00000263710.4	-	13	1608	c.1219G>A	c.(1219-1221)Gct>Act	p.A407T	CLASP1_ENST00000545861.1_Missense_Mutation_p.A175T|CLASP1_ENST00000541377.1_Missense_Mutation_p.A407T|CLASP1_ENST00000541859.1_Missense_Mutation_p.A176T|CLASP1_ENST00000455322.2_Missense_Mutation_p.A407T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A407T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A407T|CLASP1_ENST00000430234.1_5'UTR	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	407					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ATGGCTTCAGCTCCATGGTCA	0.368																																																	0			2											142.0	139.0	140.0					2																	122216511		1849	4096	5945	121932981	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1219G>A	2.37:g.122216511C>T	ENSP00000263710:p.Ala407Thr	Somatic		Capture	Illumina HiSeq	Phase_I	121932981	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.374930	0.82573	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66638	-0.22;0.81;0.81;0.81;-0.2;0.81;-0.2	5.45	5.45	0.79879	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.046545	0.85682	N	0.000000	T	0.65565	0.2703	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.13145	0.006;0.005;0.007;0.002	B;B;B;B	0.18561	0.01;0.006;0.014;0.022	T	0.62609	-0.6818	10	0.72032	D	0.01	-10.7122	19.6233	0.95669	0.0:1.0:0.0:0.0	.	407;407;407;407	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	T	407;407;407;407;176;407;175	ENSP00000263710:A407T;ENSP00000389372:A407T;ENSP00000380717:A407T;ENSP00000441625:A407T;ENSP00000441770:A176T;ENSP00000386442:A407T;ENSP00000438620:A175T	ENSP00000263710:A407T	A	-	1	0	CLASP1	121932981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.782000	0.85680	2.714000	0.92807	0.655000	0.94253	GCT		CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
BAZ2B	29994	hgsc.bcm.edu	37	2	160289481	160289481	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:160289481C>A	ENST00000392783.2	-	9	2182	c.1687G>T	c.(1687-1689)Ggg>Tgg	p.G563W	BAZ2B_ENST00000392782.1_Missense_Mutation_p.G561W|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G561W|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G563W	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G563R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTTCCTTCCCTTGACTATGC	0.448																																																	1	Substitution - Missense(1)	ovary(1)	2											196.0	182.0	187.0					2																	160289481		1909	4126	6035	159997727	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1687G>T	2.37:g.160289481C>A	ENSP00000376534:p.Gly563Trp	Somatic		Capture	Illumina HiSeq	Phase_I	159997727	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196863	0.38806	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.92	5.92	0.95590	.	0.000000	0.37669	U	0.001981	T	0.71247	0.3317	L	0.51422	1.61	0.45390	D	0.998376	D;D;D;D;D	0.89917	1.0;0.997;0.993;0.993;0.988	D;D;P;P;P	0.87578	0.998;0.924;0.724;0.852;0.715	T	0.72265	-0.4344	10	0.87932	D	0	-8.9802	15.0866	0.72158	0.1417:0.8583:0.0:0.0	.	563;367;561;561;563	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	W	561;563;563;561;500	ENSP00000376533:G561W;ENSP00000376534:G563W;ENSP00000348087:G563W;ENSP00000339670:G561W	ENSP00000339670:G561W	G	-	1	0	BAZ2B	159997727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.112000	0.50368	2.818000	0.97014	0.655000	0.94253	GGG		BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
LRP2	4036	hgsc.bcm.edu	37	2	170137024	170137024	+	Missense_Mutation	SNP	C	C	T	rs548624353		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:170137024C>T	ENST00000263816.3	-	11	1462	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	LRP2_ENST00000443831.1_Missense_Mutation_p.E393K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	393					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)"""	ATGGAGGCCTCGCCAACTAAA	0.453																																																	0			2											43.0	42.0	43.0					2																	170137024		2203	4300	6503	169845270	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.1177G>A	2.37:g.170137024C>T	ENSP00000263816:p.Glu393Lys	Somatic		Capture	Illumina HiSeq	Phase_I	169845270	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.767037	0.00645	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94723	-2.55;-3.5	5.54	0.163	0.14986	.	0.642841	0.15574	N	0.255295	D	0.85873	0.5798	L	0.31371	0.925	0.09310	N	1	P;P	0.40794	0.729;0.552	B;B	0.27796	0.083;0.06	T	0.75303	-0.3365	9	.	.	.	.	9.3925	0.38381	0.0:0.462:0.4093:0.1287	.	393;393	E9PC35;P98164	.;LRP2_HUMAN	K	393	ENSP00000263816:E393K;ENSP00000409813:E393K	.	E	-	1	0	LRP2	169845270	0.004000	0.15560	0.000000	0.03702	0.039000	0.13416	0.882000	0.28186	-0.282000	0.09128	-0.176000	0.13171	GAG		LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	hgsc.bcm.edu	37	2	179452773	179452773	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:179452773C>T	ENST00000591111.1	-	255	58662	c.58438G>A	c.(58438-58440)Gct>Act	p.A19480T	TTN_ENST00000589042.1_Missense_Mutation_p.A21121T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18553T|TTN_ENST00000359218.5_Missense_Mutation_p.A12181T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A12056T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12248T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19480	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> S (in a gastric 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)	p.A12056S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGCTGCAGCATTACACCGT	0.463																																																	1	Substitution - Missense(1)	stomach(1)	2											99.0	95.0	96.0					2																	179452773		1974	4168	6142	179161019	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.58438G>A	2.37:g.179452773C>T	ENSP00000465570:p.Ala19480Thr	Somatic		Capture	Illumina HiSeq	Phase_I	179161019	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		.	.	.	.	.	.	.	.	.	.	C	11.49	1.655221	0.29425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.78	5.78	0.91487	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27278	0.0669	N	0.00473	-1.45	0.37235	D	0.905862	B;B;B;B	0.17465	0.022;0.022;0.022;0.022	B;B;B;B	0.16289	0.008;0.008;0.008;0.015	T	0.40308	-0.9570	9	0.87932	D	0	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	12056;12181;12248;19480	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18553;12056;12248;12181;12054	ENSP00000343764:A18553T;ENSP00000434586:A12056T;ENSP00000340554:A12248T;ENSP00000352154:A12181T	ENSP00000340554:A12248T	A	-	1	0	TTN	179161019	1.000000	0.71417	0.994000	0.49952	0.534000	0.34807	5.893000	0.69798	2.729000	0.93468	0.650000	0.86243	GCT		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179476518	179476518	+	Missense_Mutation	SNP	G	G	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:179476518G>C	ENST00000591111.1	-	218	45819	c.45595C>G	c.(45595-45597)Ccc>Gcc	p.P15199A	TTN_ENST00000589042.1_Missense_Mutation_p.P16840A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14272A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7900A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7775A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7967A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15199	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCTGTGGGTTCACTTGGG	0.418																																																	0			2											138.0	134.0	135.0					2																	179476518		1943	4145	6088	179184763	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.45595C>G	2.37:g.179476518G>C	ENSP00000465570:p.Pro15199Ala	Somatic		Capture	Illumina HiSeq	Phase_I	179184763	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		.	.	.	.	.	.	.	.	.	.	G	12.59	1.984911	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	6.06	5.17	0.71159	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41143	0.1146	L	0.31804	0.96	0.58432	D	0.999995	P;P;P;P	0.36144	0.539;0.539;0.539;0.539	B;B;B;B	0.31101	0.124;0.124;0.124;0.124	T	0.46871	-0.9160	9	0.87932	D	0	.	15.6525	0.77108	0.0662:0.0:0.9338:0.0	.	7775;7900;7967;15199	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	14272;7775;7967;7900;7775	ENSP00000343764:P14272A;ENSP00000434586:P7775A;ENSP00000340554:P7967A;ENSP00000352154:P7900A	ENSP00000340554:P7967A	P	-	1	0	TTN	179184763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.952000	0.87827	2.879000	0.98667	0.650000	0.86243	CCC		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179486328	179486328	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:179486328T>C	ENST00000591111.1	-	195	40524	c.40300A>G	c.(40300-40302)Aga>Gga	p.R13434G	TTN_ENST00000589042.1_Missense_Mutation_p.R15075G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12507G|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6135G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6010G|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6202G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13434	Ig-like 90.		R -> K (in a breast pleomorphic lobular carcinoma 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)			ATTTCATATCTTCCTGTTTCA	0.448																																																	0			2											143.0	138.0	139.0					2																	179486328		1966	4153	6119	179194573	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.40300A>G	2.37:g.179486328T>C	ENSP00000465570:p.Arg13434Gly	Somatic		Capture	Illumina HiSeq	Phase_I	179194573	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	12.70	2.016736	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	6.17	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86912	0.6047	M	0.76938	2.355	0.40106	D	0.976425	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.56278	0.739;0.739;0.739;0.795	D	0.89065	0.3465	9	0.87932	D	0	.	13.2634	0.60120	0.0:0.0:0.132:0.868	.	6010;6135;6202;13434	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12507;6010;6202;6135;6010	ENSP00000343764:R12507G;ENSP00000434586:R6010G;ENSP00000340554:R6202G;ENSP00000352154:R6135G	ENSP00000340554:R6202G	R	-	1	2	TTN	179194573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.449000	0.52950	2.371000	0.80710	0.533000	0.62120	AGA		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179585663	179585663	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:179585663C>T	ENST00000591111.1	-	77	22356	c.22132G>A	c.(22132-22134)Gcg>Acg	p.A7378T	TTN_ENST00000589042.1_Missense_Mutation_p.A7695T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6451T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12938	Ig-like 55.				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)			ACTGTCAACGCTGTGCTGCAG	0.433																																																	0			2											59.0	59.0	59.0					2																	179585663		2024	4202	6226	179293908	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.22132G>A	2.37:g.179585663C>T	ENSP00000465570:p.Ala7378Thr	Somatic		Capture	Illumina HiSeq	Phase_I	179293908	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		.	.	.	.	.	.	.	.	.	.	C	11.97	1.797535	0.31777	.	.	ENSG00000155657	ENST00000342992	T	0.65364	-0.15	6.02	4.18	0.49190	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38241	0.1033	N	0.03268	-0.37	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	T	0.22173	-1.0224	9	0.87932	D	0	.	9.9241	0.41481	0.2593:0.6744:0.0:0.0663	.	7378	Q8WZ42	TITIN_HUMAN	T	6451	ENSP00000343764:A6451T	ENSP00000343764:A6451T	A	-	1	0	TTN	179293908	0.002000	0.14202	0.969000	0.41365	0.953000	0.61014	0.688000	0.25422	0.829000	0.34733	0.650000	0.86243	GCG		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FAM171B	165215	hgsc.bcm.edu	37	2	187627354	187627354	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:187627354A>G	ENST00000304698.5	+	8	2488	c.2285A>G	c.(2284-2286)cAc>cGc	p.H762R		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	762						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.H762P(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTTTAAGGCACATCCTAGAT	0.498																																																	1	Substitution - Missense(1)	ovary(1)	2											75.0	77.0	77.0					2																	187627354		2203	4300	6503	187335599	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2285A>G	2.37:g.187627354A>G	ENSP00000304108:p.His762Arg	Somatic		Capture	Illumina HiSeq	Phase_I	187335599	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.915613	0.52546	.	.	ENSG00000144369	ENST00000304698	T	0.29655	1.56	6.02	4.81	0.61882	.	0.143965	0.64402	D	0.000006	T	0.34308	0.0893	L	0.36672	1.1	0.44500	D	0.99744	P;P	0.52692	0.955;0.955	P;P	0.51701	0.677;0.677	T	0.03000	-1.1084	10	0.38643	T	0.18	-18.4059	13.0247	0.58808	0.8658:0.1342:0.0:0.0	.	762;763	Q6P995;A8K122	F171B_HUMAN;.	R	762	ENSP00000304108:H762R	ENSP00000304108:H762R	H	+	2	0	FAM171B	187335599	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	4.628000	0.61282	2.299000	0.77371	0.528000	0.53228	CAC		FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
