#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_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_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
DIP2C	22982	broad.mit.edu	37	10	412273	412274	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:412273_412274insCA	ENST00000280886.6	-	19	2296_2297	c.2209_2210insTG	c.(2209-2211)gcafs	p.A737fs	DIP2C_ENST00000540204.1_Frame_Shift_Ins_p.A58fs|DIP2C_ENST00000381496.3_Frame_Shift_Ins_p.A630fs	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	737						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A737fs*15(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTCGCAACTGCACACACACAC	0.545																																					p.A737fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2210_2211insTG	10						.																																			402274	SO:0001589	frameshift_variant	22982	exon19			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2208_2209dupTG	10.37:g.412282_412283dupCA	ENSP00000280886:p.Ala737fs	Somatic		Capture	Illumina HiSeq	Phase_I	402273	NM_014974	B4DPI5|Q5SS78	Frame_Shift_Ins	INS	ENST00000280886.6	37	CCDS7054.1																																																																																				0.545	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
HPS6	79803	broad.mit.edu	37	10	103826252	103826252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:103826252C>T	ENST00000299238.5	+	1	1106	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	341					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)	p.Q341*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGGCAGTGGGCAGCTGCTGGA	0.612									Hermansky-Pudlak syndrome																												p.Q341X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1021T	10						.						64.0	65.0	65.0					10																	103826252		2203	4300	6503	103816242	SO:0001587	stop_gained	79803	exon1	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1021C>T	10.37:g.103826252C>T	ENSP00000299238:p.Gln341*	Somatic		Capture	Illumina HiSeq	Phase_I	103816242	NM_024747	Q5VV69|Q9H685	Nonsense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809944	0.90707	.	.	ENSG00000166189	ENST00000299238	.	.	.	5.17	5.17	0.71159	.	0.461733	0.20796	N	0.085531	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-3.8027	13.0369	0.58877	0.2583:0.7417:0.0:0.0	.	.	.	.	X	341	.	ENSP00000299238:Q341X	Q	+	1	0	HPS6	103816242	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	1.344000	0.33941	2.681000	0.91329	0.561000	0.74099	CAG		0.612	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747	
PCGF6	84108	broad.mit.edu	37	10	105110543	105110543	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:105110543T>G	ENST00000369847.3	-	1	348	c.281A>C	c.(280-282)gAa>gCa	p.E94A	PCGF6_ENST00000337211.4_Missense_Mutation_p.E94A|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	94	Glu-rich.				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.E94A(2)		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)		ctcctcctcttcttcctcctc	0.642																																					p.E94A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A281C	10						.						15.0	14.0	14.0					10																	105110543		2195	4298	6493	105100533	SO:0001583	missense	84108	exon1			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.281A>C	10.37:g.105110543T>G	ENSP00000358862:p.Glu94Ala	Somatic		Capture	Illumina HiSeq	Phase_I	105100533	NM_032154	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467951	0.26335	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.35421	1.35;1.31	4.54	4.54	0.55810	.	0.415183	0.22337	N	0.061399	T	0.20700	0.0498	N	0.19112	0.55	0.31787	N	0.630136	B;B	0.31817	0.341;0.139	B;B	0.32864	0.154;0.027	T	0.17379	-1.0371	10	0.21014	T	0.42	.	6.7061	0.23252	0.0:0.1044:0.0:0.8956	.	94;94	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	A	94	ENSP00000358862:E94A;ENSP00000338845:E94A	ENSP00000338845:E94A	E	-	2	0	PCGF6	105100533	0.993000	0.37304	0.976000	0.42696	0.117000	0.20001	3.380000	0.52448	1.900000	0.55004	0.402000	0.26972	GAA		0.642	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154	
CELF2	10659	broad.mit.edu	37	10	11370987	11370987	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:11370987C>T	ENST00000379261.4	+	13	1590	c.1498C>T	c.(1498-1500)Cgt>Tgt	p.R500C	CELF2_ENST00000609692.1_Missense_Mutation_p.R432C|CELF2_ENST00000315874.4_Missense_Mutation_p.R482C|CELF2_ENST00000450189.1_Missense_Mutation_p.R513C|CELF2_ENST00000354897.3_Missense_Mutation_p.R494C|CELF2_ENST00000416382.2_Missense_Mutation_p.R500C|CELF2_ENST00000608830.1_Missense_Mutation_p.R480C|CELF2_ENST00000427450.1_Missense_Mutation_p.R482C|CELF2_ENST00000354440.2_Missense_Mutation_p.R482C|CELF2_ENST00000417956.2_Missense_Mutation_p.R480C|CELF2_ENST00000399850.3_Missense_Mutation_p.R482C|CELF2_ENST00000542579.1_Missense_Mutation_p.R513C|CELF2_ENST00000537122.1_Missense_Mutation_p.R395C	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	500	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R501C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GCAGCTGAAGCGTTCCAAAAA	0.488																																					p.R500C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1498T	10						.						89.0	89.0	89.0					10																	11370987		2044	4231	6275	11410993	SO:0001583	missense	10659	exon13			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1498C>T	10.37:g.11370987C>T	ENSP00000368563:p.Arg500Cys	Somatic		Capture	Illumina HiSeq	Phase_I	11410993	NM_001025077	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858453	0.71834	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3;3.3;3.3;3.3;3.3;3.3	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.047759	0.85682	D	0.000000	T	0.33847	0.0877	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;0.999;0.998	D;D;D;P;D;D	0.73708	0.927;0.927;0.981;0.823;0.954;0.927	T	0.12502	-1.0545	10	0.87932	D	0	-9.3016	20.2983	0.98569	0.0:1.0:0.0:0.0	.	488;506;501;513;513;500	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	C	500;500;513;513;482;480;482;482;490;482;395;306	ENSP00000368563:R500C;ENSP00000406451:R500C;ENSP00000389951:R513C;ENSP00000443926:R513C;ENSP00000382743:R482C;ENSP00000404834:R480C;ENSP00000315328:R482C;ENSP00000346426:R482C;ENSP00000388530:R482C;ENSP00000438884:R395C	ENSP00000315328:R482C	R	+	1	0	CELF2	11410993	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	CGT		0.488	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
PDCD11	22984	broad.mit.edu	37	10	105203722	105203722	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:105203722A>G	ENST00000369797.3	+	34	5269	c.5175A>G	c.(5173-5175)aaA>aaG	p.K1725K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1725					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.K1725K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGCAGGAGAAAGCTGTGTGGA	0.597																																					p.K1725K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5175G	10						.						87.0	85.0	86.0					10																	105203722		2203	4300	6503	105193712	SO:0001819	synonymous_variant	22984	exon34			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5175A>G	10.37:g.105203722A>G		Somatic		Capture	Illumina HiSeq	Phase_I	105193712	NM_014976	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	CCDS31276.1																																																																																				0.597	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
KIAA1598	57698	broad.mit.edu	37	10	118687304	118687304	+	Splice_Site	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:118687304G>A	ENST00000355371.4	-	11	1608	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	KIAA1598_ENST00000392901.4_Splice_Site_p.R311*|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Splice_Site_p.R371*|KIAA1598_ENST00000260777.10_Splice_Site_p.R371*	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	371					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)		p.R371*(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TGTGCTTACCGGATAGGATTG	0.478																																					p.R371X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1111T	10						.						155.0	152.0	153.0					10																	118687304		2203	4300	6503	118677294	SO:0001630	splice_region_variant	57698	exon11			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1112+1C>T	10.37:g.118687304G>A		Somatic		Capture	Illumina HiSeq	Phase_I	118677294	NM_018330	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Nonsense_Mutation	SNP	ENST00000355371.4	37	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	G	37	6.186570	0.97357	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	.	.	.	5.46	3.5	0.40072	.	0.263669	0.35378	N	0.003250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9842	11.7655	0.51928	0.0:0.0:0.653:0.347	.	.	.	.	X	371;371;371;311	.	ENSP00000260777:R371X	R	-	1	2	KIAA1598	118677294	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.766000	0.38491	0.678000	0.31325	0.655000	0.94253	CGA		0.478	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330	Nonsense_Mutation
LARP4B	23185	broad.mit.edu	37	10	858909	858909	+	Missense_Mutation	SNP	C	C	T	rs199947494	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:858909C>T	ENST00000316157.3	-	17	2214	c.2174G>A	c.(2173-2175)cGt>cAt	p.R725H	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	725					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.R725H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCGGCTGAGACGCTTCCCCAT	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		12647	0.001		0.0	False		,,,				2504	0.0				p.R725H												LARP5,central_nervous_system,brain,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G2174A	10						.						31.0	35.0	34.0					10																	858909		2202	4299	6501	848909	SO:0001583	missense	23185	exon17			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.2174G>A	10.37:g.858909C>T	ENSP00000326128:p.Arg725His	Somatic		Capture	Illumina HiSeq	Phase_I	848909	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436871	0.43224	.	.	ENSG00000107929	ENST00000316157	T	0.38560	1.13	6.07	5.17	0.71159	.	0.231260	0.52532	N	0.000065	T	0.34978	0.0916	L	0.34521	1.04	0.45946	D	0.998776	B	0.19817	0.039	B	0.14023	0.01	T	0.09058	-1.0692	10	0.49607	T	0.09	-8.2977	15.3906	0.74741	0.0:0.9336:0.0:0.0664	.	725	Q92615	LAR4B_HUMAN	H	725	ENSP00000326128:R725H	ENSP00000326128:R725H	R	-	2	0	LARP4B	848909	1.000000	0.71417	0.974000	0.42286	0.941000	0.58515	2.572000	0.45999	1.578000	0.49821	0.655000	0.94253	CGT		0.667	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
FAM208B	54906	broad.mit.edu	37	10	5788197	5788197	+	Missense_Mutation	SNP	C	C	T	rs200256131	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:5788197C>T	ENST00000328090.5	+	15	3438	c.2813C>T	c.(2812-2814)tCg>tTg	p.S938L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	938								p.S938L(1)									CTTGTGCTTTCGGGTATTGGA	0.383													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18548	0.0		0.0	False		,,,				2504	0.001				p.S938L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2813T	10						.	C	LEU/SER	15,3697		0,15,1841	128.0	130.0	129.0		2813	4.7	0.4	10		129	0,8206		0,0,4103	yes	missense	FAM208B	NM_017782.4	145	0,15,5944	TT,TC,CC		0.0,0.4041,0.1259	probably-damaging	938/2431	5788197	15,11903	1856	4103	5959	5828203	SO:0001583	missense	54906	exon15			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2813C>T	10.37:g.5788197C>T	ENSP00000328426:p.Ser938Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5828203	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031388	0.54790	0.004041	0.0	ENSG00000108021	ENST00000328090	D	0.98474	-4.95	5.6	4.7	0.59300	.	0.128560	0.36134	N	0.002779	D	0.98160	0.9392	M	0.67953	2.075	0.30922	N	0.727919	D	0.71674	0.998	P	0.60173	0.87	D	0.97001	0.9729	10	0.87932	D	0	.	10.4381	0.44448	0.0:0.9104:0.0:0.0896	.	938	Q5VWN6	F208B_HUMAN	L	938	ENSP00000328426:S938L	ENSP00000328426:S938L	S	+	2	0	C10orf18	5828203	0.141000	0.22595	0.432000	0.26747	0.211000	0.24417	3.514000	0.53422	1.344000	0.45657	0.655000	0.94253	TCG		0.383	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
FAM208B	54906	broad.mit.edu	37	10	5790757	5790757	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:5790757C>T	ENST00000328090.5	+	15	5998	c.5373C>T	c.(5371-5373)caC>caT	p.H1791H		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1791								p.H1791H(1)									CCACAGAGCACGTAGAAATTG	0.483																																					p.H1791H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5373T	10						.						72.0	71.0	71.0					10																	5790757		1872	4121	5993	5830763	SO:0001819	synonymous_variant	54906	exon15			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5373C>T	10.37:g.5790757C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5830763	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	CCDS41485.1																																																																																				0.483	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
FBXO18	84893	broad.mit.edu	37	10	5937144	5937144	+	Intron	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:5937144delG	ENST00000362091.4	+	1	116				FBXO18_ENST00000379999.5_Frame_Shift_Del_p.A50fs|FBXO18_ENST00000397269.3_Intron|FBXO18_ENST00000470089.1_Intron	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.A50fs*3(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CACAGAGCACGCTGAAAGTAA	0.517																																					p.A50fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.148delG	10						.						53.0	48.0	50.0					10																	5937144		2203	4300	6503	5977150	SO:0001627	intron_variant	84893	exon2			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1+4835G>-	10.37:g.5937144delG		Somatic		Capture	Illumina HiSeq	Phase_I	5977150	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	ENST00000362091.4	37	CCDS7072.1																																																																																				0.517	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
SFMBT2	57713	broad.mit.edu	37	10	7214564	7214564	+	Missense_Mutation	SNP	C	C	T	rs535158127		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:7214564C>T	ENST00000361972.4	-	18	2134	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D682N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	682					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.D682N(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGTCCGCTGTCGGGGTTGCTT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		16822	0.001		0.0	False		,,,				2504	0.0				p.D682N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2044A	10						.						47.0	56.0	53.0					10																	7214564		2203	4300	6503	7254570	SO:0001583	missense	57713	exon18			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2044G>A	10.37:g.7214564C>T	ENSP00000355109:p.Asp682Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7254570	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709746	0.30322	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.14266	2.52;2.52	5.37	5.37	0.77165	.	0.249901	0.45361	D	0.000371	T	0.07369	0.0186	N	0.14661	0.345	0.80722	D	1	B	0.27700	0.186	B	0.15870	0.014	T	0.35025	-0.9805	10	0.27785	T	0.31	.	9.5621	0.39376	0.0:0.7761:0.1453:0.0786	.	682	Q5VUG0	SMBT2_HUMAN	N	682	ENSP00000355109:D682N;ENSP00000380353:D682N	ENSP00000355109:D682N	D	-	1	0	SFMBT2	7254570	1.000000	0.71417	0.048000	0.18961	0.099000	0.18886	4.164000	0.58190	2.508000	0.84585	0.484000	0.47621	GAC		0.537	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
GATA3	2625	broad.mit.edu	37	10	8100452	8100452	+	Frame_Shift_Del	DEL	G	G	-	rs200317918	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:8100452delG	ENST00000346208.3	+	3	881	c.426delG	c.(424-426)tcgfs	p.S142fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.S142fs			P23771	GATA3_HUMAN	GATA binding protein 3	142	Poly-Ser.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.G144fs*51(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCTCCTTGTCGGGGGGCCACG	0.726			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																														p.S142fs			Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.426delG	10						.						37.0	48.0	44.0					10																	8100452		2203	4300	6503	8140458	SO:0001589	frameshift_variant	2625	exon3			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.426delG	10.37:g.8100452delG	ENSP00000341619:p.Ser142fs	Somatic		Capture	Illumina HiSeq	Phase_I	8140458	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	ENST00000346208.3	37	CCDS7083.1																																																																																				0.726	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	
GATA3	2625	broad.mit.edu	37	10	8106004	8106004	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:8106004G>A	ENST00000346208.3	+	4	1279	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000379328.3_Missense_Mutation_p.R276Q			P23771	GATA3_HUMAN	GATA binding protein 3	275					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.R276Q(3)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACTGTGGCGGCGAGATGGC	0.557			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																														p.R275Q			Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.G824A	10	GRCh37	CM051043	GATA3	M		.						154.0	115.0	129.0					10																	8106004		2203	4300	6503	8146010	SO:0001583	missense	2625	exon4			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.824G>A	10.37:g.8106004G>A	ENSP00000341619:p.Arg275Gln	Somatic		Capture	Illumina HiSeq	Phase_I	8146010	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	36	5.838627	0.97009	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99894	-7.58;-7.58	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99937	0.9972	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.95960	0.8961	10	0.87932	D	0	-24.3204	19.165	0.93553	0.0:0.0:1.0:0.0	.	275;276	P23771;P23771-2	GATA3_HUMAN;.	Q	276;275	ENSP00000368632:R276Q;ENSP00000341619:R275Q	ENSP00000341619:R275Q	R	+	2	0	GATA3	8146010	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	9.869000	0.99810	2.519000	0.84933	0.655000	0.94253	CGG		0.557	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	
SPAG6	9576	broad.mit.edu	37	10	22678111	22678111	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:22678111C>T	ENST00000376624.3	+	7	1017	c.875C>T	c.(874-876)gCa>gTa	p.A292V	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.A267V|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.A368V|SPAG6_ENST00000313311.6_Missense_Mutation_p.A292V	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	292					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.A292V(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTAGTTAACGCAGGAGGGGTT	0.478																																					p.A292V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	10						.						151.0	129.0	136.0					10																	22678111		2203	4300	6503	22718117	SO:0001583	missense	9576	exon7			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.875C>T	10.37:g.22678111C>T	ENSP00000365811:p.Ala292Val	Somatic		Capture	Illumina HiSeq	Phase_I	22718117	NM_012443	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299547	0.40694	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.74	2.87	0.33458	Armadillo-like helical (1);Armadillo-type fold (1);	0.321273	0.36932	N	0.002339	T	0.60753	0.2293	L	0.56199	1.76	0.09310	N	1	B;B;B;B	0.22604	0.003;0.072;0.002;0.006	B;B;B;B	0.30105	0.013;0.111;0.012;0.013	T	0.55872	-0.8072	10	0.56958	D	0.05	-0.7115	8.6514	0.34038	0.0:0.7257:0.136:0.1383	.	267;368;292;292	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	V	292;368;267;292	ENSP00000365811:A292V;ENSP00000365788:A368V;ENSP00000441325:A267V;ENSP00000323599:A292V	ENSP00000323599:A292V	A	+	2	0	SPAG6	22718117	0.368000	0.25031	0.001000	0.08648	0.986000	0.74619	3.014000	0.49590	0.341000	0.23771	0.650000	0.86243	GCA		0.478	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		
ARHGAP21	57584	broad.mit.edu	37	10	24908931	24908931	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:24908931C>T	ENST00000396432.2	-	9	2379	c.1893G>A	c.(1891-1893)acG>acA	p.T631T	ARHGAP21_ENST00000320481.6_Silent_p.T418T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	630					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)	p.T630T(1)		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						TTGTGACATGCGTGGAAGGAG	0.413																																					p.T631T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1893A	10						.						107.0	102.0	104.0					10																	24908931		2203	4300	6503	24948937	SO:0001819	synonymous_variant	57584	exon9			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.1893G>A	10.37:g.24908931C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24948937	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	CCDS7144.2																																																																																				0.413	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
RET	5979	broad.mit.edu	37	10	43596063	43596063	+	Missense_Mutation	SNP	G	G	A	rs570176656	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:43596063G>A	ENST00000355710.3	+	2	462	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RET_ENST00000340058.5_Missense_Mutation_p.R77H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	77			R -> C (in HSCR1). {ECO:0000269|PubMed:10618407}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R77H(1)|p.R77L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGCACGTACCGCACACGGCTG	0.642		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				G|||	2	0.000399361	0.0	0.0	5008	,	,		13227	0.002		0.0	False		,,,				2504	0.0				p.R77H	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G230A	10						.						65.0	54.0	57.0					10																	43596063		2203	4300	6503	42916069	SO:0001583	missense	5979	exon2	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.230G>A	10.37:g.43596063G>A	ENSP00000347942:p.Arg77His	Somatic		Capture	Illumina HiSeq	Phase_I	42916069	NM_020975	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	8.139	0.784732	0.16189	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79845	-1.19;-1.31	5.51	3.67	0.42095	.	0.143108	0.47455	D	0.000222	T	0.64305	0.2586	L	0.35414	1.06	0.09310	N	0.999994	B;B	0.32324	0.364;0.273	B;B	0.17722	0.019;0.012	T	0.52041	-0.8628	10	0.30854	T	0.27	.	6.7887	0.23687	0.1475:0.0:0.7108:0.1417	.	77;77	P07949;P07949-2	RET_HUMAN;.	H	77	ENSP00000347942:R77H;ENSP00000344798:R77H	ENSP00000344798:R77H	R	+	2	0	RET	42916069	0.408000	0.25360	0.121000	0.21740	0.008000	0.06430	2.247000	0.43151	0.716000	0.32124	-0.137000	0.14449	CGC		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
VSTM4	196740	broad.mit.edu	37	10	50285294	50285294	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:50285294G>T	ENST00000332853.4	-	4	627	c.604C>A	c.(604-606)Cag>Aag	p.Q202K		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q202K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AACACAGACTGCCAGACGATG	0.522																																					p.Q202K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C604A	10						.						136.0	107.0	116.0					10																	50285294		2203	4300	6503	49955300	SO:0001583	missense	196740	exon4			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.604C>A	10.37:g.50285294G>T	ENSP00000331062:p.Gln202Lys	Somatic		Capture	Illumina HiSeq	Phase_I	49955300	NM_001031746	B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545949	0.86022	.	.	ENSG00000165633	ENST00000332853	T	0.15487	2.42	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.32530	0.975	0.80722	D	1	D	0.57899	0.981	D	0.65010	0.931	T	0.00475	-1.1717	10	0.49607	T	0.09	-29.353	16.2124	0.82170	0.0:0.0:1.0:0.0	.	202	Q8IW00	VSTM4_HUMAN	K	202	ENSP00000331062:Q202K	ENSP00000331062:Q202K	Q	-	1	0	VSTM4	49955300	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.379000	0.66196	2.814000	0.96858	0.655000	0.94253	CAG		0.522	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	
SLC18A3	6572	broad.mit.edu	37	10	50820290	50820290	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:50820290C>T	ENST00000374115.3	+	1	1944	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	502					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.R502C(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCTGCGTGAGCGTCCTGTGTC	0.652																																					p.R502C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1504T	10						.						58.0	62.0	61.0					10																	50820290		2203	4299	6502	50490296	SO:0001583	missense	6572	exon1			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1504C>T	10.37:g.50820290C>T	ENSP00000363229:p.Arg502Cys	Somatic		Capture	Illumina HiSeq	Phase_I	50490296	NM_003055	B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365254	0.61513	.	.	ENSG00000187714	ENST00000374115	T	0.05258	3.47	3.82	3.82	0.43975	.	0.132798	0.48286	U	0.000188	T	0.20333	0.0489	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.64595	0.927	T	0.01033	-1.1474	10	0.41790	T	0.15	-4.5575	13.6629	0.62378	0.0:1.0:0.0:0.0	.	502	Q16572	VACHT_HUMAN	C	502	ENSP00000363229:R502C	ENSP00000363229:R502C	R	+	1	0	SLC18A3	50490296	1.000000	0.71417	0.981000	0.43875	0.147000	0.21601	2.920000	0.48844	1.966000	0.57179	0.555000	0.69702	CGT		0.652	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
DKK1	22943	broad.mit.edu	37	10	54074731	54074731	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:54074731G>A	ENST00000373970.3	+	2	431	c.292G>A	c.(292-294)Gct>Act	p.A98T	DKK1_ENST00000467359.1_3'UTR|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	98	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)	p.A98T(1)		kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGAGTACTGCGCTAGTCCCAC	0.657											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A98T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	10						.																																			53744737	SO:0001583	missense	22943	exon2				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.292G>A	10.37:g.54074731G>A	ENSP00000363081:p.Ala98Thr	Somatic	997	Capture	Illumina HiSeq	Phase_I	53744737	NM_012242	B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847557	0.32606	.	.	ENSG00000107984	ENST00000373970	T	0.42900	0.96	5.63	1.3	0.21679	Dickkopf, N-terminal cysteine-rich (1);	0.501319	0.23328	N	0.049367	T	0.31702	0.0805	L	0.54323	1.7	0.09310	N	0.999998	P	0.36874	0.572	B	0.32677	0.15	T	0.13282	-1.0515	10	0.23891	T	0.37	-10.2949	9.7677	0.40570	0.0:0.2155:0.2888:0.4957	.	98	O94907	DKK1_HUMAN	T	98	ENSP00000363081:A98T	ENSP00000363081:A98T	A	+	1	0	DKK1	53744737	0.001000	0.12720	0.049000	0.19019	0.968000	0.65278	0.030000	0.13688	-0.032000	0.13758	0.650000	0.86243	GCT		0.657	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1		
BICC1	80114	broad.mit.edu	37	10	60588555	60588555	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:60588555G>A	ENST00000373886.3	+	21	2833	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	943			S -> P (in dbSNP:rs4948550).		multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S943S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTTTGAATCGCCAAATGCAC	0.468																																					p.S943S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2829A	10						.						91.0	83.0	86.0					10																	60588555		2203	4300	6503	60258561	SO:0001819	synonymous_variant	80114	exon21			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2829G>A	10.37:g.60588555G>A		Somatic		Capture	Illumina HiSeq	Phase_I	60258561	NM_001080512		Silent	SNP	ENST00000373886.3	37	CCDS31206.1																																																																																				0.468	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	
CCAR1	55749	broad.mit.edu	37	10	70516084	70516084	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:70516084T>C	ENST00000265872.6	+	14	1799	c.1680T>C	c.(1678-1680)cgT>cgC	p.R560R	MIR1254-1_ENST00000408257.1_RNA|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000535016.1_Silent_p.R545R|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Silent_p.R545R	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	560					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.R560R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ACAAGGGGCGTACAGTTCCAG	0.493																																					p.R560R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1680C	10						.						143.0	140.0	141.0					10																	70516084		2203	4300	6503	70186090	SO:0001819	synonymous_variant	55749	exon14			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1680T>C	10.37:g.70516084T>C		Somatic		Capture	Illumina HiSeq	Phase_I	70186090	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	CCDS7282.1																																																																																				0.493	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
H2AFY2	55506	broad.mit.edu	37	10	71851665	71851665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:71851665delG	ENST00000373255.4	+	4	696	c.432delG	c.(430-432)aagfs	p.K144fs		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	144	Lys-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)	p.K147fs*53(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAGGCAAGAAGGGGGGGAAGA	0.592																																					p.K144fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.432delG	10						.						69.0	65.0	67.0					10																	71851665		2203	4300	6503	71521671	SO:0001589	frameshift_variant	55506	exon4			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.432delG	10.37:g.71851665delG	ENSP00000362352:p.Lys144fs	Somatic		Capture	Illumina HiSeq	Phase_I	71521671	NM_018649	Q5SQT2	Frame_Shift_Del	DEL	ENST00000373255.4	37	CCDS7296.1																																																																																				0.592	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649	
ANXA7	310	broad.mit.edu	37	10	75139679	75139679	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:75139679G>A	ENST00000372921.5	-	11	1179	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ANXA7_ENST00000535178.1_Missense_Mutation_p.R245C|RP11-537A6.9_ENST00000427492.1_RNA	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	397					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.R397C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GAAAACTCACGGCTCACACTG	0.338																																					p.R375C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123T	10						.						164.0	175.0	171.0					10																	75139679		2203	4300	6503	74809685	SO:0001583	missense	310	exon11			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.1123C>T	10.37:g.75139679G>A	ENSP00000362012:p.Arg375Cys	Somatic		Capture	Illumina HiSeq	Phase_I	74809685	NM_001156	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807160	0.70797	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.03441	3.93;3.93;3.93	5.65	4.73	0.59995	Annexin repeat, conserved site (1);	0.159895	0.43416	D	0.000562	T	0.19886	0.0478	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.74023	0.982;0.953;0.969;0.982	T	0.00899	-1.1522	10	0.87932	D	0	.	12.1681	0.54141	0.0:0.0:0.8292:0.1708	.	375;302;375;397	Q53HM8;B4DWU2;P20073-2;P20073	.;.;.;ANXA7_HUMAN	C	375;397;245	ENSP00000362012:R375C;ENSP00000362010:R397C;ENSP00000442864:R245C	ENSP00000362010:R397C	R	-	1	0	ANXA7	74809685	0.993000	0.37304	0.423000	0.26634	0.980000	0.70556	2.090000	0.41682	1.483000	0.48342	0.655000	0.94253	CGT		0.338	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156	
WAPAL	23063	broad.mit.edu	37	10	88206024	88206024	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:88206024C>A	ENST00000298767.5	-	16	3769	c.3297G>T	c.(3295-3297)gaG>gaT	p.E1099D	WAPAL_ENST00000484070.1_5'Flank|WAPAL_ENST00000263070.7_Missense_Mutation_p.E311D|WAPAL_ENST00000372075.1_Missense_Mutation_p.E311D	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1099	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.E1099D(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTTCTTCATCCTCCTCCTCCT	0.338																																					p.E1099D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3297T	10						.						173.0	174.0	174.0					10																	88206024		2203	4300	6503	88196004	SO:0001583	missense	23063	exon16			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3297G>T	10.37:g.88206024C>A	ENSP00000298767:p.Glu1099Asp	Somatic		Capture	Illumina HiSeq	Phase_I	88196004	NM_015045	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	5.849	0.340827	0.11069	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T;T;T	0.41400	1.0;1.0;1.0	5.51	-11.0	0.00169	Armadillo-type fold (1);	0.343016	0.33792	N	0.004559	T	0.15003	0.0362	N	0.19112	0.55	0.22728	N	0.998803	B;B;B;B	0.12013	0.0;0.005;0.0;0.001	B;B;B;B	0.09377	0.001;0.004;0.0;0.003	T	0.19224	-1.0312	10	0.19147	T	0.46	.	4.1312	0.10149	0.1192:0.4057:0.2824:0.1927	.	1093;1137;1099;1136	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	D	1184;1099;1184;311;311	ENSP00000298767:E1099D;ENSP00000361145:E311D;ENSP00000263070:E311D	ENSP00000263070:E311D	E	-	3	2	WAPAL	88196004	0.000000	0.05858	0.022000	0.16811	0.995000	0.86356	-5.965000	0.00088	-4.635000	0.00038	-0.266000	0.10368	GAG		0.338	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045	
TNKS2	80351	broad.mit.edu	37	10	93601946	93601946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:93601946delA	ENST00000371627.4	+	16	2236	c.1857delA	c.(1855-1857)acafs	p.T619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAGACCCTACAAAAAAAAACA	0.393																																					p.T619fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1857delA	10						.						66.0	69.0	68.0					10																	93601946		2203	4300	6503	93591926	SO:0001589	frameshift_variant	80351	exon16			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1857delA	10.37:g.93601946delA	ENSP00000360689:p.Thr619fs	Somatic		Capture	Illumina HiSeq	Phase_I	93591926	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Del	DEL	ENST00000371627.4	37	CCDS7417.1																																																																																				0.393	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
CYP26A1	1592	broad.mit.edu	37	10	94834593	94834593	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:94834593G>A	ENST00000224356.4	+	3	517	c.472G>A	c.(472-474)Gag>Aag	p.E158K	CYP26A1_ENST00000371531.1_Missense_Mutation_p.E89K|CYP26A1_ENST00000394139.1_Missense_Mutation_p.E89K	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	158					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.E89K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	GGTGATCACCGAGGAAGTGGG	0.647																																					p.E89K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	10						.						34.0	36.0	35.0					10																	94834593		2203	4300	6503	94824583	SO:0001583	missense	1592	exon3			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.472G>A	10.37:g.94834593G>A	ENSP00000224356:p.Glu158Lys	Somatic		Capture	Illumina HiSeq	Phase_I	94824583	NM_057157	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	3.843	-0.033398	0.07543	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.70631	-0.5;-0.5;-0.5	5.03	5.03	0.67393	.	0.158233	0.53938	D	0.000042	T	0.62048	0.2396	L	0.41710	1.295	0.39217	D	0.963439	B;B	0.24823	0.112;0.069	B;B	0.25884	0.064;0.041	T	0.59080	-0.7521	10	0.10111	T	0.7	-20.788	18.1454	0.89653	0.0:0.0:1.0:0.0	.	89;158	B3KNI4;O43174	.;CP26A_HUMAN	K	89;158;89	ENSP00000360586:E89K;ENSP00000224356:E158K;ENSP00000377695:E89K	ENSP00000224356:E158K	E	+	1	0	CYP26A1	94824583	1.000000	0.71417	0.128000	0.21923	0.587000	0.36485	5.196000	0.65136	2.618000	0.88619	0.462000	0.41574	GAG		0.647	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3		
RBP4	5950	broad.mit.edu	37	10	95360240	95360240	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:95360240C>T	ENST00000371467.1	-	4	584	c.265G>A	c.(265-267)Gca>Aca	p.A89T	RBP4_ENST00000371464.3_Missense_Mutation_p.A89T|RBP4_ENST00000371469.2_Missense_Mutation_p.A87T|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	89					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)	p.A89T(1)		large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	ACCATGTCTGCGCACACGTCC	0.577																																					p.A89T	Pancreas(5;160 256 1117 46697 50185)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	10						.						92.0	92.0	92.0					10																	95360240		2203	4300	6503	95350230	SO:0001583	missense	5950	exon4			BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.265G>A	10.37:g.95360240C>T	ENSP00000360522:p.Ala89Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95350230	NM_006744	D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	ENST00000371467.1	37	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260183	0.95368	.	.	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	T;T	0.07216	3.21;3.21	5.91	5.01	0.66863	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.045218	0.85682	N	0.000000	T	0.32406	0.0828	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16247	-1.0409	10	0.72032	D	0.01	-10.7996	14.9847	0.71339	0.0:0.932:0.0:0.068	.	89	P02753	RET4_HUMAN	T	89;87;89;87	ENSP00000360519:A89T;ENSP00000360522:A89T	ENSP00000360518:A87T	A	-	1	0	RBP4	95350230	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	7.786000	0.85741	1.530000	0.49136	0.485000	0.47835	GCA		0.577	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744	
FRA10AC1	118924	broad.mit.edu	37	10	95452420	95452420	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:95452420G>A	ENST00000359204.4	-	6	560	c.363C>T	c.(361-363)gaC>gaT	p.D121D	FRA10AC1_ENST00000371430.2_Silent_p.D121D|FRA10AC1_ENST00000536233.1_Silent_p.D121D|FRA10AC1_ENST00000394100.2_Silent_p.D121D	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	121						nucleus (GO:0005634)		p.D121D(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TGTCCATTTCGTCCTCCTCAT	0.368																																					p.D121D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C363T	10						.						174.0	143.0	153.0					10																	95452420		2203	4300	6503	95442410	SO:0001819	synonymous_variant	118924	exon6			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.363C>T	10.37:g.95452420G>A		Somatic		Capture	Illumina HiSeq	Phase_I	95442410	NM_145246	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Silent	SNP	ENST00000359204.4	37	CCDS7430.1																																																																																				0.368	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246	
CYP2C19	1557	broad.mit.edu	37	10	96612495	96612495	+	Missense_Mutation	SNP	C	C	T	rs56337013		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:96612495C>T	ENST00000371321.3	+	9	1379	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	433			R -> W (in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013). {ECO:0000269|PubMed:10022751, ECO:0000269|PubMed:9103550}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R433W(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTCAGGAAAACGGATTTGTGT	0.423																																					p.R433W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1297T	10	GRCh37	CM983295	CYP2C19	M	rs56337013	.						119.0	110.0	113.0					10																	96612495		2203	4300	6503	96602485	SO:0001583	missense	1557	exon9			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1297C>T	10.37:g.96612495C>T	ENSP00000360372:p.Arg433Trp	Somatic		Capture	Illumina HiSeq	Phase_I	96602485	NM_000769	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304255	0.40795	.	.	ENSG00000165841	ENST00000371321	D	0.84873	-1.91	3.2	2.28	0.28536	Cytochrome P450, conserved site (1);	0.000000	0.64402	U	0.000004	D	0.93808	0.8020	H	0.97365	3.99	0.35543	D	0.803237	D	0.89917	1.0	D	0.71414	0.973	D	0.94179	0.7430	10	0.87932	D	0	.	8.5069	0.33193	0.0:0.8757:0.0:0.1243	rs56337013	433	P33261	CP2CJ_HUMAN	W	433	ENSP00000360372:R433W	ENSP00000360372:R433W	R	+	1	2	CYP2C19	96602485	0.999000	0.42202	0.703000	0.30354	0.368000	0.29767	0.617000	0.24359	0.450000	0.26774	0.603000	0.83216	CGG		0.423	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769	
CPXM2	119587	broad.mit.edu	37	10	125651029	125651030	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	GC	GC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:125651029_125651030delGC	ENST00000241305.3	-	1	300_301	c.146_147delGC	c.(145-147)cgcfs	p.R49fs	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	49	Pro-rich.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R49fs*54(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGGGCTCCGGGCGCGCGTAGTA	0.738																																					p.49_49del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.146_147del	10						.																																			125641020	SO:0001589	frameshift_variant	119587	exon1			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.146_147delGC	10.37:g.125651033_125651034delGC	ENSP00000241305:p.Arg49fs	Somatic		Capture	Illumina HiSeq	Phase_I	125641019	NM_198148	B4E3Q2	Frame_Shift_Del	DEL	ENST00000241305.3	37	CCDS7637.1																																																																																				0.738	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
MTG1	92170	broad.mit.edu	37	10	135216218	135216218	+	Silent	SNP	C	C	T	rs139526159	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr10:135216218C>T	ENST00000317502.6	+	9	743	c.693C>T	c.(691-693)gtC>gtT	p.V231V	MTG1_ENST00000477902.2_Silent_p.V190V|RP11-108K14.8_ENST00000468317.2_Silent_p.V236V	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	231					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V231V(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		ACCACCTGGTCGGGGAGGAGA	0.582													C|||	30	0.00599042	0.0	0.0	5008	,	,		15724	0.0		0.0	False		,,,				2504	0.0307				p.V231V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	10						.	C		0,4406		0,0,2203	91.0	63.0	73.0		693	-11.3	0.8	10	dbSNP_134	73	2,8598		0,2,4298	no	coding-synonymous	MTG1	NM_138384.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		231/335	135216218	2,13004	2203	4300	6503	135066208	SO:0001819	synonymous_variant	92170	exon9				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.693C>T	10.37:g.135216218C>T		Somatic		Capture	Illumina HiSeq	Phase_I	135066208	NM_138384	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Silent	SNP	ENST00000317502.6	37	CCDS31320.1																																																																																				0.582	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384	
VWA5A	4013	broad.mit.edu	37	11	124007952	124007953	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:124007952_124007953insA	ENST00000456829.2	+	15	2107_2108	c.1856_1857insA	c.(1855-1860)ccattgfs	p.L620fs	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Frame_Shift_Ins_p.L620fs	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	620								p.L620fs*16(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GCTTCTGCCCCATTGAAGATAA	0.421																																					p.P619fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1856_1857insA	11						.																																			123513163	SO:0001589	frameshift_variant	4013	exon14			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1857dupA	11.37:g.124007953_124007953dupA	ENSP00000407726:p.Leu620fs	Somatic		Capture	Illumina HiSeq	Phase_I	123513162	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Frame_Shift_Ins	INS	ENST00000456829.2	37	CCDS8444.1																																																																																				0.421	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
OSBPL5	114879	broad.mit.edu	37	11	3125451	3125452	+	In_Frame_Ins	INS	-	-	GTC			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:3125451_3125452insGTC	ENST00000263650.7	-	10	1374_1375	c.1215_1216insGAC	c.(1213-1218)gactac>gacGACtac	p.405_406insD	OSBPL5_ENST00000348039.5_In_Frame_Ins_p.337_338insD|OSBPL5_ENST00000542243.1_In_Frame_Ins_p.36_37insD|OSBPL5_ENST00000389989.3_In_Frame_Ins_p.337_338insD|OSBPL5_ENST00000525498.1_In_Frame_Ins_p.316_317insD	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	405					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.D405_Y406insD(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGTAGTAGTAGTCGGAGAGCT	0.653																																					p.Y338delinsDY												.	.	1	Insertion - In frame(1)	large_intestine(1)	c.1012_1013insGAC	11						.																																			3082028	SO:0001652	inframe_insertion	114879	exon9			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1213_1215dupGAC	11.37:g.3125452_3125454dupGTC	ENSP00000263650:p.Asp405_Asp405dup	Somatic		Capture	Illumina HiSeq	Phase_I	3082027	NM_001144063	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	In_Frame_Ins	INS	ENST00000263650.7	37	CCDS31344.1																																																																																				0.653	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2		
MUC6	4588	broad.mit.edu	37	11	1015851	1015851	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:1015851C>T	ENST00000421673.2	-	31	7000	c.6950G>A	c.(6949-6951)cGg>cAg	p.R2317Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2317	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.R2317Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCAGGAACCGTGTGGTAGG	0.622																																					p.R2317Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6950A	11						.						91.0	105.0	100.0					11																	1015851		2158	4240	6398	1005851	SO:0001583	missense	4588	exon31			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6950G>A	11.37:g.1015851C>T	ENSP00000406861:p.Arg2317Gln	Somatic		Capture	Illumina HiSeq	Phase_I	1005851	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	1.939	-0.443976	0.04604	.	.	ENSG00000184956	ENST00000421673	T	0.18174	2.23	2.67	-5.33	0.02713	.	.	.	.	.	T	0.05823	0.0152	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39542	-0.9609	9	0.11182	T	0.66	.	0.5824	0.00714	0.2142:0.2367:0.3116:0.2375	.	2317	Q6W4X9	MUC6_HUMAN	Q	2317	ENSP00000406861:R2317Q	ENSP00000406861:R2317Q	R	-	2	0	MUC6	1005851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.825000	0.04433	-2.029000	0.00930	-2.824000	0.00108	CGG		0.622	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
BIRC3	330	broad.mit.edu	37	11	102206786	102206786	+	Missense_Mutation	SNP	G	G	A	rs145025961		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:102206786G>A	ENST00000263464.3	+	7	4164	c.1414G>A	c.(1414-1416)Gga>Aga	p.G472R	BIRC3_ENST00000532808.1_Missense_Mutation_p.G472R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	472	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				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)	p.G472R(1)		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)		ACTAACTGCCGGAATTATTAA	0.303			T	MALT1	MALT																																p.G472R			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1414A	11						.	G	ARG/GLY,ARG/GLY	1,4405		0,1,2202	92.0	96.0	94.0		1414,1414	0.3	0.0	11	dbSNP_134	94	1,8595		0,1,4297	no	missense,missense	BIRC3	NM_001165.4,NM_182962.2	125,125	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	472/605,472/605	102206786	2,13000	2203	4298	6501	101711996	SO:0001583	missense	330	exon8			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.1414G>A	11.37:g.102206786G>A	ENSP00000263464:p.Gly472Arg	Somatic		Capture	Illumina HiSeq	Phase_I	101711996	NM_182962	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.770706	0.00645	2.27E-4	1.16E-4	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.20069	2.1;2.1	5.28	0.32	0.15878	DEATH-like (2);Caspase Recruitment (3);	0.466068	0.27631	N	0.018503	T	0.07863	0.0197	N	0.05124	-0.11	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.40040	-0.9584	10	0.10377	T	0.69	.	9.1626	0.37032	0.7035:0.0:0.2965:0.0	.	472	Q13489	BIRC3_HUMAN	R	472;472;240	ENSP00000263464:G472R;ENSP00000432907:G472R	ENSP00000263464:G472R	G	+	1	0	BIRC3	101711996	0.005000	0.15991	0.001000	0.08648	0.074000	0.17049	0.374000	0.20501	-0.101000	0.12219	-0.294000	0.09567	GGA		0.303	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
MMP12	4321	broad.mit.edu	37	11	102742637	102742637	+	RNA	SNP	G	G	A	rs199918414		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:102742637G>A	ENST00000532855.1	-	0	492							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y132Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TCCGGATTGCGTAGTCAACAT	0.403																																					p.Y132Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C396T	11						.	G		0,3840		0,0,1920	81.0	79.0	80.0		396	-6.4	0.0	11		80	1,8291		0,1,4145	no	coding-synonymous	MMP12	NM_002426.4		0,1,6065	AA,AG,GG		0.0121,0.0,0.0082		132/471	102742637	1,12131	1920	4146	6066	102247847			4321	exon3			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742637G>A		Somatic		Capture	Illumina HiSeq	Phase_I	102247847	NM_002426	B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37																																																																																					0.403	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
AASDHPPT	60496	broad.mit.edu	37	11	105967582	105967582	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:105967582A>T	ENST00000278618.4	+	6	1100	c.878A>T	c.(877-879)gAc>gTc	p.D293V	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	293					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.D293V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TCATTTTGGGACTGTTTTTGC	0.383																																					p.D293V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A878T	11						.						93.0	82.0	86.0					11																	105967582		2201	4298	6499	105472792	SO:0001583	missense	60496	exon6			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.878A>T	11.37:g.105967582A>T	ENSP00000278618:p.Asp293Val	Somatic		Capture	Illumina HiSeq	Phase_I	105472792	NM_015423	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.576214	0.45902	.	.	ENSG00000149313	ENST00000278618	.	.	.	5.5	4.36	0.52297	.	0.248190	0.47093	D	0.000246	T	0.41971	0.1182	N	0.24115	0.695	0.53005	D	0.999961	B	0.25850	0.136	B	0.19391	0.025	T	0.26643	-1.0097	9	0.48119	T	0.1	.	11.1217	0.48293	0.8452:0.1548:0.0:0.0	.	293	Q9NRN7	ADPPT_HUMAN	V	293	.	ENSP00000278618:D293V	D	+	2	0	AASDHPPT	105472792	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.000000	0.57039	0.903000	0.36546	-0.323000	0.08544	GAC		0.383	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423	
BCO2	83875	broad.mit.edu	37	11	112088551	112088551	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:112088551C>A	ENST00000357685.5	+	12	1829	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	BCO2_ENST00000393032.2_Missense_Mutation_p.P531H|BCO2_ENST00000531169.1_Missense_Mutation_p.P531H|BCO2_ENST00000361053.4_Missense_Mutation_p.P492H|BCO2_ENST00000526088.1_Missense_Mutation_p.P525H|BCO2_ENST00000532593.1_Missense_Mutation_p.P460H|BCO2_ENST00000438022.1_Missense_Mutation_p.P531H			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	565					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.P565H(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GCAGAGGTACCTGTGCAGATG	0.408																																					p.P531H	GBM(177;1916 2099 21049 29541 39946)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1592A	11						.						86.0	81.0	83.0					11																	112088551		2201	4297	6498	111593761	SO:0001583	missense	83875	exon12			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1694C>A	11.37:g.112088551C>A	ENSP00000350314:p.Pro565His	Somatic		Capture	Illumina HiSeq	Phase_I	111593761	NM_001037290	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767614	0.90020	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.979;0.997	D	0.97875	1.0288	10	0.44086	T	0.13	-10.6832	19.9882	0.97356	0.0:1.0:0.0:0.0	.	536;492;565	C9JEZ9;E9PBI8;Q9BYV7	.;.;BCDO2_HUMAN	H	565;531;492;531;525;460;531	ENSP00000350314:P565H;ENSP00000376752:P531H;ENSP00000354338:P492H;ENSP00000414843:P531H;ENSP00000436615:P525H;ENSP00000431802:P460H;ENSP00000437053:P531H	ENSP00000350314:P565H	P	+	2	0	BCO2	111593761	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.488000	0.60300	2.824000	0.97209	0.655000	0.94253	CCT		0.408	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290	
SIDT2	51092	broad.mit.edu	37	11	117064626	117064626	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:117064626G>A	ENST00000324225.4	+	24	2800	c.2269G>A	c.(2269-2271)Gtg>Atg	p.V757M	SIDT2_ENST00000431081.2_Missense_Mutation_p.V754M|SIDT2_ENST00000532062.1_Missense_Mutation_p.V49M	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	757					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.V757M(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGCACCTCCGTGGTCTGGGG	0.627																																					p.V757M												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G2269A	11						.						104.0	96.0	99.0					11																	117064626		2201	4296	6497	116569836	SO:0001583	missense	51092	exon24			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2269G>A	11.37:g.117064626G>A	ENSP00000314023:p.Val757Met	Somatic		Capture	Illumina HiSeq	Phase_I	116569836	NM_001040455	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888050	0.91814	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000392956;ENST00000532062	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.993;0.994;0.993;0.996	T	0.62440	-0.6854	10	0.87932	D	0	-21.4982	16.795	0.85599	0.0:0.0:1.0:0.0	.	778;754;757;778	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	M	757;778;754;111;49	ENSP00000314023:V757M;ENSP00000278951:V778M;ENSP00000399635:V754M;ENSP00000432432:V49M	ENSP00000278951:V778M	V	+	1	0	SIDT2	116569836	1.000000	0.71417	0.954000	0.39281	0.921000	0.55340	9.500000	0.97977	2.567000	0.86603	0.561000	0.74099	GTG		0.627	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	
DSCAML1	57453	broad.mit.edu	37	11	117389346	117389346	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:117389346C>T	ENST00000321322.6	-	7	1526	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V239M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	449	Ig-like C2-type 6.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V509M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCATCCCGCACGATGGGCTCA	0.677																																					p.V509M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1525A	11						.						74.0	69.0	70.0					11																	117389346		2201	4296	6497	116894556	SO:0001583	missense	57453	exon7				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1525G>A	11.37:g.117389346C>T	ENSP00000315465:p.Val509Met	Somatic		Capture	Illumina HiSeq	Phase_I	116894556	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715997	0.30413	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.67171	-0.25;-0.25	4.3	-5.25	0.02781	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51500	0.1678	L	0.45422	1.42	0.22401	N	0.999133	B;B	0.27823	0.158;0.19	B;B	0.29598	0.063;0.104	T	0.45585	-0.9251	9	0.45353	T	0.12	.	6.1062	0.20075	0.1015:0.1599:0.5717:0.1668	.	239;449	G3V1B5;Q8TD84	.;DSCL1_HUMAN	M	239;509;216	ENSP00000434335:V239M;ENSP00000315465:V509M	ENSP00000315465:V509M	V	-	1	0	DSCAML1	116894556	0.172000	0.23043	0.598000	0.28837	0.885000	0.51271	0.045000	0.14013	-0.964000	0.03595	-0.266000	0.10368	GTG		0.677	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
DSCAML1	57453	broad.mit.edu	37	11	117651352	117651352	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:117651352G>A	ENST00000321322.6	-	2	401	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	74	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R134W(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGACGTGCCGGATGTGCGGC	0.662																																					p.R134W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C400T	11						.						122.0	124.0	123.0					11																	117651352		2200	4296	6496	117156562	SO:0001583	missense	57453	exon2				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.400C>T	11.37:g.117651352G>A	ENSP00000315465:p.Arg134Trp	Somatic		Capture	Illumina HiSeq	Phase_I	117156562	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245428	0.80024	.	.	ENSG00000177103	ENST00000321322	T	0.39592	1.07	5.1	4.17	0.49024	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62332	0.2419	M	0.73319	2.225	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.66516	-0.5904	9	0.87932	D	0	.	12.9291	0.58276	0.0:0.0:0.7053:0.2947	.	74	Q8TD84	DSCL1_HUMAN	W	134	ENSP00000315465:R134W	ENSP00000315465:R134W	R	-	1	2	DSCAML1	117156562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.461000	0.66699	1.240000	0.43803	0.563000	0.77884	CGG		0.662	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
DDX6	1656	broad.mit.edu	37	11	118633946	118633946	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:118633946T>C	ENST00000526070.2	-	7	1076	c.716A>G	c.(715-717)cAt>cGt	p.H239R	DDX6_ENST00000264018.4_Missense_Mutation_p.H239R|DDX6_ENST00000534980.1_Missense_Mutation_p.H239R	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	239	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.H228R(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CATCTGGACATGATCAACCTT	0.393			T	IGH@	B-NHL																																p.H239R			Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A716G	11						.						191.0	183.0	186.0					11																	118633946		1890	4117	6007	118139156	SO:0001583	missense	1656	exon7			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.716A>G	11.37:g.118633946T>C	ENSP00000433704:p.His239Arg	Somatic		Capture	Illumina HiSeq	Phase_I	118139156	NM_004397	Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020198	0.35606	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.14391	2.51;2.51;2.51	5.99	5.99	0.97316	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.043870	0.85682	D	0.000000	T	0.10594	0.0259	N	0.17631	0.505	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.20638	-1.0269	10	0.22706	T	0.39	.	16.1557	0.81666	0.0:0.0:0.0:1.0	.	239	P26196	DDX6_HUMAN	R	239	ENSP00000264018:H239R;ENSP00000442266:H239R;ENSP00000433704:H239R	ENSP00000264018:H239R	H	-	2	0	DDX6	118139156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.291000	0.77112	0.533000	0.62120	CAT		0.393	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	
VPS11	55823	broad.mit.edu	37	11	118948753	118948753	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:118948753G>A	ENST00000300793.6	+	11	1777	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	580					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.D579N(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGGCCGCAGCGATAGGGAGGC	0.562																																					p.A579A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1737A	11						.						86.0	87.0	86.0					11																	118948753		1957	4152	6109	118453963	SO:0001583	missense	55823	exon10			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1735G>A	11.37:g.118948753G>A	ENSP00000475301:p.Asp579Asn	Somatic		Capture	Illumina HiSeq	Phase_I	118453963	NM_021729	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.562	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729	
SC5D	6309	broad.mit.edu	37	11	121178115	121178115	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:121178115C>T	ENST00000392789.2	+	5	1031	c.794C>T	c.(793-795)cCg>cTg	p.P265L	SC5D_ENST00000534230.1_Intron|SC5D_ENST00000264027.4_Missense_Mutation_p.P265L	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	265				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.P265L(1)									GGGAAGGGACCGCTCAGTTAT	0.408																																					p.P265L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C794T	11						.						80.0	80.0	80.0					11																	121178115		2203	4299	6502	120683325	SO:0001583	missense	6309	exon5				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.794C>T	11.37:g.121178115C>T	ENSP00000376539:p.Pro265Leu	Somatic		Capture	Illumina HiSeq	Phase_I	120683325	NM_006918	O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038204	0.75617	.	.	ENSG00000109929	ENST00000264027;ENST00000392789	D;D	0.83075	-1.68;-1.68	6.02	6.02	0.97574	.	0.060974	0.64402	D	0.000005	D	0.82834	0.5123	M	0.83118	2.625	0.80722	D	1	P	0.47677	0.899	B	0.34722	0.188	T	0.83241	-0.0058	10	0.29301	T	0.29	-17.3	19.3122	0.94192	0.0:1.0:0.0:0.0	.	265	O75845	SC5D_HUMAN	L	265	ENSP00000264027:P265L;ENSP00000376539:P265L	ENSP00000264027:P265L	P	+	2	0	SC5DL	120683325	1.000000	0.71417	0.957000	0.39632	0.117000	0.20001	7.456000	0.80751	2.865000	0.98341	0.655000	0.94253	CCG		0.408	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956	
OR10G9	219870	broad.mit.edu	37	11	123894303	123894303	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:123894303A>T	ENST00000375024.1	+	1	584	c.584A>T	c.(583-585)gAg>gTg	p.E195V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E195V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCAGCCAACGAGATGGTCATC	0.532																																					p.E195V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A584T	11						.						260.0	230.0	240.0					11																	123894303		2201	4299	6500	123399513	SO:0001583	missense	219870	exon1			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.584A>T	11.37:g.123894303A>T	ENSP00000364164:p.Glu195Val	Somatic		Capture	Illumina HiSeq	Phase_I	123399513	NM_001001953		Missense_Mutation	SNP	ENST00000375024.1	37	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.325596	0.24080	.	.	ENSG00000236981	ENST00000375024	T	0.00258	8.41	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000235	T	0.00271	0.0008	M	0.76574	2.34	0.34509	D	0.706851	B	0.14012	0.009	B	0.25140	0.058	T	0.48502	-0.9030	10	0.62326	D	0.03	.	11.3876	0.49796	1.0:0.0:0.0:0.0	.	195	Q8NGN4	O10G9_HUMAN	V	195	ENSP00000364164:E195V	ENSP00000364164:E195V	E	+	2	0	OR10G9	123399513	0.698000	0.27777	0.965000	0.40720	0.296000	0.27459	2.988000	0.49386	1.578000	0.49821	0.533000	0.62120	GAG		0.532	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953	
CDON	50937	broad.mit.edu	37	11	125848260	125848260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:125848260C>T	ENST00000392693.3	-	18	3422	c.3295G>A	c.(3295-3297)Gcc>Acc	p.A1099T	CDON_ENST00000531738.1_Missense_Mutation_p.A476T|CDON_ENST00000263577.7_Missense_Mutation_p.A1099T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1099					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1099T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGAGGCACGGCCGTGTACATT	0.438																																					p.A1099T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3295A	11						.						82.0	64.0	70.0					11																	125848260		2201	4299	6500	125353470	SO:0001583	missense	50937	exon18			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3295G>A	11.37:g.125848260C>T	ENSP00000376458:p.Ala1099Thr	Somatic		Capture	Illumina HiSeq	Phase_I	125353470	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406685	0.62399	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.73047	-0.68;0.0;-0.71	5.82	5.82	0.92795	.	0.000000	0.49305	D	0.000144	T	0.72020	0.3409	M	0.72118	2.19	0.46981	D	0.999274	P;P;B	0.52061	0.917;0.95;0.38	B;P;B	0.46389	0.317;0.515;0.091	T	0.72187	-0.4366	10	0.37606	T	0.19	-25.2725	11.4955	0.50406	0.0:0.8039:0.1268:0.0692	.	1099;1099;476	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	T	1099;476;1099	ENSP00000376458:A1099T;ENSP00000432901:A476T;ENSP00000263577:A1099T	ENSP00000263577:A1099T	A	-	1	0	CDON	125353470	0.999000	0.42202	0.776000	0.31678	0.798000	0.45092	3.744000	0.55112	2.761000	0.94854	0.446000	0.29264	GCC		0.438	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
CDON	50937	broad.mit.edu	37	11	125853840	125853840	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:125853840G>A	ENST00000392693.3	-	16	3049	c.2922C>T	c.(2920-2922)ggC>ggT	p.G974G	CDON_ENST00000531738.1_Silent_p.G351G|CDON_ENST00000263577.7_Silent_p.G974G	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	974					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G974G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGACCATGACGCCCAGCACAC	0.478																																					p.G974G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2922T	11						.						97.0	84.0	88.0					11																	125853840		2201	4299	6500	125359050	SO:0001819	synonymous_variant	50937	exon16			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2922C>T	11.37:g.125853840G>A		Somatic		Capture	Illumina HiSeq	Phase_I	125359050	NM_016952	O14631	Silent	SNP	ENST00000392693.3	37	CCDS58192.1																																																																																				0.478	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
ARHGAP32	9743	broad.mit.edu	37	11	128850591	128850591	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:128850591C>T	ENST00000310343.9	-	17	1790	c.1791G>A	c.(1789-1791)ctG>ctA	p.L597L	ARHGAP32_ENST00000392657.3_Silent_p.L248L|ARHGAP32_ENST00000524655.1_Silent_p.L523L|ARHGAP32_ENST00000527272.1_Silent_p.L248L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	597					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.L597L(1)|p.L248L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCAATGTCAGCAGTTTGGTGG	0.468																																					p.L248L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G744A	11						.						131.0	139.0	136.0					11																	128850591		2201	4297	6498	128355801	SO:0001819	synonymous_variant	9743	exon8			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1791G>A	11.37:g.128850591C>T		Somatic		Capture	Illumina HiSeq	Phase_I	128355801	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1																																																																																				0.468	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
IFITM1	8519	broad.mit.edu	37	11	314196	314196	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:314196C>G	ENST00000408968.3	+	1	344	c.26C>G	c.(25-27)gCt>gGt	p.A9G	IFITM1_ENST00000528780.1_Missense_Mutation_p.A9G|IFITM1_ENST00000328221.5_Missense_Mutation_p.A9G	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	9					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.A9G(1)		large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATGAGGTGGCTGTGCTGGGG	0.582																																					p.A9G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C26G	11						.						77.0	83.0	81.0					11																	314196		2014	4168	6182	304196	SO:0001583	missense	8519	exon1			J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.26C>G	11.37:g.314196C>G	ENSP00000386187:p.Ala9Gly	Somatic		Capture	Illumina HiSeq	Phase_I	304196	NM_003641	Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724567	0.30593	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	T;T;T	0.81163	-1.46;-1.46;-1.46	2.96	-0.428	0.12306	.	38.193900	0.01043	N	0.004332	T	0.79341	0.4429	M	0.79123	2.44	0.09310	N	1	B	0.31174	0.311	B	0.32090	0.14	T	0.54715	-0.8252	10	0.41790	T	0.15	.	3.0815	0.06264	0.0:0.4649:0.2316:0.3035	.	9	P13164	IFM1_HUMAN	G	9;9;9;14	ENSP00000437057:A9G;ENSP00000330825:A9G;ENSP00000386187:A9G	ENSP00000330825:A9G	A	+	2	0	IFITM1	304196	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.212000	0.09319	-0.207000	0.10187	0.205000	0.17691	GCT		0.582	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641	
DEAF1	10522	broad.mit.edu	37	11	678761	678761	+	Silent	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:678761G>T	ENST00000382409.3	-	9	1672	c.1188C>A	c.(1186-1188)ggC>ggA	p.G396G	RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000338675.6_Silent_p.G307G|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	396	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G396G(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TGTCCTGATAGCCGGGGTAGT	0.562																																					p.G396G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1188A	11						.						102.0	96.0	98.0					11																	678761		2203	4300	6503	668761	SO:0001819	synonymous_variant	10522	exon9			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1188C>A	11.37:g.678761G>T		Somatic		Capture	Illumina HiSeq	Phase_I	668761	NM_021008	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000382409.3	37	CCDS31327.1																																																																																				0.562	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008	
OR51A4	401666	broad.mit.edu	37	11	4968125	4968125	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:4968125G>A	ENST00000380373.2	-	1	231	c.206C>T	c.(205-207)gCt>gTt	p.A69V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A69V(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTGACATAGCCAACATGGA	0.418																																					p.A69V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206T	11						.						147.0	134.0	139.0					11																	4968125		2198	4298	6496	4924701	SO:0001583	missense	401666	exon1			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.206C>T	11.37:g.4968125G>A	ENSP00000369731:p.Ala69Val	Somatic		Capture	Illumina HiSeq	Phase_I	4924701	NM_001005329		Missense_Mutation	SNP	ENST00000380373.2	37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454362	0.63290	.	.	ENSG00000205497	ENST00000380373	T	0.03152	4.03	3.56	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19485	0.0468	M	0.89968	3.075	0.19300	N	0.99997	D	0.64830	0.994	D	0.65573	0.936	T	0.02901	-1.1096	9	0.87932	D	0	.	10.0771	0.42366	0.1029:0.0:0.8971:0.0	.	69	Q8NGJ6	O51A4_HUMAN	V	69	ENSP00000369731:A69V	ENSP00000369731:A69V	A	-	2	0	OR51A4	4924701	0.968000	0.33430	0.120000	0.21714	0.967000	0.64934	3.254000	0.51477	0.836000	0.34901	0.567000	0.79289	GCT		0.418	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329	
WEE1	7465	broad.mit.edu	37	11	9598696	9598696	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:9598696G>A	ENST00000450114.2	+	5	1280	c.1027G>A	c.(1027-1029)Gct>Act	p.A343T	snoU13_ENST00000458785.1_RNA|WEE1_ENST00000299613.6_Missense_Mutation_p.A129T	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A343T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TAGGCAGAACGCTTTGAGAGA	0.328																																					p.A129T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G385A	11						.						104.0	104.0	104.0					11																	9598696		2201	4294	6495	9555272	SO:0001583	missense	7465	exon5			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1027G>A	11.37:g.9598696G>A	ENSP00000402084:p.Ala343Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9555272	NM_001143976	B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	36	5.817986	0.96982	.	.	ENSG00000166483	ENST00000450114;ENST00000299613	T;T	0.40225	1.04;1.04	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.76071	0.786;0.987	T	0.69109	-0.5232	10	0.52906	T	0.07	-13.9386	20.0401	0.97581	0.0:0.0:1.0:0.0	.	151;343	Q6MZL0;P30291	.;WEE1_HUMAN	T	343;129	ENSP00000402084:A343T;ENSP00000299613:A129T	ENSP00000299613:A129T	A	+	1	0	WEE1	9555272	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	9.431000	0.97494	2.805000	0.96524	0.655000	0.94253	GCT		0.328	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390	
WEE1	7465	broad.mit.edu	37	11	9610042	9610042	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:9610042G>A	ENST00000450114.2	+	11	2087	c.1834G>A	c.(1834-1836)Gca>Aca	p.A612T	WEE1_ENST00000299613.6_Missense_Mutation_p.A398T	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	612					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A612T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGAGGAAAGAGCACTCTTCAC	0.423																																					p.A398T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1192A	11						.						128.0	122.0	124.0					11																	9610042		2201	4294	6495	9566618	SO:0001583	missense	7465	exon11			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1834G>A	11.37:g.9610042G>A	ENSP00000402084:p.Ala612Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9566618	NM_001143976	B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333503	0.81801	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000527848	T;T;T	0.54071	0.71;0.59;0.83	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.259602	0.37809	N	0.001921	T	0.39545	0.1082	N	0.22421	0.69	0.43313	D	0.995326	P	0.44734	0.842	B	0.40165	0.321	T	0.21999	-1.0229	10	0.09843	T	0.71	-6.607	18.9901	0.92788	0.0:0.0:1.0:0.0	.	612	P30291	WEE1_HUMAN	T	612;398;64	ENSP00000402084:A612T;ENSP00000299613:A398T;ENSP00000432284:A64T	ENSP00000299613:A398T	A	+	1	0	WEE1	9566618	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.227000	0.78070	2.489000	0.83994	0.563000	0.77884	GCA		0.423	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390	
SWAP70	23075	broad.mit.edu	37	11	9771475	9771476	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:9771475_9771476delAG	ENST00000318950.6	+	12	1819_1820	c.1716_1717delAG	c.(1714-1719)gaagagfs	p.EE572fs	SWAP70_ENST00000447399.2_Frame_Shift_Del_p.EE514fs	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	572					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.K576fs*>10(1)|p.E573K(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CAGAACTTGAAGAGAGAGAGAA	0.46																																					p.572_573del												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|NS(1)	c.1716_1717del	11						.																																			9728052	SO:0001589	frameshift_variant	23075	exon12			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1716_1717delAG	11.37:g.9771483_9771484delAG	ENSP00000315630:p.Glu572fs	Somatic		Capture	Illumina HiSeq	Phase_I	9728051	NM_015055	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Frame_Shift_Del	DEL	ENST00000318950.6	37	CCDS31426.1																																																																																				0.460	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055	
USH1C	10083	broad.mit.edu	37	11	17531010	17531010	+	Intron	SNP	G	G	A	rs149510892	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:17531010G>A	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.R636C	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.R636C(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCCCCAGTGCGGAAGGGATGG	0.627													G|||	4	0.000798722	0.0008	0.0029	5008	,	,		13079	0.001		0.0	False		,,,				2504	0.0				p.R636C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1906T	11	GRCh37	CM024264	ush1cpst	M	rs149510892	.	G	,CYS/ARG	19,4381	28.1+/-56.4	0,19,2181	80.0	72.0	75.0		,1906	4.0	0.9	11	dbSNP_134	75	2,8584	2.2+/-6.3	0,2,4291	yes	intron,missense	USH1C	NM_005709.3,NM_153676.3	,180	0,21,6472	AA,AG,GG		0.0233,0.4318,0.1617	,probably-damaging	,636/900	17531010	21,12965	2200	4293	6493	17487586	SO:0001627	intron_variant	10083	exon18			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7483C>T	11.37:g.17531010G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17487586	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	G	12.29	1.894432	0.33442	0.004318	2.33E-4	ENSG00000006611	ENST00000005226	T	0.38887	1.11	5.9	4.04	0.47022	.	0.722036	0.13283	N	0.399593	T	0.33585	0.0868	.	.	.	0.34225	D	0.67587	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	9	0.49607	T	0.09	.	9.8196	0.40874	0.1591:0.0:0.8409:0.0	.	636	Q7RTU8	.	C	636	ENSP00000005226:R636C	ENSP00000005226:R636C	R	-	1	0	USH1C	17487586	1.000000	0.71417	0.875000	0.34327	0.542000	0.35054	3.145000	0.50623	0.855000	0.35359	0.585000	0.79938	CGC		0.627	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
E2F8	79733	broad.mit.edu	37	11	19246336	19246336	+	Missense_Mutation	SNP	G	G	A	rs375220543		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:19246336G>A	ENST00000527884.1	-	13	2705	c.2473C>T	c.(2473-2475)Cgt>Tgt	p.R825C	E2F8_ENST00000529188.1_5'Flank|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.R825C	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	825					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R825C(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGGGTACGGAAGAAACTT	0.483																																					p.R825C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2473T	11						.						95.0	92.0	93.0					11																	19246336		2199	4293	6492	19202912	SO:0001583	missense	79733	exon13				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2473C>T	11.37:g.19246336G>A	ENSP00000434199:p.Arg825Cys	Somatic		Capture	Illumina HiSeq	Phase_I	19202912	NM_024680	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810854	0.70797	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.23950	1.88;1.88	6.07	5.11	0.69529	.	0.127244	0.64402	D	0.000019	T	0.50326	0.1609	M	0.69823	2.125	0.54753	D	0.999988	D	0.89917	1.0	D	0.73708	0.981	T	0.49943	-0.8885	10	0.87932	D	0	-12.6643	15.8678	0.79076	0.0:0.0:0.8638:0.1362	.	825	A0AVK6	E2F8_HUMAN	C	825	ENSP00000434199:R825C;ENSP00000250024:R825C	ENSP00000250024:R825C	R	-	1	0	E2F8	19202912	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.415000	0.66411	2.885000	0.99019	0.655000	0.94253	CGT		0.483	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680	
NAV2	89797	broad.mit.edu	37	11	20070671	20070671	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:20070671G>A	ENST00000396087.3	+	16	4468	c.4369G>A	c.(4369-4371)Gcc>Acc	p.A1457T	NAV2_ENST00000527559.2_Missense_Mutation_p.A1386T|NAV2_ENST00000311043.8_Missense_Mutation_p.A520T|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000396085.1_Missense_Mutation_p.A1434T|NAV2_ENST00000360655.4_Missense_Mutation_p.A1370T|NAV2_ENST00000540292.1_Missense_Mutation_p.A1388T|NAV2_ENST00000533917.1_Missense_Mutation_p.A520T|NAV2_ENST00000349880.4_Missense_Mutation_p.A1434T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1457	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A1457T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGCCTCATCGCCTCCTCCAA	0.557																																					p.A1370T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4108A	11						.						144.0	141.0	142.0					11																	20070671		2203	4300	6503	20027247	SO:0001583	missense	89797	exon15			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4369G>A	11.37:g.20070671G>A	ENSP00000379396:p.Ala1457Thr	Somatic		Capture	Illumina HiSeq	Phase_I	20027247	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898642	0.02472	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.27402	1.67;1.78;1.79;1.79;1.68;1.68;3.27;1.95;3.27	5.45	-2.49	0.06403	.	1.052220	0.07414	N	0.892912	T	0.18759	0.0450	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.13145	0.0;0.004;0.001;0.001;0.0;0.007	B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.002;0.002	T	0.31223	-0.9951	9	.	.	.	.	9.9063	0.41377	0.4225:0.0892:0.4883:0.0	.	1434;1457;520;520;1434;1370	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	T	1370;1434;1434;1457;1386;1388;520;520;520;520	ENSP00000353871:A1370T;ENSP00000379394:A1434T;ENSP00000309577:A1434T;ENSP00000379396:A1457T;ENSP00000435395:A1386T;ENSP00000443489:A1388T;ENSP00000437316:A520T;ENSP00000437136:A520T;ENSP00000312169:A520T	.	A	+	1	0	NAV2	20027247	0.000000	0.05858	0.020000	0.16555	0.237000	0.25408	-1.030000	0.03581	-0.863000	0.04084	-1.814000	0.00607	GCC		0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
SLC6A5	9152	broad.mit.edu	37	11	20623022	20623022	+	Silent	SNP	G	G	A	rs370151412		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:20623022G>A	ENST00000525748.1	+	2	624	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	117					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A117A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCGGCAACGCGCTGCACTGTA	0.701																																					p.A117A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G351A	11						.						43.0	44.0	43.0					11																	20623022		2203	4299	6502	20579598	SO:0001819	synonymous_variant	9152	exon2			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.351G>A	11.37:g.20623022G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20579598	NM_004211	O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	CCDS7854.1																																																																																				0.701	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
NELL1	4745	broad.mit.edu	37	11	21135140	21135140	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:21135140G>A	ENST00000357134.5	+	13	1458	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	NELL1_ENST00000532434.1_Missense_Mutation_p.D436N|NELL1_ENST00000325319.5_Missense_Mutation_p.D379N|NELL1_ENST00000298925.5_Missense_Mutation_p.D464N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	436	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.D436N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTCAGATATTGATGAGTGTGC	0.358																																					p.D436N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1306A	11						.						256.0	229.0	238.0					11																	21135140		2203	4300	6503	21091716	SO:0001583	missense	4745	exon13			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1306G>A	11.37:g.21135140G>A	ENSP00000349654:p.Asp436Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21091716	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516056	0.85495	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	5.29	5.29	0.74685	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	L	0.37697	1.125	0.58432	D	0.999993	D;D;D;D	0.76494	0.996;0.999;0.993;0.999	D;D;D;D	0.85130	0.993;0.997;0.913;0.997	D	0.93571	0.6904	10	0.32370	T	0.25	-17.6919	17.1145	0.86685	0.0:0.0:1.0:0.0	.	379;464;436;436	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	N	464;436;379;436	ENSP00000298925:D464N;ENSP00000349654:D436N;ENSP00000317837:D379N;ENSP00000437170:D436N	ENSP00000298925:D464N	D	+	1	0	NELL1	21091716	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.165000	0.94761	2.470000	0.83445	0.591000	0.81541	GAT		0.358	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
OR5AS1	219447	broad.mit.edu	37	11	55798413	55798413	+	Silent	SNP	C	C	T	rs201692803		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:55798413C>T	ENST00000313555.1	+	1	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I173I(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCTCCAATATCGTCAATCATT	0.438																																					p.I173I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C519T	11						.						261.0	253.0	256.0					11																	55798413		2201	4296	6497	55554989	SO:0001819	synonymous_variant	219447	exon1			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.519C>T	11.37:g.55798413C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55554989	NM_001001921	Q6IFB8	Silent	SNP	ENST00000313555.1	37	CCDS31516.1																																																																																				0.438	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921	
OR8K3	219473	broad.mit.edu	37	11	56086257	56086257	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:56086257G>C	ENST00000312711.1	+	1	475	c.475G>C	c.(475-477)Gtc>Ctc	p.V159L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V159L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCTCTTCTAGTCACCATAAA	0.398																																					p.V159L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475C	11						.						111.0	113.0	112.0					11																	56086257		2201	4296	6497	55842833	SO:0001583	missense	219473	exon1			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.475G>C	11.37:g.56086257G>C	ENSP00000323555:p.Val159Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55842833	NM_001005202	Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	0.514	-0.865141	0.02590	.	.	ENSG00000181689	ENST00000312711	T	0.00115	8.71	4.56	0.429	0.16506	GPCR, rhodopsin-like superfamily (1);	1.150180	0.06367	N	0.712808	T	0.00073	0.0002	N	0.04686	-0.185	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.17471	-1.0368	10	0.35671	T	0.21	.	0.2874	0.00253	0.248:0.1641:0.2994:0.2885	.	159	Q8NH51	OR8K3_HUMAN	L	159	ENSP00000323555:V159L	ENSP00000323555:V159L	V	+	1	0	OR8K3	55842833	0.000000	0.05858	0.082000	0.20525	0.001000	0.01503	0.293000	0.19029	0.224000	0.20940	-0.526000	0.04340	GTC		0.398	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
TMEM132A	54972	broad.mit.edu	37	11	60701095	60701095	+	Missense_Mutation	SNP	C	C	T	rs151003082		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:60701095C>T	ENST00000453848.2	+	8	1596	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R481C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	480						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R481C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCTGGTGGCGCCGGCTCCG	0.711																																					p.R481C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1441T	11						.	C	CYS/ARG,CYS/ARG	1,4389		0,1,2194	17.0	22.0	20.0		1441,1438	4.7	1.0	11	dbSNP_134	20	0,8590		0,0,4295	no	missense,missense	TMEM132A	NM_017870.3,NM_178031.2	180,180	0,1,6489	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	481/1025,480/1024	60701095	1,12979	2195	4295	6490	60457671	SO:0001583	missense	54972	exon8			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1438C>T	11.37:g.60701095C>T	ENSP00000405823:p.Arg480Cys	Somatic		Capture	Illumina HiSeq	Phase_I	60457671	NM_017870	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.231027|4.231027	0.79688|0.79688	2.28E-4|2.28E-4	0.0|0.0	ENSG00000006118|ENSG00000006118	ENST00000536409|ENST00000444690;ENST00000453848;ENST00000005286	.|T;T	.|0.14022	.|2.54;2.54	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.197247	.|0.36134	.|N	.|0.002780	T|T	0.30417|0.30417	0.0764|0.0764	L|L	0.50333|0.50333	1.59|1.59	0.49213|0.49213	D|D	0.999761|0.999761	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74674	.|0.978;0.978;0.984	T|T	0.01537|0.01537	-1.1330|-1.1330	5|10	.|0.87932	.|D	.|0	.|.	13.4949|13.4949	0.61419|0.61419	0.0:0.843:0.157:0.0|0.0:0.843:0.157:0.0	.|.	.|231;480;481	.|Q24JP5-4;Q24JP5;Q24JP5-2	.|.;T132A_HUMAN;.	V|C	71|231;480;481	.|ENSP00000405823:R480C;ENSP00000005286:R481C	.|ENSP00000005286:R481C	A|R	+|+	2|1	0|0	TMEM132A|TMEM132A	60457671|60457671	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.971000|0.971000	0.29396|0.29396	2.343000|2.343000	0.79666|0.79666	0.555000|0.555000	0.69702|0.69702	GCG|CGC		0.711	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
CD6	923	broad.mit.edu	37	11	60778607	60778607	+	Splice_Site	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:60778607G>T	ENST00000313421.7	+	6	1336	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Splice_Site_p.E384*|CD6_ENST00000344028.5_Splice_Site_p.E384*|CD6_ENST00000352009.5_Splice_Site_p.E384*|CD6_ENST00000452451.2_Splice_Site_p.E384*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	384					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)	p.E384*(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGTCACTATAGGTAAGTGTTG	0.527																																					p.E384X	Pancreas(169;904 2017 4767 38890 42505)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1150T	11						.						171.0	133.0	146.0					11																	60778607		2203	4299	6502	60535183	SO:0001630	splice_region_variant	923	exon6				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1150+1G>T	11.37:g.60778607G>T		Somatic		Capture	Illumina HiSeq	Phase_I	60535183	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Nonsense_Mutation	SNP	ENST00000313421.7	37	CCDS7999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.868394|4.868394	0.91587|0.91587	.|.	.|.	ENSG00000013725|ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000433107;ENST00000452451;ENST00000352009|ENST00000538611	.|.	.|.	.|.	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.352726|.	0.20874|.	N|.	0.084112|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.30854|.	T|.	0.27|.	.|.	12.0453|12.0453	0.53477|0.53477	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	384;384;384;283;384;384|126	.|.	ENSP00000323280:E384X|.	E|X	+|+	1|3	0|2	CD6|CD6	60535183|60535183	0.996000|0.996000	0.38824|0.38824	0.975000|0.975000	0.42487|0.42487	0.053000|0.053000	0.15095|0.15095	3.795000|3.795000	0.55499|0.55499	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GAA|TAG		0.527	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725	Nonsense_Mutation
MYRF	745	broad.mit.edu	37	11	61539200	61539200	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:61539200C>T	ENST00000278836.5	+	6	1065	c.969C>T	c.(967-969)caC>caT	p.H323H	MYRF_ENST00000327797.1_5'Flank|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.H314H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	323	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H314H(1)									CGCCTTGGCACCCGCCAGGTG	0.692																																					p.H314H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C942T	11						.						62.0	74.0	70.0					11																	61539200		2202	4298	6500	61295776	SO:0001819	synonymous_variant	745	exon6				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.969C>T	11.37:g.61539200C>T		Somatic		Capture	Illumina HiSeq	Phase_I	61295776	NM_013279	O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	CCDS44622.1																																																																																				0.692	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