ZDBF2	57683	hgsc.bcm.edu	37	2	207175290	207175290	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:207175290C>A	ENST00000374423.3	+	5	6424	c.6038C>A	c.(6037-6039)tCt>tAt	p.S2013Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2013							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGTGTTCTTTCTTCTTTAAAT	0.348																																																	0			2											31.0	31.0	31.0					2																	207175290		1825	4078	5903	206883535	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6038C>A	2.37:g.207175290C>A	ENSP00000363545:p.Ser2013Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	206883535	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886096	0.51908	.	.	ENSG00000204186	ENST00000374423	T	0.64618	-0.11	5.46	5.46	0.80206	.	.	.	.	.	T	0.76183	0.3952	L	0.50333	1.59	0.40920	D	0.984304	D	0.89917	1.0	D	0.76575	0.988	T	0.78481	-0.2187	9	0.87932	D	0	.	19.292	0.94103	0.0:1.0:0.0:0.0	.	2013	Q9HCK1	ZDBF2_HUMAN	Y	2013	ENSP00000363545:S2013Y	ENSP00000363545:S2013Y	S	+	2	0	ZDBF2	206883535	0.835000	0.29415	0.264000	0.24511	0.061000	0.15899	1.905000	0.39878	2.559000	0.86315	0.563000	0.77884	TCT		ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
MAP2	4133	hgsc.bcm.edu	37	2	210559008	210559008	+	Missense_Mutation	SNP	C	C	T	rs146432517		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:210559008C>T	ENST00000360351.4	+	7	2620	c.2114C>T	c.(2113-2115)cCg>cTg	p.P705L	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P701L	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	705			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P705L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCAATTTGCCGATGTCTTGC	0.438																																					Pancreas(27;423 979 28787 29963)												1	Substitution - Missense(1)	large_intestine(1)	2						C	,LEU/PRO,,	0,4406		0,0,2203	241.0	231.0	234.0		,2114,,	6.1	1.0	2	dbSNP_134	234	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,98,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,,	,705/1828,,	210559008	1,13005	2203	4300	6503	210267253	SO:0001583	missense	10988				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2114C>T	2.37:g.210559008C>T	ENSP00000353508:p.Pro705Leu	Somatic		Capture	Illumina HiSeq	Phase_I	210267253	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342024	0.81911	0.0	1.16E-4	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.55832	0.1945	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.52682	-0.8543	10	0.87932	D	0	-13.3508	20.6244	0.99512	0.0:1.0:0.0:0.0	.	701;705	P11137-3;P11137	.;MAP2_HUMAN	L	705;701	ENSP00000353508:P705L;ENSP00000392164:P701L	ENSP00000353508:P705L	P	+	2	0	MAP2	210267253	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.238000	0.78173	2.879000	0.98667	0.650000	0.86243	CCG		MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
CPS1	1373	hgsc.bcm.edu	37	2	211521298	211521298	+	Missense_Mutation	SNP	C	C	T	rs149518280		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:211521298C>T	ENST00000233072.5	+	30	3804	c.3608C>T	c.(3607-3609)tCg>tTg	p.S1203L	CPS1_ENST00000430249.2_Missense_Mutation_p.S1209L|CPS1_ENST00000451903.2_Missense_Mutation_p.S752L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1203	ATP-grasp 2.		S -> L (in CPS1D). {ECO:0000269|PubMed:21120950}.|S -> P (in CPS1D). {ECO:0000269|PubMed:16737834}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGTGTCCACTCGGGAGATGCC	0.418																																																	0			2						C	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	72.0	73.0	73.0		3626,2255,3608	5.9	1.0	2	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CPS1	NM_001122633.2,NM_001122634.2,NM_001875.4	145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1209/1507,752/1050,1203/1501	211521298	1,13005	2203	4300	6503	211229543	SO:0001583	missense	1589			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3608C>T	2.37:g.211521298C>T	ENSP00000233072:p.Ser1203Leu	Somatic		Capture	Illumina HiSeq	Phase_I	211229543	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233778	0.95207	0.0	1.16E-4	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98264	-4.83;-4.83;-4.83	5.87	5.87	0.94306	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97998	1.0358	10	0.87932	D	0	-6.1836	20.206	0.98277	0.0:1.0:0.0:0.0	.	1213;1203	Q59HF8;P31327	.;CPSM_HUMAN	L	1209;1211;1203;752	ENSP00000402608:S1209L;ENSP00000233072:S1203L;ENSP00000406136:S752L	ENSP00000233072:S1203L	S	+	2	0	CPS1	211229543	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	7.340000	0.79292	2.785000	0.95823	0.655000	0.94253	TCG		CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
ABCA12	26154	hgsc.bcm.edu	37	2	215890452	215890452	+	Missense_Mutation	SNP	C	C	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:215890452C>G	ENST00000272895.7	-	11	1451	c.1232G>C	c.(1231-1233)cGc>cCc	p.R411P	AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000437897.3_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000602182.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.R93P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	411					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGAACCATTGCGAAGAAAAGA	0.318																																					Ovarian(66;664 1488 5121 34295)												0			2											81.0	85.0	84.0					2																	215890452		2203	4300	6503	215598697	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1232G>C	2.37:g.215890452C>G	ENSP00000272895:p.Arg411Pro	Somatic		Capture	Illumina HiSeq	Phase_I	215598697	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444963	0.43429	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.58797	0.31;0.31	5.96	-1.02	0.10135	.	1.014940	0.07896	N	0.971950	T	0.37293	0.0998	N	0.14661	0.345	0.80722	D	1	B;B	0.33000	0.393;0.236	B;B	0.31290	0.06;0.127	T	0.09058	-1.0692	10	0.29301	T	0.29	.	10.0453	0.42184	0.0:0.4926:0.0:0.5074	.	411;93	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	P	411;93	ENSP00000272895:R411P;ENSP00000374312:R93P	ENSP00000272895:R411P	R	-	2	0	ABCA12	215598697	0.961000	0.32948	0.996000	0.52242	0.825000	0.46686	-0.285000	0.08410	-0.056000	0.13221	0.655000	0.94253	CGC		ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
PTPRN	5798	hgsc.bcm.edu	37	2	220162096	220162096	+	Silent	SNP	C	C	T	rs560429997		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:220162096C>T	ENST00000295718.2	-	14	2187	c.1947G>A	c.(1945-1947)ccG>ccA	p.P649P	PTPRN_ENST00000423636.2_Silent_p.P559P|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Silent_p.P620P	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	649					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTGAAGGCTCCGGTGGACCCT	0.652																																																	0			2											66.0	68.0	68.0					2																	220162096		2203	4300	6503	219870340	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1947G>A	2.37:g.220162096C>T		Somatic		Capture	Illumina HiSeq	Phase_I	219870340	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1																																																																																				PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
DOCK10	55619	hgsc.bcm.edu	37	2	225695293	225695293	+	Missense_Mutation	SNP	T	T	A	rs199559649		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:225695293T>A	ENST00000258390.7	-	27	3068	c.3001A>T	c.(3001-3003)Atg>Ttg	p.M1001L	DOCK10_ENST00000409592.3_Missense_Mutation_p.M995L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1001					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGCTGTGCCATCGATTTTAGG	0.284																																																	0			2											41.0	38.0	39.0					2																	225695293		1800	4062	5862	225403537	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3001A>T	2.37:g.225695293T>A	ENSP00000258390:p.Met1001Leu	Somatic		Capture	Illumina HiSeq	Phase_I	225403537	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156282	0.57259	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.03413	3.97;3.94	5.78	4.64	0.57946	.	0.035122	0.85682	D	0.000000	T	0.08935	0.0221	M	0.87617	2.895	0.37959	D	0.932926	B;B	0.26258	0.058;0.145	B;B	0.25759	0.012;0.063	T	0.01739	-1.1284	10	0.87932	D	0	.	11.2311	0.48912	0.0:0.0711:0.0:0.9289	.	1001;995	Q96BY6;B3FL70	DOC10_HUMAN;.	L	995;1001	ENSP00000386694:M995L;ENSP00000258390:M1001L	ENSP00000258390:M1001L	M	-	1	0	DOCK10	225403537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.995000	0.57001	2.211000	0.71520	0.459000	0.35465	ATG		DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
DGKD	8527	hgsc.bcm.edu	37	2	234346055	234346055	+	Silent	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:234346055C>A	ENST00000264057.2	+	8	864	c.852C>A	c.(850-852)acC>acA	p.T284T	DGKD_ENST00000409813.3_Silent_p.T240T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	284					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)	CCTTGCTGACCAAGTGCCCAC	0.532																																																	0			2											177.0	147.0	157.0					2																	234346055		2203	4300	6503	234010794	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.852C>A	2.37:g.234346055C>A		Somatic		Capture	Illumina HiSeq	Phase_I	234010794	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	
HDLBP	3069	hgsc.bcm.edu	37	2	242179360	242179360	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr2:242179360C>T	ENST00000391975.1	-	18	2574	c.2347G>A	c.(2347-2349)Gtc>Atc	p.V783I	HDLBP_ENST00000391976.2_Missense_Mutation_p.V783I|HDLBP_ENST00000427183.2_Missense_Mutation_p.V750I|HDLBP_ENST00000310931.4_Missense_Mutation_p.V783I	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	783	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCCTCTCGGACGGCGTCCTCC	0.617																																																	0			2											95.0	92.0	93.0					2																	242179360		2203	4300	6503	241828033	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2347G>A	2.37:g.242179360C>T	ENSP00000375836:p.Val783Ile	Somatic		Capture	Illumina HiSeq	Phase_I	241828033	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.34|16.34	3.097034|3.097034	0.56075|0.56075	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.38401	.|1.14;1.14;1.14;1.14	5.38|5.38	4.5|4.5	0.54988|0.54988	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51568|0.51568	0.1682|0.1682	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.995	.|P;D	.|0.66602	.|0.895;0.945	T|T	0.51671|0.51671	-0.8676|-0.8676	5|10	.|0.51188	.|T	.|0.08	-53.9113|-53.9113	14.0666|14.0666	0.64834|0.64834	0.0:0.9274:0.0:0.0726|0.0:0.9274:0.0:0.0726	.|.	.|750;783	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	H|I	591|783;783;783;750	.|ENSP00000375836:V783I;ENSP00000375837:V783I;ENSP00000312042:V783I;ENSP00000399139:V750I	.|ENSP00000312042:V783I	R|V	-|-	2|1	0|0	HDLBP|HDLBP	241828033|241828033	1.000000|1.000000	0.71417|0.71417	0.016000|0.016000	0.15963|0.15963	0.046000|0.046000	0.14306|0.14306	6.010000|6.010000	0.70753|0.70753	1.284000|1.284000	0.44531|0.44531	0.655000|0.655000	0.94253|0.94253	CGT|GTC		HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
DMRT3	58524	hgsc.bcm.edu	37	9	990868	990868	+	Missense_Mutation	SNP	C	C	A	rs141821476	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:990868C>A	ENST00000190165.2	+	2	1320	c.1282C>A	c.(1282-1284)Cgc>Agc	p.R428S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R428C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTTCCTGCCCGCGCCACGGA	0.552																																																	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	9											85.0	72.0	76.0					9																	990868		2203	4300	6503	980868	SO:0001583	missense	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1282C>A	9.37:g.990868C>A	ENSP00000190165:p.Arg428Ser	Somatic		Capture	Illumina HiSeq	Phase_I	980868	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581684	0.46006	.	.	ENSG00000064218	ENST00000190165	T	0.38887	1.11	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.32530	0.975	0.54753	D	0.999987	D	0.89917	1.0	D	0.81914	0.995	T	0.54774	-0.8243	10	0.66056	D	0.02	-34.3542	13.7296	0.62779	0.1538:0.8462:0.0:0.0	.	428	Q9NQL9	DMRT3_HUMAN	S	428	ENSP00000190165:R428S	ENSP00000190165:R428S	R	+	1	0	DMRT3	980868	0.998000	0.40836	0.096000	0.21009	0.357000	0.29423	4.120000	0.57897	2.424000	0.82194	0.655000	0.94253	CGC		DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
IFNA4	3441	hgsc.bcm.edu	37	9	21187176	21187176	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:21187176G>T	ENST00000421715.1	-	1	422	c.355C>A	c.(355-357)Ctg>Atg	p.L119M		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	119					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L119L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CATGCTTCCAGGTCATTCAGT	0.478																																					NSCLC(154;890 1986 23660 27800 51138)												1	Substitution - coding silent(1)	ovary(1)	9											27.0	29.0	29.0					9																	21187176		2163	4261	6424	21177176	SO:0001583	missense	3441				CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.355C>A	9.37:g.21187176G>T	ENSP00000412897:p.Leu119Met	Somatic		Capture	Illumina HiSeq	Phase_I	21177176	P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	N	11.65	1.703278	0.30232	.	.	ENSG00000236637	ENST00000421715	T	0.13657	2.57	2.96	2.05	0.26809	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.177446	0.37219	N	0.002186	T	0.44435	0.1293	H	0.96489	3.83	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.37619	-0.9698	10	0.87932	D	0	.	7.6581	0.28388	0.1299:0.0:0.8701:0.0	.	119	P05014	IFNA4_HUMAN	M	119	ENSP00000412897:L119M	ENSP00000412897:L119M	L	-	1	2	IFNA4	21177176	0.002000	0.14202	0.013000	0.15412	0.036000	0.12997	0.281000	0.18810	0.571000	0.29365	-0.443000	0.05667	CTG		IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068	