BEST1	7439	broad.mit.edu	37	11	61719333	61719333	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:61719333C>T	ENST00000378043.4	+	2	698	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	BEST1_ENST00000534553.1_Intron|BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000435278.2_Missense_Mutation_p.R19C|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000449131.2_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	19					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R19C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCCTTCTCCCGCCTGCTGCT	0.542																																					p.R19C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55T	11						.						100.0	94.0	96.0					11																	61719333		2202	4299	6501	61475909	SO:0001583	missense	7439	exon2			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.55C>T	11.37:g.61719333C>T	ENSP00000367282:p.Arg19Cys	Somatic		Capture	Illumina HiSeq	Phase_I	61475909	NM_004183	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093714	0.56075	.	.	ENSG00000167995	ENST00000378043;ENST00000435278	D;D	0.98835	-5.17;-5.17	5.46	2.07	0.26955	.	0.346384	0.26457	N	0.024266	D	0.97396	0.9148	M	0.89968	3.075	0.80722	D	1	B;P	0.35745	0.211;0.518	B;B	0.27608	0.081;0.045	D	0.95429	0.8514	10	0.66056	D	0.02	.	7.3464	0.26666	0.1332:0.6754:0.1154:0.0759	.	19;19	B7Z375;O76090	.;BEST1_HUMAN	C	19	ENSP00000367282:R19C;ENSP00000408390:R19C	ENSP00000367282:R19C	R	+	1	0	BEST1	61475909	0.467000	0.25831	0.999000	0.59377	0.996000	0.88848	1.114000	0.31196	0.609000	0.30018	0.561000	0.74099	CGC		0.542	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183	
SF1	7536	broad.mit.edu	37	11	64540917	64540917	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:64540917delG	ENST00000377390.3	-	3	558	c.221delC	c.(220-222)cctfs	p.P74fs	SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Frame_Shift_Del_p.P199fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.P74fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.P74fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.P74fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.P48fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	74					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P74fs*63(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTCAGGGTTAGGGGGGATGCC	0.453																																					p.P74fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.221delC	11						.						80.0	69.0	73.0					11																	64540917		2201	4297	6498	64297493	SO:0001589	frameshift_variant	7536	exon3			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.221delC	11.37:g.64540917delG	ENSP00000366607:p.Pro74fs	Somatic		Capture	Illumina HiSeq	Phase_I	64297493	NM_201998	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	ENST00000377390.3	37	CCDS31599.1																																																																																				0.453	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
RELA	5970	broad.mit.edu	37	11	65427137	65427137	+	Splice_Site	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:65427137G>A	ENST00000406246.3	-	6	820	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	RELA_ENST00000525693.1_Splice_Site_p.R187C|RELA_ENST00000308639.9_Splice_Site_p.R184C	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	187	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)	p.R187C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGCTACTCACGATTGTCAAAG	0.617																																					p.R187C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C559T	11						.						66.0	69.0	68.0					11																	65427137		2201	4297	6498	65183713	SO:0001630	splice_region_variant	5970	exon6			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.559+1C>T	11.37:g.65427137G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65183713	NM_021975	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815781	0.70912	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749	T;T;T;T	0.52754	0.68;0.75;0.65;0.69	4.71	4.71	0.59529	Rel homology (2);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.81682	2.555	0.80722	D	1	P;D;D;D;D;D	0.89917	0.907;1.0;1.0;1.0;1.0;0.968	B;D;D;D;D;B	0.74348	0.193;0.973;0.962;0.983;0.962;0.167	T	0.69518	-0.5124	9	.	.	.	-9.1323	10.4333	0.44419	0.0:0.0:0.805:0.195	.	187;174;184;187;198;187	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	C	187;187;184;187;198;198;178;156	ENSP00000384273:R187C;ENSP00000432537:R187C;ENSP00000311508:R184C;ENSP00000433526:R198C	.	R	-	1	0	RELA	65183713	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.445000	0.52921	2.163000	0.67991	0.455000	0.32223	CGT		0.617	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975	Missense_Mutation
NPAS4	266743	broad.mit.edu	37	11	66191518	66191518	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:66191518C>A	ENST00000311034.2	+	7	1333	c.1157C>A	c.(1156-1158)gCa>gAa	p.A386E		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	386					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)|signal transducer activity (GO:0004871)	p.A386E(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GTTGTCTCTGCATCAGAAGAG	0.552																																					p.A386E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1157A	11						.						127.0	131.0	130.0					11																	66191518		2200	4295	6495	65948094	SO:0001583	missense	266743	exon7			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1157C>A	11.37:g.66191518C>A	ENSP00000311196:p.Ala386Glu	Somatic		Capture	Illumina HiSeq	Phase_I	65948094	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	3.930	-0.016403	0.07681	.	.	ENSG00000174576	ENST00000311034	T	0.42131	0.98	4.65	3.72	0.42706	.	0.775001	0.11314	N	0.576790	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30446	-0.9978	10	0.02654	T	1	-0.0592	6.2568	0.20877	0.0:0.7105:0.1903:0.0993	.	386	Q8IUM7	NPAS4_HUMAN	E	386	ENSP00000311196:A386E	ENSP00000311196:A386E	A	+	2	0	NPAS4	65948094	0.001000	0.12720	0.485000	0.27403	0.747000	0.42532	1.263000	0.33004	1.143000	0.42306	0.563000	0.77884	GCA		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
CTSF	8722	broad.mit.edu	37	11	66333834	66333834	+	Nonsense_Mutation	SNP	G	G	A	rs375562245		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:66333834G>A	ENST00000310325.5	-	5	758	c.649C>T	c.(649-651)Cga>Tga	p.R217*	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	217					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.R217*(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCTGTGCTCGCACCATGTTA	0.567																																					p.R217X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C649T	11						.	G	stop/ARG	0,4400		0,0,2200	81.0	72.0	75.0		649	3.8	0.0	11		75	1,8589	1.2+/-3.3	0,1,4294	no	stop-gained	CTSF	NM_003793.3		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		217/485	66333834	1,12989	2200	4295	6495	66090410	SO:0001587	stop_gained	8722	exon5			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.649C>T	11.37:g.66333834G>A	ENSP00000310832:p.Arg217*	Somatic		Capture	Illumina HiSeq	Phase_I	66090410	NM_003793	B2R964|O95240|Q9NSU4|Q9UKQ5	Nonsense_Mutation	SNP	ENST00000310325.5	37	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.86|19.86	3.905015|3.905015	0.72868|0.72868	0.0|0.0	1.16E-4|1.16E-4	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325	.|.	.|.	.|.	5.67|5.67	3.75|3.75	0.43078|0.43078	.|.	.|0.351547	.|0.25890	.|N	.|0.027626	T|.	0.42404|.	0.1201|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.45789|.	-0.9237|.	3|.	.|0.11485	.|T	.|0.65	.|.	11.9033|11.9033	0.52697|0.52697	0.0:0.0:0.54:0.46|0.0:0.0:0.54:0.46	.|.	.|.	.|.	.|.	V|X	64|217	.|.	.|ENSP00000310832:R217X	A|R	-|-	2|1	0|2	CTSF|CTSF	66090410|66090410	0.019000|0.019000	0.18553|0.18553	0.014000|0.014000	0.15608|0.15608	0.724000|0.724000	0.41520|0.41520	1.849000|1.849000	0.39318|0.39318	0.703000|0.703000	0.31848|0.31848	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.567	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
RBM4	5936	broad.mit.edu	37	11	66407340	66407340	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:66407340G>A	ENST00000409406.1	+	1	935	c.158G>A	c.(157-159)cGc>cAc	p.R53H	RBM4_ENST00000506523.2_Missense_Mutation_p.R53H|RBM4_ENST00000398692.4_Missense_Mutation_p.R53H|RBM4_ENST00000532968.1_Missense_Mutation_p.R53H|RBM4_ENST00000530235.1_Missense_Mutation_p.R53H|RBM4_ENST00000396053.4_Missense_Mutation_p.R53H|RBM4_ENST00000408993.2_Missense_Mutation_p.R53H|RBM4_ENST00000503028.2_Missense_Mutation_p.R53H|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000483858.1_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.R53H|RBM4_ENST00000578778.1_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000412278.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R53H(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GATGCCATACGCAACCTGCAC	0.468																																					p.R53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	11						.						127.0	124.0	125.0					11																	66407340		2200	4292	6492	66163916	SO:0001583	missense	5936	exon2			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.158G>A	11.37:g.66407340G>A	ENSP00000386894:p.Arg53His	Somatic		Capture	Illumina HiSeq	Phase_I	66163916	NM_001198843	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754948	0.49362	.	.	ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000503028;ENST00000514361;ENST00000310092;ENST00000396053;ENST00000408993;ENST00000483858;ENST00000398692;ENST00000510173;ENST00000506523;ENST00000530235;ENST00000532968;ENST00000409406	T;T;T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	4.81	4.81	0.61882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.212294	0.42172	U	0.000753	T	0.13756	0.0333	.	.	.	0.38944	D	0.958203	B;B;B;B	0.27286	0.081;0.003;0.105;0.174	B;B;B;B	0.26969	0.016;0.008;0.075;0.03	T	0.06320	-1.0833	9	0.45353	T	0.12	-4.5677	9.4553	0.38751	0.0971:0.0:0.9029:0.0	.	53;53;53;53	E7EQS3;Q9BWF3-3;Q9BWF3;Q9BWF3-2	.;.;RBM4_HUMAN;.	H	53	ENSP00000425760:R53H;ENSP00000309166:R53H;ENSP00000413497:R53H;ENSP00000386561:R53H;ENSP00000435821:R53H;ENSP00000381680:R53H;ENSP00000422301:R53H;ENSP00000423572:R53H;ENSP00000432150:R53H;ENSP00000432020:R53H;ENSP00000386894:R53H	ENSP00000425760:R53H	R	+	2	0	RBM4;RBM14-RBM4	66163916	0.999000	0.42202	0.986000	0.45419	0.993000	0.82548	3.930000	0.56522	2.411000	0.81874	0.549000	0.68633	CGC		0.468	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896	
C11orf80	79703	broad.mit.edu	37	11	66605883	66605883	+	Missense_Mutation	SNP	G	G	A	rs371552584		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:66605883G>A	ENST00000360962.4	+	15	1721	c.1714G>A	c.(1714-1716)Gca>Aca	p.A572T	C11orf80_ENST00000525449.2_Missense_Mutation_p.A380T|C11orf80_ENST00000532565.2_Missense_Mutation_p.A354T|C11orf80_ENST00000527634.1_Missense_Mutation_p.A355T|C11orf80_ENST00000540737.1_Missense_Mutation_p.A406T|C11orf80_ENST00000346672.4_Missense_Mutation_p.A381T	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	572								p.A572T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CACTGAGGACGCACCTGATAA	0.458																																					p.A572T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1714A	11						.	G	THR/ALA	0,3744		0,0,1872	82.0	82.0	82.0		1714	-0.4	0.0	11		82	1,8211		0,1,4105	no	missense	C11orf80	NM_024650.3	58	0,1,5977	AA,AG,GG		0.0122,0.0,0.0084	benign	572/678	66605883	1,11955	1872	4106	5978	66362459	SO:0001583	missense	79703	exon15					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1714G>A	11.37:g.66605883G>A	ENSP00000354227:p.Ala572Thr	Somatic		Capture	Illumina HiSeq	Phase_I	66362459	NM_024650	Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	CCDS53664.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797480	0.31777	0.0	1.22E-4	ENSG00000173715	ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449	T	0.30714	1.52	3.84	-0.355	0.12587	.	0.843562	0.09851	N	0.747529	T	0.15652	0.0377	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.26002	0.124;0.124;0.053;0.053;0.139	B;B;B;B;B	0.21917	0.037;0.034;0.037;0.037;0.02	T	0.28933	-1.0028	10	0.23891	T	0.37	-0.0707	4.623	0.12465	0.2133:0.3698:0.4169:0.0	.	406;381;355;417;407	B4DXL1;C9JZP8;E9PKM2;Q8N6T0;E9PKZ8	.;.;.;CK080_HUMAN;.	T	572;381;355;407;406;381	ENSP00000354227:A572T	ENSP00000317408:A381T	A	+	1	0	C11orf80	66362459	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.489000	0.06490	-0.048000	0.13401	-0.140000	0.14226	GCA		0.458	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650	
TBC1D10C	374403	broad.mit.edu	37	11	67176565	67176565	+	Frame_Shift_Del	DEL	C	C	-	rs147560025		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:67176565delC	ENST00000542590.1	+	8	968	c.954delC	c.(952-954)atcfs	p.I318fs	TBC1D10C_ENST00000312390.5_Frame_Shift_Del_p.I318fs|TBC1D10C_ENST00000526387.1_Frame_Shift_Del_p.P255fs			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	318					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.A321fs*100(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TTCGAGCCATCCCCCCCGCGC	0.687																																					p.I318fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.954delC	11						.																																			66933141	SO:0001589	frameshift_variant	374403	exon9			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.954delC	11.37:g.67176565delC	ENSP00000443654:p.Ile318fs	Somatic		Capture	Illumina HiSeq	Phase_I	66933141	NM_198517	G3V1D6	Frame_Shift_Del	DEL	ENST00000542590.1	37	CCDS8162.1																																																																																				0.687	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517	
CPT1A	1374	broad.mit.edu	37	11	68525174	68525174	+	Missense_Mutation	SNP	G	G	T	rs144781827		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:68525174G>T	ENST00000265641.5	-	19	2414	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Missense_Mutation_p.L754M|CPT1A_ENST00000376618.2_Intron	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	754					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.L754M(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GCTTCTTTCAGGTGCCTTCCA	0.393																																					p.L754M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2260A	11						.						120.0	115.0	117.0					11																	68525174		2200	4294	6494	68281750	SO:0001583	missense	1374	exon19			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2260C>A	11.37:g.68525174G>T	ENSP00000265641:p.Leu754Met	Somatic		Capture	Illumina HiSeq	Phase_I	68281750	NM_001876	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.649862	0.29336	.	.	ENSG00000110090	ENST00000265641;ENST00000538308;ENST00000539743	D;D	0.87571	-2.27;-2.27	5.0	-0.563	0.11778	.	0.276012	0.33199	N	0.005173	D	0.89876	0.6842	M	0.89840	3.065	0.34400	D	0.695181	P	0.42620	0.785	P	0.53988	0.739	D	0.86416	0.1751	10	0.66056	D	0.02	.	1.0367	0.01550	0.1629:0.2283:0.235:0.3738	.	754	P50416	CPT1A_HUMAN	M	754	ENSP00000265641:L754M;ENSP00000446108:L754M	ENSP00000265641:L754M	L	-	1	2	CPT1A	68281750	1.000000	0.71417	0.147000	0.22382	0.027000	0.11550	1.290000	0.33319	-0.163000	0.10946	-0.300000	0.09419	CTG		0.393	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
PPFIA1	8500	broad.mit.edu	37	11	70189942	70189942	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:70189942G>A	ENST00000253925.7	+	15	2090	c.1875G>A	c.(1873-1875)gcG>gcA	p.A625A	PPFIA1_ENST00000389547.3_Silent_p.A625A|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	625					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.A625A(2)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGGCCGACGCGCACACACTAG	0.562																																					p.A625A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1875A	11						.						82.0	55.0	64.0					11																	70189942		2200	4294	6494	69867590	SO:0001819	synonymous_variant	8500	exon15			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1875G>A	11.37:g.70189942G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69867590	NM_003626	A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	5.441	0.266427	0.10294	.	.	ENSG00000131626	ENST00000528750	.	.	.	5.3	-5.39	0.02664	.	.	.	.	.	T	0.36441	0.0967	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33752	-0.9856	4	.	.	.	.	1.3365	0.02145	0.3847:0.2728:0.1559:0.1867	.	.	.	.	H	29	.	.	R	+	2	0	PPFIA1	69867590	0.000000	0.05858	0.446000	0.26920	0.439000	0.31926	-1.996000	0.01471	-1.648000	0.01510	-0.367000	0.07326	CGC		0.562	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
DHCR7	1717	broad.mit.edu	37	11	71152316	71152316	+	Missense_Mutation	SNP	C	C	T	rs151170252		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:71152316C>T	ENST00000355527.3	-	6	859	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	DHCR7_ENST00000407721.2_Missense_Mutation_p.A195T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	195					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.A195T(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						TTGACCATGGCGAAGGTGGAG	0.572									Smith-Lemli-Opitz syndrome				C|||	1	0.000199681	0.0008	0.0	5008	,	,		20420	0.0		0.0	False		,,,				2504	0.0				p.A195T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G583A	11						.	C	THR/ALA,THR/ALA	3,4397	6.2+/-15.9	0,3,2197	143.0	113.0	123.0		583,583	4.1	1.0	11	dbSNP_134	123	0,8588		0,0,4294	no	missense,missense	DHCR7	NM_001163817.1,NM_001360.2	58,58	0,3,6491	TT,TC,CC		0.0,0.0682,0.0231	possibly-damaging,possibly-damaging	195/476,195/476	71152316	3,12985	2200	4294	6494	70829964	SO:0001583	missense	1717	exon6	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.583G>A	11.37:g.71152316C>T	ENSP00000347717:p.Ala195Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70829964	NM_001360	B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761851	0.69763	6.82E-4	0.0	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316	D;D;D	0.97941	-4.62;-4.62;-4.62	4.14	4.14	0.48551	.	0.054635	0.64402	D	0.000001	D	0.96833	0.8966	M	0.66297	2.02	0.80722	D	1	D	0.56521	0.976	P	0.47251	0.542	D	0.96016	0.9005	10	0.36615	T	0.2	-23.9123	14.271	0.66152	0.0:1.0:0.0:0.0	.	195	Q9UBM7	DHCR7_HUMAN	T	195;195;207;163	ENSP00000384739:A195T;ENSP00000347717:A195T;ENSP00000435047:A163T	ENSP00000347717:A195T	A	-	1	0	DHCR7	70829964	0.846000	0.29590	0.992000	0.48379	0.539000	0.34962	5.102000	0.64572	2.035000	0.60131	0.313000	0.20887	GCC		0.572	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360	
ARHGEF17	9828	broad.mit.edu	37	11	73078717	73078717	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:73078717T>C	ENST00000263674.3	+	21	6434	c.6084T>C	c.(6082-6084)agT>agC	p.S2028S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2028					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S2028S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGTTATCAGTGGAGGTGATG	0.637																																					p.S2028S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6084C	11						.						98.0	96.0	96.0					11																	73078717		2200	4293	6493	72756365	SO:0001819	synonymous_variant	9828	exon21			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.6084T>C	11.37:g.73078717T>C		Somatic		Capture	Illumina HiSeq	Phase_I	72756365	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																				0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
PLEKHB1	58473	broad.mit.edu	37	11	73366915	73366915	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:73366915G>A	ENST00000354190.5	+	6	889	c.458G>A	c.(457-459)cGc>cAc	p.R153H	PLEKHB1_ENST00000398492.4_Intron|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.R134H|PLEKHB1_ENST00000227214.6_Intron|PLEKHB1_ENST00000535129.1_Intron|PLEKHB1_ENST00000543085.1_Intron	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	153					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.R153H(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						TGTGTGACCCGCTCGTGGAGC	0.637																																					p.R153H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	11						.						52.0	58.0	56.0					11																	73366915		1951	4127	6078	73044563	SO:0001583	missense	58473	exon6			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.458G>A	11.37:g.73366915G>A	ENSP00000346127:p.Arg153His	Somatic		Capture	Illumina HiSeq	Phase_I	73044563	NM_021200	A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559197	0.27827	.	.	ENSG00000021300	ENST00000354190;ENST00000398494;ENST00000539157;ENST00000542389	.	.	.	4.49	1.46	0.22682	.	0.880319	0.09621	N	0.777587	T	0.28300	0.0699	N	0.08118	0	0.45554	D	0.998506	B	0.02656	0.0	B	0.01281	0.0	T	0.10823	-1.0613	9	0.41790	T	0.15	-10.8289	3.5684	0.07908	0.2148:0.0:0.5784:0.2068	.	153	Q9UF11	PKHB1_HUMAN	H	153;134;141;134	.	ENSP00000346127:R153H	R	+	2	0	PLEKHB1	73044563	0.430000	0.25538	0.612000	0.29024	0.637000	0.38172	0.737000	0.26144	0.202000	0.20498	0.491000	0.48974	CGC		0.637	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1		
RAB6A	5870	broad.mit.edu	37	11	73429869	73429869	+	Intron	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:73429869G>A	ENST00000336083.3	-	4	639				RAB6A_ENST00000536566.1_Missense_Mutation_p.R51C|RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000310653.6_Missense_Mutation_p.R84C	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family						antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)	p.R84C(1)		large_intestine(2)|lung(2)	4						GCAGAATCACGGATGTAACTG	0.398																																					p.R84C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C250T	11						.						128.0	125.0	126.0					11																	73429869		2200	4293	6493	73107517	SO:0001627	intron_variant	5870	exon4			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.184-106C>T	11.37:g.73429869G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73107517	NM_002869	A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	ENST00000336083.3	37	CCDS8224.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366959	0.82463	.	.	ENSG00000175582	ENST00000310653;ENST00000393571;ENST00000536566;ENST00000539750	D;D	0.82526	-1.62;-1.62	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96244	0.9178	10	0.87932	D	0	-1.1727	19.2924	0.94105	0.0:0.0:1.0:0.0	.	84	P20340-2	.	C	84;84;51;84	ENSP00000311449:R84C;ENSP00000437863:R51C	ENSP00000311449:R84C	R	-	1	0	RAB6A	73107517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.199000	0.72112	2.878000	0.98634	0.650000	0.86243	CGT		0.398	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2		
WNT11	7481	broad.mit.edu	37	11	75898231	75898231	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:75898231C>T	ENST00000322563.3	-	5	1067	c.943G>A	c.(943-945)Ggg>Agg	p.G315R		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	315					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)	p.G315R(1)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						TAGCCACGCCCGCAGCACATA	0.607																																					p.G315R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G943A	11						.						169.0	133.0	146.0					11																	75898231		2200	4292	6492	75575879	SO:0001583	missense	7481	exon5			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.943G>A	11.37:g.75898231C>T	ENSP00000325526:p.Gly315Arg	Somatic		Capture	Illumina HiSeq	Phase_I	75575879	NM_004626	B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709812	0.89018	.	.	ENSG00000085741	ENST00000322563	D	0.81739	-1.53	4.76	4.76	0.60689	.	0.050666	0.85682	D	0.000000	D	0.91734	0.7386	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.93505	0.6848	10	0.87932	D	0	.	17.6289	0.88100	0.0:1.0:0.0:0.0	.	315	O96014	WNT11_HUMAN	R	315	ENSP00000325526:G315R	ENSP00000325526:G315R	G	-	1	0	WNT11	75575879	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	7.705000	0.84606	2.579000	0.87056	0.455000	0.32223	GGG		0.607	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626	
MYO7A	4647	broad.mit.edu	37	11	76873961	76873961	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:76873961delC	ENST00000409709.3	+	14	1889	c.1617delC	c.(1615-1617)atcfs	p.I539fs	MYO7A_ENST00000409893.1_Frame_Shift_Del_p.I539fs|MYO7A_ENST00000409619.2_Frame_Shift_Del_p.I528fs|MYO7A_ENST00000458637.2_Frame_Shift_Del_p.I539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAACTACATCCCCCCCAAGA	0.567																																					p.I539fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1617delC	11						.						205.0	231.0	222.0					11																	76873961		2118	4224	6342	76551609	SO:0001589	frameshift_variant	4647	exon14			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1617delC	11.37:g.76873961delC	ENSP00000386331:p.Ile539fs	Somatic		Capture	Illumina HiSeq	Phase_I	76551609	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Del	DEL	ENST00000409709.3	37	CCDS53683.1																																																																																				0.567	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
GRM5	2915	broad.mit.edu	37	11	88242625	88242625	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:88242625C>A	ENST00000305447.4	-	9	2923	c.2774G>T	c.(2773-2775)cGg>cTg	p.R925L	GRM5_ENST00000305432.5_Missense_Mutation_p.R893L|GRM5_ENST00000393297.1_Intron|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Missense_Mutation_p.R925L|GRM5-AS1_ENST00000531994.1_RNA|GRM5_ENST00000455756.2_Missense_Mutation_p.R893L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	925					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)	p.R925L(1)|p.R893L(1)		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)	GTGCTGCCCCCGGCTGCTCTT	0.587																																					p.R893L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2678T	11						.						25.0	27.0	26.0					11																	88242625		2044	4094	6138	87882273	SO:0001583	missense	2915	exon9			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.2774G>T	11.37:g.88242625C>A	ENSP00000306138:p.Arg925Leu	Somatic		Capture	Illumina HiSeq	Phase_I	87882273	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744168	0.69418	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.29	5.29	0.74685	.	0.420661	0.25900	N	0.027571	T	0.27169	0.0666	L	0.38175	1.15	0.33957	D	0.645209	B;P	0.35401	0.288;0.499	B;B	0.32342	0.066;0.144	T	0.39522	-0.9610	9	.	.	.	.	12.3061	0.54902	0.0:0.9222:0.0:0.0778	.	893;925	P41594-2;P41594	.;GRM5_HUMAN	L	925;893;893;925	ENSP00000402912:R925L;ENSP00000405690:R893L;ENSP00000305905:R893L;ENSP00000306138:R925L	.	R	-	2	0	GRM5	87882273	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.874000	0.63064	2.462000	0.83206	0.655000	0.94253	CGG		0.587	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
NAALAD2	10003	broad.mit.edu	37	11	89885648	89885648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:89885648delA	ENST00000534061.1	+	6	1022	c.792delA	c.(790-792)gcafs	p.A264fs	NAALAD2_ENST00000375944.3_Frame_Shift_Del_p.A264fs|NAALAD2_ENST00000525171.1_Frame_Shift_Del_p.A264fs|NAALAD2_ENST00000321955.4_Frame_Shift_Del_p.A264fs	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	264	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.E266fs*50(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTATCCAGCAAAAGGTAAGG	0.423																																					p.A264fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.792delA	11						.						59.0	57.0	57.0					11																	89885648		2201	4299	6500	89525296	SO:0001589	frameshift_variant	10003	exon6			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.792delA	11.37:g.89885648delA	ENSP00000432481:p.Ala264fs	Somatic		Capture	Illumina HiSeq	Phase_I	89525296	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Frame_Shift_Del	DEL	ENST00000534061.1	37	CCDS8288.1																																																																																				0.423	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
AMOTL1	154810	broad.mit.edu	37	11	94533371	94533371	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:94533371C>A	ENST00000433060.2	+	3	1156	c.1015C>A	c.(1015-1017)Ccc>Acc	p.P339T	AMOTL1_ENST00000317829.8_Missense_Mutation_p.P289T|AMOTL1_ENST00000317837.9_Missense_Mutation_p.P339T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	339					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.P339T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGACCAGCACCCCGGGATGCT	0.597																																					p.P339T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1015A	11						.						124.0	125.0	125.0					11																	94533371		1999	4175	6174	94173019	SO:0001583	missense	154810	exon3			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1015C>A	11.37:g.94533371C>A	ENSP00000387739:p.Pro339Thr	Somatic		Capture	Illumina HiSeq	Phase_I	94173019	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324228	0.24080	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13778	2.56;2.56;2.56	5.13	3.19	0.36642	.	0.278311	0.30979	N	0.008492	T	0.12092	0.0294	L	0.49350	1.555	0.43326	D	0.995353	P;B	0.36909	0.573;0.314	B;B	0.36666	0.23;0.129	T	0.10314	-1.0635	9	.	.	.	-7.4691	7.0828	0.25241	0.0:0.6629:0.1322:0.205	.	289;339	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	T	289;345;339;339	ENSP00000320968:P289T;ENSP00000323474:P339T;ENSP00000387739:P339T	.	P	+	1	0	AMOTL1	94173019	0.772000	0.28567	0.957000	0.39632	0.722000	0.41435	0.761000	0.26489	0.516000	0.28340	-0.266000	0.10368	CCC		0.597	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
NLRX1	79671	broad.mit.edu	37	11	119054633	119054633	+	3'UTR	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:119054633delC	ENST00000409109.1	+	0	4000				PDZD3_ENST00000322712.4_5'Flank|NLRX1_ENST00000409991.1_3'UTR|PDZD3_ENST00000531114.1_5'Flank|NLRX1_ENST00000409265.4_Frame_Shift_Del_p.P905fs|PDZD3_ENST00000525131.1_5'Flank|NLRX1_ENST00000292199.2_3'UTR|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.P905fs|PDZD3_ENST00000355547.5_5'Flank|PDZD3_ENST00000392817.2_5'Flank	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1						innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.P905fs*10(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATCCTCATGCCCCCTTTGCC	0.542																																					p.P904fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2710delC	11						.						94.0	92.0	93.0					11																	119054633		2128	4233	6361	118559843	SO:0001624	3_prime_UTR_variant	79671	exon10			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.*485C>-	11.37:g.119054633delC		Somatic		Capture	Illumina HiSeq	Phase_I	118559843	NM_170722	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Del	DEL	ENST00000409109.1	37	CCDS8416.1																																																																																				0.542	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
STT3A	3703	broad.mit.edu	37	11	125472738	125472738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:125472738delT	ENST00000529196.1	+	6	518	c.312delT	c.(310-312)catfs	p.H104fs	STT3A_ENST00000531491.1_Frame_Shift_Del_p.H12fs|STT3A_ENST00000392708.4_Frame_Shift_Del_p.H104fs			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	104					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.F106fs*45(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATGTACTCCATTTTTTCCACA	0.448																																					p.H104fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.312delT	11						.						249.0	213.0	225.0					11																	125472738		2201	4299	6500	124977948	SO:0001589	frameshift_variant	3703	exon5			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.312delT	11.37:g.125472738delT	ENSP00000436962:p.His104fs	Somatic		Capture	Illumina HiSeq	Phase_I	124977948	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Frame_Shift_Del	DEL	ENST00000529196.1	37	CCDS8458.1																																																																																				0.448	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713	
ADAMTS8	11095	broad.mit.edu	37	11	130286861	130286861	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr11:130286861G>A	ENST00000257359.6	-	3	1776	c.1070C>T	c.(1069-1071)gCg>gTg	p.A357V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	357	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A357V(1)|p.A386V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGTGTGGGCCGCCTGGAGCCC	0.587																																					p.A357V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1070T	11						.						131.0	141.0	138.0					11																	130286861		2036	4188	6224	129792071	SO:0001583	missense	11095	exon3			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1070C>T	11.37:g.130286861G>A	ENSP00000257359:p.Ala357Val	Somatic		Capture	Illumina HiSeq	Phase_I	129792071	NM_007037	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800541	0.90538	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.60424	0.19	4.66	4.66	0.58398	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.047774	0.85682	D	0.000000	T	0.60508	0.2274	N	0.22421	0.69	0.58432	D	0.999999	D	0.76494	0.999	P	0.59357	0.856	T	0.61647	-0.7020	10	0.37606	T	0.19	.	17.91	0.88931	0.0:0.0:1.0:0.0	.	357	Q9UP79	ATS8_HUMAN	V	357;386	ENSP00000257359:A357V	ENSP00000257359:A357V	A	-	2	0	ADAMTS8	129792071	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.934000	0.87649	2.281000	0.76405	0.655000	0.94253	GCG		0.587	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
CHD4	1108	broad.mit.edu	37	12	6692038	6692039	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:6692038_6692039insA	ENST00000357008.2	-	28	4374_4375	c.4211_4212insT	c.(4210-4212)ttgfs	p.L1404fs	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.L1397fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.L1429fs|CHD4_ENST00000309577.6_Frame_Shift_Ins_p.L1432fs|CHD4_ENST00000540960.1_5'UTR|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1404					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.L1404fs*9(1)|p.L1432fs*9(1)		central_nervous_system(2)	2						CAACACGGGCCAACAGAGGAGG	0.5																																					p.L1404fs	Colon(32;586 792 4568 16848 45314)											.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.4212_4213insT	12						.																																			6562300	SO:0001589	frameshift_variant	1108	exon28			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4212dupT	12.37:g.6692040_6692040dupA	ENSP00000349508:p.Leu1404fs	Somatic		Capture	Illumina HiSeq	Phase_I	6562299	NM_001273	Q8IXZ5	Frame_Shift_Ins	INS	ENST00000357008.2	37	CCDS8552.1																																																																																				0.500	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
WSCD2	9671	broad.mit.edu	37	12	108634267	108634267	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:108634267C>T	ENST00000332082.4	+	9	2109	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	WSCD2_ENST00000547525.1_Missense_Mutation_p.R431C|WSCD2_ENST00000261400.3_Missense_Mutation_p.R431C|WSCD2_ENST00000549903.1_Missense_Mutation_p.R431C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	431						integral component of membrane (GO:0016021)		p.R431C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGAGTTCAACCGCAAGTACGG	0.622																																					p.R431C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1291T	12						.						90.0	95.0	93.0					12																	108634267		1971	4165	6136	107158397	SO:0001583	missense	9671	exon8				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1291C>T	12.37:g.108634267C>T	ENSP00000331933:p.Arg431Cys	Somatic		Capture	Illumina HiSeq	Phase_I	107158397	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898182	0.72639	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.38887	1.11;4.59;1.11;4.59	4.77	4.77	0.60923	.	0.101560	0.64402	D	0.000006	T	0.72070	0.3415	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.79792	-0.1654	10	0.87932	D	0	-38.4199	17.0051	0.86391	0.0:1.0:0.0:0.0	.	431;431	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	C	431	ENSP00000448047:R431C;ENSP00000261400:R431C;ENSP00000331933:R431C;ENSP00000447272:R431C	ENSP00000261400:R431C	R	+	1	0	WSCD2	107158397	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.143000	0.42187	2.481000	0.83766	0.549000	0.68633	CGC		0.622	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
ANAPC7	51434	broad.mit.edu	37	12	110820736	110820736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:110820736G>A	ENST00000455511.3	-	7	949	c.949C>T	c.(949-951)Cga>Tga	p.R317*	ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.R317*	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	317					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.R283*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CGCCCTTCTCGTGCCAGTAGG	0.483																																					p.R317X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C949T	12						.						233.0	230.0	231.0					12																	110820736		2203	4300	6503	109305119	SO:0001587	stop_gained	51434	exon7			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.949C>T	12.37:g.110820736G>A	ENSP00000394394:p.Arg317*	Somatic		Capture	Illumina HiSeq	Phase_I	109305119	NM_001137664	Q96AC4|Q96GF4|Q9BU24|Q9NT16	Nonsense_Mutation	SNP	ENST00000455511.3	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	44	11.039428	0.99507	.	.	ENSG00000196510	ENST00000455511;ENST00000450008;ENST00000471602;ENST00000548234	.	.	.	5.89	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-8.4866	14.9894	0.71374	0.0:0.0:0.7271:0.2729	.	.	.	.	X	317;317;10;19	.	ENSP00000402314:R317X	R	-	1	2	ANAPC7	109305119	1.000000	0.71417	0.975000	0.42487	0.768000	0.43524	5.202000	0.65169	0.748000	0.32831	0.655000	0.94253	CGA		0.483	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238	
HECTD4	283450	broad.mit.edu	37	12	112668613	112668613	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:112668613G>A	ENST00000430131.2	-	39	6093	c.4948C>T	c.(4948-4950)Cgt>Tgt	p.R1650C	HECTD4_ENST00000550722.1_Missense_Mutation_p.R1926C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1900C			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1650					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1650C(1)|p.R1900C(1)									ATGAAGGGACGCACAGGATCA	0.498																																					p.R1900C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5698T	12						.						81.0	73.0	75.0					12																	112668613		2057	4224	6281	111152996	SO:0001583	missense	283450	exon39			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4948C>T	12.37:g.112668613G>A	ENSP00000404379:p.Arg1650Cys	Somatic		Capture	Illumina HiSeq	Phase_I	111152996	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	14.79	2.639416	0.47153	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.62364	0.04;0.05;0.03	5.5	4.61	0.57282	.	.	.	.	.	T	0.66327	0.2778	N	0.19112	0.55	0.58432	D	0.99999	D	0.89917	1.0	D	0.74023	0.982	T	0.71547	-0.4560	9	0.87932	D	0	.	14.3327	0.66569	0.0:0.0:0.7167:0.2833	.	1650	Q9Y4D8	K0614_HUMAN	C	1900;1650;1926	ENSP00000366783:R1900C;ENSP00000404379:R1650C;ENSP00000449784:R1926C	ENSP00000366783:R1900C	R	-	1	0	C12orf51	111152996	0.974000	0.33945	0.948000	0.38648	0.171000	0.22731	1.604000	0.36804	1.311000	0.45024	0.655000	0.94253	CGT		0.498	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
OAS3	4940	broad.mit.edu	37	12	113379410	113379410	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:113379410T>C	ENST00000228928.7	+	2	392	c.213T>C	c.(211-213)ggT>ggC	p.G71G	OAS3_ENST00000548514.1_Silent_p.G71G|OAS3_ENST00000546638.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.G71G	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	71	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.G71G(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTCTCAAGGGTGGCTGTGATT	0.552																																					p.G71G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T213C	12						.						83.0	86.0	85.0					12																	113379410		1936	4117	6053	111863793	SO:0001819	synonymous_variant	4940	exon2			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.213T>C	12.37:g.113379410T>C		Somatic		Capture	Illumina HiSeq	Phase_I	111863793	NM_006187	Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																				0.552	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1		
PRB2	653247	broad.mit.edu	37	12	11546067	11546067	+	Silent	SNP	A	A	G	rs372626172	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:11546067A>G	ENST00000389362.4	-	3	980	c.945T>C	c.(943-945)ccT>ccC	p.P315P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	315	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P315P(3)|p.P294P(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGCTGGTTGC	0.607													a|||	32	0.00638978	0.0121	0.0101	5008	,	,		19136	0.002		0.002	False		,,,				2504	0.0051				p.P315P												.	.	6	Substitution - coding silent(6)	large_intestine(4)|prostate(2)	c.T945C	12						.	G		31,4293		1,29,2132	102.0	133.0	122.0		945	-2.6	0.0	12		122	8,8522		0,8,4257	no	coding-synonymous	PRB2	NM_006248.3		1,37,6389	GG,GA,AA		0.0938,0.7169,0.3034		315/417	11546067	39,12815	2162	4265	6427	11437334	SO:0001819	synonymous_variant	653247	exon3			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.945T>C	12.37:g.11546067A>G		Somatic		Capture	Illumina HiSeq	Phase_I	11437334	NM_006248	O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
TPCN1	53373	broad.mit.edu	37	12	113711394	113711394	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:113711394C>A	ENST00000335509.6	+	10	1177	c.863C>A	c.(862-864)cCc>cAc	p.P288H	TPCN1_ENST00000392569.4_Missense_Mutation_p.P220H|TPCN1_ENST00000550785.1_Missense_Mutation_p.P360H|TPCN1_ENST00000541517.1_Missense_Mutation_p.P360H	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	288					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.P288H(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GTGATGATGCCCTCCTACTCC	0.547																																					p.P288H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C863A	12						.						328.0	237.0	268.0					12																	113711394		2203	4300	6503	112195777	SO:0001583	missense	53373	exon10			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.863C>A	12.37:g.113711394C>A	ENSP00000335300:p.Pro288His	Somatic		Capture	Illumina HiSeq	Phase_I	112195777	NM_017901	A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049475	0.93740	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	5.32	5.32	0.75619	Ion transport (1);	0.061554	0.64402	D	0.000003	D	0.99196	0.9721	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.99312	1.0904	10	0.66056	D	0.02	-33.8888	19.0009	0.92834	0.0:1.0:0.0:0.0	.	288;360;288	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	H	288;360;360;220	ENSP00000335300:P288H;ENSP00000448083:P360H;ENSP00000438125:P360H;ENSP00000376350:P220H	ENSP00000335300:P288H	P	+	2	0	TPCN1	112195777	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.415000	0.80131	2.483000	0.83821	0.655000	0.94253	CCC		0.547	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901	
PXN	5829	broad.mit.edu	37	12	120651777	120651777	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:120651777G>A	ENST00000228307.7	-	11	1518	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	PXN_ENST00000424649.2_Silent_p.D425D|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000267257.7_Silent_p.D473D|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000397506.3_Silent_p.D271D|PXN_ENST00000536957.1_Silent_p.D457D|PXN_ENST00000458477.2_Silent_p.D292D	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	459	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D425D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCTTGCCGTCCTTCTCGT	0.597																																					p.D292D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	12						.						36.0	41.0	40.0					12																	120651777		2046	4194	6240	119136160	SO:0001819	synonymous_variant	5829	exon10			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1377C>T	12.37:g.120651777G>A		Somatic		Capture	Illumina HiSeq	Phase_I	119136160	NM_025157	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	CCDS44997.1																																																																																				0.597	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859	
ORAI1	84876	broad.mit.edu	37	12	122079053	122079053	+	Missense_Mutation	SNP	C	C	T	rs368310115		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:122079053C>T	ENST00000330079.7	+	2	609	c.416C>T	c.(415-417)gCg>gTg	p.A139V		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	137					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.A139V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		CACCTGTTTGCGCTCATGATC	0.617																																					p.A139V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416T	12						.	C	VAL/ALA	0,4406		0,0,2203	57.0	58.0	58.0		416	5.5	0.1	12		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	ORAI1	NM_032790.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	139/304	122079053	1,13005	2203	4300	6503	120563436	SO:0001583	missense	84876	exon2			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.416C>T	12.37:g.122079053C>T	ENSP00000328216:p.Ala139Val	Somatic		Capture	Illumina HiSeq	Phase_I	120563436	NM_032790	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925336	0.92319	0.0	1.16E-4	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.58652	0.32;0.32	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77731	0.4174	M	0.85777	2.775	0.80722	D	1	D	0.67145	0.996	P	0.60117	0.869	T	0.81048	-0.1109	10	0.87932	D	0	-31.507	19.8013	0.96509	0.0:1.0:0.0:0.0	.	137	Q96D31	CRCM1_HUMAN	V	139;34	ENSP00000328216:A139V;ENSP00000441198:A34V	ENSP00000328216:A139V	A	+	2	0	ORAI1	120563436	1.000000	0.71417	0.109000	0.21407	0.760000	0.43138	7.776000	0.85560	2.761000	0.94854	0.591000	0.81541	GCG		0.617	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