TOPORS	10210	hgsc.bcm.edu	37	9	32543970	32543970	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:32543970T>C	ENST00000360538.2	-	3	669	c.553A>G	c.(553-555)Aca>Gca	p.T185A	TOPORS_ENST00000379858.1_Missense_Mutation_p.T120A	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	185	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGTTCCCTTGTCAGAGTTGTA	0.463																																																	0			9											135.0	116.0	122.0					9																	32543970		2203	4300	6503	32533970	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.553A>G	9.37:g.32543970T>C	ENSP00000353735:p.Thr185Ala	Somatic		Capture	Illumina HiSeq	Phase_I	32533970	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316678	0.40996	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18657	2.2;2.21	5.21	5.21	0.72293	.	0.000000	0.47455	D	0.000234	T	0.31638	0.0803	L	0.55481	1.735	0.39957	D	0.974616	D	0.58620	0.983	P	0.51016	0.656	T	0.11084	-1.0602	10	0.62326	D	0.03	-15.1247	14.3756	0.66874	0.0:0.0:0.0:1.0	.	185	Q9NS56	TOPRS_HUMAN	A	185;120	ENSP00000353735:T185A;ENSP00000369187:T120A	ENSP00000353735:T185A	T	-	1	0	TOPORS	32533970	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	7.610000	0.82949	2.092000	0.63282	0.460000	0.39030	ACA		TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TMEM2	23670	hgsc.bcm.edu	37	9	74305087	74305087	+	Missense_Mutation	SNP	G	G	A	rs374049571		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:74305087G>A	ENST00000377044.4	-	22	4311	c.3772C>T	c.(3772-3774)Cgc>Tgc	p.R1258C	TMEM2_ENST00000377066.5_Missense_Mutation_p.R1195C|TMEM2_ENST00000396272.3_Missense_Mutation_p.R251C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1258					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCCGTCAAGCGGAATGGAACG	0.478																																																	0			9						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	139.0	118.0	125.0		3583,3772	6.0	1.0	9		125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1195/1321,1258/1384	74305087	1,13005	2203	4300	6503	73494907	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3772C>T	9.37:g.74305087G>A	ENSP00000366243:p.Arg1258Cys	Somatic		Capture	Illumina HiSeq	Phase_I	73494907	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473965	0.63737	0.0	1.16E-4	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.74002	-0.8;-0.74;2.43	5.98	5.98	0.97165	.	0.164580	0.53938	D	0.000048	T	0.67353	0.2884	L	0.44542	1.39	0.52501	D	0.99995	B;B	0.26002	0.086;0.139	B;B	0.20184	0.012;0.028	T	0.66081	-0.6012	10	0.87932	D	0	.	13.1544	0.59509	0.0:0.0:0.8014:0.1986	.	1258;1195	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	C	1258;1195;251	ENSP00000366243:R1258C;ENSP00000366266:R1195C;ENSP00000379569:R251C	ENSP00000366243:R1258C	R	-	1	0	TMEM2	73494907	0.995000	0.38212	1.000000	0.80357	0.440000	0.31957	2.314000	0.43743	2.835000	0.97688	0.650000	0.86243	CGC		TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
TRPM6	140803	hgsc.bcm.edu	37	9	77457189	77457189	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:77457189C>A	ENST00000360774.1	-	4	460	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C	TRPM6_ENST00000449912.2_Missense_Mutation_p.G70C|TRPM6_ENST00000451710.3_Missense_Mutation_p.G75C|TRPM6_ENST00000376871.3_Missense_Mutation_p.G75C|TRPM6_ENST00000376864.4_Missense_Mutation_p.G75C|TRPM6_ENST00000359047.2_Missense_Mutation_p.G75C|TRPM6_ENST00000376872.3_Missense_Mutation_p.G75C|TRPM6_ENST00000361255.3_Missense_Mutation_p.G70C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	75			G -> V (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTCTTTACCCTTGGCAGCT	0.428																																																	0			9											195.0	184.0	188.0					9																	77457189		2203	4300	6503	76647009	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.223G>T	9.37:g.77457189C>A	ENSP00000354006:p.Gly75Cys	Somatic		Capture	Illumina HiSeq	Phase_I	76647009	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429196	0.43122	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	5.44	1.19	0.21007	.	1.205580	0.05608	N	0.577620	T	0.65533	0.2700	M	0.64404	1.975	0.09310	N	1	P;P;P;P;D;P	0.55172	0.82;0.82;0.82;0.939;0.97;0.518	B;B;B;P;P;P	0.54460	0.416;0.298;0.416;0.753;0.447;0.649	T	0.49476	-0.8936	10	0.59425	D	0.04	.	6.4974	0.22150	0.0:0.5603:0.127:0.3127	.	75;75;75;75;75;70	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	C	75;75;75;75;70;70;74;75;75	ENSP00000354006:G75C;ENSP00000407341:G75C;ENSP00000366068:G75C;ENSP00000366067:G75C;ENSP00000396672:G70C;ENSP00000354962:G70C;ENSP00000366060:G75C;ENSP00000351942:G75C	ENSP00000351942:G75C	G	-	1	0	TRPM6	76647009	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.528000	0.23002	-0.048000	0.13401	-0.390000	0.06520	GGT		TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
CENPP	401541	hgsc.bcm.edu	37	9	95094529	95094529	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:95094529A>G	ENST00000375587.3	+	2	700	c.185A>G	c.(184-186)cAt>cGt	p.H62R		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	62					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CAGCTTGGACATTTAGAATCA	0.343																																																	0			9											72.0	69.0	70.0					9																	95094529		2203	4300	6503	94134350	SO:0001583	missense	401541			AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.185A>G	9.37:g.95094529A>G	ENSP00000364737:p.His62Arg	Somatic		Capture	Illumina HiSeq	Phase_I	94134350	B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	A	7.029	0.560263	0.13498	.	.	ENSG00000188312	ENST00000375587	.	.	.	5.16	1.5	0.22942	.	0.922896	0.09246	N	0.828575	T	0.45478	0.1344	L	0.42245	1.32	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18398	-1.0338	9	0.22706	T	0.39	-1.7998	6.739	0.23424	0.6867:0.0:0.3133:0.0	.	62	Q6IPU0	CENPP_HUMAN	R	62	.	ENSP00000364737:H62R	H	+	2	0	CENPP	94134350	0.816000	0.29132	0.989000	0.46669	0.555000	0.35460	0.358000	0.20216	0.144000	0.18951	0.450000	0.29827	CAT		CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267	
BRINP1	1620	hgsc.bcm.edu	37	9	121929513	121929513	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:121929513G>A	ENST00000265922.3	-	8	2596	c.2135C>T	c.(2134-2136)cCg>cTg	p.P712L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	712			P -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.P712L(1)									GGGTTTCCCCGGGGCCACAGG	0.557																																																	1	Substitution - Missense(1)	kidney(1)	9											86.0	94.0	91.0					9																	121929513		2203	4300	6503	120969334	SO:0001583	missense	57805			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2135C>T	9.37:g.121929513G>A	ENSP00000265922:p.Pro712Leu	Somatic		Capture	Illumina HiSeq	Phase_I	120969334	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531209	0.64972	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.19250	2.16	5.64	4.73	0.59995	.	0.100848	0.64402	D	0.000001	T	0.23727	0.0574	M	0.61703	1.905	0.80722	D	1	P	0.35433	0.501	B	0.28011	0.085	T	0.07121	-1.0789	10	0.87932	D	0	-22.0002	16.2315	0.82344	0.0:0.0:0.8659:0.1341	.	712	O60477	DBC1_HUMAN	L	712	ENSP00000265922:P712L	ENSP00000265922:P712L	P	-	2	0	DBC1	120969334	1.000000	0.71417	0.961000	0.40146	0.998000	0.95712	7.234000	0.78134	1.508000	0.48769	0.585000	0.79938	CCG		BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
C9orf171	389799	hgsc.bcm.edu	37	9	135447838	135447838	+	Missense_Mutation	SNP	C	C	T	rs370319315		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:135447838C>T	ENST00000343036.2	+	7	952	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	C9orf171_ENST00000393216.2_Missense_Mutation_p.R266W	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	302										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AAAAGCCCACCGGGAAGAGTG	0.627																																																	0			9						C	TRP/ARG	0,4406		0,0,2203	60.0	57.0	58.0		904	0.8	0.0	9		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf171	NM_207417.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	302/321	135447838	1,13005	2203	4300	6503	134437659	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.904C>T	9.37:g.135447838C>T	ENSP00000343290:p.Arg302Trp	Somatic		Capture	Illumina HiSeq	Phase_I	134437659	Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757720	0.31137	0.0	1.16E-4	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.24151	1.87;1.87	5.53	0.786	0.18590	.	1.178800	0.06184	N	0.680006	T	0.11623	0.0283	N	0.08118	0	0.09310	N	1	P;P	0.48407	0.608;0.91	B;B	0.40101	0.241;0.319	T	0.09751	-1.0660	10	0.38643	T	0.18	.	2.4411	0.04494	0.1567:0.5106:0.1437:0.189	.	266;302	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	W	302;266	ENSP00000343290:R302W;ENSP00000376909:R266W	ENSP00000343290:R302W	R	+	1	2	C9orf171	134437659	0.009000	0.17119	0.017000	0.16124	0.760000	0.43138	0.508000	0.22692	0.238000	0.21222	-0.282000	0.10007	CGG		C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	
BARHL1	56751	hgsc.bcm.edu	37	9	135458566	135458566	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr9:135458566C>T	ENST00000263610.2	+	1	995	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	BARHL1_ENST00000542090.1_Missense_Mutation_p.R128C	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	128					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	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)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GCCTGGGGGCCGCCTTGCGGC	0.607																																																	0			9											29.0	38.0	35.0					9																	135458566		2182	4274	6456	134448387	SO:0001583	missense	56751			AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.382C>T	9.37:g.135458566C>T	ENSP00000263610:p.Arg128Cys	Somatic		Capture	Illumina HiSeq	Phase_I	134448387	Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573576	0.28092	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.91237	-2.81;-2.81	4.24	4.24	0.50183	.	0.060098	0.64402	D	0.000007	T	0.75503	0.3858	N	0.03115	-0.41	0.58432	D	0.999999	B	0.13145	0.007	B	0.06405	0.002	T	0.71185	-0.4667	10	0.52906	T	0.07	.	5.2538	0.15537	0.2041:0.6925:0.0:0.1034	.	128	Q9BZE3	BARH1_HUMAN	C	128	ENSP00000263610:R128C;ENSP00000444704:R128C	ENSP00000263610:R128C	R	+	1	0	BARHL1	134448387	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.711000	0.47177	2.180000	0.69256	0.643000	0.83706	CGC		BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2		
PAN3	255967	hgsc.bcm.edu	37	13	28851445	28851445	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:28851445A>G	ENST00000380958.3	+	15	2273	c.2121A>G	c.(2119-2121)cgA>cgG	p.R707R	PAN3_ENST00000282391.5_Silent_p.R395R|PAN3_ENST00000399613.1_Silent_p.R507R	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAATTCAGCGAGAGAATTTAC	0.343																																																	0			13											112.0	115.0	114.0					13																	28851445		2203	4300	6503	27749445	SO:0001819	synonymous_variant	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2121A>G	13.37:g.28851445A>G		Somatic		Capture	Illumina HiSeq	Phase_I	27749445		Silent	SNP	ENST00000380958.3	37	CCDS9329.2																																																																																				PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
TEX26	122046	hgsc.bcm.edu	37	13	31540436	31540436	+	Nonsense_Mutation	SNP	C	C	T	rs193234818	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:31540436C>T	ENST00000380473.3	+	5	560	c.547C>T	c.(547-549)Cga>Tga	p.R183*	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	183								p.R183*(2)									CACTGAATTCCGAAGGAATTA	0.423													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17160	0.0		0.0	False		,,,				2504	0.002																2	Substitution - Nonsense(2)	ovary(1)|lung(1)	13											80.0	77.0	78.0					13																	31540436		2203	4300	6503	30438436	SO:0001587	stop_gained	122046			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.547C>T	13.37:g.31540436C>T	ENSP00000369840:p.Arg183*	Somatic		Capture	Illumina HiSeq	Phase_I	30438436		Nonsense_Mutation	SNP	ENST00000380473.3	37	CCDS9339.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.2	4.615390	0.87359	.	.	ENSG00000175664	ENST00000380473	.	.	.	5.41	3.58	0.41010	.	0.100459	0.42821	D	0.000658	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9032	7.5701	0.27902	0.1625:0.7485:0.0:0.089	.	.	.	.	X	183	.	ENSP00000369840:R183X	R	+	1	2	C13orf26	30438436	1.000000	0.71417	0.988000	0.46212	0.709000	0.40893	1.359000	0.34113	1.410000	0.46936	0.650000	0.86243	CGA		TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325	