NCOR2	9612	broad.mit.edu	37	12	124832781	124832781	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:124832781C>T	ENST00000405201.1	-	29	3924	c.3924G>A	c.(3922-3924)aaG>aaA	p.K1308K	NCOR2_ENST00000404621.1_Silent_p.K1298K|NCOR2_ENST00000429285.2_Silent_p.K1298K|NCOR2_ENST00000356219.3_Silent_p.K1315K|NCOR2_ENST00000404121.2_Silent_p.K869K|NCOR2_ENST00000397355.1_Silent_p.K1299K			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1316					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.K1308K(1)|p.K1315K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CATAGGTGCGCTTGGGGGCGG	0.617											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K1315K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3945A	12						.						40.0	48.0	45.0					12																	124832781		2035	4159	6194	123398734	SO:0001819	synonymous_variant	9612	exon31			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3924G>A	12.37:g.124832781C>T		Somatic	1537	Capture	Illumina HiSeq	Phase_I	123398734	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
SCARB1	949	broad.mit.edu	37	12	125279775	125279775	+	Silent	SNP	G	G	A	rs369260422		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:125279775G>A	ENST00000415380.2	-	9	1293	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	SCARB1_ENST00000540495.1_Silent_p.L353L|SCARB1_ENST00000339570.5_Silent_p.L390L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Silent_p.L390L|SCARB1_ENST00000546215.1_Silent_p.L390L|SCARB1_ENST00000376788.1_Silent_p.L290L|SCARB1_ENST00000544327.1_Silent_p.L336L|SCARB1_ENST00000541205.1_Silent_p.L349L			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	390					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.L390L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TAGAGGCTCAGCTGCAGTTTC	0.572																																					p.L390L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1168T	12						.	G	,	0,4406		0,0,2203	158.0	139.0	145.0		1168,1168	3.3	1.0	12		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SCARB1	NM_001082959.1,NM_005505.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	390/507,390/510	125279775	1,13005	2203	4300	6503	123845728	SO:0001819	synonymous_variant	949	exon9			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1168C>T	12.37:g.125279775G>A		Somatic		Capture	Illumina HiSeq	Phase_I	123845728	NM_005505	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37																																																																																					0.572	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505	
PIWIL1	9271	broad.mit.edu	37	12	130839528	130839528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:130839528C>T	ENST00000245255.3	+	11	1539	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	423					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.R423*(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGAAGTGGGACGACTCATTGA	0.383																																					p.R423X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|prostate(1)	c.C1267T	12						.						203.0	191.0	195.0					12																	130839528		2203	4300	6503	129405481	SO:0001587	stop_gained	9271	exon11			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1267C>T	12.37:g.130839528C>T	ENSP00000245255:p.Arg423*	Somatic		Capture	Illumina HiSeq	Phase_I	129405481	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	36	5.971572	0.97162	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.38	1.83	0.25207	.	0.140427	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8838	13.114	0.59289	0.4705:0.5295:0.0:0.0	.	.	.	.	X	423	.	ENSP00000245255:R423X	R	+	1	2	PIWIL1	129405481	0.402000	0.25311	0.037000	0.18230	0.353000	0.29299	1.645000	0.37238	0.076000	0.16826	-0.375000	0.07067	CGA		0.383	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
RIMBP2	23504	broad.mit.edu	37	12	130935837	130935837	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:130935837C>T	ENST00000261655.4	-	5	519	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	RIMBP2_ENST00000536002.1_Missense_Mutation_p.R27Q|RIMBP2_ENST00000535703.1_Missense_Mutation_p.R27Q	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	119					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R119Q(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGAAGGGGCCGGATATATTC	0.547																																					p.R119Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	12						.						54.0	52.0	53.0					12																	130935837		2203	4300	6503	129501790	SO:0001583	missense	23504	exon5			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.356G>A	12.37:g.130935837C>T	ENSP00000261655:p.Arg119Gln	Somatic		Capture	Illumina HiSeq	Phase_I	129501790	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332100	0.24167	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20200	2.09;2.88;2.88	3.5	1.51	0.23008	.	0.676525	0.13158	N	0.409284	T	0.13927	0.0337	L	0.45581	1.43	0.29507	N	0.854485	B;B	0.26258	0.145;0.016	B;B	0.15484	0.013;0.001	T	0.28776	-1.0033	10	0.14252	T	0.57	.	5.1494	0.15002	0.2325:0.6545:0.0:0.113	.	27;119	O15034-2;O15034	.;RIMB2_HUMAN	Q	119;27;27;27	ENSP00000261655:R119Q;ENSP00000440347:R27Q;ENSP00000439159:R27Q	ENSP00000261655:R119Q	R	-	2	0	RIMBP2	129501790	0.989000	0.36119	0.782000	0.31804	0.051000	0.14879	1.390000	0.34464	0.404000	0.25506	0.561000	0.74099	CGG		0.547	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
PUS1	80324	broad.mit.edu	37	12	132425853	132425853	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:132425853G>A	ENST00000376649.3	+	5	1061	c.561G>A	c.(559-561)acG>acA	p.T187T	PUS1_ENST00000542167.2_Silent_p.T134T|PUS1_ENST00000443358.2_Silent_p.T159T|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Silent_p.T159T	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	187					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)	p.T187T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGCGGGTCACGGGCGGGTTTA	0.602																																					p.T187T	Esophageal Squamous(102;671 2009 17384 45666)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G561A	12						.						66.0	54.0	58.0					12																	132425853		2203	4300	6503	130991806	SO:0001819	synonymous_variant	80324	exon5			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.561G>A	12.37:g.132425853G>A		Somatic		Capture	Illumina HiSeq	Phase_I	130991806	NM_025215	A8K877|B3KQC1|Q8WYT2|Q9BU44	Silent	SNP	ENST00000376649.3	37	CCDS9275.2																																																																																				0.602	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215	
IQSEC3	440073	broad.mit.edu	37	12	266849	266849	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:266849G>A	ENST00000538872.1	+	7	2550	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R811Q|IQSEC3_ENST00000382841.2_Missense_Mutation_p.R508Q			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	811	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R508Q(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GACTTCATCCGAAACCTTCGA	0.587																																					p.R811Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2432A	12						.						173.0	134.0	147.0					12																	266849		2203	4300	6503	137110	SO:0001583	missense	440073	exon7			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2432G>A	12.37:g.266849G>A	ENSP00000437554:p.Arg811Gln	Somatic		Capture	Illumina HiSeq	Phase_I	137110	NM_001170738	A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853352	0.91355	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.57595	0.39;0.39;0.39	4.82	4.82	0.62117	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.69823	2.125	0.80722	D	1	D;D	0.59767	0.963;0.986	P;P	0.58873	0.579;0.847	T	0.73892	-0.3839	10	0.72032	D	0.01	.	18.2394	0.89961	0.0:0.0:1.0:0.0	.	811;508	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	Q	811;811;508	ENSP00000437554:R811Q;ENSP00000315662:R811Q;ENSP00000372292:R508Q	ENSP00000315662:R811Q	R	+	2	0	IQSEC3	137110	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	5.758000	0.68776	2.387000	0.81309	0.491000	0.48974	CGA		0.587	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
CACNA2D4	93589	broad.mit.edu	37	12	1919735	1919735	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:1919735G>A	ENST00000382722.5	-	28	2994	c.2632C>T	c.(2632-2634)Ccg>Tcg	p.P878S	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.P814S|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.P23S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P739S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P878S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P853S|CACNA2D4_ENST00000538450.1_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.P814S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	878					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P878S(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGTGTGCACGGCCCATCCACA	0.587																																					p.P878S	Colon(2;101 179 21030 23310 28141)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2632T	12						.						51.0	54.0	53.0					12																	1919735		2126	4154	6280	1789996	SO:0001583	missense	93589	exon28			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2632C>T	12.37:g.1919735G>A	ENSP00000372169:p.Pro878Ser	Somatic		Capture	Illumina HiSeq	Phase_I	1789996	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	1.431	-0.570355	0.03910	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.81078	-1.45	4.09	1.97	0.26223	.	0.525769	0.17964	N	0.156100	T	0.70439	0.3224	L	0.47716	1.5	0.09310	N	1	B;B;B	0.19445	0.017;0.036;0.001	B;B;B	0.23018	0.043;0.021;0.007	T	0.54330	-0.8310	10	0.20046	T	0.44	.	8.1664	0.31228	0.0:0.0:0.5302:0.4698	.	878;878;814	Q7Z3S7-2;Q7Z3S7;Q7Z3S7-4	.;CA2D4_HUMAN;.	S	814;878;878	ENSP00000372169:P878S	ENSP00000280663:P878S	P	-	1	0	CACNA2D4	1789996	0.003000	0.15002	0.022000	0.16811	0.006000	0.05464	0.196000	0.17176	0.888000	0.36160	0.561000	0.74099	CCG		0.587	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0				p.Q252H												.	.	8	Substitution - Missense(8)	endometrium(5)|lung(2)|large_intestine(1)	c.G756C	12						.						35.0	42.0	40.0					12																	2062350		2203	4300	6503	1932611	SO:0001583	missense	196513	exon7			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His	Somatic		Capture	Illumina HiSeq	Phase_I	1932611	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640	
FKBP4	2288	broad.mit.edu	37	12	2907922	2907922	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:2907922C>T	ENST00000001008.4	+	4	631	c.444C>T	c.(442-444)ggC>ggT	p.G148G	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	148					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.G148G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			AGGAAGATGGCGGAATCATTC	0.498																																					p.G148G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	12						.						166.0	150.0	155.0					12																	2907922		2203	4300	6503	2778183	SO:0001819	synonymous_variant	2288	exon4			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.444C>T	12.37:g.2907922C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2778183	NM_002014	D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	37	CCDS8512.1																																																																																				0.498	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1		
CRACR2A	84766	broad.mit.edu	37	12	3763420	3763420	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:3763420C>T	ENST00000252322.1	-	10	1472	c.1004G>A	c.(1003-1005)aGc>aAc	p.S335N	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.S335N|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.S335N	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		335					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S335N(1)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGCTGGAGGCTTTCCAACTG	0.577																																					p.S335N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1004A	12						.						80.0	75.0	76.0					12																	3763420		2203	4300	6503	3633681	SO:0001583	missense	84766	exon10																														ENST00000252322.1:c.1004G>A	12.37:g.3763420C>T	ENSP00000252322:p.Ser335Asn	Somatic		Capture	Illumina HiSeq	Phase_I	3633681	NM_001144959	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	2.125	-0.400408	0.04865	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.21734	1.99;2.51;2.55	4.41	3.5	0.40072	.	0.262182	0.42548	D	0.000684	T	0.17789	0.0427	L	0.47716	1.5	0.19775	N	0.99996	P;B;B	0.34462	0.454;0.302;0.309	B;B;B	0.36186	0.067;0.219;0.143	T	0.13629	-1.0502	10	0.18710	T	0.47	-5.1985	9.4759	0.38871	0.3856:0.6144:0.0:0.0	.	335;335;335	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	N	335	ENSP00000409382:S335N;ENSP00000412496:S335N;ENSP00000252322:S335N	ENSP00000252322:S335N	S	-	2	0	EFCAB4B	3633681	0.299000	0.24426	0.904000	0.35570	0.079000	0.17450	2.927000	0.48900	1.045000	0.40225	0.563000	0.77884	AGC		0.577	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1		
CHD4	1108	broad.mit.edu	37	12	6697051	6697051	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:6697051C>T	ENST00000357008.2	-	24	3693	c.3530G>A	c.(3529-3531)cGt>cAt	p.R1177H	CHD4_ENST00000544040.1_Missense_Mutation_p.R1170H|CHD4_ENST00000544484.1_Missense_Mutation_p.R1174H|CHD4_ENST00000309577.6_Missense_Mutation_p.R1177H|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1177	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1177H(2)		central_nervous_system(2)	2						CACTGACGCACGGGTCACAAA	0.502																																					p.R1177H	Colon(32;586 792 4568 16848 45314)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3530A	12						.						87.0	82.0	84.0					12																	6697051		2203	4300	6503	6567312	SO:0001583	missense	1108	exon24			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3530G>A	12.37:g.6697051C>T	ENSP00000349508:p.Arg1177His	Somatic		Capture	Illumina HiSeq	Phase_I	6567312	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422157	0.62622	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.91	5.91	0.95273	Helicase, C-terminal (1);	0.067970	0.64402	D	0.000014	D	0.97084	0.9047	M	0.82056	2.57	0.44976	D	0.997991	B;D;D	0.56521	0.021;0.976;0.964	B;P;P	0.58077	0.009;0.832;0.487	D	0.96991	0.9722	10	0.59425	D	0.04	.	15.4318	0.75105	0.0:0.9318:0.0:0.0682	.	1177;1177;1170	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	1174;1170;1177;1177;1151	ENSP00000440392:R1174H;ENSP00000440542:R1170H;ENSP00000312419:R1177H;ENSP00000349508:R1177H	ENSP00000312419:R1177H	R	-	2	0	CHD4	6567312	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	4.558000	0.60789	2.802000	0.96397	0.543000	0.68304	CGT		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
GPR162	27239	broad.mit.edu	37	12	6933843	6933843	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:6933843C>T	ENST00000311268.3	+	2	1566	c.779C>T	c.(778-780)tCg>tTg	p.S260L	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S260L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CTGGATGGCTCGGAGTCTGCC	0.627																																					p.S260L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C779T	12						.						52.0	54.0	53.0					12																	6933843		2203	4300	6503	6804104	SO:0001583	missense	27239	exon2			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.779C>T	12.37:g.6933843C>T	ENSP00000311528:p.Ser260Leu	Somatic		Capture	Illumina HiSeq	Phase_I	6804104	NM_019858	Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999506	0.93227	.	.	ENSG00000250510	ENST00000311268	T	0.41400	1.0	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.56232	0.1971	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.60500	-0.7251	9	0.72032	D	0.01	.	17.6497	0.88159	0.0:1.0:0.0:0.0	.	260;260	B7Z3U3;Q16538	.;GP162_HUMAN	L	260	ENSP00000311528:S260L	ENSP00000311528:S260L	S	+	2	0	GPR162	6804104	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.647000	0.83462	2.404000	0.81709	0.491000	0.48974	TCG		0.627	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858	
C1R	715	broad.mit.edu	37	12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-	rs189155429		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:7242010delG	ENST00000542285.1	-	5	793	c.644delC	c.(643-645)cctfs	p.P215fs	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	216	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P230fs*100(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCGCAGGTCAGGGGGGTAGGA	0.597																																					p.P216fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.647delC	12						.						51.0	57.0	55.0					12																	7242010		2062	4194	6256	7133151	SO:0001589	frameshift_variant	715	exon5			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.644delC	12.37:g.7242010delG	ENSP00000438615:p.Pro215fs	Somatic		Capture	Illumina HiSeq	Phase_I	7133151	NM_001733	A6NJQ8|Q68D77|Q8J012	Frame_Shift_Del	DEL	ENST00000542285.1	37																																																																																					0.597	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733	
PHC1	1911	broad.mit.edu	37	12	9072370	9072370	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:9072370C>T	ENST00000543824.1	+	4	465	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433083.2_Intron|PHC1_ENST00000544916.1_Missense_Mutation_p.R45W			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	45					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R45W(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AGCACTGCAGCGGCAGCCCAA	0.502																																					p.R45W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133T	12						.						54.0	52.0	53.0					12																	9072370		2203	4300	6503	8963637	SO:0001583	missense	1911	exon3			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.133C>T	12.37:g.9072370C>T	ENSP00000440674:p.Arg45Trp	Somatic		Capture	Illumina HiSeq	Phase_I	8963637	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490545	0.64074	.	.	ENSG00000111752	ENST00000538657;ENST00000543824;ENST00000251757;ENST00000544916;ENST00000544539;ENST00000539063;ENST00000541181	T;T;T	0.47869	0.83;0.83;0.83	5.44	3.39	0.38822	.	0.000000	0.64402	D	0.000002	T	0.65091	0.2658	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.70310	-0.4907	10	0.87932	D	0	-32.8562	14.7654	0.69634	0.3487:0.6513:0.0:0.0	.	45;45	B4DF21;P78364	.;PHC1_HUMAN	W	45	ENSP00000440674:R45W;ENSP00000251757:R45W;ENSP00000437659:R45W	ENSP00000251757:R45W	R	+	1	2	PHC1	8963637	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.256000	0.43231	1.282000	0.44496	0.655000	0.94253	CGG		0.502	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426	
PHC1	1911	broad.mit.edu	37	12	9089855	9089855	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:9089855G>A	ENST00000543824.1	+	14	2893	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	PHC1_ENST00000536844.1_Missense_Mutation_p.R460H|PHC1_ENST00000433083.2_Missense_Mutation_p.R809H|PHC1_ENST00000544916.1_Missense_Mutation_p.R854H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	854					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R854H(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GCTCGCGTTCGCAGGCGTGGA	0.537																																					p.R854H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2561A	12						.						27.0	27.0	27.0					12																	9089855		2202	4294	6496	8981122	SO:0001583	missense	1911	exon13			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2561G>A	12.37:g.9089855G>A	ENSP00000440674:p.Arg854His	Somatic		Capture	Illumina HiSeq	Phase_I	8981122	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860889	0.71834	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.55413	1.4;1.4;1.36;1.4;0.52	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	L	0.43152	1.355	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.68040	-0.5514	10	0.72032	D	0.01	-1.6997	19.1776	0.93609	0.0:0.0:1.0:0.0	.	854	P78364	PHC1_HUMAN	H	854;854;809;854;460	ENSP00000440674:R854H;ENSP00000251757:R854H;ENSP00000399194:R809H;ENSP00000437659:R854H;ENSP00000440488:R460H	ENSP00000251757:R854H	R	+	2	0	PHC1	8981122	1.000000	0.71417	0.920000	0.36463	0.964000	0.63967	4.890000	0.63178	2.624000	0.88883	0.655000	0.94253	CGC		0.537	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426	
PRB3	5544	broad.mit.edu	37	12	11420935	11420935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:11420935delG	ENST00000279573.7	-	3	383	c.248delC	c.(247-249)ccafs	p.P83fs	PRB3_ENST00000538488.1_Frame_Shift_Del_p.P83fs|PRB3_ENST00000381842.3_Frame_Shift_Del_p.P83fs|PRB3_ENST00000440870.3_5'UTR			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	83	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.P83fs*>227(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TCCTCCTTGTGGGGGTGGTCC	0.627																																					p.P83fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.248delC	12						.						143.0	173.0	163.0					12																	11420935		2136	4262	6398	11312202	SO:0001589	frameshift_variant	5544	exon3					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.248delC	12.37:g.11420935delG	ENSP00000279573:p.Pro83fs	Somatic		Capture	Illumina HiSeq	Phase_I	11312202	NM_006249	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Frame_Shift_Del	DEL	ENST00000279573.7	37																																																																																					0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249	
GUCY2C	2984	broad.mit.edu	37	12	14813943	14813943	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:14813943G>A	ENST00000261170.3	-	11	1472	c.1336C>T	c.(1336-1338)Ctc>Ttc	p.L446F		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	446					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.L446F(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACGAGCAGGAGCAGCACCACA	0.547																																					p.L446F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1336T	12						.						106.0	101.0	103.0					12																	14813943		2203	4300	6503	14705210	SO:0001583	missense	2984	exon11				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1336C>T	12.37:g.14813943G>A	ENSP00000261170:p.Leu446Phe	Somatic		Capture	Illumina HiSeq	Phase_I	14705210	NM_004963	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496103	0.26774	.	.	ENSG00000070019	ENST00000261170	D	0.82619	-1.63	5.28	-4.72	0.03269	.	0.516685	0.21152	N	0.079304	T	0.69124	0.3076	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.57877	-0.7735	10	0.66056	D	0.02	.	5.1887	0.15197	0.0726:0.4303:0.1515:0.3456	.	446	P25092	GUC2C_HUMAN	F	446	ENSP00000261170:L446F	ENSP00000261170:L446F	L	-	1	0	GUCY2C	14705210	0.001000	0.12720	0.000000	0.03702	0.065000	0.16274	-0.765000	0.04730	-0.369000	0.08028	0.591000	0.81541	CTC		0.547	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		
ART4	420	broad.mit.edu	37	12	14993931	14993931	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:14993931G>A	ENST00000228936.4	-	2	682	c.301C>T	c.(301-303)Cac>Tac	p.H101Y	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	101					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)	p.H101Y(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAGGCTAAGTGGGCTTTTTGC	0.403																																					p.H101Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301T	12						.						146.0	140.0	142.0					12																	14993931		2203	4300	6503	14885198	SO:0001583	missense	420	exon2			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.301C>T	12.37:g.14993931G>A	ENSP00000228936:p.His101Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	14885198	NM_021071	Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	G	1.633	-0.518535	0.04171	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.07908	3.15;3.15	4.35	1.55	0.23275	.	0.367618	0.31847	N	0.006967	T	0.07548	0.0190	L	0.60455	1.87	0.09310	N	0.999997	P;P	0.39696	0.683;0.683	B;B	0.35655	0.207;0.207	T	0.31888	-0.9927	10	0.18710	T	0.47	-4.1478	8.2384	0.31640	0.2735:0.0:0.7265:0.0	.	101;101	A8K6J7;Q93070	.;NAR4_HUMAN	Y	101;84	ENSP00000228936:H101Y;ENSP00000405689:H84Y	ENSP00000228936:H101Y	H	-	1	0	ART4	14885198	0.710000	0.27896	0.010000	0.14722	0.009000	0.06853	1.116000	0.31221	0.364000	0.24374	-0.251000	0.11542	CAC		0.403	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	
PIK3C2G	5288	broad.mit.edu	37	12	18800945	18800945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:18800945G>T	ENST00000266497.5	+	31	4359	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.G1482*|PIK3C2G_ENST00000433979.1_Nonsense_Mutation_p.G1441*			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1441					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.G1441*(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTATCCATTAGGAAACAGTAT	0.343																																					p.G1441X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4321T	12						.						90.0	85.0	87.0					12																	18800945		1844	4090	5934	18692212	SO:0001587	stop_gained	5288	exon32			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.4321G>T	12.37:g.18800945G>T	ENSP00000266497:p.Gly1441*	Somatic		Capture	Illumina HiSeq	Phase_I	18692212	NM_004570	A1L3U0	Nonsense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	41	8.789898	0.98954	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	4.06	4.06	0.47325	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.43555	D	0.995865	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.4999	14.5669	0.68182	0.0:0.0:1.0:0.0	.	.	.	.	X	1441;1441;1482	.	ENSP00000266497:G1441X	G	+	1	0	PIK3C2G	18692212	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.612000	0.67681	2.553000	0.86117	0.563000	0.77884	GGA		0.343	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
SLCO1B1	10599	broad.mit.edu	37	12	21327544	21327544	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:21327544T>C	ENST00000256958.2	+	4	356	c.260T>C	c.(259-261)tTt>tCt	p.F87S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	87					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.F87S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTGAGTTACTTTGGATCCAAA	0.358																																					p.F87S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T260C	12						.						188.0	169.0	175.0					12																	21327544		2203	4300	6503	21218811	SO:0001583	missense	10599	exon4				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.260T>C	12.37:g.21327544T>C	ENSP00000256958:p.Phe87Ser	Somatic		Capture	Illumina HiSeq	Phase_I	21218811	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.533447	0.64972	.	.	ENSG00000134538	ENST00000256958	T	0.58358	0.34	3.66	2.47	0.30058	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049461	0.85682	D	0.000000	T	0.76652	0.4017	M	0.94142	3.5	0.45979	D	0.998797	D	0.89917	1.0	D	0.85130	0.997	T	0.78768	-0.2075	10	0.87932	D	0	.	9.348	0.38120	0.1606:0.0:0.0:0.8394	.	87	Q9Y6L6	SO1B1_HUMAN	S	87	ENSP00000256958:F87S	ENSP00000256958:F87S	F	+	2	0	SLCO1B1	21218811	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.530000	0.60595	0.551000	0.29008	0.254000	0.18369	TTT		0.358	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
GYS2	2998	broad.mit.edu	37	12	21715926	21715926	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:21715926C>A	ENST00000261195.2	-	7	1242	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	330					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.G330W(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATACCTCCCAGCAATGAAA	0.368																																					p.G330W	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988T	12						.						111.0	111.0	111.0					12																	21715926		2203	4300	6503	21607193	SO:0001583	missense	2998	exon7				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.988G>T	12.37:g.21715926C>A	ENSP00000261195:p.Gly330Trp	Somatic		Capture	Illumina HiSeq	Phase_I	21607193	NM_021957	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557247	0.86231	.	.	ENSG00000111713	ENST00000261195	D	0.84589	-1.87	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95649	0.8705	10	0.87932	D	0	-27.4789	18.7322	0.91739	0.0:1.0:0.0:0.0	.	330	P54840	GYS2_HUMAN	W	330	ENSP00000261195:G330W	ENSP00000261195:G330W	G	-	1	0	GYS2	21607193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.614000	0.82996	2.650000	0.89964	0.655000	0.94253	GGG		0.368	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
PRPF40B	25766	broad.mit.edu	37	12	50037535	50037535	+	Splice_Site	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:50037535G>A	ENST00000380281.1	+	23	2443	c.2379G>A	c.(2377-2379)tcG>tcA	p.S793S	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Splice_Site_p.S780S|PRPF40B_ENST00000548825.2_Splice_Site_p.S814S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	793					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.S793S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GACACAAGTCGGTGAGTGAAG	0.468																																					p.S793S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2379A	12						.						68.0	67.0	67.0					12																	50037535		2203	4300	6503	48323802	SO:0001630	splice_region_variant	25766	exon23			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2379+1G>A	12.37:g.50037535G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48323802	NM_001031698	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37																																																																																					0.468	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	Silent
LIMA1	51474	broad.mit.edu	37	12	50616100	50616100	+	Missense_Mutation	SNP	C	C	T	rs146061384		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:50616100C>T	ENST00000341247.4	-	4	483	c.334G>A	c.(334-336)Gct>Act	p.A112T	LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.A112T|LIMA1_ENST00000552909.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	112					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.A112T(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAGAAGCAGCGTGGCTTGTC	0.552																																					p.A112T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	12						.	C	THR/ALA,,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	211.0	156.0	175.0		334,,334	-10.5	0.0	12	dbSNP_134	175	0,8600		0,0,4300	no	missense,utr-5,missense	LIMA1	NM_001113546.1,NM_001113547.1,NM_016357.4	58,,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,benign	112/761,,112/760	50616100	1,13005	2203	4300	6503	48902367	SO:0001583	missense	51474	exon4			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.334G>A	12.37:g.50616100C>T	ENSP00000340184:p.Ala112Thr	Somatic		Capture	Illumina HiSeq	Phase_I	48902367	NM_001113546	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.152724	0.01700	2.27E-4	0.0	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691	D;T	0.84516	-1.86;-1.12	5.65	-10.5	0.00291	.	1.190080	0.05873	N	0.624944	T	0.51822	0.1697	N	0.02539	-0.55	0.24168	N	0.995635	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50558	-0.8814	10	0.07990	T	0.79	.	1.589	0.02650	0.2015:0.3405:0.2276:0.2303	.	121;112	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	T	112	ENSP00000378400:A112T;ENSP00000340184:A112T	ENSP00000340184:A112T	A	-	1	0	LIMA1	48902367	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.574000	0.05868	-1.498000	0.01824	-1.202000	0.01658	GCT		0.552	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357	
CSRNP2	81566	broad.mit.edu	37	12	51457648	51457648	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:51457648G>A	ENST00000228515.1	-	5	1810	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	505					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P505S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGGCTTGAGGGGGACCAGGAA	0.537																																					p.P505S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1513T	12						.						80.0	84.0	83.0					12																	51457648		2203	4300	6503	49743915	SO:0001583	missense	81566	exon5			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1513C>T	12.37:g.51457648G>A	ENSP00000228515:p.Pro505Ser	Somatic		Capture	Illumina HiSeq	Phase_I	49743915	NM_030809		Missense_Mutation	SNP	ENST00000228515.1	37	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587398	0.46110	.	.	ENSG00000110925	ENST00000228515	T	0.59906	0.23	4.7	3.81	0.43845	.	0.373533	0.23558	N	0.046885	T	0.38026	0.1025	N	0.19112	0.55	0.28854	N	0.895869	B	0.09022	0.002	B	0.06405	0.002	T	0.21690	-1.0238	10	0.35671	T	0.21	-11.6345	7.399	0.26952	0.1945:0.0:0.8055:0.0	.	505	Q9H175	CSRN2_HUMAN	S	505	ENSP00000228515:P505S	ENSP00000228515:P505S	P	-	1	0	CSRNP2	49743915	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	3.336000	0.52113	1.355000	0.45865	-0.266000	0.10368	CCC		0.537	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1		
KRT75	9119	broad.mit.edu	37	12	52825412	52825412	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:52825412G>A	ENST00000252245.5	-	4	1005	c.785C>T	c.(784-786)gCt>gTt	p.A262V		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	262	Coil 1B.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A262V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CATATAGGCAGCATCTACGTC	0.502																																					p.A262V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C785T	12						.						162.0	139.0	146.0					12																	52825412		2203	4300	6503	51111679	SO:0001583	missense	9119	exon4			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.785C>T	12.37:g.52825412G>A	ENSP00000252245:p.Ala262Val	Somatic		Capture	Illumina HiSeq	Phase_I	51111679	NM_004693	B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048326	0.19827	.	.	ENSG00000170454	ENST00000252245	D	0.89270	-2.49	6.07	1.12	0.20585	Filament (1);	0.736265	0.11684	N	0.539553	D	0.93930	0.8057	H	0.97365	3.99	0.09310	N	1	P	0.41041	0.736	P	0.44673	0.457	D	0.87563	0.2473	10	0.87932	D	0	.	12.9782	0.58549	0.0:0.3146:0.611:0.0744	.	262	O95678	K2C75_HUMAN	V	262	ENSP00000252245:A262V	ENSP00000252245:A262V	A	-	2	0	KRT75	51111679	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.896000	0.04114	-0.055000	0.13244	-0.955000	0.02649	GCT		0.502	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
KRT4	3851	broad.mit.edu	37	12	53201573	53201573	+	Missense_Mutation	SNP	G	G	A	rs372301476		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:53201573G>A	ENST00000551956.1	-	7	1693	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	KRT4_ENST00000293774.4_Missense_Mutation_p.R475C|KRT4_ENST00000458244.2_Missense_Mutation_p.R381C			P19013	K2C4_HUMAN	keratin 4	415	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R475C(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGCTCTACGCGCTTGCTGTGG	0.557																																					p.R475C	Pancreas(190;284 2995 41444 45903)											.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C1423T	12						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	83.0	85.0		1201	3.5	0.9	12		85	0,8600		0,0,4300	no	missense	KRT4	NM_002272.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	401/521	53201573	1,13005	2203	4300	6503	51487840	SO:0001583	missense	3851	exon7				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1201C>T	12.37:g.53201573G>A	ENSP00000448220:p.Arg401Cys	Somatic		Capture	Illumina HiSeq	Phase_I	51487840	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898951	0.72754	2.27E-4	0.0	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.88741	-2.42;-2.42;-2.42	5.47	3.54	0.40534	Filament (1);	0.665977	0.13461	N	0.386132	D	0.88720	0.6513	L	0.34521	1.04	0.40782	D	0.983188	D	0.61080	0.989	P	0.59595	0.86	D	0.87468	0.2412	10	0.87932	D	0	.	8.2945	0.31978	0.1415:0.1289:0.7296:0.0	.	415	P19013	K2C4_HUMAN	C	401;475;381	ENSP00000448220:R401C;ENSP00000293774:R475C;ENSP00000387904:R381C	ENSP00000293774:R475C	R	-	1	0	KRT4	51487840	0.731000	0.28111	0.872000	0.34217	0.826000	0.46750	2.345000	0.44018	1.459000	0.47892	0.561000	0.74099	CGC		0.557	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
NCKAP1L	3071	broad.mit.edu	37	12	54912749	54912749	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:54912749G>A	ENST00000293373.6	+	15	1551	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R441H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	491					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R491H(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GACTGGTTCCGCCTACAGGTA	0.388																																					p.R441H												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G1322A	12						.						110.0	114.0	113.0					12																	54912749		2203	4300	6503	53199016	SO:0001583	missense	3071	exon15			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1472G>A	12.37:g.54912749G>A	ENSP00000293373:p.Arg491His	Somatic		Capture	Illumina HiSeq	Phase_I	53199016	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	34	5.366913	0.95900	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.37584	1.19;1.19	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.81802	2.56	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.66881	-0.5811	10	0.87932	D	0	-15.0968	17.8571	0.88767	0.0:0.0:1.0:0.0	.	491	P55160	NCKPL_HUMAN	H	491;441	ENSP00000293373:R491H;ENSP00000445596:R441H	ENSP00000293373:R491H	R	+	2	0	NCKAP1L	53199016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.515000	0.98015	2.826000	0.97356	0.561000	0.74099	CGC		0.388	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
OR6C4	341418	broad.mit.edu	37	12	55945939	55945939	+	Stop_Codon_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:55945939delA	ENST00000394256.2	+	0	957				RP11-110A12.2_ENST00000555138.1_RNA|AC009779.1_ENST00000584743.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*310fs?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GTGAAACTTTAAAAAAGGAGA	0.313																																					p.X310												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.929delA	12						.						18.0	20.0	19.0					12																	55945939		2175	4277	6452	54232206	SO:0001567	stop_retained_variant	341418	exon1			BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	Exception_encountered	12.37:g.55945939delA		Somatic		Capture	Illumina HiSeq	Phase_I	54232206	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Frame_Shift_Del	DEL	ENST00000394256.2	37	CCDS31827.1																																																																																				0.313	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1		
GDF11	10220	broad.mit.edu	37	12	56143562	56143562	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:56143562C>A	ENST00000257868.5	+	3	1157	c.1120C>A	c.(1120-1122)Ccc>Acc	p.P374T		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	374					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)		p.P374T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGTTGTACCCCCACCAAGAT	0.537																																					p.P374T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1120A	12						.						172.0	167.0	169.0					12																	56143562		2203	4300	6503	54429829	SO:0001583	missense	10220	exon3			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.1120C>A	12.37:g.56143562C>A	ENSP00000257868:p.Pro374Thr	Somatic		Capture	Illumina HiSeq	Phase_I	54429829	NM_005811	Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	CCDS8891.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419874	0.62622	.	.	ENSG00000135414	ENST00000257868	D	0.87103	-2.21	5.3	5.3	0.74995	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96134	0.8740	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97543	1.0087	10	0.87932	D	0	-10.9007	16.8328	0.85949	0.0:1.0:0.0:0.0	.	374	O95390	GDF11_HUMAN	T	374	ENSP00000257868:P374T	ENSP00000257868:P374T	P	+	1	0	GDF11	54429829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.644000	0.89710	0.561000	0.74099	CCC		0.537	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3		
TMEM194A	23306	broad.mit.edu	37	12	57457953	57457953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:57457953C>T	ENST00000300128.4	-	6	678	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	TMEM194A_ENST00000379391.3_Missense_Mutation_p.V146I	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	219						integral component of membrane (GO:0016021)		p.V146I(1)|p.V219I(1)		endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACCAGGATGACGTAAATGGGA	0.358																																					p.V146I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G436A	12						.						61.0	59.0	60.0					12																	57457953		2203	4300	6503	55744220	SO:0001583	missense	23306	exon5			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.655G>A	12.37:g.57457953C>T	ENSP00000300128:p.Val219Ile	Somatic		Capture	Illumina HiSeq	Phase_I	55744220	NM_015257	Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239090	0.22711	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.40225	1.04;1.04	5.71	-0.0584	0.13797	Domain of unknown function DUF2215 (1);	0.603710	0.17556	N	0.169983	T	0.23572	0.0570	N	0.24115	0.695	0.27027	N	0.964335	B;B	0.18166	0.026;0.003	B;B	0.12156	0.007;0.003	T	0.25047	-1.0143	10	0.12430	T	0.62	-3.3706	10.3275	0.43803	0.0:0.5821:0.0:0.4179	.	219;146	O14524;O14524-2	T194A_HUMAN;.	I	146;219	ENSP00000368701:V146I;ENSP00000300128:V219I	ENSP00000300128:V219I	V	-	1	0	TMEM194A	55744220	0.687000	0.27671	0.998000	0.56505	0.999000	0.98932	-0.058000	0.11750	0.046000	0.15833	0.650000	0.86243	GTC		0.358	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257	
LRP1	4035	broad.mit.edu	37	12	57603500	57603500	+	Silent	SNP	C	C	T	rs113975567	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:57603500C>T	ENST00000243077.3	+	80	12754	c.12288C>T	c.(12286-12288)gaC>gaT	p.D4096D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4096					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D4096E(1)|p.D4096D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCAGCATCGACGTCTTTGAGG	0.567																																					p.D4096D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	urinary_tract(1)|large_intestine(1)	c.C12288T	12						.	C		2,4404	4.2+/-10.8	0,2,2201	119.0	102.0	108.0		12288	-5.5	0.9	12	dbSNP_132	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1	NM_002332.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		4096/4545	57603500	3,13003	2203	4300	6503	55889767	SO:0001819	synonymous_variant	4035	exon80			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12288C>T	12.37:g.57603500C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55889767	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.567	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
ARHGEF25	115557	broad.mit.edu	37	12	58009054	58009054	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:58009054G>A	ENST00000286494.4	+	11	1455	c.995G>A	c.(994-996)cGc>cAc	p.R332H	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R371H|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	332	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R332H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GTGCCCAAGCGCTGCAACGAT	0.567																																					p.R371H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1112A	12						.						56.0	48.0	51.0					12																	58009054		2203	4300	6503	56295321	SO:0001583	missense	115557	exon12				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.995G>A	12.37:g.58009054G>A	ENSP00000286494:p.Arg332His	Somatic		Capture	Illumina HiSeq	Phase_I	56295321	NM_001111270	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	29.3	4.994821	0.93167	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.62788	0.0;0.0	4.48	4.48	0.54585	Dbl homology (DH) domain (5);	0.000000	0.36703	N	0.002449	T	0.72455	0.3462	L	0.48260	1.515	0.80722	D	1	P;D	0.76494	0.947;0.999	B;D	0.71656	0.336;0.974	T	0.75436	-0.3318	10	0.87932	D	0	.	15.0483	0.71844	0.0:0.0:1.0:0.0	.	371;332	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	H	371;332	ENSP00000335560:R371H;ENSP00000286494:R332H	ENSP00000286494:R332H	R	+	2	0	ARHGEF25	56295321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.304000	0.78882	2.503000	0.84419	0.561000	0.74099	CGC		0.567	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483	