SMAD9	4093	hgsc.bcm.edu	37	13	37453599	37453599	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:37453599G>A	ENST00000399275.2	-	1	367	c.228C>T	c.(226-228)gaC>gaT	p.D76D	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000379826.4_Silent_p.D76D|SMAD9_ENST00000350148.5_Silent_p.D76D			O15198	SMAD9_HUMAN	SMAD family member 9	76	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCAGCCGCCCGTCCAGGGAGC	0.642																																																	0			13											43.0	47.0	46.0					13																	37453599		2203	4300	6503	36351599	SO:0001819	synonymous_variant	4093				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.228C>T	13.37:g.37453599G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36351599	A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	CCDS45032.1																																																																																				SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905	
CSNK1A1L	122011	hgsc.bcm.edu	37	13	37679002	37679002	+	Missense_Mutation	SNP	T	T	C	rs375626846		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:37679002T>C	ENST00000379800.3	-	1	801	c.392A>G	c.(391-393)aAt>aGt	p.N131S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTGTAGAAAATTCTTTGTATG	0.383																																																	0			13						T	SER/ASN	0,4406		0,0,2203	190.0	174.0	179.0		392	-0.3	0.0	13		179	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSNK1A1L	NM_145203.5	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	131/338	37679002	1,13005	2203	4300	6503	36577002	SO:0001583	missense	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.392A>G	13.37:g.37679002T>C	ENSP00000369126:p.Asn131Ser	Somatic		Capture	Illumina HiSeq	Phase_I	36577002	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	T	1.081	-0.666946	0.03428	0.0	1.16E-4	ENSG00000180138	ENST00000379800	T	0.21361	2.01	1.01	-0.268	0.12934	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048510	0.85682	N	0.000000	T	0.10165	0.0249	N	0.25485	0.75	0.31767	N	0.632625	B	0.23249	0.082	B	0.22152	0.038	T	0.27872	-1.0061	10	0.15066	T	0.55	.	4.4455	0.11595	0.0:0.2201:0.0:0.7799	.	131	Q8N752	KC1AL_HUMAN	S	131	ENSP00000369126:N131S	ENSP00000369126:N131S	N	-	2	0	CSNK1A1L	36577002	1.000000	0.71417	0.005000	0.12908	0.399000	0.30720	3.932000	0.56537	-0.111000	0.12001	-0.411000	0.06167	AAT		CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
FREM2	341640	hgsc.bcm.edu	37	13	39425912	39425912	+	Missense_Mutation	SNP	C	C	T	rs375661157		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:39425912C>T	ENST00000280481.7	+	11	7048	c.6832C>T	c.(6832-6834)Cgc>Tgc	p.R2278C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2278	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCAGTGATTCGCCAAGGAGA	0.453																																																	0			13						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	70.0	70.0		6832	5.6	1.0	13		70	0,8600		0,0,4300	no	missense	FREM2	NM_207361.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2278/3170	39425912	1,13005	2203	4300	6503	38323912	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6832C>T	13.37:g.39425912C>T	ENSP00000280481:p.Arg2278Cys	Somatic		Capture	Illumina HiSeq	Phase_I	38323912	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182222	0.78677	2.27E-4	0.0	ENSG00000150893	ENST00000280481	T	0.43688	0.94	5.62	5.62	0.85841	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79685	-0.1700	10	0.87932	D	0	.	19.655	0.95832	0.0:1.0:0.0:0.0	.	2278;2278	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2278	ENSP00000280481:R2278C	ENSP00000280481:R2278C	R	+	1	0	FREM2	38323912	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.761000	0.62243	2.650000	0.89964	0.650000	0.86243	CGC		FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
SPERT	220082	hgsc.bcm.edu	37	13	46288409	46288409	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:46288409G>A	ENST00000310521.1	+	3	1329	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	SPERT_ENST00000378966.3_Missense_Mutation_p.V381M	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	417						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.V417M(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CATTGACACCGTGACCGAGGT	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)	13											26.0	24.0	25.0					13																	46288409		2202	4300	6502	45186410	SO:0001583	missense	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.1249G>A	13.37:g.46288409G>A	ENSP00000309189:p.Val417Met	Somatic		Capture	Illumina HiSeq	Phase_I	45186410	A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626994	0.66901	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.57107	0.43;0.42	5.17	5.17	0.71159	.	0.000000	0.50627	D	0.000119	T	0.54013	0.1832	N	0.08118	0	0.32204	N	0.577393	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65191	-0.6228	10	0.72032	D	0.01	.	15.512	0.75789	0.0:0.0:1.0:0.0	.	381;417	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	M	417;381	ENSP00000309189:V417M;ENSP00000368249:V381M	ENSP00000309189:V417M	V	+	1	0	SPERT	45186410	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.530000	0.45641	2.680000	0.91292	0.609000	0.83330	GTG		SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
MED4	29079	hgsc.bcm.edu	37	13	48664500	48664500	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:48664500T>C	ENST00000258648.2	-	2	205	c.180A>G	c.(178-180)ggA>ggG	p.G60G	MED4_ENST00000378586.1_Silent_p.G14G	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	60					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		GGTTTTCCTCTCCAGCCTGTA	0.303																																					Pancreas(38;399 1016 9170 13426 20145)												0			13											122.0	142.0	135.0					13																	48664500		2203	4300	6503	47562501	SO:0001819	synonymous_variant	29079			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.180A>G	13.37:g.48664500T>C		Somatic		Capture	Illumina HiSeq	Phase_I	47562501	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Silent	SNP	ENST00000258648.2	37	CCDS9408.1																																																																																				MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166	
PCDH20	64881	hgsc.bcm.edu	37	13	61986437	61986437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:61986437G>A	ENST00000409186.1	-	5	3900	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.R599*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	599	Cadherin 4. {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)|poly(A) RNA binding (GO:0044822)	p.R572R(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCTCTTCTCGGTCCAGCTGA	0.463																																																	1	Substitution - coding silent(1)	ovary(1)	13											112.0	110.0	110.0					13																	61986437		2203	4300	6503	60884438	SO:0001587	stop_gained	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1795C>T	13.37:g.61986437G>A	ENSP00000386653:p.Arg599*	Somatic		Capture	Illumina HiSeq	Phase_I	60884438	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Nonsense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	40	8.030738	0.98619	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	.	.	.	5.94	3.84	0.44239	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6506	0.62308	0.0:0.0:0.5205:0.4795	.	.	.	.	X	599;599;345	.	ENSP00000351500:R345X	R	-	1	2	PCDH20	60884438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.222000	0.51223	1.295000	0.44724	0.557000	0.71058	CGA		PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
PCDH9	5101	hgsc.bcm.edu	37	13	67799663	67799663	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:67799663G>A	ENST00000377865.2	-	1	3044	c.2910C>T	c.(2908-2910)gaC>gaT	p.D970D	PCDH9_ENST00000328454.5_Silent_p.D970D|PCDH9_ENST00000544246.1_Silent_p.D970D|PCDH9_ENST00000456367.1_Silent_p.D970D|PCDH9_ENST00000377861.3_Silent_p.D970D			Q9HC56	PCDH9_HUMAN	protocadherin 9	970					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D970E(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAAAGGTGTTGTCCAAAGGGA	0.483																																																	1	Substitution - Missense(1)	ovary(1)	13											145.0	142.0	143.0					13																	67799663		2203	4300	6503	66697664	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2910C>T	13.37:g.67799663G>A		Somatic		Capture	Illumina HiSeq	Phase_I	66697664	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																				PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
CCDC168	643677	hgsc.bcm.edu	37	13	103384217	103384217	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr13:103384217G>A	ENST00000322527.2	-	1	4942	c.4943C>T	c.(4942-4944)cCc>cTc	p.P1648L		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1648																	ACACTCTGTGGGTGTCAGAAT	0.433																																																	0			13											137.0	109.0	118.0					13																	103384217		692	1590	2282	102182218	SO:0001583	missense	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.4943C>T	13.37:g.103384217G>A	ENSP00000320232:p.Pro1648Leu	Somatic		Capture	Illumina HiSeq	Phase_I	102182218	Q8N800	Missense_Mutation	SNP	ENST00000322527.2	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.234765	0.79800	.	.	ENSG00000175820	ENST00000322527	T	0.09630	2.96	3.86	2.92	0.33932	.	.	.	.	.	T	0.13372	0.0324	N	0.14661	0.345	0.28834	N	0.897001	D	0.76494	0.999	D	0.71656	0.974	T	0.14868	-1.0457	9	0.19590	T	0.45	.	8.2533	0.31739	0.0:0.0:0.692:0.308	.	1648	Q8NDH2	CC168_HUMAN	L	1648	ENSP00000320232:P1648L	ENSP00000320232:P1648L	P	-	2	0	CCDC168	102182218	0.192000	0.23301	0.788000	0.31933	0.794000	0.44872	1.693000	0.37742	1.038000	0.40049	0.557000	0.71058	CCC		CCDC168-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146197	
ARHGAP21	57584	hgsc.bcm.edu	37	10	24873346	24873346	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:24873346G>T	ENST00000396432.2	-	26	6358	c.5872C>A	c.(5872-5874)Ctt>Att	p.L1958I		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1957					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCAGTTTAAAGACAGGGATGA	0.408																																																	0			10											89.0	86.0	87.0					10																	24873346		2203	4300	6503	24913352	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5872C>A	10.37:g.24873346G>T	ENSP00000379709:p.Leu1958Ile	Somatic		Capture	Illumina HiSeq	Phase_I	24913352	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586058	0.66105	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.13089	2.62	5.55	4.62	0.57501	.	0.069015	0.64402	D	0.000016	T	0.13713	0.0332	L	0.43923	1.385	0.80722	D	1	P	0.48294	0.908	B	0.37692	0.256	T	0.02059	-1.1221	10	0.87932	D	0	.	16.0791	0.80989	0.0:0.1344:0.8656:0.0	.	1957	Q5T5U3	RHG21_HUMAN	I	1958;1407	ENSP00000379709:L1958I	ENSP00000379709:L1958I	L	-	1	0	ARHGAP21	24913352	1.000000	0.71417	0.939000	0.37840	0.957000	0.61999	4.934000	0.63491	1.264000	0.44198	0.655000	0.94253	CTT		ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
TMEM72	643236	hgsc.bcm.edu	37	10	45429195	45429195	+	5'UTR	SNP	C	C	T	rs369873974		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:45429195C>T	ENST00000544540.1	+	0	450				TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TTCCTCCACCCGGTCCTGGTC	0.627																																																	0			10						C	LEU/PRO	1,3135		0,1,1567	50.0	52.0	52.0		320	5.6	1.0	10		52	0,7164		0,0,3582	no	missense	TMEM72	NM_001123376.1	98	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	probably-damaging	107/276	45429195	1,10299	1568	3582	5150	44749201	SO:0001623	5_prime_UTR_variant	643236			AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.-35C>T	10.37:g.45429195C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44749201	A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.359703	0.82353	3.19E-4	0.0	ENSG00000187783	ENST00000389583	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80513	-0.1349	9	0.87932	D	0	-28.2346	15.4555	0.75311	0.0:1.0:0.0:0.0	.	107	A0PK05	TMM72_HUMAN	L	107	.	ENSP00000374234:P107L	P	+	2	0	TMEM72	44749201	0.999000	0.42202	0.997000	0.53966	0.815000	0.46073	5.357000	0.66058	2.793000	0.96121	0.655000	0.94253	CCG		TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376	
ERCC6	2074	hgsc.bcm.edu	37	10	50678894	50678894	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:50678894T>C	ENST00000355832.5	-	18	3190	c.3112A>G	c.(3112-3114)Aga>Gga	p.R1038G	ERCC6_ENST00000542458.1_Missense_Mutation_p.R408G|ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1038			R -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGAATCCTTCTTTTTAGATGG	0.388								Direct reversal of damage;Nucleotide excision repair (NER)																																									0			10											126.0	127.0	127.0					10																	50678894		2203	4300	6503	50348900	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3112A>G	10.37:g.50678894T>C	ENSP00000348089:p.Arg1038Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50348900	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	9.409	1.080124	0.20309	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83419	-1.72;-1.46	5.95	4.8	0.61643	.	.	.	.	.	T	0.79695	0.4490	M	0.64404	1.975	0.23809	N	0.996785	B;B	0.13145	0.002;0.007	B;B	0.08055	0.001;0.003	T	0.65146	-0.6239	9	0.25106	T	0.35	-18.2246	11.3011	0.49306	0.0:0.0:0.3622:0.6378	.	1038;415	Q03468;Q59FF6	ERCC6_HUMAN;.	G	1038;415;408	ENSP00000348089:R1038G;ENSP00000445134:R408G	ENSP00000348089:R1038G	R	-	1	2	ERCC6	50348900	0.994000	0.37717	0.351000	0.25721	0.072000	0.16883	1.898000	0.39809	1.039000	0.40074	0.533000	0.62120	AGA		ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
PRF1	5551	hgsc.bcm.edu	37	10	72360291	72360291	+	Missense_Mutation	SNP	C	C	A	rs139336186		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:72360291C>A	ENST00000441259.1	-	2	528	c.368G>T	c.(367-369)cGt>cTt	p.R123L	PRF1_ENST00000373209.2_Missense_Mutation_p.R123L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	123	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		R -> H. {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.R123H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCGGATGCTACGAGCCGCATC	0.642			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	1	Substitution - Missense(1)	large_intestine(1)	10	GRCh37	CM071929	PRF1	M	rs139336186						44.0	42.0	42.0					10																	72360291		2203	4299	6502	72030297	SO:0001583	missense	55893	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.368G>T	10.37:g.72360291C>A	ENSP00000398568:p.Arg123Leu	Somatic		Capture	Illumina HiSeq	Phase_I	72030297	B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543579	0.45280	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91295	-2.82;-2.82	5.65	-6.67	0.01783	Membrane attack complex component/perforin (MACPF) domain (1);	2.273180	0.01260	N	0.009149	D	0.82600	0.5072	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.70528	-0.4847	10	0.40728	T	0.16	0.2052	9.5638	0.39385	0.0:0.1071:0.2941:0.5988	.	123	P14222	PERF_HUMAN	L	123	ENSP00000362305:R123L;ENSP00000398568:R123L	ENSP00000316746:R123L	R	-	2	0	PRF1	72030297	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.444000	0.21661	-1.374000	0.02131	-0.136000	0.14681	CGT		PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041	
ZMIZ1	57178	hgsc.bcm.edu	37	10	81058323	81058323	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:81058323T>A	ENST00000334512.5	+	15	2224	c.1652T>A	c.(1651-1653)cTg>cAg	p.L551Q		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	551	Pro-rich.		L -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ATGAGCGCTCTGCCACCACCC	0.672																																																	0			10											85.0	85.0	85.0					10																	81058323		2203	4300	6503	80728329	SO:0001583	missense	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1652T>A	10.37:g.81058323T>A	ENSP00000334474:p.Leu551Gln	Somatic		Capture	Illumina HiSeq	Phase_I	80728329	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022392	0.75275	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.49720	0.77	5.12	5.12	0.69794	.	0.000000	0.32314	N	0.006280	T	0.35364	0.0929	N	0.13043	0.29	0.80722	D	1	P	0.42010	0.768	B	0.42112	0.376	T	0.23762	-1.0179	10	0.40728	T	0.16	-11.7383	14.9189	0.70818	0.0:0.0:0.0:1.0	.	551	Q9ULJ6	ZMIZ1_HUMAN	Q	551;481;458	ENSP00000334474:L551Q	ENSP00000334474:L551Q	L	+	2	0	ZMIZ1	80728329	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.630000	0.83225	1.936000	0.56123	0.379000	0.24179	CTG		ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
PTEN	5728	hgsc.bcm.edu	37	10	89692918	89692918	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:89692918G>A	ENST00000371953.3	+	5	1759	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	134	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		M -> L (in prostate cancer; no effect on protein phosphatase activity; reduced phosphatase activity towards Ins(1,3,4,5)P3 but retains PtdIns(3,4,5)P3 phosphatase activity). {ECO:0000269|PubMed:9072974}.		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.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A121_F145del(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.M134I(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)		CTGGTGTAATGATATGTGCAT	0.393		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"""	53	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(1)|Deletion - In frame(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10											129.0	121.0	124.0					10																	89692918		2203	4300	6503	89682898	SO:0001583	missense	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.402G>A	10.37:g.89692918G>A	ENSP00000361021:p.Met134Ile	Somatic		Capture	Illumina HiSeq	Phase_I	89682898	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122120	0.94429	.	.	ENSG00000171862	ENST00000371953	D	0.83992	-1.79	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	L	0.58428	1.81	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	D	0.88569	0.3128	9	.	.	.	-2.5011	18.7776	0.91918	0.0:0.0:1.0:0.0	.	134	P60484	PTEN_HUMAN	I	134	ENSP00000361021:M134I	.	M	+	3	0	PTEN	89682898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	ATG		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:89692923G>A	ENST00000371953.3	+	5	1764	c.407G>A	c.(406-408)tGt>tAt	p.C136Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		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.C136Y(8)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(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)		GTAATGATATGTGCATATTTA	0.393		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"""	69	Whole gene deletion(37)|Substitution - Missense(13)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(14)|endometrium(10)|breast(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|meninges(1)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CM983501	PTEN	M							123.0	117.0	119.0					10																	89692923		2203	4300	6503	89682903	SO:0001583	missense	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.407G>A	10.37:g.89692923G>A	ENSP00000361021:p.Cys136Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	89682903	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658698	0.88154	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	9	.	.	.	-4.1412	18.7776	0.91918	0.0:0.0:1.0:0.0	.	136	P60484	PTEN_HUMAN	Y	136	ENSP00000361021:C136Y	.	C	+	2	0	PTEN	89682903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	TGT		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ALDH18A1	5832	hgsc.bcm.edu	37	10	97387287	97387287	+	Silent	SNP	T	T	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:97387287T>G	ENST00000371224.2	-	9	1127	c.990A>C	c.(988-990)ggA>ggC	p.G330G	ALDH18A1_ENST00000371221.3_Silent_p.G328G	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	330	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TTGGGTGGGTTCCATTGGCAA	0.463																																																	0			10											156.0	153.0	154.0					10																	97387287		2203	4300	6503	97377277	SO:0001819	synonymous_variant	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.990A>C	10.37:g.97387287T>G		Somatic		Capture	Illumina HiSeq	Phase_I	97377277	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	CCDS7443.1																																																																																				ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	
PCGF6	84108	hgsc.bcm.edu	37	10	105086323	105086323	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:105086323T>C	ENST00000369847.3	-	8	944	c.877A>G	c.(877-879)Aga>Gga	p.R293G	PCGF6_ENST00000337211.4_Missense_Mutation_p.R218G|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	293					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R293G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		ATTTTTCTTCTGAGGAATTTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)	10											88.0	87.0	87.0					10																	105086323		2203	4300	6503	105076313	SO:0001583	missense	84108			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.877A>G	10.37:g.105086323T>C	ENSP00000358862:p.Arg293Gly	Somatic		Capture	Illumina HiSeq	Phase_I	105076313	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657497	0.47467	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.35605	1.3;1.37	5.0	0.945	0.19543	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	M	0.83118	2.625	0.30729	N	0.747404	D;D	0.62365	0.99;0.991	P;P	0.58013	0.794;0.831	T	0.55879	-0.8071	10	0.66056	D	0.02	.	7.5775	0.27944	0.1312:0.0:0.4047:0.4641	.	218;293	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	G	293;218	ENSP00000358862:R293G;ENSP00000338845:R218G	ENSP00000338845:R218G	R	-	1	2	PCGF6	105076313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.932000	0.28884	0.222000	0.20900	0.379000	0.24179	AGA		PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154	
FGFR2	2263	hgsc.bcm.edu	37	10	123274795	123274795	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:123274795A>G	ENST00000358487.5	-	9	1395	c.1123T>C	c.(1123-1125)Tac>Cac	p.Y375H	FGFR2_ENST00000360144.3_Missense_Mutation_p.Y287H|FGFR2_ENST00000369056.1_Missense_Mutation_p.Y376H|FGFR2_ENST00000478859.1_Missense_Mutation_p.Y147H|FGFR2_ENST00000351936.6_Missense_Mutation_p.Y375H|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.Y261H|FGFR2_ENST00000346997.2_Missense_Mutation_p.Y375H|FGFR2_ENST00000457416.2_Missense_Mutation_p.Y376H|FGFR2_ENST00000369061.4_Missense_Mutation_p.Y263H|FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000357555.5_Missense_Mutation_p.Y286H|FGFR2_ENST00000356226.4_Missense_Mutation_p.Y260H	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	375			Y -> C (in PS and BSTVS). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:12000365, ECO:0000269|PubMed:8696350}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATCTCCAGGTAGTCTGGGGAA	0.488		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0			10											108.0	114.0	112.0					10																	123274795		2203	4300	6503	123264785	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1123T>C	10.37:g.123274795A>G	ENSP00000351276:p.Tyr375His	Somatic		Capture	Illumina HiSeq	Phase_I	123264785	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650986	0.87958	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	M	0.84326	2.69	0.80722	D	1	B;D;D;D;D;B;D	0.69078	0.273;0.985;0.99;0.991;0.994;0.117;0.997	B;P;P;D;P;B;D	0.67548	0.04;0.905;0.881;0.926;0.896;0.086;0.952	D	0.93560	0.6894	10	0.49607	T	0.09	.	16.2041	0.82108	1.0:0.0:0.0:0.0	.	394;376;286;260;375;287;376	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17	.;.;.;.;FGFR2_HUMAN;.;.	H	286;378;263;375;260;261;375;376;375;287;376;376;286	ENSP00000350166:Y286H;ENSP00000358057:Y263H;ENSP00000351276:Y375H;ENSP00000348559:Y260H;ENSP00000358055:Y261H;ENSP00000263451:Y375H;ENSP00000410294:Y376H;ENSP00000309878:Y375H;ENSP00000353262:Y287H;ENSP00000358052:Y376H;ENSP00000358054:Y376H;ENSP00000337665:Y286H	ENSP00000337665:Y286H	Y	-	1	0	FGFR2	123264785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.248000	0.95456	2.219000	0.72066	0.533000	0.62120	TAC		FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
CUZD1	50624	hgsc.bcm.edu	37	10	124598699	124598699	+	Silent	SNP	G	G	A	rs141440856		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:124598699G>A	ENST00000368904.1	-	5	1231	c.282C>T	c.(280-282)gaC>gaT	p.D94D	CUZD1_ENST00000392790.1_Silent_p.D94D|CUZD1_ENST00000545804.1_Silent_p.D94D					CUB and zona pellucida-like domains 1									p.D94D(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGGAGGTTCCGTCAAAGACTT	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20863	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	ovary(1)	10						G		0,4406		0,0,2203	181.0	169.0	173.0		282	-2.7	0.0	10	dbSNP_134	173	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CUZD1	NM_022034.5		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		94/608	124598699	2,13004	2203	4300	6503	124588689	SO:0001819	synonymous_variant	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.282C>T	10.37:g.124598699G>A		Somatic		Capture	Illumina HiSeq	Phase_I	124588689		Silent	SNP	ENST00000368904.1	37	CCDS7631.1																																																																																				CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
TERT	7015	hgsc.bcm.edu	37	5	1264569	1264569	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:1264569G>A	ENST00000310581.5	-	11	2850	c.2793C>T	c.(2791-2793)tgC>tgT	p.C931C	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	931	Primer grip sequence.|Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCAGCAGGCCGCACCAGGGGA	0.647									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0			5											34.0	42.0	39.0					5																	1264569		2037	4190	6227	1317569	SO:0001819	synonymous_variant	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2793C>T	5.37:g.1264569G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1317569	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	CCDS3861.2																																																																																				TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