B4GALNT1	2583	broad.mit.edu	37	12	58025103	58025103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:58025103delC	ENST00000341156.4	-	3	847	c.263delG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000550764.1_Frame_Shift_Del_p.G88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Del_p.G88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Del_p.G88fs|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGGGGGAGGCCCCCCCCACT	0.592																																					p.G88fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.263delG	12						.						74.0	85.0	81.0					12																	58025103		2203	4300	6503	56311370	SO:0001589	frameshift_variant	2583	exon3			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.263delG	12.37:g.58025103delC	ENSP00000341562:p.Gly88fs	Somatic		Capture	Illumina HiSeq	Phase_I	56311370	NM_001478	B4DE26|Q8N636	Frame_Shift_Del	DEL	ENST00000341156.4	37	CCDS8950.1																																																																																				0.592	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478	
GRIP1	23426	broad.mit.edu	37	12	66765694	66765694	+	Missense_Mutation	SNP	G	G	A	rs200171461	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:66765694G>A	ENST00000398016.3	-	22	2704	c.2636C>T	c.(2635-2637)tCg>tTg	p.S879L	GRIP1_ENST00000286445.7_Missense_Mutation_p.S916L|GRIP1_ENST00000359742.4_Missense_Mutation_p.S931L	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.S879L(2)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGTGCTCCCCGACATGATTGT	0.517													G|||	4	0.000798722	0.0	0.0	5008	,	,		19646	0.004		0.0	False		,,,				2504	0.0				p.S864L												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C2591T	12						.						46.0	50.0	49.0					12																	66765694		2000	4179	6179	65051961	SO:0001583	missense	23426	exon21			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2636C>T	12.37:g.66765694G>A	ENSP00000381098:p.Ser879Leu	Somatic		Capture	Illumina HiSeq	Phase_I	65051961	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	15.69|15.69	2.909021|2.909021	0.52439|0.52439	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.78595	.|-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	6.07|6.07	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72526|0.72526	0.3471|0.3471	M|M	0.62723|0.62723	1.935|1.935	0.50632|0.50632	D|D	0.999889|0.999889	.|B;B;B;B	.|0.32829	.|0.103;0.386;0.147;0.169	.|B;B;B;B	.|0.22753	.|0.012;0.018;0.021;0.041	T|T	0.70868|0.70868	-0.4755|-0.4755	5|9	.|.	.|.	.|.	-8.9826|-8.9826	16.2806|16.2806	0.82678|0.82678	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.	.|864;931;879;916	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	W|L	731|879;931;916;864;823;756	.|ENSP00000381098:S879L;ENSP00000352780:S931L;ENSP00000286445:S916L;ENSP00000446047:S864L;ENSP00000446024:S823L;ENSP00000446011:S756L	.|.	R|S	-|-	1|2	2|0	GRIP1|GRIP1	65051961|65051961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	7.442000|7.442000	0.80503|0.80503	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.517	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
OSBPL8	114882	broad.mit.edu	37	12	76752586	76752586	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:76752586G>A	ENST00000261183.3	-	22	2813	c.2334C>T	c.(2332-2334)agC>agT	p.S778S	OSBPL8_ENST00000393250.4_Silent_p.S736S|OSBPL8_ENST00000393249.2_Silent_p.S736S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	778					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.S778S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTTGGGGACGCTAACCTAAA	0.388																																					p.S778S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2334T	12						.						163.0	146.0	152.0					12																	76752586		2203	4300	6503	75276717	SO:0001819	synonymous_variant	114882	exon22			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2334C>T	12.37:g.76752586G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75276717	NM_020841	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	ENST00000261183.3	37	CCDS31862.1																																																																																				0.388	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	
E2F7	144455	broad.mit.edu	37	12	77427730	77427730	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:77427730C>A	ENST00000322886.7	-	8	1451	c.1216G>T	c.(1216-1218)Gct>Tct	p.A406S	E2F7_ENST00000416496.2_Missense_Mutation_p.A406S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	406					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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)|transcription corepressor activity (GO:0003714)	p.A406S(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CCATGGCGAGCCAGCTTCTGT	0.443																																					p.A406S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1216T	12						.						117.0	105.0	109.0					12																	77427730		2203	4300	6503	75951861	SO:0001583	missense	144455	exon8			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1216G>T	12.37:g.77427730C>A	ENSP00000323246:p.Ala406Ser	Somatic		Capture	Illumina HiSeq	Phase_I	75951861	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275014	0.23307	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.17213	2.55;2.29;2.29	6.17	3.04	0.35103	.	0.707576	0.15152	N	0.277641	T	0.12561	0.0305	L	0.46157	1.445	0.24756	N	0.99296	B	0.13594	0.008	B	0.08055	0.003	T	0.34279	-0.9835	10	0.12766	T	0.61	-7.3967	6.0219	0.19634	0.3647:0.4808:0.0:0.1544	.	406	Q96AV8	E2F7_HUMAN	S	406	ENSP00000323246:A406S;ENSP00000393639:A406S;ENSP00000448245:A406S	ENSP00000323246:A406S	A	-	1	0	E2F7	75951861	0.125000	0.22332	1.000000	0.80357	0.985000	0.73830	0.165000	0.16564	0.909000	0.36697	-0.150000	0.13652	GCT		0.443	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
LRRIQ1	84125	broad.mit.edu	37	12	85450894	85450894	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:85450894G>T	ENST00000393217.2	+	8	2384	c.2323G>T	c.(2323-2325)Gcc>Tcc	p.A775S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	775								p.A775S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAATGCCCAGCCAACATGAC	0.353																																					p.A775S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2323T	12						.						110.0	126.0	120.0					12																	85450894		2203	4300	6503	83975025	SO:0001583	missense	84125	exon8			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2323G>T	12.37:g.85450894G>T	ENSP00000376910:p.Ala775Ser	Somatic		Capture	Illumina HiSeq	Phase_I	83975025	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492558	0.26774	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55052	0.54	5.56	4.66	0.58398	.	0.378790	0.22047	N	0.065365	T	0.30039	0.0752	N	0.02345	-0.59	0.24982	N	0.991593	P;P	0.47106	0.89;0.89	B;B	0.42692	0.395;0.272	T	0.13202	-1.0518	10	0.27785	T	0.31	.	14.4379	0.67296	0.0:0.1526:0.8474:0.0	.	775;750	Q96JM4;C9JI57	LRIQ1_HUMAN;.	S	775;750;775	ENSP00000376910:A775S	ENSP00000256007:A775S	A	+	1	0	LRRIQ1	83975025	0.892000	0.30473	0.656000	0.29637	0.132000	0.20833	1.225000	0.32551	1.305000	0.44909	0.591000	0.81541	GCC		0.353	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
ANKS1B	56899	broad.mit.edu	37	12	100169385	100169385	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:100169385T>A	ENST00000547776.2	-	7	901	c.902A>T	c.(901-903)gAt>gTt	p.D301V	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D301V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	301						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.D301V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGTGTTGCATCTTCCTGTAC	0.378																																					p.D301V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A902T	12						.						149.0	136.0	140.0					12																	100169385		1870	4106	5976	98693516	SO:0001583	missense	56899	exon7			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.902A>T	12.37:g.100169385T>A	ENSP00000449629:p.Asp301Val	Somatic		Capture	Illumina HiSeq	Phase_I	98693516	NM_152788	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	T	4.372	0.068656	0.08436	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.46063	0.99;0.99;0.88	5.86	3.52	0.40303	.	0.577060	0.17880	N	0.158889	T	0.23572	0.0570	L	0.29908	0.895	0.80722	D	1	B;B	0.33238	0.403;0.033	B;B	0.25405	0.06;0.021	T	0.05162	-1.0902	9	.	.	.	-7.8632	4.8402	0.13487	0.0:0.3133:0.0:0.6867	.	267;301	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	V	301;301;267	ENSP00000449629:D301V;ENSP00000331381:D301V;ENSP00000449894:D267V	.	D	-	2	0	ANKS1B	98693516	0.958000	0.32768	0.813000	0.32504	0.020000	0.10135	1.757000	0.38400	1.045000	0.40225	0.528000	0.53228	GAT		0.378	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
NOC4L	79050	broad.mit.edu	37	12	132629433	132629433	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr12:132629433G>A	ENST00000330579.1	+	2	193	c.152G>A	c.(151-153)cGc>cAc	p.R51H	DDX51_ENST00000397333.3_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	51					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R51H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GAAGCAGTCCGCACGTGCAGC	0.667																																					p.R51H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G152A	12						.						37.0	36.0	36.0					12																	132629433		2195	4293	6488	131195386	SO:0001583	missense	79050	exon2				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.152G>A	12.37:g.132629433G>A	ENSP00000328854:p.Arg51His	Somatic		Capture	Illumina HiSeq	Phase_I	131195386	NM_024078	Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320055	0.60634	.	.	ENSG00000184967	ENST00000330579	T	0.65916	-0.18	3.78	-3.13	0.05266	Armadillo-like helical (1);	0.527985	0.20160	N	0.097961	T	0.36663	0.0975	N	0.12961	0.28	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21211	-1.0252	10	0.17832	T	0.49	-17.4695	11.0764	0.48034	0.5004:0.0:0.4996:0.0	.	51	Q9BVI4	NOC4L_HUMAN	H	51	ENSP00000328854:R51H	ENSP00000328854:R51H	R	+	2	0	NOC4L	131195386	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	0.389000	0.20751	-0.614000	0.05687	0.313000	0.20887	CGC		0.667	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078	
ARL11	115761	broad.mit.edu	37	13	50204775	50204776	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:50204775_50204776insG	ENST00000282026.1	+	2	527_528	c.192_193insG	c.(193-195)gggfs	p.G65fs	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	65					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.Q67fs*27(1)		kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TCTGGGACGTTGGGGGGCAGGC	0.604																																					p.V64fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.192_193insG	13						.																																			49102777	SO:0001589	frameshift_variant	115761	exon2			AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.198dupG	13.37:g.50204781_50204781dupG	ENSP00000282026:p.Gly65fs	Somatic		Capture	Illumina HiSeq	Phase_I	49102776	NM_138450		Frame_Shift_Ins	INS	ENST00000282026.1	37	CCDS9419.1																																																																																				0.604	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450	
TPP2	7174	broad.mit.edu	37	13	103288708	103288708	+	Silent	SNP	C	C	T	rs377541134		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:103288708C>T	ENST00000376065.4	+	13	1680	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	TPP2_ENST00000376052.3_Silent_p.G548G	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	548					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.G548G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGATCATGGCGTTGGCATTG	0.428																																					p.G548G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1644T	13						.	C		0,4406		0,0,2203	100.0	88.0	92.0		1644	-12.1	0.5	13		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TPP2	NM_003291.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		548/1250	103288708	1,13005	2203	4300	6503	102086709	SO:0001819	synonymous_variant	7174	exon13			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1644C>T	13.37:g.103288708C>T		Somatic		Capture	Illumina HiSeq	Phase_I	102086709	NM_003291	Q5VZU8	Silent	SNP	ENST00000376065.4	37	CCDS9502.1																																																																																				0.428	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
SLC10A2	6555	broad.mit.edu	37	13	103701788	103701788	+	Missense_Mutation	SNP	G	G	A	rs145541774		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:103701788G>A	ENST00000245312.3	-	5	1366	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	257					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.T257M(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AAAAGCAACCGTTCGGCACCT	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16304	0.0		0.0	False		,,,				2504	0.0				p.T257M												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.C770T	13						.	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	96.0	74.0	81.0		770	5.7	0.6	13	dbSNP_134	81	0,8600		0,0,4300	yes	missense	SLC10A2	NM_000452.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	257/349	103701788	2,13004	2203	4300	6503	102499789	SO:0001583	missense	6555	exon5			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.770C>T	13.37:g.103701788G>A	ENSP00000245312:p.Thr257Met	Somatic		Capture	Illumina HiSeq	Phase_I	102499789	NM_000452	A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	CCDS9506.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.74	3.687681	0.68157	4.54E-4	0.0	ENSG00000125255	ENST00000245312	T	0.75938	-0.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89842	0.6832	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91125	0.4933	10	0.87932	D	0	-15.9881	20.181	0.98201	0.0:0.0:1.0:0.0	.	257	Q12908	NTCP2_HUMAN	M	257	ENSP00000245312:T257M	ENSP00000245312:T257M	T	-	2	0	SLC10A2	102499789	1.000000	0.71417	0.563000	0.28383	0.118000	0.20060	9.804000	0.99143	2.840000	0.97914	0.655000	0.94253	ACG		0.408	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		
MYO16	23026	broad.mit.edu	37	13	109459037	109459037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:109459037C>T	ENST00000357550.2	+	6	727	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MYO16_ENST00000356711.2_Missense_Mutation_p.A229V|MYO16_ENST00000251041.5_Missense_Mutation_p.A229V	NM_001198950.1	NP_001185879.1			myosin XVI									p.A229V(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTACACATGGCGTGTGCGAGT	0.433																																					p.A251V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752T	13						.						110.0	101.0	104.0					13																	109459037		2203	4300	6503	108257038	SO:0001583	missense	23026	exon7				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.686C>T	13.37:g.109459037C>T	ENSP00000350160:p.Ala229Val	Somatic		Capture	Illumina HiSeq	Phase_I	108257038	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610498	0.66558	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.80909	-1.43;-1.43;-1.43	5.05	5.05	0.67936	Ankyrin repeat-containing domain (4);	0.000000	0.40385	U	0.001119	D	0.90202	0.6937	M	0.86864	2.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68039	0.914;0.955	D	0.91513	0.5228	9	.	.	.	.	15.9302	0.79654	0.0:1.0:0.0:0.0	.	229;229	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	V	229;229;229;229;17	ENSP00000349145:A229V;ENSP00000350160:A229V;ENSP00000251041:A229V	.	A	+	2	0	MYO16	108257038	1.000000	0.71417	0.976000	0.42696	0.353000	0.29299	4.922000	0.63404	2.328000	0.79073	0.655000	0.94253	GCG		0.433	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
PABPC3	5042	broad.mit.edu	37	13	25671009	25671009	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:25671009G>A	ENST00000281589.3	+	1	710	c.673G>A	c.(673-675)Gat>Aat	p.D225N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	225	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.D225N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTAATGACCGATGAAAGTGG	0.418																																					p.D225N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G673A	13						.						78.0	74.0	75.0					13																	25671009		2203	4300	6503	24569009	SO:0001583	missense	5042	exon1			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.673G>A	13.37:g.25671009G>A	ENSP00000281589:p.Asp225Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24569009	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198592	0.58126	.	.	ENSG00000151846	ENST00000281589	D	0.92495	-3.05	0.993	-0.176	0.13311	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.48286	U	0.000181	D	0.88392	0.6424	L	0.48218	1.51	0.44337	D	0.997222	P	0.47604	0.898	P	0.47402	0.546	D	0.83511	0.0080	10	0.72032	D	0.01	.	5.6114	0.17408	0.0:0.0:0.6807:0.3193	.	225	Q9H361	PABP3_HUMAN	N	225	ENSP00000281589:D225N	ENSP00000281589:D225N	D	+	1	0	PABPC3	24569009	0.991000	0.36638	0.101000	0.21167	0.859000	0.49053	2.303000	0.43646	-0.078000	0.12730	0.455000	0.32223	GAT		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
LNX2	222484	broad.mit.edu	37	13	28136655	28136655	+	Frame_Shift_Del	DEL	C	C	-	rs544785681		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:28136655delC	ENST00000316334.3	-	5	1248	c.1119delG	c.(1117-1119)gggfs	p.G373fs		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	373	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)	p.L374fs*8(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GGGCAGCCAACCCCCCTTCCA	0.537																																					p.G373fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1119delG	13						.						129.0	135.0	133.0					13																	28136655		2203	4300	6503	27034655	SO:0001589	frameshift_variant	222484	exon5			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1119delG	13.37:g.28136655delC	ENSP00000325929:p.Gly373fs	Somatic		Capture	Illumina HiSeq	Phase_I	27034655	NM_153371	Q5W0P0|Q6ZMH2|Q96SH4	Frame_Shift_Del	DEL	ENST00000316334.3	37	CCDS9323.1																																																																																				0.537	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2		
ELF1	1997	broad.mit.edu	37	13	41556123	41556123	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:41556123C>T	ENST00000239882.3	-	2	382	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.R23Q	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	23					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R23Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TCATACCTGTCGTTCATCCTC	0.328																																					p.R23Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68A	13						.						74.0	76.0	75.0					13																	41556123		2203	4300	6503	40454123	SO:0001583	missense	1997	exon2			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.68G>A	13.37:g.41556123C>T	ENSP00000239882:p.Arg23Gln	Somatic		Capture	Illumina HiSeq	Phase_I	40454123	NM_172373	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029299	0.35797	.	.	ENSG00000120690	ENST00000442101;ENST00000239882;ENST00000405737	T;T;T	0.39592	1.07;1.07;1.07	4.67	3.5	0.40072	.	0.425559	0.23746	N	0.044962	T	0.11580	0.0282	N	0.00483	-1.445	0.25555	N	0.987041	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28996	-1.0026	10	0.07813	T	0.8	.	9.6779	0.40052	0.0:0.0854:0.0:0.9146	.	23;23	E9PDQ9;P32519	.;ELF1_HUMAN	Q	23	ENSP00000405580:R23Q;ENSP00000239882:R23Q;ENSP00000384135:R23Q	ENSP00000239882:R23Q	R	-	2	0	ELF1	40454123	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.144000	0.58057	0.741000	0.32674	-0.302000	0.09304	CGA		0.328	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	
CKAP2	26586	broad.mit.edu	37	13	53049034	53049034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:53049034delA	ENST00000378037.5	+	9	1900	c.1810delA	c.(1810-1812)aaafs	p.K606fs	CKAP2_ENST00000258607.5_Frame_Shift_Del_p.K605fs|CKAP2_ENST00000490903.1_Frame_Shift_Del_p.K557fs	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.K605fs*14(2)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTTCAGTGTGAAAAAAAAGGT	0.318																																					p.K604fs												.	.	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.1810delA	13						.						38.0	38.0	38.0					13																	53049034		2203	4300	6503	51947035	SO:0001589	frameshift_variant	26586	exon9			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1810delA	13.37:g.53049034delA	ENSP00000367276:p.Lys606fs	Somatic		Capture	Illumina HiSeq	Phase_I	51947035	NM_001098525		Frame_Shift_Del	DEL	ENST00000378037.5	37	CCDS41893.1																																																																																				0.318	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2		
DACH1	1602	broad.mit.edu	37	13	72440861	72440861	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:72440861delG	ENST00000359684.2	-	1	46	c.47delC	c.(46-48)cctfs	p.P16fs	DACH1_ENST00000305425.4_Frame_Shift_Del_p.P16fs|DACH1_ENST00000354591.4_Frame_Shift_Del_p.P16fs|DACH1_ENST00000313174.7_Frame_Shift_Del_p.P16fs			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	16					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.P16fs*180(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGGGGTTGAGGGGGGACCAG	0.622																																					p.P16fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.47delC	13						.						22.0	29.0	27.0					13																	72440861		2017	4176	6193	71338862	SO:0001589	frameshift_variant	1602	exon1			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.47delC	13.37:g.72440861delG	ENSP00000352712:p.Pro16fs	Somatic		Capture	Illumina HiSeq	Phase_I	71338862	NM_080759	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Frame_Shift_Del	DEL	ENST00000359684.2	37																																																																																					0.622	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	
SLITRK1	114798	broad.mit.edu	37	13	84455351	84455351	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:84455351C>T	ENST00000377084.2	-	1	1177	c.292G>A	c.(292-294)Gtt>Att	p.V98I		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	98					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.V98I(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCCCCCGGAACGATTTCATGC	0.463																																					p.V98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	13						.						64.0	68.0	67.0					13																	84455351		2203	4300	6503	83353352	SO:0001583	missense	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.292G>A	13.37:g.84455351C>T	ENSP00000366288:p.Val98Ile	Somatic		Capture	Illumina HiSeq	Phase_I	83353352	NM_052910	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137637	0.37728	.	.	ENSG00000178235	ENST00000377084	T	0.42131	0.98	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	L	0.29908	0.895	0.45528	D	0.99848	D	0.54601	0.967	P	0.45681	0.49	T	0.37572	-0.9700	10	0.66056	D	0.02	-6.6799	16.5743	0.84633	0.0:1.0:0.0:0.0	.	98	Q96PX8	SLIK1_HUMAN	I	98	ENSP00000366288:V98I	ENSP00000366288:V98I	V	-	1	0	SLITRK1	83353352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.841000	0.69409	2.477000	0.83638	0.561000	0.74099	GTT		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
TUBGCP3	10426	broad.mit.edu	37	13	113200126	113200126	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr13:113200126C>A	ENST00000261965.3	-	11	1408	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.D408Y	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	408					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D408Y(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					ATGTACGGGTCTCCTGTTTTT	0.507																																					p.D408Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1222T	13						.						176.0	171.0	173.0					13																	113200126		2203	4300	6503	112248127	SO:0001583	missense	10426	exon11			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1222G>T	13.37:g.113200126C>A	ENSP00000261965:p.Asp408Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	112248127	NM_006322	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771976	0.90108	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.10763	2.84;2.84	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.90977	3.165	0.80722	D	1	D;P;D	0.89917	1.0;0.932;0.998	D;P;D	0.76575	0.988;0.856;0.979	T	0.55471	-0.8136	10	0.62326	D	0.03	-33.6114	18.7011	0.91620	0.0:1.0:0.0:0.0	.	398;408;408	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	Y	408	ENSP00000261965:D408Y;ENSP00000364821:D408Y	ENSP00000261965:D408Y	D	-	1	0	TUBGCP3	112248127	1.000000	0.71417	0.872000	0.34217	0.987000	0.75469	7.128000	0.77217	2.416000	0.81992	0.549000	0.68633	GAC		0.507	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
OR11H6	122748	broad.mit.edu	37	14	20692232	20692232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:20692232delT	ENST00000315519.2	+	1	442	c.364delT	c.(364-366)tttfs	p.F123fs		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S124fs*31(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATTCTATTTCTTTTTTTCACT	0.423																																					p.F122fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.364delT	14						.						152.0	152.0	152.0					14																	20692232		2203	4300	6503	19762072	SO:0001589	frameshift_variant	122748	exon1				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.364delT	14.37:g.20692232delT	ENSP00000319071:p.Phe123fs	Somatic		Capture	Illumina HiSeq	Phase_I	19762072	NM_001004480	Q6IF08	Frame_Shift_Del	DEL	ENST00000315519.2	37	CCDS32033.1																																																																																				0.423	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1		
PCK2	5106	broad.mit.edu	37	14	24572732	24572732	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:24572732G>A	ENST00000216780.4	+	10	1750	c.1482G>A	c.(1480-1482)atG>atA	p.M494I	PCK2_ENST00000561286.1_Missense_Mutation_p.M360I|PCK2_ENST00000545054.2_Missense_Mutation_p.M360I|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.M328I	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	494					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.M494I(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGATCATCATGCACGACCCAT	0.582																																					p.M494I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1482A	14						.						69.0	71.0	70.0					14																	24572732		2203	4300	6503	23642572	SO:0001583	missense	5106	exon10			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1482G>A	14.37:g.24572732G>A	ENSP00000216780:p.Met494Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23642572	NM_004563	O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372222	0.82573	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.04317	3.65;3.65	5.57	5.57	0.84162	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.89968	3.075	0.80722	D	1	D;D	0.60160	0.987;0.964	D;D	0.81914	0.995;0.95	T	0.04481	-1.0948	10	0.87932	D	0	-7.0936	17.4188	0.87508	0.0:0.0:1.0:0.0	.	360;494	B4DW73;Q16822	.;PCKGM_HUMAN	I	494;360	ENSP00000216780:M494I;ENSP00000441826:M360I	ENSP00000216780:M494I	M	+	3	0	PCK2	23642572	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	ATG		0.582	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073	
RNF31	55072	broad.mit.edu	37	14	24626606	24626606	+	Silent	SNP	C	C	T	rs544823135		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:24626606C>T	ENST00000324103.6	+	15	2921	c.2601C>T	c.(2599-2601)aaC>aaT	p.N867N	RP11-468E2.4_ENST00000558468.1_Silent_p.N342N|RNF31_ENST00000382687.3_Silent_p.N716N|RNA5SP383_ENST00000362934.1_RNA|RNF31_ENST00000559275.1_Silent_p.N716N	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	867					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N867N(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TTCAGGAAAACGGCATTGGTA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		20741	0.0		0.001	False		,,,				2504	0.0				p.N867N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2601T	14						.						76.0	80.0	79.0					14																	24626606		1943	4151	6094	23696446	SO:0001819	synonymous_variant	55072	exon15			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2601C>T	14.37:g.24626606C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23696446	NM_017999	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	CCDS41931.1																																																																																				0.572	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
TM9SF1	10548	broad.mit.edu	37	14	24662164	24662164	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:24662164C>T	ENST00000261789.4	-	3	1015	c.657G>A	c.(655-657)agG>agA	p.R219R	TM9SF1_ENST00000530611.1_Silent_p.R428R|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Silent_p.R132R|TM9SF1_ENST00000396854.4_Silent_p.R219R|TM9SF1_ENST00000528669.1_Silent_p.R219R|TM9SF1_ENST00000556387.1_Silent_p.R428R	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	219					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.R219R(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CACCACGGCGCCTGTCACTCC	0.527																																					p.R219R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A	14						.						100.0	88.0	92.0					14																	24662164		2203	4300	6503	23732004	SO:0001819	synonymous_variant	10548	exon3			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.657G>A	14.37:g.24662164C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23732004	NM_001014842	D3DS65|Q86SZ6|Q96FI8	Silent	SNP	ENST00000261789.4	37	CCDS9617.1																																																																																				0.527	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405	
ADCY4	196883	broad.mit.edu	37	14	24803826	24803826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:24803826delG	ENST00000310677.4	-	2	146	c.33delC	c.(31-33)cccfs	p.P11fs	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P11fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P11fs|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	11					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S12fs*12(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGTCTTCGCTGGGGGGCGGCC	0.721																																					p.P11fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.33delC	14						.						5.0	5.0	5.0					14																	24803826		2083	4119	6202	23873666	SO:0001589	frameshift_variant	196883	exon2			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.33delC	14.37:g.24803826delG	ENSP00000312126:p.Pro11fs	Somatic		Capture	Illumina HiSeq	Phase_I	23873666	NM_001198592	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	ENST00000310677.4	37	CCDS9627.1																																																																																				0.721	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
PRKD1	5587	broad.mit.edu	37	14	30100160	30100160	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:30100160G>A	ENST00000331968.5	-	10	1689	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	PRKD1_ENST00000415220.2_Missense_Mutation_p.A495V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	487	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.A487V(2)		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)		ATGAGGATTGGCCCCATTAGG	0.363																																					p.A487V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1460T	14						.						114.0	110.0	111.0					14																	30100160		2203	4300	6503	29169911	SO:0001583	missense	5587	exon10				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.1460C>T	14.37:g.30100160G>A	ENSP00000333568:p.Ala487Val	Somatic		Capture	Illumina HiSeq	Phase_I	29169911	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841482	0.51057	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.22743	1.94;1.94;1.94	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	M	0.62723	1.935	0.54753	D	0.999989	B	0.26120	0.142	B	0.36030	0.216	T	0.05338	-1.0891	10	0.30854	T	0.27	-8.1281	19.3637	0.94453	0.0:0.0:1.0:0.0	.	487	Q15139	KPCD1_HUMAN	V	487;495;68	ENSP00000333568:A487V;ENSP00000390535:A495V;ENSP00000447333:A68V	ENSP00000333568:A487V	A	-	2	0	PRKD1	29169911	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.851000	0.55926	2.648000	0.89879	0.655000	0.94253	GCC		0.363	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
ARHGAP5	394	broad.mit.edu	37	14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:32562545delT	ENST00000345122.3	+	2	2985	c.2670delT	c.(2668-2670)gatfs	p.D890fs	ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.D890fs|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.D890fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.D890fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	890					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.F892fs*9(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCCAAGCAGATTTTTTTGAAA	0.403																																					p.D890fs	NSCLC(9;77 350 3443 29227 41353)											.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2670delT	14						.						55.0	53.0	54.0					14																	32562545		2203	4298	6501	31632296	SO:0001589	frameshift_variant	394	exon2			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2670delT	14.37:g.32562545delT	ENSP00000371897:p.Asp890fs	Somatic		Capture	Illumina HiSeq	Phase_I	31632296	NM_001030055	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	37	CCDS32062.1																																																																																				0.403	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
NID2	22795	broad.mit.edu	37	14	52477708	52477708	+	Missense_Mutation	SNP	G	G	A	rs200641159		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:52477708G>A	ENST00000216286.5	-	18	3607	c.3608C>T	c.(3607-3609)aCg>aTg	p.T1203M	NID2_ENST00000541773.1_Missense_Mutation_p.T1102M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1203					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.T1203M(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GACACTGTCCGTCCAGTACAT	0.517																																					p.T1203M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3608T	14						.						134.0	121.0	125.0					14																	52477708		2203	4300	6503	51547458	SO:0001583	missense	22795	exon18			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3608C>T	14.37:g.52477708G>A	ENSP00000216286:p.Thr1203Met	Somatic		Capture	Illumina HiSeq	Phase_I	51547458	NM_007361	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576801	0.65878	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773	D;D	0.97328	-4.34;-4.34	6.04	6.04	0.98038	Six-bladed beta-propeller, TolB-like (1);	0.093186	0.85682	D	0.000000	D	0.99180	0.9716	H	0.97635	4.045	0.36046	D	0.840392	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.99952	1.1565	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	797;1102;1203	E7EPP3;Q14112-2;Q14112	.;.;NID2_HUMAN	M	1203;797;1102	ENSP00000216286:T1203M;ENSP00000443730:T1102M	ENSP00000216286:T1203M	T	-	2	0	NID2	51547458	1.000000	0.71417	0.993000	0.49108	0.588000	0.36517	4.358000	0.59442	2.873000	0.98535	0.561000	0.74099	ACG		0.517	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
KIAA0586	9786	broad.mit.edu	37	14	58949374	58949374	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:58949374G>T	ENST00000556134.1	+	22	3317	c.3043G>T	c.(3043-3045)Ggt>Tgt	p.G1015C	KIAA0586_ENST00000423743.3_Missense_Mutation_p.G986C|KIAA0586_ENST00000261244.5_Missense_Mutation_p.G954C|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.G1083C	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1015					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.G1083C(1)|p.G954C(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAGAAGCAAGGTCCTGTTGC	0.398																																					p.G954C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2860T	14						.						123.0	123.0	123.0					14																	58949374		1866	4123	5989	58019127	SO:0001583	missense	9786	exon20			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3043G>T	14.37:g.58949374G>T	ENSP00000452351:p.Gly1015Cys	Somatic		Capture	Illumina HiSeq	Phase_I	58019127	NM_014749	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698740	0.68501	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.9	0.441	0.16577	.	1.813730	0.02108	N	0.054527	T	0.57666	0.2069	M	0.65975	2.015	0.09310	N	1	D;D;D;D;D;D	0.69078	0.984;0.984;0.992;0.997;0.992;0.992	P;P;P;P;P;P	0.60415	0.634;0.517;0.719;0.874;0.634;0.719	T	0.33163	-0.9879	10	0.52906	T	0.07	.	6.0454	0.19758	0.2667:0.2476:0.4857:0.0	.	890;890;1083;954;1015;986	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	C	1083;1015;986;954;890	ENSP00000346359:G1083C;ENSP00000452351:G1015C;ENSP00000399427:G986C;ENSP00000261244:G954C	ENSP00000261244:G954C	G	+	1	0	KIAA0586	58019127	0.001000	0.12720	0.000000	0.03702	0.521000	0.34408	0.686000	0.25392	0.364000	0.24374	0.650000	0.86243	GGT		0.398	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
PSEN1	5663	broad.mit.edu	37	14	73640342	73640342	+	Missense_Mutation	SNP	C	C	T	rs41345849		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:73640342C>T	ENST00000324501.5	+	5	679	c.407C>T	c.(406-408)gCt>gTt	p.A136V	PSEN1_ENST00000344094.3_Missense_Mutation_p.A136V|PSEN1_ENST00000357710.4_Missense_Mutation_p.A132V|PSEN1_ENST00000394157.3_Missense_Mutation_p.A136V|PSEN1_ENST00000557511.1_Missense_Mutation_p.A136V|PSEN1_ENST00000261970.3_Missense_Mutation_p.A136V|PSEN1_ENST00000394164.1_Missense_Mutation_p.A132V|PSEN1_ENST00000406768.1_Missense_Mutation_p.A44V	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	136					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.A136V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATTCTGAATGCTGCCATCATG	0.438																																					p.A136V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C407T	14	GRCh37	CM024347	PSEN1	M	rs41345849	.						203.0	184.0	191.0					14																	73640342		2203	4300	6503	72710095	SO:0001583	missense	5663	exon5			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.407C>T	14.37:g.73640342C>T	ENSP00000326366:p.Ala136Val	Somatic		Capture	Illumina HiSeq	Phase_I	72710095	NM_000021	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864999	0.91511	.	.	ENSG00000080815	ENST00000557356;ENST00000553719;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.74	3.86	0.44501	.	0.164390	0.53938	D	0.000047	D	0.99441	0.9802	M	0.86740	2.835	0.58432	D	0.999999	P;D;D	0.58970	0.521;0.964;0.984	B;P;P	0.54965	0.412;0.704;0.765	D	0.98368	1.0552	10	0.87932	D	0	-7.4994	12.9774	0.58544	0.0:0.9216:0.0:0.0784	.	132;136;136	P49768-2;P49768;P49768-4	.;PSN1_HUMAN;.	V	132;132;136;136;132;136;136;136;132;136;44	ENSP00000451498:A132V;ENSP00000451674:A132V;ENSP00000377712:A136V;ENSP00000326366:A136V;ENSP00000350342:A132V;ENSP00000450652:A136V;ENSP00000261970:A136V;ENSP00000339523:A136V;ENSP00000377719:A132V;ENSP00000451429:A136V;ENSP00000385948:A44V	ENSP00000261970:A136V	A	+	2	0	PSEN1	72710095	1.000000	0.71417	0.852000	0.33557	0.984000	0.73092	7.651000	0.83577	1.209000	0.43321	0.563000	0.77884	GCT		0.438	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2		
YLPM1	56252	broad.mit.edu	37	14	75230878	75230878	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:75230878A>G	ENST00000552421.1	+	1	810	c.686A>G	c.(685-687)cAg>cGg	p.Q229R	YLPM1_ENST00000238571.3_Missense_Mutation_p.Q229R|YLPM1_ENST00000325680.7_Missense_Mutation_p.Q229R			P49750	YLPM1_HUMAN	YLP motif containing 1	229					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Q229R(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCTCTTCTCAGGCATCTCCT	0.567																																					p.Q229R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A686G	14						.						93.0	98.0	96.0					14																	75230878		1968	4148	6116	74300631	SO:0001583	missense	56252	exon1			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.686A>G	14.37:g.75230878A>G	ENSP00000447921:p.Gln229Arg	Somatic		Capture	Illumina HiSeq	Phase_I	74300631	NM_019589	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	A	11.70	1.716507	0.30413	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.22336	1.96;1.96;1.96	4.55	4.55	0.56014	.	0.000000	0.51477	D	0.000081	T	0.28167	0.0695	N	0.19112	0.55	0.31243	N	0.694953	D	0.57899	0.981	D	0.67900	0.954	T	0.13602	-1.0503	10	0.52906	T	0.07	-5.8313	11.5363	0.50639	1.0:0.0:0.0:0.0	.	229	P49750-4	.	R	229	ENSP00000447921:Q229R;ENSP00000324463:Q229R;ENSP00000238571:Q229R	ENSP00000238571:Q229R	Q	+	2	0	YLPM1	74300631	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.725000	0.54970	1.901000	0.55032	0.528000	0.53228	CAG		0.567	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
FOXN3	1112	broad.mit.edu	37	14	89629212	89629212	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:89629212G>T	ENST00000345097.4	-	7	1135	c.1019C>A	c.(1018-1020)gCc>gAc	p.A340D	FOXN3_ENST00000557258.1_Missense_Mutation_p.A318D|FOXN3_ENST00000261302.5_Missense_Mutation_p.A340D|FOXN3_ENST00000555353.1_Missense_Mutation_p.A318D	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	340					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A318D(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAGGACTTGGCACTGCTGTA	0.617																																					p.A340D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1019A	14						.						36.0	26.0	29.0					14																	89629212		2189	4284	6473	88698965	SO:0001583	missense	1112	exon7				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1019C>A	14.37:g.89629212G>T	ENSP00000343288:p.Ala340Asp	Somatic		Capture	Illumina HiSeq	Phase_I	88698965	NM_001085471	Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188293	0.78789	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.68943	0.895;0.961	T	0.75709	-0.3223	10	0.52906	T	0.07	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	340;318	O00409;O00409-2	FOXN3_HUMAN;.	D	340;340;318;318	ENSP00000343288:A340D;ENSP00000261302:A340D;ENSP00000452005:A318D;ENSP00000452227:A318D	ENSP00000261302:A340D	A	-	2	0	FOXN3	88698965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.837000	0.86796	2.824000	0.97209	0.655000	0.94253	GCC		0.617	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197	
FOXN3	1112	broad.mit.edu	37	14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:89878534delG	ENST00000345097.4	-	2	403	c.287delC	c.(286-288)ccafs	p.P96fs	RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000557258.1_Frame_Shift_Del_p.P96fs|FOXN3_ENST00000261302.5_Frame_Shift_Del_p.P96fs|FOXN3_ENST00000555353.1_Frame_Shift_Del_p.P96fs|RP11-33N16.2_ENST00000556383.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	96					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCAGGGGATGGGGGGGTGTC	0.592																																					p.P96fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.287delC	14						.						56.0	53.0	54.0					14																	89878534		2203	4300	6503	88948287	SO:0001589	frameshift_variant	1112	exon2				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.287delC	14.37:g.89878534delG	ENSP00000343288:p.Pro96fs	Somatic		Capture	Illumina HiSeq	Phase_I	88948287	NM_001085471	Q96II7|Q9UIE7	Frame_Shift_Del	DEL	ENST00000345097.4	37	CCDS41977.1																																																																																				0.592	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197	
AHNAK2	113146	broad.mit.edu	37	14	105407027	105407027	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr14:105407027C>T	ENST00000333244.5	-	7	14880	c.14761G>A	c.(14761-14763)Ggc>Agc	p.G4921S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4921						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G4921S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTCTGGGCCCTGAGACACA	0.592																																					p.G4921S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14761A	14						.						43.0	44.0	43.0					14																	105407027		1922	4135	6057	104478072	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14761G>A	14.37:g.105407027C>T	ENSP00000353114:p.Gly4921Ser	Somatic		Capture	Illumina HiSeq	Phase_I	104478072	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	1.421	-0.572739	0.03882	.	.	ENSG00000185567	ENST00000333244	T	0.01430	4.9	3.74	0.806	0.18708	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.49351	-0.8949	9	0.11485	T	0.65	.	8.6794	0.34198	0.0:0.4707:0.0:0.5293	.	4921	Q8IVF2	AHNK2_HUMAN	S	4921	ENSP00000353114:G4921S	ENSP00000353114:G4921S	G	-	1	0	AHNAK2	104478072	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.646000	0.05403	-0.511000	0.06514	-0.925000	0.02716	GGC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