FBXL7	23194	hgsc.bcm.edu	37	5	15936756	15936756	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:15936756G>A	ENST00000504595.1	+	4	1418	c.937G>A	c.(937-939)Gac>Aac	p.D313N	FBXL7_ENST00000510662.1_Missense_Mutation_p.D266N|FBXL7_ENST00000329673.7_Missense_Mutation_p.D301N|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	313					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCGCCTGACCGACGAAGGCCT	0.667																																																	0			5											35.0	39.0	37.0					5																	15936756		2187	4282	6469	15989756	SO:0001583	missense	23194			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.937G>A	5.37:g.15936756G>A	ENSP00000423630:p.Asp313Asn	Somatic		Capture	Illumina HiSeq	Phase_I	15989756	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231581	0.95207	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.11063	2.81;4.37;2.81	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00664	-1.1620	10	0.56958	D	0.05	.	19.109	0.93309	0.0:0.0:1.0:0.0	.	313	Q9UJT9	FBXL7_HUMAN	N	313;266;301	ENSP00000423630:D313N;ENSP00000425184:D266N;ENSP00000329632:D301N	ENSP00000329632:D301N	D	+	1	0	FBXL7	15989756	1.000000	0.71417	0.988000	0.46212	0.944000	0.59088	9.869000	0.99810	2.525000	0.85131	0.655000	0.94253	GAC		FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
PDZD2	23037	hgsc.bcm.edu	37	5	32089484	32089484	+	Missense_Mutation	SNP	C	C	T	rs200449834		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:32089484C>T	ENST00000438447.1	+	20	6318	c.5930C>T	c.(5929-5931)aCg>aTg	p.T1977M	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1977M			O15018	PDZD2_HUMAN	PDZ domain containing 2	1977					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGTCTGACACGAGCATCAGG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		16643	0.001		0.0	False		,,,				2504	0.0																0			5						C	MET/THR	0,4406		0,0,2203	104.0	99.0	101.0		5930	4.2	0.0	5		101	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PDZD2	NM_178140.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1977/2840	32089484	1,13005	2203	4300	6503	32125241	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5930C>T	5.37:g.32089484C>T	ENSP00000402033:p.Thr1977Met	Somatic		Capture	Illumina HiSeq	Phase_I	32125241	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116334	0.56505	0.0	1.16E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.10005	2.92;2.92	4.2	4.2	0.49525	.	0.433550	0.19832	N	0.105069	T	0.18467	0.0443	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	P	0.54210	0.745	T	0.02208	-1.1195	10	0.72032	D	0.01	.	12.339	0.55083	0.0:1.0:0.0:0.0	.	1977	O15018	PDZD2_HUMAN	M	1977;1778;1977	ENSP00000402033:T1977M;ENSP00000282493:T1977M	ENSP00000282493:T1977M	T	+	2	0	PDZD2	32125241	0.021000	0.18746	0.021000	0.16686	0.032000	0.12392	1.019000	0.30014	2.630000	0.89119	0.650000	0.86243	ACG		PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
DAB2	1601	hgsc.bcm.edu	37	5	39382915	39382915	+	Silent	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:39382915A>G	ENST00000320816.6	-	10	1613	c.1146T>C	c.(1144-1146)tcT>tcC	p.S382S	DAB2_ENST00000545653.1_Silent_p.S361S|DAB2_ENST00000509337.1_Silent_p.S361S|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	382	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTCTCTTTCAGATACCCCAT	0.517																																																	0			5											91.0	95.0	94.0					5																	39382915		2203	4300	6503	39418672	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1146T>C	5.37:g.39382915A>G		Somatic		Capture	Illumina HiSeq	Phase_I	39418672	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
CARD6	84674	hgsc.bcm.edu	37	5	40853347	40853347	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:40853347T>A	ENST00000254691.5	+	3	2112	c.1913T>A	c.(1912-1914)cTc>cAc	p.L638H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	638					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTTCTTGCCTCAGATGTGTG	0.517																																																	0			5											141.0	143.0	143.0					5																	40853347		2203	4300	6503	40889104	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1913T>A	5.37:g.40853347T>A	ENSP00000254691:p.Leu638His	Somatic		Capture	Illumina HiSeq	Phase_I	40889104	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.903234	0.52333	.	.	ENSG00000132357	ENST00000254691	T	0.14144	2.53	5.0	5.0	0.66597	.	0.000000	0.47852	D	0.000218	T	0.32645	0.0836	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01993	-1.1233	10	0.39692	T	0.17	-15.3616	11.0274	0.47753	0.0:0.0:0.0:1.0	.	638	Q9BX69	CARD6_HUMAN	H	638	ENSP00000254691:L638H	ENSP00000254691:L638H	L	+	2	0	CARD6	40889104	0.011000	0.17503	0.981000	0.43875	0.776000	0.43924	0.626000	0.24492	2.107000	0.64212	0.459000	0.35465	CTC		CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
VCAN	1462	hgsc.bcm.edu	37	5	82834548	82834548	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:82834548C>A	ENST00000265077.3	+	8	6291	c.5726C>A	c.(5725-5727)tCa>tAa	p.S1909*	VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S922*|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1909	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATAGTGATTTCAGAGCGATTA	0.413																																																	0			5											102.0	108.0	106.0					5																	82834548		2201	4300	6501	82870304	SO:0001587	stop_gained	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5726C>A	5.37:g.82834548C>A	ENSP00000265077:p.Ser1909*	Somatic		Capture	Illumina HiSeq	Phase_I	82870304	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	47	13.054789	0.99716	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	5.9	5.04	0.67666	.	0.381500	0.22050	N	0.065336	.	.	.	.	.	.	0.36652	D	0.877432	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2845	0.54786	0.0:0.9211:0.0:0.0789	.	.	.	.	X	1909;922;922	.	ENSP00000265077:S1909X	S	+	2	0	VCAN	82870304	0.091000	0.21658	0.006000	0.13384	0.023000	0.10783	2.292000	0.43549	1.510000	0.48803	0.655000	0.94253	TCA		VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
GPR98	84059	hgsc.bcm.edu	37	5	89940600	89940600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:89940600C>T	ENST00000405460.2	+	15	2908	c.2812C>T	c.(2812-2814)Caa>Taa	p.Q938*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	938	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGACTTTACACAAGATGTATT	0.363																																																	0			5											247.0	230.0	235.0					5																	89940600		1861	4099	5960	89976356	SO:0001587	stop_gained	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2812C>T	5.37:g.89940600C>T	ENSP00000384582:p.Gln938*	Somatic		Capture	Illumina HiSeq	Phase_I	89976356	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.619269|6.619269	0.97709|0.97709	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	.|T	.|0.28255	.|1.62	5.51|5.51	-0.0341|-0.0341	0.13898|0.13898	.|.	0.666605|.	0.16552|.	N|.	0.209454|.	.|T	.|0.27313	.|0.0670	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30592	.|-0.9973	.|6	0.12430|0.66056	T|D	0.62|0.02	.|.	4.3199|4.3199	0.11011|0.11011	0.3163:0.2049:0.4028:0.0761|0.3163:0.2049:0.4028:0.0761	.|.	.|.	.|.	.|.	X|I	938|526	.|ENSP00000424736:T526I	ENSP00000296619:Q938X|ENSP00000424736:T526I	Q|T	+|+	1|2	0|0	GPR98|GPR98	89976356|89976356	0.012000|0.012000	0.17670|0.17670	0.924000|0.924000	0.36721|0.36721	0.663000|0.663000	0.39108|0.39108	0.170000|0.170000	0.16663|0.16663	0.242000|0.242000	0.21303|0.21303	-0.531000|-0.531000	0.04308|0.04308	CAA|ACA		GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
APC	324	hgsc.bcm.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*|CTC-554D6.1_ENST00000520401.1_Intron			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	112175148	112175148	+	Missense_Mutation	SNP	A	A	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:112175148A>T	ENST00000457016.1	+	16	4237	c.3857A>T	c.(3856-3858)gAa>gTa	p.E1286V	APC_ENST00000257430.4_Missense_Mutation_p.E1286V|APC_ENST00000508376.2_Missense_Mutation_p.E1286V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1286	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.I1287fs*1(1)|p.K1192fs*3(1)|p.?(1)|p.E1286G(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)		GCTGAAGATGAAATAGGATGT	0.348		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"""	4	Deletion - Frameshift(2)|Substitution - Missense(1)|Unknown(1)	ovary(1)|large_intestine(1)|soft_tissue(1)|skin(1)	5											55.0	57.0	56.0					5																	112175148		2202	4300	6502	112203047	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.3857A>T	5.37:g.112175148A>T	ENSP00000413133:p.Glu1286Val	Somatic		Capture	Illumina HiSeq	Phase_I	112203047	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178993	0.38511	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.91792	-2.64;-2.64;-2.64;-2.91	6.03	6.03	0.97812	.	0.179817	0.47455	D	0.000223	D	0.93096	0.7802	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66716	0.946;0.946	D	0.92340	0.5881	9	.	.	.	-25.935	16.2316	0.82347	1.0:0.0:0.0:0.0	.	1288;1286	Q4LE70;P25054	.;APC_HUMAN	V	1286	ENSP00000413133:E1286V;ENSP00000257430:E1286V;ENSP00000427089:E1286V;ENSP00000423828:E1286V	.	E	+	2	0	APC	112203047	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.472000	0.66768	2.308000	0.77769	0.533000	0.62120	GAA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175308	112175308	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:112175308T>C	ENST00000457016.1	+	16	4397	c.4017T>C	c.(4015-4017)ggT>ggC	p.G1339G	APC_ENST00000257430.4_Silent_p.G1339G|APC_ENST00000508376.2_Silent_p.G1339G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1339	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.S1335fs*70(1)|p.K1192fs*3(1)|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)		GACTGCAGGGTTCTAGTTTAT	0.458		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"""	3	Deletion - Frameshift(2)|Unknown(1)	large_intestine(1)|soft_tissue(1)|skin(1)	5											56.0	60.0	59.0					5																	112175308		2202	4300	6502	112203207	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.4017T>C	5.37:g.112175308T>C		Somatic		Capture	Illumina HiSeq	Phase_I	112203207	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	112175325	112175325	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:112175325A>G	ENST00000457016.1	+	16	4414	c.4034A>G	c.(4033-4035)gAa>gGa	p.E1345G	APC_ENST00000257430.4_Missense_Mutation_p.E1345G|APC_ENST00000508376.2_Missense_Mutation_p.E1345G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1345	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.E1345fs*8(1)|p.S1335fs*70(1)|p.K1192fs*3(1)|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)		TTATCTTCAGAATCAGCCAGG	0.483		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"""	4	Deletion - Frameshift(3)|Unknown(1)	large_intestine(2)|soft_tissue(1)|skin(1)	5											58.0	62.0	61.0					5																	112175325		2202	4300	6502	112203224	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.4034A>G	5.37:g.112175325A>G	ENSP00000413133:p.Glu1345Gly	Somatic		Capture	Illumina HiSeq	Phase_I	112203224	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.724161	0.30593	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89552	-2.53;-2.53;-2.53	6.03	6.03	0.97812	.	0.216974	0.45867	D	0.000337	T	0.81645	0.4866	N	0.19112	0.55	0.35676	D	0.813722	B;B	0.23937	0.094;0.094	B;B	0.22386	0.039;0.024	T	0.80412	-0.1393	9	.	.	.	-25.7885	16.2316	0.82347	1.0:0.0:0.0:0.0	.	1347;1345	Q4LE70;P25054	.;APC_HUMAN	G	1345	ENSP00000413133:E1345G;ENSP00000257430:E1345G;ENSP00000427089:E1345G	.	E	+	2	0	APC	112203224	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.023000	0.57211	2.308000	0.77769	0.533000	0.62120	GAA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175348	112175348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:112175348G>T	ENST00000457016.1	+	16	4437	c.4057G>T	c.(4057-4059)Gaa>Taa	p.E1353*	APC_ENST00000257430.4_Nonsense_Mutation_p.E1353*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1353*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1353	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.E1353*(12)|p.E1353fs*19(1)|p.K1192fs*3(1)|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)		CAAAGCTGTTGAATTTTCTTC	0.483		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"""	15	Substitution - Nonsense(12)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(13)|soft_tissue(1)|skin(1)	5	GRCh37	CD972008	APC	D							62.0	65.0	64.0					5																	112175348		2202	4300	6502	112203247	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.4057G>T	5.37:g.112175348G>T	ENSP00000413133:p.Glu1353*	Somatic		Capture	Illumina HiSeq	Phase_I	112203247	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	40	8.431314	0.98808	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	6.03	0.97812	.	0.111916	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.8759	20.1672	0.98154	0.0:0.0:1.0:0.0	.	.	.	.	X	1353	.	.	E	+	1	0	APC	112203247	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.308000	0.65768	2.861000	0.98227	0.655000	0.94253	GAA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
TRIM36	55521	hgsc.bcm.edu	37	5	114469751	114469751	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:114469751C>A	ENST00000282369.3	-	8	1461	c.1340G>T	c.(1339-1341)aGc>aTc	p.S447I	TRIM36_ENST00000513154.1_Missense_Mutation_p.S435I|TRIM36_ENST00000514154.1_Missense_Mutation_p.S292I	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	447	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGAACATAGCTATCAGCTTT	0.363																																																	0			5											123.0	114.0	117.0					5																	114469751		2202	4300	6502	114497650	SO:0001583	missense	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1340G>T	5.37:g.114469751C>A	ENSP00000282369:p.Ser447Ile	Somatic		Capture	Illumina HiSeq	Phase_I	114497650	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905590	0.52333	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.58652	0.32;0.32;0.32	5.63	4.76	0.60689	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.472746	0.24681	N	0.036478	T	0.53948	0.1828	L	0.44542	1.39	0.80722	D	1	P;P	0.37276	0.533;0.589	B;P	0.45610	0.317;0.487	T	0.55010	-0.8207	10	0.49607	T	0.09	.	6.3583	0.21414	0.1214:0.6198:0.1863:0.0724	.	435;447	E9PFI8;Q9NQ86	.;TRI36_HUMAN	I	447;435;292	ENSP00000282369:S447I;ENSP00000423934:S435I;ENSP00000424259:S292I	ENSP00000282369:S447I	S	-	2	0	TRIM36	114497650	0.995000	0.38212	1.000000	0.80357	0.971000	0.66376	0.768000	0.26590	1.375000	0.46248	0.655000	0.94253	AGC		TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	
FSTL4	23105	hgsc.bcm.edu	37	5	132534902	132534902	+	Missense_Mutation	SNP	A	A	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:132534902A>T	ENST00000265342.7	-	16	2663	c.2414T>A	c.(2413-2415)cTc>cAc	p.L805H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	805						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L805H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGTGTGAGGAGGTACTGTCC	0.582																																																	1	Substitution - Missense(1)	central_nervous_system(1)	5											69.0	66.0	67.0					5																	132534902		2203	4300	6503	132562801	SO:0001583	missense	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2414T>A	5.37:g.132534902A>T	ENSP00000265342:p.Leu805His	Somatic		Capture	Illumina HiSeq	Phase_I	132562801	Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123389	0.77436	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.38077	1.16	5.04	5.04	0.67666	.	0.068048	0.64402	D	0.000012	T	0.62405	0.2425	M	0.82323	2.585	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.80764	0.966;0.994	T	0.68857	-0.5298	10	0.87932	D	0	-23.9565	13.6113	0.62080	1.0:0.0:0.0:0.0	.	805;454	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	H	805;636	ENSP00000265342:L805H	ENSP00000265342:L805H	L	-	2	0	FSTL4	132562801	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	8.962000	0.93254	1.897000	0.54924	0.477000	0.44152	CTC		FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	
PSD2	84249	hgsc.bcm.edu	37	5	139202353	139202353	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:139202353C>T	ENST00000274710.3	+	7	1458	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	418	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAACACGGACCTGCAC	0.607																																																	0			5											97.0	65.0	76.0					5																	139202353		2203	4300	6503	139182537	SO:0001583	missense	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1253C>T	5.37:g.139202353C>T	ENSP00000274710:p.Thr418Met	Somatic		Capture	Illumina HiSeq	Phase_I	139182537	D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553149	0.86127	.	.	ENSG00000146005	ENST00000274710	T	0.67171	-0.25	4.91	4.91	0.64330	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91041	0.4871	10	0.87932	D	0	.	16.6356	0.85058	0.0:1.0:0.0:0.0	.	418	Q9BQI7	PSD2_HUMAN	M	418	ENSP00000274710:T418M	ENSP00000274710:T418M	T	+	2	0	PSD2	139182537	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.990000	0.76225	2.428000	0.82296	0.455000	0.32223	ACG		PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289	
ZMAT2	153527	hgsc.bcm.edu	37	5	140084144	140084144	+	Silent	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:140084144G>A	ENST00000274712.3	+	5	571	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	148						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGAAGGAGCTCAGAGAAG	0.458																																																	0			5											141.0	142.0	142.0					5																	140084144		2203	4300	6503	140064328	SO:0001819	synonymous_variant	153527			AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.444G>A	5.37:g.140084144G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140064328		Silent	SNP	ENST00000274712.3	37	CCDS4239.1																																																																																				ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723	
PCDHGA7	56108	hgsc.bcm.edu	37	5	140762692	140762692	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:140762692G>A	ENST00000518325.1	+	1	226	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	76	Cadherin 1. {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)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTTTCGCCCTGAACCA	0.622																																																	0			5											52.0	61.0	58.0					5																	140762692		2191	4297	6488	140742876	SO:0001583	missense	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.226G>A	5.37:g.140762692G>A	ENSP00000430024:p.Ala76Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140742876	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	8.635	0.894608	0.17613	.	.	ENSG00000253537	ENST00000518325	T	0.27557	1.66	4.86	-0.687	0.11320	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	M	0.70842	2.15	0.09310	N	1	B;B	0.27853	0.063;0.191	B;B	0.31337	0.119;0.128	T	0.34750	-0.9816	9	0.19590	T	0.45	.	6.5182	0.22260	0.1479:0.0:0.2897:0.5624	.	76;76	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	T	76	ENSP00000430024:A76T	ENSP00000430024:A76T	A	+	1	0	PCDHGA7	140742876	0.000000	0.05858	0.288000	0.24862	0.766000	0.43426	0.150000	0.16263	-0.408000	0.07565	-0.182000	0.12963	GCC		PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
SPINK5	11005	hgsc.bcm.edu	37	5	147510894	147510894	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:147510894G>A	ENST00000256084.7	+	31	3079	c.3037G>A	c.(3037-3039)Gtc>Atc	p.V1013I	SPINK5_ENST00000359874.3_Missense_Mutation_p.V1043I	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1013	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1013L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAAAGCCTGTCTGTGGTGA	0.413																																																	1	Substitution - Missense(1)	ovary(1)	5											246.0	234.0	238.0					5																	147510894		1970	4164	6134	147491087	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3037G>A	5.37:g.147510894G>A	ENSP00000256084:p.Val1013Ile	Somatic		Capture	Illumina HiSeq	Phase_I	147491087	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320355	0.60634	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.80304	-1.36;-1.36	4.69	4.69	0.59074	Proteinase inhibitor I1, Kazal (3);	0.000000	0.64402	D	0.000006	D	0.87736	0.6252	M	0.72118	2.19	0.33339	D	0.569639	D;D	0.89917	1.0;0.999	D;D	0.91635	0.998;0.999	D	0.89203	0.3559	10	0.33940	T	0.23	-15.7605	13.8363	0.63410	0.0:0.0:1.0:0.0	.	1043;1013	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	I	1043;1013	ENSP00000352936:V1043I;ENSP00000256084:V1013I	ENSP00000256084:V1013I	V	+	1	0	SPINK5	147491087	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.484000	0.60271	2.514000	0.84764	0.655000	0.94253	GTC		SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
PDGFRB	5159	hgsc.bcm.edu	37	5	149495377	149495377	+	Silent	SNP	C	C	T	rs183852315	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:149495377C>T	ENST00000261799.4	-	23	3739	c.3270G>A	c.(3268-3270)ccG>ccA	p.P1090P	CSF1R_ENST00000286301.3_5'Flank	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1090					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.P1090P(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCCGAATCCGGCAACTGTT	0.682			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								C|||	3	0.000599042	0.0008	0.0029	5008	,	,		18020	0.0		0.0	False		,,,				2504	0.0							Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	1	Substitution - coding silent(1)	large_intestine(1)	5						C		0,4406		0,0,2203	30.0	33.0	32.0		3270	1.9	0.0	5		32	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDGFRB	NM_002609.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1090/1107	149495377	1,13005	2203	4300	6503	149475570	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3270G>A	5.37:g.149495377C>T		Somatic		Capture	Illumina HiSeq	Phase_I	149475570	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
FAT2	2196	hgsc.bcm.edu	37	5	150923090	150923090	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:150923090G>T	ENST00000261800.5	-	9	7610	c.7598C>A	c.(7597-7599)cCc>cAc	p.P2533H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2533	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.P2533R(1)		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)			CTGGCCATTGGGGTTTATGGA	0.428																																																	1	Substitution - Missense(1)	ovary(1)	5											146.0	149.0	148.0					5																	150923090		2203	4300	6503	150903283	SO:0001583	missense	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.7598C>A	5.37:g.150923090G>T	ENSP00000261800:p.Pro2533His	Somatic		Capture	Illumina HiSeq	Phase_I	150903283	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859779	0.32884	.	.	ENSG00000086570	ENST00000261800	T	0.55234	0.53	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.398004	0.24443	N	0.038491	T	0.56659	0.2000	L	0.52573	1.65	0.22342	N	0.999189	P	0.48089	0.905	P	0.51016	0.656	T	0.54186	-0.8331	10	0.51188	T	0.08	.	12.2297	0.54480	0.0:0.0:0.7116:0.2884	.	2533	Q9NYQ8	FAT2_HUMAN	H	2533	ENSP00000261800:P2533H	ENSP00000261800:P2533H	P	-	2	0	FAT2	150903283	0.876000	0.30132	0.984000	0.44739	0.960000	0.62799	2.692000	0.47018	2.498000	0.84270	0.462000	0.41574	CCC		FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
ITK	3702	hgsc.bcm.edu	37	5	156671390	156671390	+	Missense_Mutation	SNP	C	C	T	rs200331133		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:156671390C>T	ENST00000422843.3	+	13	1503	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	ACGCACCCAGCGGGGACTTTT	0.577			T	SYK	peripheral T-cell lymphoma								C|||	1	0.000199681	0.0	0.0014	5008	,	,		17969	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0			5						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	90.0	90.0		1351	3.3	1.0	5		90	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ITK	NM_005546.3	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	451/621	156671390	2,13004	2203	4300	6503	156603968	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.1351C>T	5.37:g.156671390C>T	ENSP00000398655:p.Arg451Trp	Somatic		Capture	Illumina HiSeq	Phase_I	156603968	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	20.4	3.985241	0.74474	2.27E-4	1.16E-4	ENSG00000113263	ENST00000422843	T	0.64438	-0.1	6.08	3.32	0.38043	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.102510	0.64402	D	0.000004	T	0.81772	0.4893	M	0.88377	2.95	0.42913	D	0.994263	D	0.89917	1.0	D	0.75484	0.986	D	0.85166	0.0995	10	0.66056	D	0.02	.	16.1251	0.81386	0.4551:0.5449:0.0:0.0	.	451	Q08881	ITK_HUMAN	W	451	ENSP00000398655:R451W	ENSP00000398655:R451W	R	+	1	2	ITK	156603968	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.047000	0.30367	0.435000	0.26365	-0.230000	0.12252	CGG		ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
WWC1	23286	hgsc.bcm.edu	37	5	167894878	167894878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:167894878C>T	ENST00000265293.4	+	22	3686	c.3184C>T	c.(3184-3186)Cag>Tag	p.Q1062*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.Q1068*|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1062	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGGTGAGCTTCAGACAGACAA	0.582																																																	0			5											76.0	73.0	74.0					5																	167894878		2203	4300	6503	167827456	SO:0001587	stop_gained	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3184C>T	5.37:g.167894878C>T	ENSP00000265293:p.Gln1062*	Somatic		Capture	Illumina HiSeq	Phase_I	167827456	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Nonsense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.106421|8.106421	0.98657|0.98657	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038|ENST00000393895;ENST00000524228	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.424159|.	0.24396|.	N|.	0.038885|.	.|T	.|0.61961	.|0.2389	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69335	.|-0.5172	.|3	0.05525|.	T|.	0.97|.	.|.	11.8777|11.8777	0.52556|0.52556	0.2213:0.7787:0.0:0.0|0.2213:0.7787:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1062;1068;393|1028;837	.|.	ENSP00000265293:Q1062X|.	Q|S	+|+	1|2	0|0	WWC1|WWC1	167827456|167827456	0.986000|0.986000	0.35501|0.35501	0.625000|0.625000	0.29200|0.29200	0.967000|0.967000	0.64934|0.64934	2.791000|2.791000	0.47829|0.47829	2.479000|2.479000	0.83701|0.83701	0.591000|0.591000	0.81541|0.81541	CAG|TCA		WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