NPAP1	23742	broad.mit.edu	37	15	24921461	24921461	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:24921461C>T	ENST00000329468.2	+	1	921	c.447C>T	c.(445-447)acC>acT	p.T149T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	149					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T149T(1)									TGGAGGAGACCGAGGTGTGGG	0.622																																					p.T149T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C447T	15						.						37.0	35.0	36.0					15																	24921461		2201	4296	6497	22472554	SO:0001819	synonymous_variant	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.447C>T	15.37:g.24921461C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22472554	NM_018958		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																				0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
ATP10A	57194	broad.mit.edu	37	15	25959029	25959029	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:25959029G>A	ENST00000356865.6	-	10	2247	c.2136C>T	c.(2134-2136)tgC>tgT	p.C712C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	712					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C712C(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCACAAGCACGCAGTTGTAGG	0.647																																					p.C712C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2136T	15						.						61.0	57.0	59.0					15																	25959029		2203	4300	6503	23510122	SO:0001819	synonymous_variant	57194	exon10			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2136C>T	15.37:g.25959029G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23510122	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.647	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
TRPM1	4308	broad.mit.edu	37	15	31294625	31294625	+	Silent	SNP	C	C	T	rs554560593		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:31294625C>T	ENST00000256552.6	-	28	4425	c.4278G>A	c.(4276-4278)acG>acA	p.T1426T	TRPM1_ENST00000397795.2_Silent_p.T1404T|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.T1443T	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.T1404T(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTATATTTGTCGTTTCCACTG	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23447	0.0		0.0	False		,,,				2504	0.0				p.T1404T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4212A	15						.						160.0	149.0	153.0					15																	31294625		1864	4111	5975	29081917	SO:0001819	synonymous_variant	4308	exon27			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4278G>A	15.37:g.31294625C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29081917	NM_002420		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.363	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
TRPM1	4308	broad.mit.edu	37	15	31359363	31359363	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:31359363A>C	ENST00000256552.6	-	6	668	c.521T>G	c.(520-522)tTg>tGg	p.L174W	TRPM1_ENST00000397795.2_Missense_Mutation_p.L152W|TRPM1_ENST00000542188.1_Missense_Mutation_p.L191W|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.L152W(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTGGTCTTTCAAGGCATCCCC	0.483																																					p.L152W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T455G	15						.						117.0	117.0	117.0					15																	31359363		1920	4117	6037	29146655	SO:0001583	missense	4308	exon5			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.521T>G	15.37:g.31359363A>C	ENSP00000256552:p.Leu174Trp	Somatic		Capture	Illumina HiSeq	Phase_I	29146655	NM_002420		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.033846	0.93575	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.03413	3.94;3.94;3.94	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.987	T	0.03212	-1.1060	10	0.87932	D	0	-23.2253	16.7021	0.85357	1.0:0.0:0.0:0.0	.	152;152	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	152;191;174;152	ENSP00000380897:L152W;ENSP00000437849:L191W;ENSP00000256552:L174W	ENSP00000256552:L174W	L	-	2	0	TRPM1	29146655	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.332000	0.96446	2.343000	0.79666	0.533000	0.62120	TTG		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
OTUD7A	161725	broad.mit.edu	37	15	31776529	31776529	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:31776529C>T	ENST00000307050.4	-	11	1841	c.1749G>A	c.(1747-1749)ccG>ccA	p.P583P	OTUD7A_ENST00000382902.1_Silent_p.P590P	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	583					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P583P(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCTTTTCCGACGGCGACGTGC	0.701																																					p.P583P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1749A	15						.						22.0	24.0	24.0					15																	31776529		2201	4299	6500	29563821	SO:0001819	synonymous_variant	161725	exon11			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1749G>A	15.37:g.31776529C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29563821	NM_130901	Q8IWK5	Silent	SNP	ENST00000307050.4	37	CCDS10026.1																																																																																				0.701	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901	
RASGRP1	10125	broad.mit.edu	37	15	38805040	38805040	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:38805040G>A	ENST00000310803.5	-	7	970	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	RASGRP1_ENST00000558164.1_Missense_Mutation_p.R265C|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R265C|RASGRP1_ENST00000559830.1_Missense_Mutation_p.R265C|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R217C|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R316C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	265	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.R265C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGCGTGGGGCGGCTGAGAACC	0.498																																					p.R265C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793T	15						.						59.0	64.0	63.0					15																	38805040		1975	4165	6140	36592332	SO:0001583	missense	10125	exon7			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.793C>T	15.37:g.38805040G>A	ENSP00000310244:p.Arg265Cys	Somatic		Capture	Illumina HiSeq	Phase_I	36592332	NM_005739	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703148	0.68501	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.07	5.07	0.68467	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.985;0.99;0.983	T	0.52177	-0.8610	10	0.72032	D	0.01	-20.2554	13.4103	0.60938	0.0:0.0:0.8047:0.1953	.	265;265;265;265	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	C	265;265;265;265;217;265;265	ENSP00000310244:R265C;ENSP00000388540:R265C;ENSP00000444762:R217C;ENSP00000413105:R265C	ENSP00000310244:R265C	R	-	1	0	RASGRP1	36592332	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.991000	0.49409	2.642000	0.89623	0.555000	0.69702	CGC		0.498	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	
C15orf53	400359	broad.mit.edu	37	15	38990624	38990624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:38990624C>T	ENST00000318792.1	+	2	428	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	140								p.R140*(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		TGTCTTCCTGCGACCCAGTGA	0.552																																					p.R140X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C418T	15						.						41.0	43.0	42.0					15																	38990624		2200	4297	6497	36777916	SO:0001587	stop_gained	400359	exon2				CCDS10048.1	15q14	2007-11-21			ENSG00000175779	ENSG00000175779			33796	protein-coding gene	gene with protein product							Standard	NM_207444		Approved	FLJ35695	uc001zkf.1	Q8NAA6	OTTHUMG00000129841	ENST00000318792.1:c.418C>T	15.37:g.38990624C>T	ENSP00000325144:p.Arg140*	Somatic		Capture	Illumina HiSeq	Phase_I	36777916	NM_207444		Nonsense_Mutation	SNP	ENST00000318792.1	37	CCDS10048.1	.	.	.	.	.	.	.	.	.	.	C	8.170	0.791505	0.16258	.	.	ENSG00000175779	ENST00000318792	.	.	.	3.18	-6.36	0.01969	.	.	.	.	.	.	.	.	.	.	.	0.32355	N	0.557983	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.069	0.09874	0.0899:0.2995:0.3777:0.2329	.	.	.	.	X	140	.	ENSP00000325144:R140X	R	+	1	2	C15orf53	36777916	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.287000	0.01151	-5.351000	0.00016	-3.892000	0.00017	CGA		0.552	C15orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252081.1	NM_207444	
PLA2G4B	100137049	broad.mit.edu	37	15	42133739	42133739	+	Missense_Mutation	SNP	G	G	A	rs141176840	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:42133739G>A	ENST00000452633.1	+	8	812	c.460G>A	c.(460-462)Gtt>Att	p.V154I	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.V385I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.V385I|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.V154I|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.V385I			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	154					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.V385I(1)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CTGCTTGCACGTTCAACTGGA	0.602													g|||	7	0.00139776	0.0053	0.0	5008	,	,		14248	0.0		0.0	False		,,,				2504	0.0				p.V385I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1153A	15						.	G	ILE/VAL,ILE/VAL,ILE/VAL	13,4393		0,13,2190	58.0	59.0	59.0		460,1153,1153	4.8	0.4	15	dbSNP_134	59	1,8599		0,1,4299	yes	missense,missense,missense	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	29,29,29	0,14,6489	AA,AG,GG		0.0116,0.2951,0.1076	probably-damaging,probably-damaging,probably-damaging	154/782,385/894,385/1013	42133739	14,12992	2203	4300	6503	39921031	SO:0001583	missense	8681	exon12			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.460G>A	15.37:g.42133739G>A	ENSP00000396045:p.Val154Ile	Somatic		Capture	Illumina HiSeq	Phase_I	39921031	NM_005090	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.04	2.118342	0.37339	0.002951	1.16E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.01613	5.05;4.73;4.98;4.98	4.76	4.76	0.60689	.	0.000000	0.46442	D	0.000291	T	0.05593	0.0147	L	0.41415	1.275	0.29318	N	0.867576	B;D;B	0.71674	0.047;0.998;0.032	B;D;B	0.71184	0.011;0.972;0.009	T	0.25916	-1.0118	10	0.30854	T	0.27	-27.5758	13.6419	0.62255	0.0:0.0:1.0:0.0	.	154;385;385	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	I	385;385;154;154	ENSP00000371886:V385I;ENSP00000342785:V385I;ENSP00000416610:V154I;ENSP00000396045:V154I	ENSP00000342785:V385I	V	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39921031	0.697000	0.27767	0.448000	0.26945	0.735000	0.41995	1.793000	0.38764	2.375000	0.81037	0.591000	0.81541	GTT		0.602	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633	
SLC24A5	283652	broad.mit.edu	37	15	48413270	48413270	+	Missense_Mutation	SNP	C	C	T	rs189224179	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:48413270C>T	ENST00000341459.3	+	1	102	c.29C>T	c.(28-30)gCg>gTg	p.A10V	SLC24A5_ENST00000482911.2_Missense_Mutation_p.A10V|SLC24A5_ENST00000449382.2_Missense_Mutation_p.A10V	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	10					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A10V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CAAACATGGGCGAGAAGGGCT	0.577													C|||	4	0.000798722	0.0	0.0	5008	,	,		18691	0.002		0.0	False		,,,				2504	0.002				p.A10V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C29T	15						.						76.0	63.0	67.0					15																	48413270		2198	4297	6495	46200562	SO:0001583	missense	283652	exon1			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.29C>T	15.37:g.48413270C>T	ENSP00000341550:p.Ala10Val	Somatic		Capture	Illumina HiSeq	Phase_I	46200562	NM_205850	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	CCDS10128.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.03	1.814691	0.32053	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.77877	-0.99;-1.13	5.53	3.59	0.41128	.	1.056260	0.07326	N	0.878425	T	0.58736	0.2143	N	0.08118	0	0.09310	N	1	B;B;B	0.27286	0.002;0.002;0.174	B;B;B	0.18561	0.001;0.001;0.022	T	0.43475	-0.9389	10	0.40728	T	0.16	.	8.9585	0.35832	0.0:0.7648:0.1524:0.0828	.	10;10;10	A5X8Z9;Q71RS6;A5X8Z8	.;NCKX5_HUMAN;.	V	10	ENSP00000341550:A10V;ENSP00000389966:A10V	ENSP00000341550:A10V	A	+	2	0	SLC24A5	46200562	0.591000	0.26824	0.863000	0.33907	0.015000	0.08874	0.813000	0.27225	2.882000	0.98803	0.655000	0.94253	GCG		0.577	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	
FBN1	2200	broad.mit.edu	37	15	48766465	48766465	+	Silent	SNP	G	G	A	rs376886165		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:48766465G>A	ENST00000316623.5	-	34	4652	c.4197C>T	c.(4195-4197)ggC>ggT	p.G1399G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1399	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1399G(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TACAAGTGAAGCCATCACCTG	0.458																																					p.G1399G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4197T	15						.	G		1,4395	2.1+/-5.4	0,1,2197	145.0	118.0	127.0		4197	2.2	1.0	15		127	0,8592		0,0,4296	no	coding-synonymous	FBN1	NM_000138.4		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		1399/2872	48766465	1,12987	2198	4296	6494	46553757	SO:0001819	synonymous_variant	2200	exon34			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4197C>T	15.37:g.48766465G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46553757	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
ATP8B4	79895	broad.mit.edu	37	15	50273462	50273462	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:50273462C>T	ENST00000284509.6	-	11	919	c.778G>A	c.(778-780)Ggt>Agt	p.G260S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G260S|RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	260						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G260S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTGTCTTACCACTATTCTGC	0.294																																					p.G260S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G778A	15						.						195.0	174.0	181.0					15																	50273462		2195	4295	6490	48060754	SO:0001583	missense	79895	exon11			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.778G>A	15.37:g.50273462C>T	ENSP00000284509:p.Gly260Ser	Somatic		Capture	Illumina HiSeq	Phase_I	48060754	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304482	0.95601	.	.	ENSG00000104043	ENST00000284509	D	0.89875	-2.58	5.52	5.52	0.82312	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.93354	0.7881	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92297	0.5846	10	0.40728	T	0.16	.	17.2804	0.87127	0.0:1.0:0.0:0.0	.	260	Q8TF62	AT8B4_HUMAN	S	260	ENSP00000284509:G260S	ENSP00000284509:G260S	G	-	1	0	ATP8B4	48060754	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.776000	0.85560	2.739000	0.93911	0.655000	0.94253	GGT		0.294	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
UNC13C	440279	broad.mit.edu	37	15	54592537	54592537	+	Missense_Mutation	SNP	C	C	T	rs370227736		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:54592537C>T	ENST00000260323.11	+	12	4234	c.4234C>T	c.(4234-4236)Cgt>Tgt	p.R1412C	UNC13C_ENST00000545554.1_Missense_Mutation_p.R1412C|UNC13C_ENST00000537900.1_Missense_Mutation_p.R1410C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1412					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R1412C(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTGCTATGCGTTATGGAAT	0.353																																					p.R1412C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4234T	15						.	C	CYS/ARG	0,3684		0,0,1842	100.0	92.0	95.0		4234	5.6	1.0	15		95	1,8251		0,1,4125	no	missense	UNC13C	NM_001080534.1	180	0,1,5967	TT,TC,CC		0.0121,0.0,0.0084	probably-damaging	1412/2215	54592537	1,11935	1842	4126	5968	52379829	SO:0001583	missense	440279	exon11			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4234C>T	15.37:g.54592537C>T	ENSP00000260323:p.Arg1412Cys	Somatic		Capture	Illumina HiSeq	Phase_I	52379829	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256026	0.80246	0.0	1.21E-4	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83075	-1.67;-1.68;-1.67	5.61	5.61	0.85477	.	0.052585	0.64402	D	0.000001	D	0.92011	0.7469	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.92727	0.6196	10	0.87932	D	0	.	18.6257	0.91336	0.0:1.0:0.0:0.0	.	1412;1412	F5H090;Q8NB66	.;UN13C_HUMAN	C	1412;1412;1410	ENSP00000260323:R1412C;ENSP00000438156:R1412C;ENSP00000442569:R1410C	ENSP00000260323:R1412C	R	+	1	0	UNC13C	52379829	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.110000	0.71535	2.640000	0.89533	0.655000	0.94253	CGT		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
DIS3L	115752	broad.mit.edu	37	15	66606426	66606426	+	Missense_Mutation	SNP	G	G	A	rs372960179		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:66606426G>A	ENST00000319212.4	+	6	835	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	DIS3L_ENST00000319194.5_Missense_Mutation_p.R179Q|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Missense_Mutation_p.R128Q	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	262					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.R262Q(1)|p.R179Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTTTTGTTCGACTTCAAGGA	0.328													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15960	0.0		0.0	False		,,,				2504	0.0				p.R262Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G785A	15						.	G	GLN/ARG,GLN/ARG	1,4395		0,1,2197	44.0	44.0	44.0		536,785	4.9	1.0	15		44	1,8589		0,1,4294	no	missense,missense	DIS3L	NM_133375.3,NM_001143688.1	43,43	0,2,6491	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	179/972,262/1055	66606426	2,12984	2198	4295	6493	64393480	SO:0001583	missense	115752	exon6				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.785G>A	15.37:g.66606426G>A	ENSP00000321711:p.Arg262Gln	Somatic		Capture	Illumina HiSeq	Phase_I	64393480	NM_001143688	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576669	0.65878	2.27E-4	1.16E-4	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212;ENST00000525109	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.92	4.92	0.64577	.	0.340002	0.31102	N	0.008242	T	0.43478	0.1249	N	0.25094	0.71	0.80722	D	1	B;P	0.37141	0.449;0.584	B;B	0.24006	0.022;0.05	T	0.41215	-0.9521	10	0.19147	T	0.46	-14.4334	17.111	0.86674	0.0:0.0:1.0:0.0	.	262;262	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	Q	179;128;262;128	ENSP00000321583:R179Q;ENSP00000388980:R128Q;ENSP00000321711:R262Q;ENSP00000432125:R128Q	ENSP00000321583:R179Q	R	+	2	0	DIS3L	64393480	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.825000	0.86693	2.264000	0.75181	0.455000	0.32223	CGA		0.328	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	
REC114	283677	broad.mit.edu	37	15	73848719	73848719	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:73848719C>T	ENST00000331090.6	+	5	651	c.623C>T	c.(622-624)aCg>aTg	p.T208M	C15orf60_ENST00000560581.1_Missense_Mutation_p.T180M	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		208					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.T208M(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						ACCTCACTGACGCAGTTAGCT	0.443																																					p.T208M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C623T	15						.						85.0	93.0	91.0					15																	73848719		2009	4168	6177	71635772	SO:0001583	missense	283677	exon5																														ENST00000331090.6:c.623C>T	15.37:g.73848719C>T	ENSP00000328423:p.Thr208Met	Somatic		Capture	Illumina HiSeq	Phase_I	71635772	NM_001042367		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	C	9.897	1.205777	0.22205	.	.	ENSG00000183324	ENST00000331090	T	0.44482	0.92	5.64	-0.13	0.13498	.	1.176380	0.06052	N	0.656756	T	0.23572	0.0570	N	0.16478	0.41	0.09310	N	1	B	0.33022	0.394	B	0.24701	0.055	T	0.19321	-1.0309	10	0.46703	T	0.11	-11.1542	5.6359	0.17536	0.0:0.5:0.1487:0.3513	.	208	Q7Z4M0	CO060_HUMAN	M	208	ENSP00000328423:T208M	ENSP00000328423:T208M	T	+	2	0	C15orf60	71635772	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	-0.339000	0.07832	0.062000	0.16340	0.563000	0.77884	ACG		0.443	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		
SIN3A	25942	broad.mit.edu	37	15	75684803	75684803	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:75684803T>C	ENST00000394947.3	-	15	2945	c.2631A>G	c.(2629-2631)agA>agG	p.R877R	SIN3A_ENST00000394949.4_Silent_p.R877R|SIN3A_ENST00000360439.4_Silent_p.R877R	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.R877R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CATCCATTCCTCTTAATTTTT	0.438																																					p.R877R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2631G	15						.						148.0	146.0	147.0					15																	75684803		2197	4294	6491	73471856	SO:0001819	synonymous_variant	25942	exon15			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2631A>G	15.37:g.75684803T>C		Somatic		Capture	Illumina HiSeq	Phase_I	73471856	NM_001145358		Silent	SNP	ENST00000394947.3	37	CCDS10279.1																																																																																				0.438	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
MORF4L1	10933	broad.mit.edu	37	15	79184612	79184612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:79184612C>T	ENST00000331268.5	+	9	818	c.614C>T	c.(613-615)cCg>cTg	p.P205L	MORF4L1_ENST00000558502.1_Missense_Mutation_p.P78L|MORF4L1_ENST00000426013.2_Missense_Mutation_p.P166L|MORF4L1_ENST00000558746.1_Missense_Mutation_p.P139L|MORF4L1_ENST00000379535.4_Missense_Mutation_p.P191L|MORF4L1_ENST00000559345.1_Missense_Mutation_p.P78L|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	205	Interaction with RB1-1.|MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.P205L(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GAGCTAAAACCGTGGCTTGTT	0.363																																					p.P166L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	15						.						78.0	77.0	77.0					15																	79184612		2196	4293	6489	76971667	SO:0001583	missense	10933	exon8			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.614C>T	15.37:g.79184612C>T	ENSP00000331310:p.Pro205Leu	Somatic		Capture	Illumina HiSeq	Phase_I	76971667	NM_006791	B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219757	0.39201	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.08984	3.03;3.03;3.03	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	M	0.62723	1.935	0.80722	D	1	D;D;P	0.56521	0.976;0.97;0.799	P;B;B	0.46825	0.528;0.393;0.27	T	0.03807	-1.1002	10	0.29301	T	0.29	-2.657	17.1079	0.86668	0.0:1.0:0.0:0.0	.	166;166;205	A5D8W6;Q9UBU8-2;Q9UBU8	.;.;MO4L1_HUMAN	L	191;166;205	ENSP00000368850:P191L;ENSP00000408880:P166L;ENSP00000331310:P205L	ENSP00000331310:P205L	P	+	2	0	MORF4L1	76971667	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	7.618000	0.83043	2.448000	0.82819	0.491000	0.48974	CCG		0.363	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791	
NUTM1	256646	broad.mit.edu	37	15	34647845	34647845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:34647845delG	ENST00000333756.4	+	7	1707	c.1552delG	c.(1552-1554)gggfs	p.G519fs	NUTM1_ENST00000537011.1_Frame_Shift_Del_p.G547fs|NUTM1_ENST00000438749.3_Frame_Shift_Del_p.G537fs	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	519						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G519fs*26(1)									TCAGGGGGCTGGGGGCGCCGC	0.582																																					p.G518fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1552delG	15						.						61.0	69.0	66.0					15																	34647845		2201	4298	6499	32435137	SO:0001589	frameshift_variant	256646	exon7			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1552delG	15.37:g.34647845delG	ENSP00000329448:p.Gly519fs	Somatic		Capture	Illumina HiSeq	Phase_I	32435137	NM_175741	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Frame_Shift_Del	DEL	ENST00000333756.4	37	CCDS32190.1																																																																																				0.582	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
BBS4	585	broad.mit.edu	37	15	73029885	73029886	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	AA	AA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:73029885_73029886delAA	ENST00000268057.4	+	16	1558_1559	c.1517_1518delAA	c.(1516-1518)gaafs	p.E506fs	BBS4_ENST00000542334.1_Frame_Shift_Del_p.E334fs|BBS4_ENST00000539603.1_Frame_Shift_Del_p.E494fs|BBS4_ENST00000395205.2_Frame_Shift_Del_p.E514fs	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	506	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.E506fs*5(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CCTGCGGTGGAATCAAGTCCAA	0.436									Bardet-Biedl syndrome																												p.506_506del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1517_1518del	15						.																																			70816939	SO:0001589	frameshift_variant	585	exon16	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1517_1518delAA	15.37:g.73029885_73029886delAA	ENSP00000268057:p.Glu506fs	Somatic		Capture	Illumina HiSeq	Phase_I	70816938	NM_033028	B4E178|Q53DZ5|Q8NHU9|Q96H45	Frame_Shift_Del	DEL	ENST00000268057.4	37	CCDS10246.1																																																																																				0.436	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028	
WHAMM	123720	broad.mit.edu	37	15	83499779	83499779	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:83499779C>T	ENST00000286760.4	+	9	2169	c.2070C>T	c.(2068-2070)tgC>tgT	p.C690C		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	690	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.C690C(2)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CTCTAGTGTGCGAATCACCTG	0.522																																					p.C690C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2070T	15						.						98.0	103.0	101.0					15																	83499779		2158	4280	6438	81296833	SO:0001819	synonymous_variant	123720	exon9			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2070C>T	15.37:g.83499779C>T		Somatic		Capture	Illumina HiSeq	Phase_I	81296833	NM_001080435	Q8N1J9	Silent	SNP	ENST00000286760.4	37	CCDS45333.1																																																																																				0.522	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1		
SYNM	23336	broad.mit.edu	37	15	99670907	99670907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr15:99670907delG	ENST00000560674.1	+	4	1953	c.1484delG	c.(1483-1485)tggfs	p.W495fs	SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Frame_Shift_Del_p.W780fs|SYNM_ENST00000336292.6_Frame_Shift_Del_p.W780fs			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	781	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.L782fs*36(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCAGGCCCCTGGGGGTTGGTT	0.547																																					p.G781fs	Pancreas(125;1071 1762 21750 40003 40381)											.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2341delG	15						.						34.0	39.0	37.0					15																	99670907		1995	4172	6167	97488430	SO:0001589	frameshift_variant	23336	exon4			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1484delG	15.37:g.99670907delG	ENSP00000453040:p.Trp495fs	Somatic		Capture	Illumina HiSeq	Phase_I	97488430	NM_015286	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Frame_Shift_Del	DEL	ENST00000560674.1	37																																																																																					0.547	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
WDR90	197335	broad.mit.edu	37	16	706010	706011	+	Intron	INS	-	-	A	rs35582942|rs200531789|rs397750033	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:706010_706011insA	ENST00000293879.4	+	17	1966				LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Intron			Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CACAGGGTGCCACGGGGCCAAG	0.728													A|A|AA|insertion	3468	0.692492	0.8593	0.5937	5008	,	,		14137	0.9841		0.3767	False		,,,				2504	0.5613				.												.	.	0			.	16						.																																			646012	SO:0001627	intron_variant	197335	.			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1966+121->A	16.37:g.706011_706011dupA		Somatic		Capture	Illumina HiSeq	Phase_I	646011	.	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Frame_Shift_Ins	INS	ENST00000293879.4	37	CCDS42092.1																																																																																				0.728	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	
ATF7IP2	80063	broad.mit.edu	37	16	10567367	10567367	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:10567367C>T	ENST00000396560.2	+	9	1685	c.1458C>T	c.(1456-1458)agC>agT	p.S486S	ATF7IP2_ENST00000543967.1_Silent_p.S30S|ATF7IP2_ENST00000324570.5_Silent_p.S486S|ATF7IP2_ENST00000396559.1_Silent_p.S486S|ATF7IP2_ENST00000356427.2_Silent_p.S486S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S486S(1)		large_intestine(3)	3						GAAATTCTAGCAATTCTCCCA	0.284																																					p.S486S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1458T	16						.						71.0	80.0	77.0					16																	10567367		2196	4289	6485	10474868	SO:0001819	synonymous_variant	80063	exon8			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1458C>T	16.37:g.10567367C>T		Somatic		Capture	Illumina HiSeq	Phase_I	10474868	NM_024997	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	2.025	-0.423916	0.04734	.	.	ENSG00000166669	ENST00000535850	.	.	.	4.96	0.522	0.17053	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37126	-0.9719	5	0.87932	D	0	0.8748	3.3974	0.07311	0.1788:0.5169:0.0:0.3043	.	.	.	.	V	409	.	ENSP00000440791:A409V	A	+	2	0	ATF7IP2	10474868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.012000	0.12699	0.277000	0.22141	0.655000	0.94253	GCA		0.284	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
HBQ1	3049	broad.mit.edu	37	16	230982	230982	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:230982C>T	ENST00000199708.2	+	3	338	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	102					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.L102L(1)		large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GCCGCAGCTCCTGGGCCACTG	0.736																																					p.L102L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C304T	16						.						16.0	19.0	18.0					16																	230982		2199	4295	6494	170982	SO:0001819	synonymous_variant	3049	exon3			BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.304C>T	16.37:g.230982C>T		Somatic		Capture	Illumina HiSeq	Phase_I	170982	NM_005331	Q13723|Q1W6G5	Silent	SNP	ENST00000199708.2	37	CCDS10400.1																																																																																				0.736	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	NM_005331	
MYH11	4629	broad.mit.edu	37	16	15839009	15839009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:15839009G>A	ENST00000300036.5	-	20	2606	c.2497C>T	c.(2497-2499)Cag>Tag	p.Q833*	MYH11_ENST00000576790.2_Nonsense_Mutation_p.Q833*|MYH11_ENST00000396324.3_Nonsense_Mutation_p.Q840*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.Q840*	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	833					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.Q840*(1)|p.Q833*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTCCACCACTGCCAGTTCCGC	0.612			T	CBFB	AML																																p.Q840X			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2518T	16						.						86.0	86.0	86.0					16																	15839009		2197	4300	6497	15746510	SO:0001587	stop_gained	4629	exon21			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2497C>T	16.37:g.15839009G>A	ENSP00000300036:p.Gln833*	Somatic		Capture	Illumina HiSeq	Phase_I	15746510	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	41	8.826337	0.98968	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8258	0.85930	0.0:0.0:1.0:0.0	.	.	.	.	X	833;833;840;840;840	.	ENSP00000300036:Q833X	Q	-	1	0	MYH11	15746510	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.858000	0.99539	2.183000	0.69458	0.549000	0.68633	CAG		0.612	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ITPRIPL2	162073	broad.mit.edu	37	16	19125953	19125953	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:19125953T>A	ENST00000381440.3	+	1	700	c.170T>A	c.(169-171)cTc>cAc	p.L57H	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	57						integral component of membrane (GO:0016021)		p.L57H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCGTCCTGCTCCTCCTCAGC	0.706																																					p.L57H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T170A	16						.						20.0	21.0	20.0					16																	19125953		2197	4298	6495	19033454	SO:0001583	missense	162073	exon1				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.170T>A	16.37:g.19125953T>A	ENSP00000370849:p.Leu57His	Somatic		Capture	Illumina HiSeq	Phase_I	19033454	NM_001034841		Missense_Mutation	SNP	ENST00000381440.3	37	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.979858	0.53827	.	.	ENSG00000205730	ENST00000381440	T	0.23147	1.92	3.54	3.54	0.40534	.	0.000000	0.42172	U	0.000756	T	0.32133	0.0819	N	0.24115	0.695	0.41950	D	0.990659	D	0.76494	0.999	P	0.62813	0.907	T	0.17048	-1.0382	10	0.87932	D	0	.	12.0616	0.53566	0.0:0.0:0.0:1.0	.	57	Q3MIP1	IPIL2_HUMAN	H	57	ENSP00000370849:L57H	ENSP00000370849:L57H	L	+	2	0	ITPRIPL2	19033454	0.998000	0.40836	0.801000	0.32222	0.590000	0.36582	3.116000	0.50399	1.396000	0.46663	0.260000	0.18958	CTC		0.706	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841	
PDILT	204474	broad.mit.edu	37	16	20386185	20386185	+	Missense_Mutation	SNP	G	G	A	rs144890989		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:20386185G>A	ENST00000302451.4	-	5	888	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	214					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.R214C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACGTGGAAACGCCCAATGACA	0.428																																					p.R214C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C640T	16						.						183.0	158.0	166.0					16																	20386185		2203	4300	6503	20293686	SO:0001583	missense	204474	exon5				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.640C>T	16.37:g.20386185G>A	ENSP00000305465:p.Arg214Cys	Somatic		Capture	Illumina HiSeq	Phase_I	20293686	NM_174924	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459317	0.43634	.	.	ENSG00000169340	ENST00000302451	T	0.30448	1.53	4.71	4.71	0.59529	Thioredoxin-like fold (2);	0.209115	0.50627	D	0.000117	T	0.33789	0.0875	M	0.65975	2.015	0.27958	N	0.936884	B	0.27351	0.176	B	0.19666	0.026	T	0.36335	-0.9752	10	0.72032	D	0.01	.	15.543	0.76070	0.0:0.0:1.0:0.0	.	214	Q8N807	PDILT_HUMAN	C	214	ENSP00000305465:R214C	ENSP00000305465:R214C	R	-	1	0	PDILT	20293686	0.003000	0.15002	0.742000	0.31022	0.094000	0.18550	0.826000	0.27407	2.600000	0.87896	0.655000	0.94253	CGT		0.428	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
ACSM2B	348158	broad.mit.edu	37	16	20552055	20552055	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:20552055G>C	ENST00000329697.6	-	13	1718	c.1550C>G	c.(1549-1551)tCc>tGc	p.S517C	ACSM2B_ENST00000565322.1_Missense_Mutation_p.S438C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S517C|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S517C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	517					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.S517C(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGTCATGGGATAGGAACTG	0.498																																					p.S517C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1550G	16						.						181.0	159.0	166.0					16																	20552055		2202	4300	6502	20459556	SO:0001583	missense	348158	exon13			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1550C>G	16.37:g.20552055G>C	ENSP00000327453:p.Ser517Cys	Somatic		Capture	Illumina HiSeq	Phase_I	20459556	NM_001105069	Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531940	0.27387	.	.	ENSG00000066813	ENST00000329697	T	0.50277	0.75	3.44	1.4	0.22301	.	0.132342	0.34853	N	0.003632	T	0.38957	0.1060	L	0.37561	1.115	0.80722	D	1	P	0.51933	0.949	P	0.47299	0.543	T	0.16958	-1.0385	10	0.62326	D	0.03	-7.4667	7.1145	0.25409	0.0943:0.3301:0.5756:0.0	.	517	Q68CK6	ACS2B_HUMAN	C	517	ENSP00000327453:S517C	ENSP00000327453:S517C	S	-	2	0	ACSM2B	20459556	0.980000	0.34600	0.989000	0.46669	0.409000	0.31022	3.869000	0.56062	0.275000	0.22094	0.603000	0.83216	TCC		0.498	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
DNAH3	55567	broad.mit.edu	37	16	20996751	20996751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:20996751C>T	ENST00000261383.3	-	48	7312	c.7313G>A	c.(7312-7314)aGc>aAc	p.S2438N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2438	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S2438N(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGCCGCCCGCTGCCCCCTAT	0.547																																					p.S2438N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7313A	16						.						48.0	41.0	43.0					16																	20996751		2201	4300	6501	20904252	SO:0001583	missense	55567	exon48			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7313G>A	16.37:g.20996751C>T	ENSP00000261383:p.Ser2438Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20904252	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719128	0.68844	.	.	ENSG00000158486	ENST00000261383	T	0.44482	0.92	5.52	4.56	0.56223	Dynein heavy chain, P-loop containing D4 domain (1);	0.144361	0.49916	D	0.000140	T	0.77870	0.4195	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87250	0.2272	10	0.87932	D	0	.	16.3338	0.83052	0.0:0.8677:0.1323:0.0	.	2438	Q8TD57	DYH3_HUMAN	N	2438	ENSP00000261383:S2438N	ENSP00000261383:S2438N	S	-	2	0	DNAH3	20904252	0.988000	0.35896	0.995000	0.50966	0.894000	0.52154	2.448000	0.44926	1.317000	0.45149	-0.175000	0.13238	AGC		0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
PRKCB	5579	broad.mit.edu	37	16	24192240	24192240	+	Silent	SNP	C	C	T	rs17847876		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:24192240C>T	ENST00000321728.7	+	13	1699	c.1524C>T	c.(1522-1524)atC>atT	p.I508I	PRKCB_ENST00000303531.7_Silent_p.I508I	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.I508I(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CAGACTACATCGCCCCCGAGG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		18928	0.0		0.001	False		,,,				2504	0.0				p.I508I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1524T	16						.						140.0	127.0	132.0					16																	24192240		2197	4300	6497	24099741	SO:0001819	synonymous_variant	5579	exon13			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1524C>T	16.37:g.24192240C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24099741	NM_212535	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1																																																																																				0.542	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
AQP8	343	broad.mit.edu	37	16	25228722	25228722	+	Silent	SNP	C	C	T	rs138117795	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:25228722C>T	ENST00000219660.5	+	2	341	c.216C>T	c.(214-216)caC>caT	p.H72H	AQP8_ENST00000566125.1_Silent_p.H66H	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	72					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.H72H(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CCCTGGCCCACGGGCTGGCTT	0.607																																					p.H72H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C216T	16						.	C		1,4393	2.1+/-5.4	0,1,2196	104.0	113.0	110.0		216	-11.0	0.7	16	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AQP8	NM_001169.2		0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154		72/262	25228722	2,12992	2197	4300	6497	25136223	SO:0001819	synonymous_variant	343	exon2			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.216C>T	16.37:g.25228722C>T		Somatic		Capture	Illumina HiSeq	Phase_I	25136223	NM_001169	Q8IUU3|Q9UIA4	Silent	SNP	ENST00000219660.5	37	CCDS10626.1																																																																																				0.607	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169	
ZKSCAN2	342357	broad.mit.edu	37	16	25258306	25258306	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:25258306T>C	ENST00000328086.7	-	5	2014	c.1211A>G	c.(1210-1212)tAt>tGt	p.Y404C		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	404					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y404C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CACCTTTCGATAGCTTTTCTG	0.498																																					p.Y404C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1211G	16						.						172.0	151.0	158.0					16																	25258306		2197	4300	6497	25165807	SO:0001583	missense	342357	exon5			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1211A>G	16.37:g.25258306T>C	ENSP00000331626:p.Tyr404Cys	Somatic		Capture	Illumina HiSeq	Phase_I	25165807	NM_001012981	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955188	0.73902	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.65732	-0.17	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000018	D	0.84419	0.5468	H	0.95437	3.67	0.42123	D	0.991438	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.88765	0.3260	10	0.87932	D	0	-21.7408	12.7446	0.57273	0.0:0.0:0.0:1.0	.	200;404;404	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	C	404	ENSP00000331626:Y404C	ENSP00000331626:Y404C	Y	-	2	0	ZKSCAN2	25165807	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.640000	0.54350	2.324000	0.78689	0.533000	0.62120	TAT		0.498	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
GTF3C1	2975	broad.mit.edu	37	16	27472725	27472725	+	Silent	SNP	C	C	T	rs562028483		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:27472725C>T	ENST00000356183.4	-	37	6291	c.6276G>A	c.(6274-6276)cgG>cgA	p.R2092R	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Silent_p.R2067R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2092					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R2092R(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACGGCCCAGCCGGAGGGTAC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		18444	0.0		0.0	False		,,,				2504	0.001				p.R2092R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6276A	16						.						71.0	69.0	70.0					16																	27472725		2197	4300	6497	27380226	SO:0001819	synonymous_variant	2975	exon37			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6276G>A	16.37:g.27472725C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27380226	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																				0.642	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
CCDC64B	146439	broad.mit.edu	37	16	3080997	3080997	+	Missense_Mutation	SNP	C	C	A	rs202141775		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:3080997C>A	ENST00000572449.1	-	3	499	c.437G>T	c.(436-438)cGg>cTg	p.R146L	CCDC64B_ENST00000573514.1_5'UTR|RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.R146L			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	146								p.R146L(1)		breast(1)|endometrium(2)|large_intestine(1)	4						GGCCCGTGCCCGTTCTCGCCC	0.716																																					p.R146L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437T	16						.						12.0	16.0	15.0					16																	3080997		2036	4166	6202	3020998	SO:0001583	missense	146439	exon2			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.437G>T	16.37:g.3080997C>A	ENSP00000459043:p.Arg146Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3020998	NM_001103175	Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493450	0.44352	.	.	ENSG00000162069	ENST00000389347	T	0.04809	3.55	5.28	5.28	0.74379	.	0.273754	0.31922	N	0.006855	T	0.12390	0.0301	L	0.46157	1.445	0.33158	D	0.546575	D	0.67145	0.996	D	0.63381	0.914	T	0.09228	-1.0684	10	0.28530	T	0.3	-18.6924	12.1691	0.54148	0.0:0.8274:0.1726:0.0	.	146	A1A5D9	BICR2_HUMAN	L	146	ENSP00000373998:R146L	ENSP00000373998:R146L	R	-	2	0	CCDC64B	3020998	0.067000	0.21026	0.776000	0.31678	0.184000	0.23303	1.381000	0.34362	2.472000	0.83506	0.555000	0.69702	CGG		0.716	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1		
SEZ6L2	26470	broad.mit.edu	37	16	29907159	29907159	+	Silent	SNP	G	G	A	rs370076865		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:29907159G>A	ENST00000308713.5	-	4	1061	c.534C>T	c.(532-534)tcC>tcT	p.S178S	SEZ6L2_ENST00000350527.3_Silent_p.S108S|SEZ6L2_ENST00000537485.1_Silent_p.S134S|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	178	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.S178S(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCGCCCTCGGAGATGTTGT	0.562																																					p.S178S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534T	16						.	G	,,,	0,4394		0,0,2197	75.0	75.0	75.0		324,,324,534	-5.7	1.0	16		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,,	108/841,,108/854,178/911	29907159	1,12993	2197	4300	6497	29814660	SO:0001819	synonymous_variant	26470	exon4			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.534C>T	16.37:g.29907159G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29814660	NM_201575	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	CCDS10659.1																																																																																				0.562	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
ZNF689	115509	broad.mit.edu	37	16	30616311	30616311	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:30616311T>G	ENST00000287461.3	-	3	1114	c.777A>C	c.(775-777)aaA>aaC	p.K259N	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	259					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K259N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			ACTGGTGGGGTTTTTCACCTG	0.612																																					p.K259N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A777C	16						.						86.0	79.0	82.0					16																	30616311		2197	4300	6497	30523812	SO:0001583	missense	115509	exon3			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.777A>C	16.37:g.30616311T>G	ENSP00000287461:p.Lys259Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30523812	NM_138447	Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	t	19.97	3.925264	0.73213	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.26067	1.76	5.13	-5.87	0.02297	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000230	T	0.47469	0.1447	M	0.80332	2.49	0.36651	D	0.877407	D	0.76494	0.999	D	0.81914	0.995	T	0.62134	-0.6918	10	0.87932	D	0	-17.3169	17.1081	0.86669	0.0:0.7635:0.0:0.2365	.	259	Q96CS4	ZN689_HUMAN	N	259	ENSP00000287461:K259N	ENSP00000287461:K259N	K	-	3	2	ZNF689	30523812	0.000000	0.05858	0.947000	0.38551	0.833000	0.47200	-3.122000	0.00594	-0.941000	0.03700	0.374000	0.22700	AAA		0.612	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447	
SLX4	84464	broad.mit.edu	37	16	3658568	3658568	+	Missense_Mutation	SNP	G	G	A	rs373586019		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:3658568G>A	ENST00000294008.3	-	2	1038	c.398C>T	c.(397-399)cCg>cTg	p.P133L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	133	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.P133L(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGAGTGGGCCGGTTCACTTGC	0.562								Direct reversal of damage																													p.P133L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398T	16						.	G	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	99.0	95.0	96.0		398	-1.7	0.0	16		96	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLX4	NM_032444.2	98	0,3,6494	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	133/1835	3658568	3,12991	2197	4300	6497	3598569	SO:0001583	missense	84464	exon2			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.398C>T	16.37:g.3658568G>A	ENSP00000294008:p.Pro133Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3598569	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	9.599	1.128292	0.21041	2.28E-4	2.33E-4	ENSG00000188827	ENST00000294008	T	0.01209	5.17	5.53	-1.66	0.08265	.	1.393270	0.05012	N	0.471173	T	0.00936	0.0031	N	0.22421	0.69	0.09310	N	1	B	0.18968	0.032	B	0.08055	0.003	T	0.48822	-0.9001	10	0.44086	T	0.13	.	1.755	0.02980	0.3351:0.1296:0.4029:0.1325	.	133	Q8IY92	SLX4_HUMAN	L	133	ENSP00000294008:P133L	ENSP00000294008:P133L	P	-	2	0	SLX4	3598569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.428000	0.21395	0.059000	0.16252	-0.145000	0.13849	CCG		0.562	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
SRCAP	10847	broad.mit.edu	37	16	30734955	30734955	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:30734955C>T	ENST00000262518.4	+	25	4595	c.4210C>T	c.(4210-4212)Cca>Tca	p.P1404S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1342S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1246S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1404	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.P1404S(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCCACGTGCCATCCTCCCT	0.557																																					p.P1404S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4210T	16						.						189.0	172.0	178.0					16																	30734955		2197	4300	6497	30642456	SO:0001583	missense	10847	exon25			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4210C>T	16.37:g.30734955C>T	ENSP00000262518:p.Pro1404Ser	Somatic		Capture	Illumina HiSeq	Phase_I	30642456	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662614	0.29515	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90620	-2.7;-2.69;-2.62	4.19	3.14	0.36123	.	0.336801	0.21786	N	0.069140	T	0.80319	0.4601	N	0.14661	0.345	0.23010	N	0.998438	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.002	T	0.68573	-0.5373	10	0.38643	T	0.18	-0.471	8.759	0.34663	0.0:0.8754:0.0:0.1246	.	1246;1342;1404	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	S	1404;1342;1246	ENSP00000262518:P1404S;ENSP00000378499:P1342S;ENSP00000343042:P1246S	ENSP00000262518:P1404S	P	+	1	0	SRCAP	30642456	0.067000	0.21026	1.000000	0.80357	0.962000	0.63368	0.780000	0.26760	2.165000	0.68154	0.455000	0.32223	CCA		0.557	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
SEPT12	124404	broad.mit.edu	37	16	4833464	4833464	+	Splice_Site	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:4833464C>T	ENST00000268231.8	-	7	988	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Splice_Site_p.R196Q	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	242	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.R242Q(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GCCTCTCACCCGTAACTTGCT	0.532																																					p.R242Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725A	16						.						149.0	133.0	139.0					16																	4833464		2197	4300	6497	4773465	SO:0001630	splice_region_variant	124404	exon7			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.726+1G>A	16.37:g.4833464C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4773465	NM_144605	Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062598	0.76187	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.79554	-1.28;0.69	4.74	3.79	0.43588	.	0.053416	0.64402	N	0.000001	D	0.84279	0.5437	M	0.71581	2.175	0.46981	D	0.999276	D;D	0.56968	0.972;0.978	P;P	0.54210	0.629;0.745	D	0.85481	0.1179	10	0.66056	D	0.02	.	11.5464	0.50696	0.0:0.9122:0.0:0.0878	.	196;242	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	Q	196;242	ENSP00000379922:R196Q;ENSP00000268231:R242Q	ENSP00000268231:R242Q	R	-	2	0	SEPT12	4773465	1.000000	0.71417	0.995000	0.50966	0.367000	0.29736	7.493000	0.81493	1.233000	0.43693	0.462000	0.41574	CGG		0.532	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605	Missense_Mutation
SHCBP1	79801	broad.mit.edu	37	16	46649962	46649962	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:46649962C>A	ENST00000303383.3	-	4	758	c.492G>T	c.(490-492)gaG>gaT	p.E164D		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	164					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.E164D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GATCAAGGAGCTCCTTCATGC	0.517																																					p.E164D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G492T	16						.						112.0	105.0	107.0					16																	46649962		2203	4300	6503	45207463	SO:0001583	missense	79801	exon4			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.492G>T	16.37:g.46649962C>A	ENSP00000306473:p.Glu164Asp	Somatic		Capture	Illumina HiSeq	Phase_I	45207463	NM_024745	Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	.	4.587	0.109121	0.08780	.	.	ENSG00000171241	ENST00000303383	T	0.23754	1.89	3.91	0.553	0.17235	.	0.246452	0.39985	N	0.001219	T	0.16041	0.0386	L	0.38531	1.155	0.29816	N	0.831248	B	0.16166	0.016	B	0.10450	0.005	T	0.09574	-1.0668	10	0.35671	T	0.21	-10.2211	6.1273	0.20186	0.0:0.5192:0.1372:0.3437	.	164	Q8NEM2	SHCBP_HUMAN	D	164	ENSP00000306473:E164D	ENSP00000306473:E164D	E	-	3	2	SHCBP1	45207463	0.936000	0.31750	0.940000	0.37924	0.458000	0.32498	-0.066000	0.11598	0.311000	0.23014	-0.439000	0.05793	GAG		0.517	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745	
CBLN1	869	broad.mit.edu	37	16	49314897	49314897	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:49314897C>T	ENST00000219197.6	-	2	686	c.321G>A	c.(319-321)ccG>ccA	p.P107P	CBLN1_ENST00000536749.1_Silent_p.P107P	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	107	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)		p.P107P(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TCCCTTTGCGCGGGGCGATGA	0.537																																					p.P107P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G321A	16						.						127.0	123.0	125.0					16																	49314897		2200	4300	6500	47872398	SO:0001819	synonymous_variant	869	exon2			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.321G>A	16.37:g.49314897C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47872398	NM_004352	B2RAN9|P02682|Q52M09	Silent	SNP	ENST00000219197.6	37	CCDS10736.1																																																																																				0.537	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352	
SLC12A3	6559	broad.mit.edu	37	16	56917997	56917997	+	Missense_Mutation	SNP	C	C	T	rs79351185		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:56917997C>T	ENST00000563236.1	+	14	1731	c.1706C>T	c.(1705-1707)gCg>gTg	p.A569V	SLC12A3_ENST00000438926.2_Missense_Mutation_p.A569V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A568V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A568V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	569			A -> E (in GS). {ECO:0000269|PubMed:10616841}.|A -> V (in GS). {ECO:0000269|PubMed:15069170}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.A569V(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AACAAGTGGGCGGCGCTGTTT	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18910	0.0		0.0	False		,,,				2504	0.0				p.A569V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1706T	16	GRCh37	CM002107	SLC12A3	M	rs79351185	.	C	VAL/ALA,VAL/ALA,VAL/ALA	0,4396		0,0,2198	178.0	140.0	153.0		1706,1703,1706	3.6	0.9	16	dbSNP_131	153	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	64,64,64	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	569/1031,568/1030,569/1022	56917997	2,12994	2198	4300	6498	55475498	SO:0001583	missense	6559	exon14				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1706C>T	16.37:g.56917997C>T	ENSP00000456149:p.Ala569Val	Somatic		Capture	Illumina HiSeq	Phase_I	55475498	NM_000339	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.463	-0.888241	0.02511	0.0	2.33E-4	ENSG00000070915	ENST00000438926;ENST00000262502	D	0.98822	-5.16	4.77	3.58	0.41010	Amino acid permease domain (1);	0.516189	0.20779	N	0.085822	D	0.93569	0.7947	N	0.05012	-0.13	0.27896	N	0.93916	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.001;0.005;0.003	T	0.82971	-0.0192	10	0.07482	T	0.82	.	13.8249	0.63343	0.0:0.9113:0.0:0.0887	.	568;569;569	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	568;569	ENSP00000262502:A569V	ENSP00000262502:A569V	A	+	2	0	SLC12A3	55475498	0.038000	0.19896	0.947000	0.38551	0.407000	0.30961	1.051000	0.30417	2.193000	0.70182	0.462000	0.41574	GCG		0.592	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
CIAPIN1	57019	broad.mit.edu	37	16	57466420	57466420	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:57466420G>A	ENST00000569979.1	-	5	655	c.609C>T	c.(607-609)aaC>aaT	p.N203N	CIAPIN1_ENST00000568940.1_Silent_p.N203N|CIAPIN1_ENST00000569370.1_Silent_p.N203N|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000394391.4_Silent_p.N203N|CIAPIN1_ENST00000565961.1_Silent_p.N176N|CIAPIN1_ENST00000567518.1_Silent_p.N190N					cytokine induced apoptosis inhibitor 1									p.N203N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCTCCATATCGTTGGCTGAGA	0.493																																					p.N203N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C609T	16						.						92.0	90.0	91.0					16																	57466420		1991	4183	6174	56023921	SO:0001819	synonymous_variant	57019	exon6			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.609C>T	16.37:g.57466420G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56023921	NM_020313		Silent	SNP	ENST00000569979.1	37																																																																																					0.493	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313	
GPR97	222487	broad.mit.edu	37	16	57707335	57707335	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:57707335G>A	ENST00000333493.4	+	2	322	c.161G>A	c.(160-162)tGc>tAc	p.C54Y	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	54					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C54Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCACCAAGTGCAGGCAGTCG	0.562																																					p.C54Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	16						.						80.0	69.0	73.0					16																	57707335		2198	4300	6498	56264836	SO:0001583	missense	222487	exon2			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.161G>A	16.37:g.57707335G>A	ENSP00000332900:p.Cys54Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	56264836	NM_170776	Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521207	0.44866	.	.	ENSG00000182885	ENST00000333493	T	0.40225	1.04	3.55	3.55	0.40652	.	0.000000	0.44285	D	0.000480	T	0.57330	0.2046	L	0.59436	1.845	0.49687	D	0.999811	D	0.89917	1.0	D	0.87578	0.998	T	0.60393	-0.7272	10	0.87932	D	0	.	10.9506	0.47327	0.0:0.0:1.0:0.0	.	54	Q86Y34	GPR97_HUMAN	Y	54	ENSP00000332900:C54Y	ENSP00000332900:C54Y	C	+	2	0	GPR97	56264836	0.824000	0.29247	0.057000	0.19452	0.057000	0.15508	3.812000	0.55628	2.282000	0.76494	0.655000	0.94253	TGC		0.562	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776	
CDH16	1014	broad.mit.edu	37	16	66949162	66949162	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:66949162G>A	ENST00000299752.4	-	6	737	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	CDH16_ENST00000568632.1_Intron|CDH16_ENST00000565796.1_Silent_p.L182L|CDH16_ENST00000570262.1_Silent_p.L102L|CDH16_ENST00000394055.3_Silent_p.L182L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	182	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L182L(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CGAGGCTCCAGCTGGAACATG	0.637																																					p.L182L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C544T	16						.						40.0	43.0	42.0					16																	66949162		2200	4300	6500	65506663	SO:0001819	synonymous_variant	1014	exon6			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.544C>T	16.37:g.66949162G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65506663	NM_004062	B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	CCDS10823.1																																																																																				0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
C16orf70	80262	broad.mit.edu	37	16	67183605	67183605	+	IGR	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:67183605G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.R262W	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70									p.R262W(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGGATGGGCCGCGCATGCACA	0.652																																					p.R262W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C784T	16						.																																			65741106	SO:0001628	intergenic_variant	84752	exon2			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183605G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65741106	NM_033309	Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	g	18.18	3.567727	0.65651	.	.	ENSG00000237172	ENST00000449549	T	0.44482	0.92	5.02	2.97	0.34412	.	.	.	.	.	T	0.36220	0.0959	L	0.47016	1.485	0.27365	N	0.955853	P	0.45957	0.869	B	0.40565	0.333	T	0.09250	-1.0683	9	0.37606	T	0.19	-8.241	11.7062	0.51599	0.0:0.0:0.5236:0.4763	.	262	Q6UX72	B3GN9_HUMAN	W	262	ENSP00000400157:R262W	ENSP00000400157:R262W	R	-	1	2	B3GNT9	65741106	0.656000	0.27385	0.912000	0.35992	0.798000	0.45092	3.229000	0.51278	0.451000	0.26802	0.556000	0.70494	CGG		0.652	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	
CDH1	999	broad.mit.edu	37	16	68846122	68846122	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:68846122G>A	ENST00000261769.5	+	8	1284	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.V365I|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	365	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.V365I(1)|p.S337_T379del(1)|p.?(1)|p.V365L(1)		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)		TGTGATCACAGTCACTGACAC	0.463			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																												p.V365I		yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	CDH1,stomach,NS,Substitution - Missense,0 	.	4	Substitution - Missense(2)|Unknown(1)|Deletion - In frame(1)	stomach(2)|large_intestine(1)|breast(1)	c.G1093A	16						.						205.0	153.0	170.0					16																	68846122		2198	4300	6498	67403623	SO:0001583	missense	999	exon8	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.1093G>A	16.37:g.68846122G>A	ENSP00000261769:p.Val365Ile	Somatic		Capture	Illumina HiSeq	Phase_I	67403623	NM_004360	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146440	0.57044	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.61510	0.1;0.1	5.93	3.99	0.46301	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.144780	0.31495	N	0.007543	T	0.52468	0.1736	L	0.27053	0.805	0.47862	D	0.999538	B;B	0.28470	0.207;0.213	P;B	0.45474	0.482;0.289	T	0.35549	-0.9784	10	0.10902	T	0.67	.	11.9339	0.52862	0.1405:0.0:0.8595:0.0	.	365;365	Q9UII8;P12830	.;CADH1_HUMAN	I	365	ENSP00000261769:V365I;ENSP00000414946:V365I	ENSP00000261769:V365I	V	+	1	0	CDH1	67403623	1.000000	0.71417	0.048000	0.18961	0.497000	0.33675	3.302000	0.51849	0.855000	0.35359	0.555000	0.69702	GTC		0.463	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
DHX38	9785	broad.mit.edu	37	16	72130240	72130240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:72130240C>T	ENST00000268482.3	+	2	693	c.184C>T	c.(184-186)Cga>Tga	p.R62*	TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Nonsense_Mutation_p.R62*|TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000268483.3_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	62					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R62*(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACGGAGAGAGCGAGAGGAGAA	0.557																																					p.R62X	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C184T	16						.						72.0	68.0	69.0					16																	72130240		2198	4300	6498	70687741	SO:0001587	stop_gained	9785	exon2			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.184C>T	16.37:g.72130240C>T	ENSP00000268482:p.Arg62*	Somatic		Capture	Illumina HiSeq	Phase_I	70687741	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Nonsense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	36	5.683201	0.96774	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	.	.	.	4.69	2.68	0.31781	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	11.2346	0.48933	0.3567:0.6433:0.0:0.0	.	.	.	.	X	62	.	ENSP00000268482:R62X	R	+	1	2	DHX38	70687741	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.185000	0.50934	0.477000	0.27464	0.561000	0.74099	CGA		0.557	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
DHX38	9785	broad.mit.edu	37	16	72130813	72130813	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:72130813G>A	ENST00000268482.3	+	3	925	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	139					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R139Q(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAGCGGGAGCGGCGGGAACAT	0.537																																					p.R139Q	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	16						.						153.0	149.0	150.0					16																	72130813		2198	4300	6498	70688314	SO:0001583	missense	9785	exon3			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.416G>A	16.37:g.72130813G>A	ENSP00000268482:p.Arg139Gln	Somatic		Capture	Illumina HiSeq	Phase_I	70688314	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292828	0.95546	.	.	ENSG00000140829	ENST00000268482	T	0.02974	4.09	5.12	5.12	0.69794	.	0.066344	0.56097	D	0.000021	T	0.04497	0.0123	M	0.69185	2.1	0.80722	D	1	P	0.35348	0.496	B	0.22386	0.039	T	0.51545	-0.8692	10	0.18276	T	0.48	.	18.9235	0.92536	0.0:0.0:1.0:0.0	.	139	Q92620	PRP16_HUMAN	Q	139	ENSP00000268482:R139Q	ENSP00000268482:R139Q	R	+	2	0	DHX38	70688314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.119000	0.94362	2.529000	0.85273	0.561000	0.74099	CGG		0.537	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
ZFHX3	463	broad.mit.edu	37	16	72993575	72993575	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:72993575C>A	ENST00000268489.5	-	2	1142	c.470G>T	c.(469-471)tGt>tTt	p.C157F	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	157					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C157F(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCACTCCCACAGGCGCCCCC	0.677																																					p.C157F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470T	16						.						29.0	35.0	33.0					16																	72993575		2198	4299	6497	71551076	SO:0001583	missense	463	exon2			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.470G>T	16.37:g.72993575C>A	ENSP00000268489:p.Cys157Phe	Somatic		Capture	Illumina HiSeq	Phase_I	71551076	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	1.959	-0.439416	0.04636	.	.	ENSG00000140836	ENST00000268489	T	0.72505	-0.66	4.81	4.81	0.61882	.	0.000000	0.52532	D	0.000070	T	0.63686	0.2532	L	0.38175	1.15	0.80722	D	1	P	0.49961	0.93	P	0.44673	0.457	T	0.60969	-0.7157	10	0.20519	T	0.43	.	15.7431	0.77918	0.0:1.0:0.0:0.0	.	157	Q15911	ZFHX3_HUMAN	F	157	ENSP00000268489:C157F	ENSP00000268489:C157F	C	-	2	0	ZFHX3	71551076	0.026000	0.19158	0.007000	0.13788	0.077000	0.17291	2.720000	0.47252	2.379000	0.81126	0.462000	0.41574	TGT		0.677	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
MON1B	22879	broad.mit.edu	37	16	77227572	77227572	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:77227572C>T	ENST00000248248.3	+	3	723	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	MON1B_ENST00000545553.1_Intron|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	125								p.R125W(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CATCTACTCGCGGTATGGTAG	0.617																																					p.R125W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C373T	16						.						95.0	84.0	88.0					16																	77227572		2198	4300	6498	75785073	SO:0001583	missense	22879	exon3			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.373C>T	16.37:g.77227572C>T	ENSP00000248248:p.Arg125Trp	Somatic		Capture	Illumina HiSeq	Phase_I	75785073	NM_014940	B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857668	0.71834	.	.	ENSG00000103111	ENST00000248248	.	.	.	4.53	2.5	0.30297	.	0.000000	0.64402	D	0.000002	D	0.84817	0.5556	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87081	0.2166	9	0.72032	D	0.01	.	13.0851	0.59135	0.1928:0.8072:0.0:0.0	.	125	Q7L1V2	MON1B_HUMAN	W	125	.	ENSP00000248248:R125W	R	+	1	2	MON1B	75785073	0.948000	0.32251	0.095000	0.20976	0.959000	0.62525	2.192000	0.42649	0.396000	0.25283	0.563000	0.77884	CGG		0.617	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940	
METTL22	79091	broad.mit.edu	37	16	8722640	8722640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:8722640G>T	ENST00000381920.3	+	3	445	c.187G>T	c.(187-189)Gga>Tga	p.G63*	METTL22_ENST00000561758.1_Nonsense_Mutation_p.G63*	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	63						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.G63*(1)		large_intestine(5)|lung(4)	9						GACAGATTCAGGAGCCAAGGG	0.493																																					p.G63X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G187T	16						.						60.0	63.0	62.0					16																	8722640		1941	4164	6105	8630141	SO:0001587	stop_gained	79091	exon3			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.187G>T	16.37:g.8722640G>T	ENSP00000371345:p.Gly63*	Somatic		Capture	Illumina HiSeq	Phase_I	8630141	NM_024109	B2RD29|D3DUF2|Q6XYB4|Q9HA03	Nonsense_Mutation	SNP	ENST00000381920.3	37	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518659	0.85495	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	.	.	.	5.43	4.45	0.53987	.	0.552403	0.15422	N	0.263212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-19.6776	6.6033	0.22712	0.1012:0.2368:0.662:0.0	.	.	.	.	X	63	.	ENSP00000163678:G63X	G	+	1	0	METTL22	8630141	0.273000	0.24181	0.104000	0.21259	0.275000	0.26752	0.832000	0.27490	2.545000	0.85829	0.561000	0.74099	GGA		0.493	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109	
MTHFSD	64779	broad.mit.edu	37	16	86588312	86588312	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:86588312A>G	ENST00000360900.6	-	2	87	c.62T>C	c.(61-63)aTg>aCg	p.M21T	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Missense_Mutation_p.M20T|MTHFSD_ENST00000322911.6_Missense_Mutation_p.M20T|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000381214.5_Missense_Mutation_p.M21T	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	21							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M20T(1)|p.M21T(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TTGTGATTCCATGTAGCCCCA	0.408																																					p.M20T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T59C	16						.						196.0	194.0	195.0					16																	86588312		1868	4112	5980	85145813	SO:0001583	missense	64779	exon2			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.62T>C	16.37:g.86588312A>G	ENSP00000354152:p.Met21Thr	Somatic		Capture	Illumina HiSeq	Phase_I	85145813	NM_022764	A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978693	0.74360	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911	T;T;T	0.47177	0.85;0.85;0.85	5.4	5.4	0.78164	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.188947	0.56097	D	0.000024	T	0.62344	0.2420	M	0.79475	2.455	0.39059	D	0.960493	D;D;D;D	0.55800	0.973;0.973;0.973;0.967	P;P;P;P	0.53401	0.725;0.725;0.725;0.604	T	0.71083	-0.4695	10	0.87932	D	0	-16.936	14.6259	0.68621	1.0:0.0:0.0:0.0	.	21;20;21;20	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	T	19;21;21;20	ENSP00000370612:M21T;ENSP00000354152:M21T;ENSP00000326777:M20T	ENSP00000326777:M20T	M	-	2	0	MTHFSD	85145813	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.982000	0.88131	2.048000	0.60808	0.459000	0.35465	ATG		0.408	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764	
GALNS	2588	broad.mit.edu	37	16	88901747	88901747	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:88901747C>T	ENST00000268695.5	-	8	860	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	GALNS_ENST00000542788.1_Missense_Mutation_p.V183I	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	258	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.V258I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		ATCTCCCGGACGGCGTCTCCA	0.552																																					p.V258I	GBM(129;1929 2344 25209 33204)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G772A	16						.						119.0	87.0	98.0					16																	88901747		2198	4300	6498	87429248	SO:0001583	missense	2588	exon8			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.772G>A	16.37:g.88901747C>T	ENSP00000268695:p.Val258Ile	Somatic		Capture	Illumina HiSeq	Phase_I	87429248	NM_000512	Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589592	0.46214	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.93859	-3.3;-3.3	5.14	3.18	0.36537	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.055616	0.64402	N	0.000001	D	0.85831	0.5788	N	0.21545	0.675	0.58432	D	0.999999	B;B	0.32829	0.113;0.386	B;B	0.29077	0.062;0.098	T	0.79680	-0.1702	10	0.25106	T	0.35	.	11.449	0.50140	0.0:0.8522:0.0:0.1478	.	258;258	B2R6P1;P34059	.;GALNS_HUMAN	I	258;183	ENSP00000268695:V258I;ENSP00000438197:V183I	ENSP00000268695:V258I	V	-	1	0	GALNS	87429248	0.970000	0.33590	0.607000	0.28956	0.872000	0.50106	2.380000	0.44327	0.571000	0.29365	0.555000	0.69702	GTC		0.552	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1		
USP7	7874	broad.mit.edu	37	16	8988948	8988948	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:8988948C>T	ENST00000344836.4	-	28	3177	c.2979G>A	c.(2977-2979)gcG>gcA	p.A993A	USP7_ENST00000535863.1_Silent_p.A894A|USP7_ENST00000381886.4_Silent_p.A977A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	993					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)	p.A993A(1)		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						TGTGGAAATGCGCCACTGTGA	0.502																																					p.A993A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2979A	16						.						266.0	247.0	254.0					16																	8988948		2197	4300	6497	8896449	SO:0001819	synonymous_variant	7874	exon28			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.2979G>A	16.37:g.8988948C>T		Somatic		Capture	Illumina HiSeq	Phase_I	8896449	NM_003470	A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	CCDS32385.1																																																																																				0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
ARL2BP	23568	broad.mit.edu	37	16	57279291	57279293	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	AGA	AGA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:57279291_57279293delAGA	ENST00000219204.3	+	1	282_284	c.12_14delAGA	c.(10-15)ttagaa>tta	p.E5del	RP11-407G23.4_ENST00000562409.1_RNA|ARL2BP_ENST00000562023.1_In_Frame_Del_p.E5del|ARL2BP_ENST00000565794.1_3'UTR	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	5					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)	p.E5delE(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TGGACGCCTTAGAAGGAGAGAGC	0.695																																					p.4_5del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.12_14del	16						.																																			55836794	SO:0001651	inframe_deletion	23568	exon1			AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.12_14delAGA	16.37:g.57279291_57279293delAGA	ENSP00000219204:p.Glu5del	Somatic		Capture	Illumina HiSeq	Phase_I	55836792	NM_012106	B3KQJ5|Q504R0	In_Frame_Del	DEL	ENST00000219204.3	37	CCDS10776.1																																																																																				0.695	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2	NM_012106	
ARL2BP	23568	broad.mit.edu	37	16	57286141	57286143	+	In_Frame_Del	DEL	TCT	TCT	-	rs113223384		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	TCT	TCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:57286141_57286143delTCT	ENST00000219204.3	+	6	724_726	c.454_456delTCT	c.(454-456)tctdel	p.S153del	ARL2BP_ENST00000562023.1_In_Frame_Del_p.S113del|RP11-407G23.3_ENST00000564376.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	153					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)	p.S152delS(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						GTGCAAATCATCTTCTCTGCCAG	0.473																																					p.152_152del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.454_456del	16						.																																			55843644	SO:0001651	inframe_deletion	23568	exon6			AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.454_456delTCT	16.37:g.57286144_57286146delTCT	ENSP00000219204:p.Ser153del	Somatic		Capture	Illumina HiSeq	Phase_I	55843642	NM_012106	B3KQJ5|Q504R0	In_Frame_Del	DEL	ENST00000219204.3	37	CCDS10776.1																																																																																				0.473	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2	NM_012106	
CCDC79	283847	broad.mit.edu	37	16	66819754	66819754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:66819754delT	ENST00000558713.2	-	8	707	c.635delA	c.(634-636)aatfs	p.N212fs	CCDC79_ENST00000415744.1_Frame_Shift_Del_p.N212fs|CCDC79_ENST00000433154.1_Frame_Shift_Del_p.N212fs|CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000432602.1_Frame_Shift_Del_p.N212fs|CCDC79_ENST00000433574.1_Frame_Shift_Del_p.N212fs			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	212					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N212fs*7(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						TGTCGTGCAATTTTTTAGCCA	0.348																																					p.N212fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.635delA	16						.						97.0	82.0	87.0					16																	66819754		692	1590	2282	65377255	SO:0001589	frameshift_variant	283847	exon9			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.635delA	16.37:g.66819754delT	ENSP00000462883:p.Asn212fs	Somatic		Capture	Illumina HiSeq	Phase_I	65377255	NM_001136505	A0AUW1	Frame_Shift_Del	DEL	ENST00000558713.2	37																																																																																					0.348	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000418864.2		
ZC3H18	124245	broad.mit.edu	37	16	88691141	88691141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:88691141delC	ENST00000301011.5	+	12	2230	c.2030delC	c.(2029-2031)accfs	p.T677fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.T701fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	677	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCCAGGACCCCCCCCAGG	0.667																																					p.T677fs	Ovarian(121;375 2276 20373 38669)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2030delC	16						.						24.0	38.0	33.0					16																	88691141		2192	4300	6492	87218642	SO:0001589	frameshift_variant	124245	exon12			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2030delC	16.37:g.88691141delC	ENSP00000301011:p.Thr677fs	Somatic		Capture	Illumina HiSeq	Phase_I	87218642	NM_144604	Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	CCDS10967.1																																																																																				0.667	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
ANKRD11	29123	broad.mit.edu	37	16	89357134	89357134	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr16:89357134C>T	ENST00000301030.4	-	6	960	c.500G>A	c.(499-501)cGt>cAt	p.R167H	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R167H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	167					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R167H(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGTCTCTCCACGCTCGTTTCT	0.582																																					p.R167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	16						.						61.0	59.0	60.0					16																	89357134		2198	4300	6498	87884635	SO:0001583	missense	29123	exon6			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.500G>A	16.37:g.89357134C>T	ENSP00000301030:p.Arg167His	Somatic		Capture	Illumina HiSeq	Phase_I	87884635	NM_013275	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	37	5.992137	0.97179	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.33865	1.39;1.39	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	N	0.21545	0.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.995	T	0.53556	-0.8422	10	0.87932	D	0	.	19.6454	0.95775	0.0:1.0:0.0:0.0	.	167;181;167	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	H	167;167;181	ENSP00000301030:R167H;ENSP00000367581:R167H	ENSP00000301030:R167H	R	-	2	0	ANKRD11	87884635	1.000000	0.71417	0.964000	0.40570	0.949000	0.60115	7.669000	0.83911	2.714000	0.92807	0.561000	0.74099	CGT		0.582	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
CCDC47	57003	broad.mit.edu	37	17	61843388	61843389	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:61843388_61843389insAG	ENST00000225726.5	-	2	529_530	c.147_148insCT	c.(145-150)tctgttfs	p.V50fs	CCDC47_ENST00000403162.3_Frame_Shift_Ins_p.V50fs|CCDC47_ENST00000582252.1_Frame_Shift_Ins_p.V50fs	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	50					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.V50fs*10(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GATTCAGTAACAGAGTCTTCCA	0.421																																					p.V50fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.148_149insCT	17						.																																			59197121	SO:0001589	frameshift_variant	57003	exon2			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.146_147dupCT	17.37:g.61843391_61843392dupAG	ENSP00000225726:p.Val50fs	Somatic		Capture	Illumina HiSeq	Phase_I	59197120	NM_020198	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Frame_Shift_Ins	INS	ENST00000225726.5	37	CCDS11643.1																																																																																				0.421	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	
MYH4	4622	broad.mit.edu	37	17	10353794	10353794	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:10353794C>T	ENST00000255381.2	-	30	4267	c.4157G>A	c.(4156-4158)cGc>cAc	p.R1386H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1386					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1386H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCTCTGTGCGCTGGATGGC	0.522																																					p.R1386H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4157A	17						.						150.0	137.0	141.0					17																	10353794		2203	4300	6503	10294519	SO:0001583	missense	4622	exon30				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4157G>A	17.37:g.10353794C>T	ENSP00000255381:p.Arg1386His	Somatic		Capture	Illumina HiSeq	Phase_I	10294519	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075236	0.94000	.	.	ENSG00000141048	ENST00000255381	T	0.80480	-1.38	5.67	5.67	0.87782	Myosin tail (1);	0.000000	0.38272	U	0.001748	D	0.90940	0.7152	M	0.82823	2.61	0.49798	D	0.999821	D	0.89917	1.0	D	0.81914	0.995	D	0.91303	0.5068	10	0.87932	D	0	.	20.1979	0.98245	0.0:1.0:0.0:0.0	.	1386	Q9Y623	MYH4_HUMAN	H	1386	ENSP00000255381:R1386H	ENSP00000255381:R1386H	R	-	2	0	MYH4	10294519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.846000	0.97976	0.650000	0.86243	CGC		0.522	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
YWHAE	7531	broad.mit.edu	37	17	1303373	1303373	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:1303373G>A	ENST00000264335.8	-	1	299	c.32C>T	c.(31-33)gCg>gTg	p.A11V	YWHAE_ENST00000573026.1_Missense_Mutation_p.A11V|YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Missense_Mutation_p.A11V	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	11					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.A11V(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GGCCAGCTTCGCCTGGTACAC	0.657			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																														p.A11V			Dom	yes		17	17p13.3	7531	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C32T	17						.						68.0	66.0	66.0					17																	1303373		2203	4300	6503	1250123	SO:0001583	missense	7531	exon1			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.32C>T	17.37:g.1303373G>A	ENSP00000264335:p.Ala11Val	Somatic		Capture	Illumina HiSeq	Phase_I	1250123	NM_006761	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601860	0.96614	.	.	ENSG00000108953	ENST00000264335	T	0.57907	0.37	4.66	4.66	0.58398	14-3-3 domain (4);	0.068065	0.56097	U	0.000021	T	0.81322	0.4798	H	0.96633	3.855	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.87648	0.2526	10	0.87932	D	0	0.3675	15.0746	0.72066	0.0:0.0:1.0:0.0	.	11	P62258	1433E_HUMAN	V	11	ENSP00000264335:A11V	ENSP00000264335:A11V	A	-	2	0	YWHAE	1250123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.076000	0.71267	2.426000	0.82243	0.484000	0.47621	GCG		0.657	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761	
DNAH9	1770	broad.mit.edu	37	17	11784619	11784619	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:11784619G>A	ENST00000262442.4	+	55	10763	c.10695G>A	c.(10693-10695)gaG>gaA	p.E3565E	DNAH9_ENST00000608377.1_5'Flank|DNAH9_ENST00000454412.2_Silent_p.E3565E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3565	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E3565E(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCAGCCTGAGCTGCAGGCTC	0.542																																					p.E3565E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G10695A	17						.						73.0	68.0	69.0					17																	11784619		2203	4300	6503	11725344	SO:0001819	synonymous_variant	1770	exon55			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10695G>A	17.37:g.11784619G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11725344	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
PRPF8	10594	broad.mit.edu	37	17	1557246	1557246	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:1557246C>T	ENST00000572621.1	-	37	6317	c.6052G>A	c.(6052-6054)Gca>Aca	p.A2018T	PRPF8_ENST00000304992.6_Missense_Mutation_p.A2018T|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2018	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.A2018T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTGACGGTGCCGAGATCTCC	0.527																																					p.A2018T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6052A	17						.						308.0	238.0	262.0					17																	1557246		2203	4300	6503	1503996	SO:0001583	missense	10594	exon38			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6052G>A	17.37:g.1557246C>T	ENSP00000460348:p.Ala2018Thr	Somatic		Capture	Illumina HiSeq	Phase_I	1503996	NM_006445	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961869	0.74016	.	.	ENSG00000174231	ENST00000304992	T	0.80909	-1.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	M	0.84511	2.7	0.80722	D	1	P	0.39071	0.658	B	0.43386	0.418	T	0.81317	-0.0987	10	0.11182	T	0.66	-12.9448	19.8676	0.96824	0.0:1.0:0.0:0.0	.	2018	Q6P2Q9	PRP8_HUMAN	T	2018	ENSP00000304350:A2018T	ENSP00000304350:A2018T	A	-	1	0	PRPF8	1503996	1.000000	0.71417	0.386000	0.26170	0.996000	0.88848	7.594000	0.82698	2.941000	0.99782	0.655000	0.94253	GCA		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
MYOCD	93649	broad.mit.edu	37	17	12608457	12608457	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:12608457G>T	ENST00000343344.4	+	2	68	c.68G>T	c.(67-69)aGa>aTa	p.R23I	MYOCD_ENST00000425538.1_Missense_Mutation_p.R23I|AC005358.3_ENST00000445508.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	23					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R23I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTACAGTTAAGACTTCAACAA	0.368																																					p.R23I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68T	17						.						108.0	89.0	95.0					17																	12608457		2203	4300	6503	12549182	SO:0001583	missense	93649	exon2			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.68G>T	17.37:g.12608457G>T	ENSP00000341835:p.Arg23Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12549182	NM_001146312	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202870	0.79127	.	.	ENSG00000141052	ENST00000425538;ENST00000343344	T	0.55413	0.52	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	T	0.73962	-0.3817	10	0.87932	D	0	-19.9451	14.4119	0.67119	0.0:0.0:1.0:0.0	.	23;23	Q8IZQ8-3;Q8IZQ8	.;MYCD_HUMAN	I	23	ENSP00000341835:R23I	ENSP00000341835:R23I	R	+	2	0	MYOCD	12549182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.784000	0.68990	2.865000	0.98341	0.655000	0.94253	AGA		0.368	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
CLUH	23277	broad.mit.edu	37	17	2601322	2601322	+	Missense_Mutation	SNP	G	G	A	rs374090140		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:2601322G>A	ENST00000570628.2	-	10	1820	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	CLUH_ENST00000435359.1_Missense_Mutation_p.P572L|CLUH_ENST00000538975.1_Missense_Mutation_p.P572L			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	572					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.P572L(1)									GTTGAGGTCCGGGGGGAAGGT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		16699	0.0		0.0	False		,,,				2504	0.001				p.P572L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1715T	17						.	G	LEU/PRO	1,4301		0,1,2150	39.0	51.0	47.0		1715	5.7	0.3	17		47	0,8500		0,0,4250	no	missense	KIAA0664	NM_015229.3	98	0,1,6400	AA,AG,GG		0.0,0.0232,0.0078	probably-damaging	572/1310	2601322	1,12801	2151	4250	6401	2548072	SO:0001583	missense	23277	exon10			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1715C>T	17.37:g.2601322G>A	ENSP00000458986:p.Pro572Leu	Somatic		Capture	Illumina HiSeq	Phase_I	2548072	NM_015229	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212669	0.95069	2.32E-4	0.0	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80480	-1.38;-1.38	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.83917	0.5358	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.986;0.998	T	0.76675	-0.2872	10	0.02654	T	1	.	18.8828	0.92364	0.0:0.0:1.0:0.0	.	572;572	O75153;C9J6D7	K0664_HUMAN;.	L	572	ENSP00000388872:P572L;ENSP00000439628:P572L	ENSP00000320468:P572L	P	-	2	0	KIAA0664	2548072	1.000000	0.71417	0.293000	0.24932	0.819000	0.46315	9.476000	0.97823	2.711000	0.92665	0.655000	0.94253	CCG		0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229	