NSD1	64324	hgsc.bcm.edu	37	5	176721629	176721629	+	Silent	SNP	T	T	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:176721629T>C	ENST00000439151.2	+	23	7305	c.7260T>C	c.(7258-7260)ccT>ccC	p.P2420P	NSD1_ENST00000347982.4_Silent_p.P2151P|NSD1_ENST00000354179.4_Silent_p.P2151P|NSD1_ENST00000361032.4_Silent_p.P2317P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2420	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GACTCCCACCTCCTGAGAAAG	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			5											72.0	82.0	79.0					5																	176721629		2203	4300	6503	176654235	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7260T>C	5.37:g.176721629T>C		Somatic		Capture	Illumina HiSeq	Phase_I	176654235	Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																				NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
DBN1	1627	hgsc.bcm.edu	37	5	176887554	176887554	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr5:176887554C>A	ENST00000309007.5	-	10	1053	c.834G>T	c.(832-834)gaG>gaT	p.E278D	DBN1_ENST00000512501.1_Missense_Mutation_p.E10D|DBN1_ENST00000393563.4_Missense_Mutation_p.E10D|DBN1_ENST00000393565.1_Missense_Mutation_p.E278D|DBN1_ENST00000292385.5_Missense_Mutation_p.E280D	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	278			E -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGCTGCTGCCTCCTGAGGGC	0.617																																																	0			5											158.0	149.0	152.0					5																	176887554		2203	4300	6503	176820160	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.834G>T	5.37:g.176887554C>A	ENSP00000308532:p.Glu278Asp	Somatic		Capture	Illumina HiSeq	Phase_I	176820160	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855758	0.71834	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563;ENST00000477391	T;T;T;T;T	0.62788	1.06;1.06;1.55;0.0;0.47	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	M	0.68952	2.095	0.43965	D	0.996641	D;D;D;D	0.76494	0.996;0.999;0.997;0.998	D;D;D;D	0.77557	0.987;0.99;0.978;0.99	T	0.76293	-0.3012	10	0.72032	D	0.01	-12.6217	9.9236	0.41478	0.0:0.905:0.0:0.095	.	228;278;278;280	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	D	278;280;278;10;10;277	ENSP00000308532:E278D;ENSP00000292385:E280D;ENSP00000377195:E278D;ENSP00000423208:E10D;ENSP00000377193:E10D	ENSP00000292385:E280D	E	-	3	2	DBN1	176820160	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.998000	0.49465	2.368000	0.80403	0.561000	0.74099	GAG		DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881	
NAF1	92345	hgsc.bcm.edu	37	4	164061373	164061373	+	Splice_Site	SNP	A	A	C			TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr4:164061373A>C	ENST00000274054.2	-	5	1072		c.e5+1		NAF1_ENST00000422287.2_Splice_Site|NAF1_ENST00000509434.1_Splice_Site	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein						pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TAAAGTACTTACTGTTTTAGT	0.289																																																	0			4											90.0	95.0	93.0					4																	164061373		2202	4293	6495	164280823	SO:0001630	splice_region_variant	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.878+1T>G	4.37:g.164061373A>C		Somatic		Capture	Illumina HiSeq	Phase_I	164280823	D3DP28|E9PAZ2	Splice_Site	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863511	0.51482	.	.	ENSG00000145414	ENST00000509434;ENST00000422287;ENST00000274054	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1134	0.72380	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAF1	164280823	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.991000	0.88244	2.175000	0.68902	0.533000	0.62120	.		NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386	Intron
MUC4	4585	hgsc.bcm.edu	37	3	195508442	195508537	+	In_Frame_Del	DEL	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs568124972|rs545603027|rs200820395|rs535230509|rs200195189|rs574066429|rs201933946|rs374619108|rs200683272|rs76305071|rs568102602|rs553845624|rs566110482|rs146135943|rs201164988|rs71187746|rs141064104|rs199896372|rs368202391|rs62282476|rs541132330|rs150322486|rs201319965|rs148923966|rs537438050|rs549411987|rs531526881|rs540026448|rs534369822|rs80085168|rs202097189|rs201298940|rs549350827|rs113686997|rs201195860|rs543837546	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10468	c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	c.(9913-10011)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagcatccacaggtcacgccacccctcttcatgtcaccagcccttcctcagca>gca	p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D3317E(2)|p.H3325Q(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.574																																																	14	Substitution - Missense(12)|Deletion - In frame(2)	stomach(11)|lung(2)|kidney(1)	3																																								196993316	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	3.37:g.195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3336del	Somatic		Capture	Illumina HiSeq	Phase_I	196993221	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195513800	195513847	+	In_Frame_Del	DEL	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	-	rs200019432|rs200208054|rs199976859|rs201142885|rs202176252|rs202029925|rs200981553	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:195513800_195513847delTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	ENST00000463781.3	-	2	5063_5110	c.4604_4651delTGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCA	c.(4603-4653)atgcctcttcctgtcactagcccttcctcagcatccacaggtgacaccacc>acc	p.MPLPVTSPSSASTGDT1535del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.MPLPVTSPSSASTGDT1535del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.M1535_T1550delMPLPVTSPSSASTGDT(4)|p.M1535I(2)|p.D1549H(1)|p.P1542L(1)|p.T1547S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACC	0.585																																																	9	Substitution - Missense(5)|Deletion - In frame(4)	stomach(4)|kidney(3)|skin(2)	3																																								196998242	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4604_4651delTGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCA	3.37:g.195513800_195513847delTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	ENSP00000417498:p.Met1535_Thr1550del	Somatic		Capture	Illumina HiSeq	Phase_I	196998195	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
TFAM	7019	hgsc.bcm.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0			10											39.0	47.0	44.0					10																	60148570		2195	4296	6491	59818576	SO:0001589	frameshift_variant	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs	Somatic		Capture	Illumina HiSeq	Phase_I	59818576	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	CCDS7253.1																																																																																				TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																																	0			11																																								1575778	SO:0001651	inframe_deletion	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del	Somatic		Capture	Illumina HiSeq	Phase_I	1575749	A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	CCDS31331.1																																																																																				KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325	
RBM25	58517	hgsc.bcm.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																																	0			14																																								72642361	SO:0001589	frameshift_variant	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs	Somatic		Capture	Illumina HiSeq	Phase_I	72642360	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	CCDS32113.1																																																																																				RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																																	0			22																																								28215604	SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del	Somatic		Capture	Illumina HiSeq	Phase_I	28215581	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																				NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
MUC4	4585	hgsc.bcm.edu	37	3	195508442	195508537	+	In_Frame_Del	DEL	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs568124972|rs545603027|rs200820395|rs535230509|rs200195189|rs574066429|rs201933946|rs374619108|rs200683272|rs76305071|rs568102602|rs553845624|rs566110482|rs146135943|rs201164988|rs71187746|rs141064104|rs199896372|rs368202391|rs62282476|rs541132330|rs150322486|rs201319965|rs148923966|rs537438050|rs549411987|rs531526881|rs540026448|rs534369822|rs80085168|rs202097189|rs201298940|rs549350827|rs113686997|rs201195860|rs543837546	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10468	c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	c.(9913-10011)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagcatccacaggtcacgccacccctcttcatgtcaccagcccttcctcagca>gca	p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D3317E(2)|p.H3325Q(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.574																																																	14	Substitution - Missense(12)|Deletion - In frame(2)	stomach(11)|lung(2)|kidney(1)	3																																								196993316	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	3.37:g.195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3336del	Somatic		Capture	Illumina HiSeq	Phase_I	196993221	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195513800	195513847	+	In_Frame_Del	DEL	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	-	rs200019432|rs200208054|rs199976859|rs201142885|rs202176252|rs202029925|rs200981553	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr3:195513800_195513847delTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	ENST00000463781.3	-	2	5063_5110	c.4604_4651delTGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCA	c.(4603-4653)atgcctcttcctgtcactagcccttcctcagcatccacaggtgacaccacc>acc	p.MPLPVTSPSSASTGDT1535del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.MPLPVTSPSSASTGDT1535del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.M1535_T1550delMPLPVTSPSSASTGDT(4)|p.M1535I(2)|p.D1549H(1)|p.P1542L(1)|p.T1547S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACC	0.585																																																	9	Substitution - Missense(5)|Deletion - In frame(4)	stomach(4)|kidney(3)|skin(2)	3																																								196998242	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4604_4651delTGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCA	3.37:g.195513800_195513847delTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	ENSP00000417498:p.Met1535_Thr1550del	Somatic		Capture	Illumina HiSeq	Phase_I	196998195	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
TFAM	7019	hgsc.bcm.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0			10											39.0	47.0	44.0					10																	60148570		2195	4296	6491	59818576	SO:0001589	frameshift_variant	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs	Somatic		Capture	Illumina HiSeq	Phase_I	59818576	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	CCDS7253.1																																																																																				TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																																	0			11																																								1575778	SO:0001651	inframe_deletion	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del	Somatic		Capture	Illumina HiSeq	Phase_I	1575749	A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	CCDS31331.1																																																																																				KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325	
RBM25	58517	hgsc.bcm.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																																	0			14																																								72642361	SO:0001589	frameshift_variant	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs	Somatic		Capture	Illumina HiSeq	Phase_I	72642360	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	CCDS32113.1																																																																																				RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-G5-6235-01A-11D-1733-10	TCGA-G5-6235-10A-01D-1733-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4a584c8-cdab-4cf2-ac96-fd3ace3b9fd8	4f521799-7126-4cc3-a9d9-d254a6d2f0d6	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																																	0			22																																								28215604	SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del	Somatic		Capture	Illumina HiSeq	Phase_I	28215581	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																				NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