CLUH	23277	broad.mit.edu	37	17	2604777	2604777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:2604777C>T	ENST00000570628.2	-	6	773	c.668G>A	c.(667-669)tGg>tAg	p.W223*	CLUH_ENST00000435359.1_Nonsense_Mutation_p.W223*|CLUH_ENST00000538975.1_Nonsense_Mutation_p.W223*			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	223					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.W223*(1)									GGGCGGGTTCCATCCGCTCAT	0.657																																					p.W223X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G668A	17						.						30.0	35.0	34.0					17																	2604777		1991	4156	6147	2551527	SO:0001587	stop_gained	23277	exon6			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.668G>A	17.37:g.2604777C>T	ENSP00000458986:p.Trp223*	Somatic		Capture	Illumina HiSeq	Phase_I	2551527	NM_015229	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Nonsense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	38	6.646534	0.97730	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.898	0.86106	0.0:1.0:0.0:0.0	.	.	.	.	X	223	.	ENSP00000320468:W223X	W	-	2	0	KIAA0664	2551527	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.617000	0.83032	2.476000	0.83614	0.591000	0.81541	TGG		0.657	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229	
SLC13A2	9058	broad.mit.edu	37	17	26816245	26816245	+	Missense_Mutation	SNP	C	C	T	rs78103056		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:26816245C>T	ENST00000314669.5	+	2	536	c.116C>T	c.(115-117)gCg>gTg	p.A39V	SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000444914.3_Missense_Mutation_p.A39V	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	39					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.A39V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCCTACTGCGCGTATGCCATC	0.607																																					p.A39V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C116T	17						.						120.0	90.0	100.0					17																	26816245		2203	4300	6503	23840372	SO:0001583	missense	9058	exon2			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.116C>T	17.37:g.26816245C>T	ENSP00000316202:p.Ala39Val	Somatic		Capture	Illumina HiSeq	Phase_I	23840372	NM_001145975	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735333	0.48939	.	.	ENSG00000007216	ENST00000314669;ENST00000444914	T;T	0.02944	4.1;4.1	5.74	0.867	0.19085	.	0.144533	0.64402	D	0.000010	T	0.15046	0.0363	M	0.73372	2.23	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.941;0.987	T	0.14980	-1.0453	10	0.52906	T	0.07	.	22.2343	0.99968	0.0:0.267:0.733:0.0	.	39;39	E7ETH5;Q13183	.;S13A2_HUMAN	V	39	ENSP00000316202:A39V;ENSP00000392411:A39V	ENSP00000316202:A39V	A	+	2	0	SLC13A2	23840372	0.614000	0.27017	0.193000	0.23327	0.025000	0.11179	0.946000	0.29069	0.247000	0.21414	0.558000	0.71614	GCG		0.607	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
ATAD5	79915	broad.mit.edu	37	17	29196369	29196369	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:29196369T>C	ENST00000321990.4	+	13	3795	c.3417T>C	c.(3415-3417)acT>acC	p.T1139T		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1139					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.T1139T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGGGAAAAACTGCTGCAGTGT	0.413																																					p.T1139T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3417C	17						.						166.0	155.0	158.0					17																	29196369		2203	4300	6503	26220495	SO:0001819	synonymous_variant	79915	exon13				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3417T>C	17.37:g.29196369T>C		Somatic		Capture	Illumina HiSeq	Phase_I	26220495	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	CCDS11260.1																																																																																				0.413	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
OR1E2	8388	broad.mit.edu	37	17	3336709	3336709	+	Missense_Mutation	SNP	C	C	T	rs112466079		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:3336709C>T	ENST00000248384.1	-	1	426	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	143					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.A143T(1)		endometrium(3)|large_intestine(3)|lung(3)	9						CTCATGATGGCGGTGTAGTGC	0.572																																					p.A143T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	17						.						86.0	73.0	77.0					17																	3336709		2203	4300	6503	3283459	SO:0001583	missense	8388	exon1			U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.427G>A	17.37:g.3336709C>T	ENSP00000248384:p.Ala143Thr	Somatic		Capture	Illumina HiSeq	Phase_I	3283459	NM_003554	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.779067	0.00634	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.02015	4.5	5.47	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.730936	0.13035	N	0.419014	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49184	-0.8966	10	0.16420	T	0.52	.	9.0894	0.36601	0.0:0.2239:0.0:0.7761	.	143	P47887	OR1E2_HUMAN	T	143;133	ENSP00000248384:A143T	ENSP00000248384:A143T	A	-	1	0	OR1E2	3283459	0.000000	0.05858	0.942000	0.38095	0.093000	0.18481	-3.662000	0.00400	0.503000	0.28060	-0.300000	0.09419	GCC		0.572	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1		
RHBDL3	162494	broad.mit.edu	37	17	30647999	30647999	+	Silent	SNP	C	C	T	rs141245978	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:30647999C>T	ENST00000269051.4	+	9	980	c.966C>T	c.(964-966)gcC>gcT	p.A322A	RHBDL3_ENST00000538145.1_Silent_p.A314A|RHBDL3_ENST00000536287.1_Silent_p.A224A	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	322						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.A322A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TTGGGCGGGCCGTGTGGCTCC	0.667													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17769	0.0		0.0	False		,,,				2504	0.0				p.A322A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966T	17						.	C		24,4382	30.8+/-60.4	0,24,2179	62.0	56.0	58.0		966	-11.4	0.1	17	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	RHBDL3	NM_138328.2		0,24,6479	TT,TC,CC		0.0,0.5447,0.1845		322/405	30647999	24,12982	2203	4300	6503	27672112	SO:0001819	synonymous_variant	162494	exon9			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.966C>T	17.37:g.30647999C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27672112	NM_138328	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	8.133	0.783422	0.16189	0.005447	0.0	ENSG00000141314	ENST00000431505	T	0.71222	-0.55	5.71	-11.4	0.00090	.	.	.	.	.	T	0.42449	0.1203	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28808	-1.0032	8	0.62326	D	0.03	.	5.7768	0.18283	0.1351:0.2995:0.0674:0.498	.	289	E9PD28	.	C	289	ENSP00000394849:R289C	ENSP00000394849:R289C	R	+	1	0	RHBDL3	27672112	0.000000	0.05858	0.071000	0.20095	0.774000	0.43823	-6.102000	0.00081	-2.846000	0.00333	-2.390000	0.00227	CGT		0.667	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
MED1	5469	broad.mit.edu	37	17	37571355	37571355	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:37571355C>T	ENST00000394287.3	-	16	1628	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	MED1_ENST00000300651.6_Missense_Mutation_p.V475M			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.V475M(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTACAGCTCACATGTGTTGAG	0.413										HNSCC(31;0.082)																											p.V475M	Pancreas(21;279 768 2492 4877 24026)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1423A	17						.						202.0	206.0	204.0					17																	37571355		2203	4300	6503	34824881	SO:0001583	missense	5469	exon16			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1423G>A	17.37:g.37571355C>T	ENSP00000377828:p.Val475Met	Somatic		Capture	Illumina HiSeq	Phase_I	34824881	NM_004774	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37		.	.	.	.	.	.	.	.	.	.	C	28.7	4.944545	0.92593	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.40756	1.02	5.4	5.4	0.78164	.	.	.	.	.	T	0.51822	0.1697	L	0.36672	1.1	0.80722	D	1	D;P	0.59767	0.986;0.879	P;P	0.56916	0.809;0.565	T	0.49943	-0.8885	9	0.56958	D	0.05	-8.6147	19.4324	0.94776	0.0:1.0:0.0:0.0	.	475;475	Q15648;Q15648-3	MED1_HUMAN;.	M	475	ENSP00000300651:V475M	ENSP00000300651:V475M	V	-	1	0	MED1	34824881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.822000	0.97130	0.632000	0.83419	GTG		0.413	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774	
PSMD3	5709	broad.mit.edu	37	17	38142927	38142927	+	Missense_Mutation	SNP	G	G	A	rs138262103		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:38142927G>A	ENST00000264639.4	+	3	685	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	PSMD3_ENST00000541736.1_Missense_Mutation_p.V33M	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	171					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.V171M(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCAACTCCTCGTGGTCATCTT	0.552																																					p.V171M	Ovarian(186;531 2051 6385 19668 48409)											.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G511A	17						.						156.0	144.0	148.0					17																	38142927		2203	4300	6503	35396453	SO:0001583	missense	5709	exon3			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.511G>A	17.37:g.38142927G>A	ENSP00000264639:p.Val171Met	Somatic		Capture	Illumina HiSeq	Phase_I	35396453	NM_002809	B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	A	9.061	0.994377	0.19043	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	D;D	0.86956	-2.19;-2.19	5.35	-8.5	0.00927	.	0.860704	0.10699	N	0.644337	T	0.75117	0.3806	L	0.38838	1.175	0.09310	N	1	B	0.30727	0.292	B	0.26416	0.069	T	0.60520	-0.7247	10	0.44086	T	0.13	0.0856	9.2497	0.37547	0.1349:0.2536:0.5316:0.0799	.	171	O43242	PSMD3_HUMAN	M	171;158;33	ENSP00000264639:V171M;ENSP00000442508:V33M	ENSP00000264639:V171M	V	+	1	0	PSMD3	35396453	0.000000	0.05858	0.076000	0.20297	0.141000	0.21300	-1.320000	0.02700	-2.619000	0.00441	-1.390000	0.01156	GTG		0.552	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809	
THRA	7067	broad.mit.edu	37	17	38244642	38244642	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:38244642G>A	ENST00000264637.4	+	8	1451	c.871G>A	c.(871-873)Ggc>Agc	p.G291S	THRA_ENST00000584985.1_Missense_Mutation_p.G291S|THRA_ENST00000546243.1_Missense_Mutation_p.G291S|THRA_ENST00000450525.2_Missense_Mutation_p.G291S|THRA_ENST00000394121.4_Missense_Mutation_p.G291S	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	291	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G291S(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CAAGAATGGCGGCCTGGGCGT	0.612																																					p.G291S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G871A	17						.						103.0	96.0	98.0					17																	38244642		2203	4300	6503	35498168	SO:0001583	missense	7067	exon8			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.871G>A	17.37:g.38244642G>A	ENSP00000264637:p.Gly291Ser	Somatic		Capture	Illumina HiSeq	Phase_I	35498168	NM_199334	A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	35	5.551358	0.96501	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	M	0.64567	1.98	0.80722	D	1	D;D;D	0.89917	0.995;0.998;1.0	D;D;D	0.91635	0.919;0.972;0.999	D	0.98588	1.0653	10	0.87932	D	0	.	17.0857	0.86611	0.0:0.0:1.0:0.0	.	291;291;291	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	S	291	ENSP00000377679:G291S;ENSP00000264637:G291S;ENSP00000395641:G291S;ENSP00000443972:G291S	ENSP00000264637:G291S	G	+	1	0	THRA	35498168	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.758000	0.98927	2.304000	0.77564	0.486000	0.48141	GGC		0.612	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2		
TNS4	84951	broad.mit.edu	37	17	38652407	38652407	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:38652407G>T	ENST00000254051.6	-	2	429	c.271C>A	c.(271-273)Cca>Aca	p.P91T		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	91					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.P91T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGTCCTCTGGGGTCCCCAAG	0.632																																					p.P91T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C271A	17						.						76.0	76.0	76.0					17																	38652407		2203	4300	6503	35905933	SO:0001583	missense	84951	exon2			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.271C>A	17.37:g.38652407G>T	ENSP00000254051:p.Pro91Thr	Somatic		Capture	Illumina HiSeq	Phase_I	35905933	NM_032865	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.582483	0.00129	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.17370	2.28	5.24	0.241	0.15494	.	3.082550	0.01396	N	0.013425	T	0.07369	0.0186	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22977	-1.0201	10	0.23891	T	0.37	1.2957	2.445	0.04504	0.1903:0.1384:0.5129:0.1584	.	91	Q8IZW8	TENS4_HUMAN	T	91	ENSP00000254051:P91T	ENSP00000254051:P91T	P	-	1	0	TNS4	35905933	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.814000	0.27239	0.190000	0.20209	0.643000	0.83706	CCA		0.632	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865	
JUP	3728	broad.mit.edu	37	17	39919376	39919376	+	Silent	SNP	C	C	T	rs555082435		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:39919376C>T	ENST00000393931.3	-	8	1474	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	JUP_ENST00000310706.5_Silent_p.T452T|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.T452T	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	452					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.T452T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGGCAGGCTCCGTGATGTCGT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20614	0.0		0.0	False		,,,				2504	0.001				p.T452T	Colon(16;42 520 6044 17852 28530)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1356A	17						.						132.0	103.0	113.0					17																	39919376		2203	4300	6503	37172902	SO:0001819	synonymous_variant	3728	exon8			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1356G>A	17.37:g.39919376C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37172902	NM_021991	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	CCDS11407.1																																																																																				0.602	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1		
MPP3	4356	broad.mit.edu	37	17	41879221	41879221	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:41879221C>T	ENST00000398389.4	-	20	1771	c.1606G>A	c.(1606-1608)Gct>Act	p.A536T	MPP3_ENST00000398393.1_Missense_Mutation_p.A561T	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	536	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.A536T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCGGCAGAAGCGGCCATCTCT	0.532																																					p.A536T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1606A	17						.						72.0	69.0	70.0					17																	41879221		1940	4147	6087	39234747	SO:0001583	missense	4356	exon20				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1606G>A	17.37:g.41879221C>T	ENSP00000381425:p.Ala536Thr	Somatic		Capture	Illumina HiSeq	Phase_I	39234747	NM_001932	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	9.406	1.079383	0.20227	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.42131	0.98;0.98	5.42	2.17	0.27698	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.730351	0.14284	N	0.329359	T	0.27134	0.0665	L	0.37800	1.135	0.09310	N	1	B;B	0.22909	0.045;0.077	B;B	0.20184	0.017;0.028	T	0.13629	-1.0502	10	0.29301	T	0.29	.	3.6803	0.08308	0.184:0.5422:0.0:0.2737	.	536;561	Q13368;D3DX46	MPP3_HUMAN;.	T	561;536	ENSP00000381430:A561T;ENSP00000381425:A536T	ENSP00000381425:A536T	A	-	1	0	MPP3	39234747	0.862000	0.29867	0.990000	0.47175	0.560000	0.35617	0.955000	0.29188	0.858000	0.35431	0.563000	0.77884	GCT		0.532	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932	
MPP2	4355	broad.mit.edu	37	17	41957293	41957293	+	Missense_Mutation	SNP	G	G	A	rs374234227		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:41957293G>A	ENST00000461854.1	-	12	1367	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	MPP2_ENST00000520305.1_Missense_Mutation_p.R265C|MPP2_ENST00000377184.3_Missense_Mutation_p.R421C|MPP2_ENST00000523501.1_Missense_Mutation_p.R393C|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.R449C|MPP2_ENST00000536246.1_Missense_Mutation_p.R393C|MPP2_ENST00000269095.4_Missense_Mutation_p.R404C			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	428	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.R404C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		ATCTCCCCACGGGACACAAAG	0.622											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R404C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1210T	17						.	G	CYS/ARG	0,4406		0,0,2203	174.0	117.0	136.0		1210	4.8	1.0	17		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPP2	NM_005374.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	404/553	41957293	1,13005	2203	4300	6503	39312819	SO:0001583	missense	4355	exon11				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1282C>T	17.37:g.41957293G>A	ENSP00000428286:p.Arg428Cys	Somatic	905	Capture	Illumina HiSeq	Phase_I	39312819	NM_005374	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37		.	.	.	.	.	.	.	.	.	.	g	14.95	2.688402	0.48097	0.0	1.16E-4	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.83	4.83	0.62350	.	.	.	.	.	T	0.57946	0.2088	H	0.95780	3.72	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67231	0.95;0.916	T	0.72590	-0.4247	9	0.87932	D	0	.	15.844	0.78874	0.0:0.0:1.0:0.0	.	449;421	E7EV80;Q14168-3	.;.	C	421;404;428;265;393;393;449	ENSP00000366389:R421C;ENSP00000269095:R404C;ENSP00000428286:R428C;ENSP00000428136:R265C;ENSP00000430540:R393C;ENSP00000438012:R393C;ENSP00000428182:R449C	ENSP00000269095:R404C	R	-	1	0	MPP2	39312819	1.000000	0.71417	0.960000	0.40013	0.042000	0.13812	3.155000	0.50700	2.390000	0.81377	0.579000	0.79373	CGT		0.622	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374	
ADAM11	4185	broad.mit.edu	37	17	42855596	42855596	+	Silent	SNP	G	G	A	rs575543165	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:42855596G>A	ENST00000200557.6	+	25	2431	c.2262G>A	c.(2260-2262)acG>acA	p.T754T	ADAM11_ENST00000535346.1_Silent_p.T554T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	754					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T754T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TGGGCGGCACGGGCTGGGGAT	0.627													G|||	3	0.000599042	0.0	0.0	5008	,	,		17181	0.0		0.0	False		,,,				2504	0.0031				p.T754T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2262A	17						.						54.0	42.0	46.0					17																	42855596		2203	4300	6503	40211122	SO:0001819	synonymous_variant	4185	exon25			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2262G>A	17.37:g.42855596G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40211122	NM_002390	Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	CCDS11486.1																																																																																				0.627	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390	
NFE2L1	4779	broad.mit.edu	37	17	46136913	46136913	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:46136913C>T	ENST00000362042.3	+	6	2845	c.2229C>T	c.(2227-2229)gcC>gcT	p.A743A	NFE2L1_ENST00000583378.1_Silent_p.A544A|NFE2L1_ENST00000582155.1_Silent_p.A555A|NFE2L1_ENST00000536222.1_Silent_p.A587A|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000357480.5_Silent_p.A713A|NFE2L1_ENST00000585291.1_Silent_p.A713A|NFE2L1_ENST00000361665.3_Silent_p.A732A	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	743					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.A743A(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCAGTACGCCGGGGACGGCA	0.642																																					p.A743A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2229T	17						.						58.0	61.0	60.0					17																	46136913		2203	4300	6503	43491912	SO:0001819	synonymous_variant	4779	exon6			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2229C>T	17.37:g.46136913C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43491912	NM_003204	D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	CCDS11524.1																																																																																				0.642	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204	
DLX3	1747	broad.mit.edu	37	17	48069044	48069044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:48069044G>A	ENST00000434704.2	-	3	926	c.701C>T	c.(700-702)cCg>cTg	p.P234L	DLX3_ENST00000512495.2_Missense_Mutation_p.P114L	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	234					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P234L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GTATGGGAGCGGCGGGGGCAG	0.642																																					p.P234L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C701T	17						.						40.0	45.0	43.0					17																	48069044		2203	4300	6503	45424043	SO:0001583	missense	1747	exon3				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.701C>T	17.37:g.48069044G>A	ENSP00000389870:p.Pro234Leu	Somatic		Capture	Illumina HiSeq	Phase_I	45424043	NM_005220	B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733420	0.48939	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.92199	-2.97;-2.99	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	L	0.43923	1.385	0.58432	D	0.999999	P	0.49253	0.921	B	0.34418	0.182	T	0.83316	-0.0020	10	0.22706	T	0.39	-21.8047	11.067	0.47980	0.0:0.0:0.8148:0.1852	.	234	O60479	DLX3_HUMAN	L	234;114	ENSP00000389870:P234L;ENSP00000449976:P114L	ENSP00000389870:P234L	P	-	2	0	DLX3	45424043	1.000000	0.71417	0.993000	0.49108	0.916000	0.54674	4.080000	0.57620	2.357000	0.79964	0.556000	0.70494	CCG		0.642	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1		
COL1A1	1277	broad.mit.edu	37	17	48264273	48264273	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:48264273C>T	ENST00000225964.5	-	48	3660	c.3542G>A	c.(3541-3543)gGc>gAc	p.G1181D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1181	Triple-helical region.		G -> S (in OI2). {ECO:0000269|PubMed:2037280, ECO:0000269|Ref.48}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1181D(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCCAGGAGGGCCGGGGGGACC	0.647			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.G1181D			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3542A	17						.						28.0	31.0	30.0					17																	48264273		2203	4300	6503	45619272	SO:0001583	missense	1277	exon48			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3542G>A	17.37:g.48264273C>T	ENSP00000225964:p.Gly1181Asp	Somatic		Capture	Illumina HiSeq	Phase_I	45619272	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908895	0.33721	.	.	ENSG00000108821	ENST00000225964	D	0.99619	-6.28	3.88	3.88	0.44766	.	0.000000	0.64402	U	0.000001	D	0.99802	0.9915	H	0.98901	4.365	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.96589	0.9436	10	0.87932	D	0	.	14.7474	0.69499	0.0:1.0:0.0:0.0	.	1181	P02452	CO1A1_HUMAN	D	1181	ENSP00000225964:G1181D	ENSP00000225964:G1181D	G	-	2	0	COL1A1	45619272	1.000000	0.71417	0.962000	0.40283	0.050000	0.14768	7.534000	0.82004	1.984000	0.57885	0.313000	0.20887	GGC		0.647	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
COL1A1	1277	broad.mit.edu	37	17	48266144	48266144	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:48266144C>T	ENST00000225964.5	-	42	3176	c.3058G>A	c.(3058-3060)Gcc>Acc	p.A1020T		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1020	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A1020T(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GAACCTTCGGCACCAGGAGCC	0.607			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.A1020T			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3058A	17						.						78.0	84.0	82.0					17																	48266144		2203	4300	6503	45621143	SO:0001583	missense	1277	exon42			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3058G>A	17.37:g.48266144C>T	ENSP00000225964:p.Ala1020Thr	Somatic		Capture	Illumina HiSeq	Phase_I	45621143	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281394	0.23392	.	.	ENSG00000108821	ENST00000225964	D	0.93366	-3.21	3.96	3.96	0.45880	.	0.287778	0.32343	N	0.006238	D	0.88396	0.6425	L	0.33485	1.01	0.28195	N	0.927572	B	0.21753	0.06	B	0.28139	0.086	T	0.81688	-0.0819	10	0.48119	T	0.1	.	8.925	0.35634	0.0:0.8948:0.0:0.1052	.	1020	P02452	CO1A1_HUMAN	T	1020	ENSP00000225964:A1020T	ENSP00000225964:A1020T	A	-	1	0	COL1A1	45621143	0.000000	0.05858	0.994000	0.49952	0.208000	0.24298	-0.316000	0.08071	2.082000	0.62665	0.298000	0.19748	GCC		0.607	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
NLRP1	22861	broad.mit.edu	37	17	5424202	5424202	+	Splice_Site	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:5424202T>C	ENST00000572272.1	-	14	3913	c.3914A>G	c.(3913-3915)aAg>aGg	p.K1305R	NLRP1_ENST00000262467.5_Splice_Site_p.K1309R|NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000354411.3_Splice_Site_p.K1275R			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1305					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.K1305R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTGCTCACCTTGGGGAGTAT	0.552																																					p.K1305R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3914G	17						.						67.0	59.0	62.0					17																	5424202		2203	4300	6503	5364926	SO:0001630	splice_region_variant	22861	exon14			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3915+1A>G	17.37:g.5424202T>C		Somatic		Capture	Illumina HiSeq	Phase_I	5364926	NM_033004	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.555654	0.45487	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411	T;T;T	0.19394	2.15;2.15;2.15	4.05	0.513	0.17000	.	1.074000	0.07337	N	0.880108	T	0.27205	0.0667	M	0.72118	2.19	0.30469	N	0.773517	P;P;P	0.52061	0.95;0.812;0.812	P;B;B	0.46885	0.53;0.309;0.398	T	0.34254	-0.9836	10	0.87932	D	0	.	3.5233	0.07751	0.0:0.2137:0.1983:0.5879	.	1275;1305;1309	Q9C000-4;Q9C000;E9PE50	.;NALP1_HUMAN;.	R	1309;1309;1305;1275	ENSP00000442029:K1309R;ENSP00000262467:K1309R;ENSP00000346390:K1275R	ENSP00000262467:K1309R	K	-	2	0	NLRP1	5364926	0.805000	0.28982	0.182000	0.23118	0.130000	0.20726	1.128000	0.31369	0.042000	0.15717	0.524000	0.50904	AAG		0.552	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	Missense_Mutation
ANKRD40	91369	broad.mit.edu	37	17	48777974	48777974	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:48777974G>A	ENST00000285243.6	-	2	507	c.238C>T	c.(238-240)Cca>Tca	p.P80S		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	80								p.P80S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AACTGGACTGGCATTTCTCCT	0.418																																					p.P80S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C238T	17						.						208.0	183.0	192.0					17																	48777974		2203	4300	6503	46132973	SO:0001583	missense	91369	exon2			BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.238C>T	17.37:g.48777974G>A	ENSP00000285243:p.Pro80Ser	Somatic		Capture	Illumina HiSeq	Phase_I	46132973	NM_052855	Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382438	0.82792	.	.	ENSG00000154945	ENST00000285243	T	0.73363	-0.74	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.062472	0.64402	D	0.000004	T	0.77082	0.4078	L	0.59436	1.845	0.53005	D	0.999961	D	0.56521	0.976	P	0.47206	0.541	T	0.80167	-0.1495	10	0.66056	D	0.02	-11.3284	18.674	0.91523	0.0:0.0:1.0:0.0	.	80	Q6AI12	ANR40_HUMAN	S	80	ENSP00000285243:P80S	ENSP00000285243:P80S	P	-	1	0	ANKRD40	46132973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.674000	0.61612	2.746000	0.94184	0.655000	0.94253	CCA		0.418	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855	
TEX14	56155	broad.mit.edu	37	17	56643118	56643118	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:56643118G>A	ENST00000240361.8	-	28	4177	c.4092C>T	c.(4090-4092)ggC>ggT	p.G1364G	TEX14_ENST00000584699.1_5'Flank|TEX14_ENST00000389934.3_Silent_p.G1358G|TEX14_ENST00000349033.5_Silent_p.G1318G			Q8IWB6	TEX14_HUMAN	testis expressed 14	1364					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.G1318G(1)|p.G1364G(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTTGCAGTGCCTCCTCCAT	0.453																																					p.G1358G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4074T	17						.						151.0	95.0	114.0					17																	56643118		2203	4300	6503	53998117	SO:0001819	synonymous_variant	56155	exon28			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4092C>T	17.37:g.56643118G>A		Somatic		Capture	Illumina HiSeq	Phase_I	53998117	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.453	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56676295	56676295	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:56676295C>A	ENST00000240361.8	-	14	2514	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V	TEX14_ENST00000389934.3_Missense_Mutation_p.G804V|TEX14_ENST00000349033.5_Missense_Mutation_p.G804V			Q8IWB6	TEX14_HUMAN	testis expressed 14	810					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.G804V(1)|p.G810V(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTGACCCCCTGAAAGCTG	0.478																																					p.G804V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2411T	17						.						147.0	159.0	155.0					17																	56676295		2203	4300	6503	54031294	SO:0001583	missense	56155	exon14			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2429G>T	17.37:g.56676295C>A	ENSP00000240361:p.Gly810Val	Somatic		Capture	Illumina HiSeq	Phase_I	54031294	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423694	0.43020	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.78707	-1.2;-1.2;-1.16	4.83	-1.25	0.09405	.	0.674999	0.13993	N	0.348683	T	0.76521	0.3999	M	0.62723	1.935	0.09310	N	0.999997	D;D;D	0.67145	0.993;0.989;0.996	P;P;P	0.55923	0.617;0.787;0.787	T	0.64664	-0.6354	10	0.44086	T	0.13	-1.3221	2.3162	0.04199	0.268:0.4622:0.1306:0.1391	.	810;804;804	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	V	810;804;804	ENSP00000240361:G810V;ENSP00000374584:G804V;ENSP00000268910:G804V	ENSP00000240361:G810V	G	-	2	0	TEX14	54031294	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.226000	0.09139	-0.020000	0.14032	-0.175000	0.13238	GGG		0.478	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
RNFT1	51136	broad.mit.edu	37	17	58040581	58040581	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:58040581T>C	ENST00000305783.8	-	2	176	c.121A>G	c.(121-123)Aat>Gat	p.N41D	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Missense_Mutation_p.N4D|RP11-178C3.2_ENST00000586209.1_lincRNA	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	41						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.N4D(1)		large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TGGCTACGATTGGCTTGCATG	0.463																																					p.N41D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A121G	17						.						97.0	87.0	90.0					17																	58040581		2203	4300	6503	55395363	SO:0001583	missense	51136	exon2			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.121A>G	17.37:g.58040581T>C	ENSP00000304670:p.Asn41Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55395363	NM_016125	Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	ENST00000305783.8	37	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338814	0.41398	.	.	ENSG00000189050	ENST00000305783;ENST00000442346	T	0.45276	0.9	5.24	4.14	0.48551	.	0.599767	0.18745	N	0.132358	T	0.34135	0.0887	L	0.44542	1.39	0.21416	N	0.999693	P;P;B	0.52316	0.873;0.952;0.001	B;P;B	0.45881	0.291;0.496;0.004	T	0.10245	-1.0638	10	0.10377	T	0.69	-2.221	8.0848	0.30765	0.0:0.0724:0.1359:0.7917	.	41;41;41	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	D	41;4	ENSP00000304670:N41D	ENSP00000304670:N41D	N	-	1	0	RNFT1	55395363	0.984000	0.35163	1.000000	0.80357	0.250000	0.25880	1.841000	0.39240	0.787000	0.33731	0.482000	0.46254	AAT		0.463	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125	
RGS9	8787	broad.mit.edu	37	17	63200369	63200369	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:63200369C>T	ENST00000262406.9	+	15	1220	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	RGS9_ENST00000449996.3_Missense_Mutation_p.R382C|RGS9_ENST00000443584.3_Missense_Mutation_p.R382C	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	385	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R385G(1)|p.R385C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCACCCCCACCGCTATGTGCT	0.587																																					p.R385C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1153T	17						.						64.0	70.0	68.0					17																	63200369		1950	4159	6109	60630831	SO:0001583	missense	8787	exon15			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1153C>T	17.37:g.63200369C>T	ENSP00000262406:p.Arg385Cys	Somatic		Capture	Illumina HiSeq	Phase_I	60630831	NM_003835	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446368	0.43429	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.02177	4.41;4.41	5.78	5.78	0.91487	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00270	-1.1860	10	0.87932	D	0	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	385;385;382	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	C	385;382	ENSP00000262406:R385C;ENSP00000396329:R382C	ENSP00000262406:R385C	R	+	1	0	RGS9	60630831	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.798000	0.62510	2.749000	0.94314	0.655000	0.94253	CGC		0.587	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
CACNG4	27092	broad.mit.edu	37	17	65014361	65014361	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:65014361G>A	ENST00000262138.3	+	2	279	c.277G>A	c.(277-279)Gac>Aac	p.D93N	RP11-349A8.3_ENST00000584277.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	93					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.D93N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CAATGACTACGACCACGACAG	0.562																																					p.D93N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G277A	17						.						98.0	90.0	92.0					17																	65014361		2203	4300	6503	62444823	SO:0001583	missense	27092	exon2			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.277G>A	17.37:g.65014361G>A	ENSP00000262138:p.Asp93Asn	Somatic		Capture	Illumina HiSeq	Phase_I	62444823	NM_014405	B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184876	0.94885	.	.	ENSG00000075461	ENST00000262138	D	0.88431	-2.38	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93491	0.7923	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91599	0.5293	10	0.21014	T	0.42	-16.4243	18.0476	0.89337	0.0:0.0:1.0:0.0	.	93	Q9UBN1	CCG4_HUMAN	N	93	ENSP00000262138:D93N	ENSP00000262138:D93N	D	+	1	0	CACNG4	62444823	1.000000	0.71417	0.928000	0.36995	0.900000	0.52787	9.282000	0.95840	2.273000	0.75805	0.561000	0.74099	GAC		0.562	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405	
SDK2	54549	broad.mit.edu	37	17	71398226	71398226	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:71398226G>A	ENST00000392650.3	-	19	2539	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S	SDK2_ENST00000388726.3_Missense_Mutation_p.P847S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	847	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P847S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGAAAGTTAGGCCGGGCGGTC	0.602																																					p.P847S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2539T	17						.						102.0	77.0	86.0					17																	71398226		2203	4300	6503	68909821	SO:0001583	missense	54549	exon19			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2539C>T	17.37:g.71398226G>A	ENSP00000376421:p.Pro847Ser	Somatic		Capture	Illumina HiSeq	Phase_I	68909821	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421099	0.96111	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56776	0.44;0.44;1.51	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	L	0.57536	1.79	0.80722	D	1	P;P;P	0.52170	0.696;0.951;0.939	P;D;P	0.64776	0.543;0.929;0.883	T	0.61753	-0.6998	10	0.23891	T	0.37	.	18.9086	0.92474	0.0:0.0:1.0:0.0	.	847;847;847	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	S	471;847;847;23;847	ENSP00000376421:P847S;ENSP00000373378:P847S;ENSP00000407098:P23S	ENSP00000324967:P847S	P	-	1	0	SDK2	68909821	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.719000	0.98760	2.540000	0.85666	0.597000	0.82753	CCT		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
NAT9	26151	broad.mit.edu	37	17	72769139	72769139	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:72769139G>C	ENST00000357814.3	-	4	303	c.230C>G	c.(229-231)gCc>gGc	p.A77G	NAT9_ENST00000583757.1_Missense_Mutation_p.A76G|NAT9_ENST00000580301.1_Missense_Mutation_p.A76G|NAT9_ENST00000578822.1_Missense_Mutation_p.A82G|NAT9_ENST00000582524.1_Missense_Mutation_p.A77G|NAT9_ENST00000582870.1_Missense_Mutation_p.A81G|NAT9_ENST00000583476.1_Missense_Mutation_p.A77G|NAT9_ENST00000581136.1_Missense_Mutation_p.A77G|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000580632.1_Missense_Mutation_p.A76G	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	77	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)	p.A77G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GCCTGGCTGGGCCTGCCACTT	0.557																																					p.A77G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230G	17						.																																			70280734	SO:0001583	missense	26151	exon4			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.230C>G	17.37:g.72769139G>C	ENSP00000350467:p.Ala77Gly	Somatic		Capture	Illumina HiSeq	Phase_I	70280734	NM_015654	B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313661	0.40996	.	.	ENSG00000109065	ENST00000357814	T	0.45668	0.89	5.41	4.38	0.52667	Acyl-CoA N-acyltransferase (2);	0.166361	0.52532	D	0.000068	T	0.28366	0.0701	N	0.20986	0.625	0.39311	D	0.965072	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.07462	-1.0771	10	0.20046	T	0.44	-14.1202	13.9623	0.64188	0.0:0.1516:0.8484:0.0	.	76;77	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	G	77	ENSP00000350467:A77G	ENSP00000350467:A77G	A	-	2	0	NAT9	70280734	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	1.694000	0.37752	2.689000	0.91719	0.655000	0.94253	GCC		0.557	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654	
DLG4	1742	broad.mit.edu	37	17	7111532	7111532	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:7111532C>T	ENST00000399506.2	-	2	248	c.57G>A	c.(55-57)acG>acA	p.T19T	DLG4_ENST00000399510.2_Silent_p.T62T|DLG4_ENST00000485100.1_Silent_p.T19T|DLG4_ENST00000302955.6_Silent_p.T19T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	19					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.T62T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CCAGAGGGGGCGTGTCTTCAT	0.692																																					p.T19T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G57A	17						.						91.0	104.0	99.0					17																	7111532		1973	4127	6100	7052256	SO:0001819	synonymous_variant	1742	exon2			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.57G>A	17.37:g.7111532C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7052256	NM_001128827	B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37																																																																																					0.692	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	
OTOP3	347741	broad.mit.edu	37	17	72937723	72937723	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:72937723C>T	ENST00000328801.4	+	2	309	c.309C>T	c.(307-309)ggC>ggT	p.G103G		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	103						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.G103G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCCTGGGTGGCGCCTTCATCT	0.612																																					p.G103G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309T	17						.						60.0	53.0	55.0					17																	72937723		2203	4300	6503	70449318	SO:0001819	synonymous_variant	347741	exon2			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.309C>T	17.37:g.72937723C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70449318	NM_178233		Silent	SNP	ENST00000328801.4	37	CCDS11709.1																																																																																				0.612	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233	
SLC2A4	6517	broad.mit.edu	37	17	7189779	7189779	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:7189779C>T	ENST00000317370.8	+	11	1629	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V	RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	454					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.A454V(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTTCTATTTGCGGTCCTCCTG	0.562																																					p.A454V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1361T	17						.						310.0	300.0	304.0					17																	7189779		2203	4300	6503	7130503	SO:0001583	missense	6517	exon11			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1361C>T	17.37:g.7189779C>T	ENSP00000320935:p.Ala454Val	Somatic		Capture	Illumina HiSeq	Phase_I	7130503	NM_001042	Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371292	0.61624	.	.	ENSG00000181856	ENST00000317370	T	0.62498	0.02	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	L	0.55017	1.72	0.80722	D	1	B	0.27316	0.175	B	0.24394	0.053	T	0.54364	-0.8305	10	0.46703	T	0.11	.	9.7212	0.40304	0.0:0.9084:0.0:0.0916	.	454	P14672	GTR4_HUMAN	V	454	ENSP00000320935:A454V	ENSP00000320935:A454V	A	+	2	0	SLC2A4	7130503	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.384000	0.59607	2.826000	0.97356	0.655000	0.94253	GCG		0.562	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		
NUP85	79902	broad.mit.edu	37	17	73221270	73221270	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:73221270C>T	ENST00000245544.4	+	8	741	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.P112S|NUP85_ENST00000579298.1_Intron|NUP85_ENST00000540768.1_5'Flank|NUP85_ENST00000447371.2_Missense_Mutation_p.P56S|NUP85_ENST00000541827.1_Missense_Mutation_p.P178S	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	224					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.P224S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CGATGCCAGCCCCGCCTCTGC	0.602																																					p.P224S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C670T	17						.						89.0	92.0	91.0					17																	73221270		2203	4300	6503	70732865	SO:0001583	missense	79902	exon8			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.670C>T	17.37:g.73221270C>T	ENSP00000245544:p.Pro224Ser	Somatic		Capture	Illumina HiSeq	Phase_I	70732865	NM_024844	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557227	0.27827	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	5.25	5.25	0.73442	.	0.300954	0.37715	N	0.001978	T	0.40423	0.1116	L	0.29908	0.895	0.46701	D	0.999166	P	0.36027	0.533	B	0.37451	0.25	T	0.15896	-1.0421	9	0.13108	T	0.6	-23.7745	13.9559	0.64147	0.1515:0.8485:0.0:0.0	.	224	Q9BW27	NUP85_HUMAN	S	224;178;178;56	.	ENSP00000245544:P224S	P	+	1	0	NUP85	70732865	1.000000	0.71417	0.563000	0.28383	0.576000	0.36127	4.250000	0.58772	2.729000	0.93468	0.650000	0.86243	CCC		0.602	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844	
KCTD11	147040	broad.mit.edu	37	17	7256463	7256463	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:7256463C>T	ENST00000333751.3	+	1	1256	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	68					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)		p.P68S(1)		kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCAGATCCGGCCCCTCCTGGA	0.667																																					p.P68S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202T	17						.						28.0	28.0	28.0					17																	7256463		2203	4300	6503	7197187	SO:0001583	missense	147040	exon1			AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.202C>T	17.37:g.7256463C>T	ENSP00000328352:p.Pro68Ser	Somatic		Capture	Illumina HiSeq	Phase_I	7197187	NM_001002914	B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203671	0.95033	.	.	ENSG00000213859	ENST00000333751	T	0.41400	1.0	4.99	4.99	0.66335	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.46145	U	0.000307	T	0.55513	0.1925	L	0.42487	1.325	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	T	0.48364	-0.9042	10	0.32370	T	0.25	.	15.8023	0.78463	0.0:1.0:0.0:0.0	.	68	Q693B1	KCD11_HUMAN	S	68	ENSP00000328352:P68S	ENSP00000328352:P68S	P	+	1	0	KCTD11	7197187	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	3.886000	0.56190	2.586000	0.87340	0.563000	0.77884	CCC		0.667	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914	
EVPL	2125	broad.mit.edu	37	17	74018563	74018563	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:74018563G>A	ENST00000301607.3	-	5	790	c.537C>T	c.(535-537)atC>atT	p.I179I	EVPL_ENST00000586740.1_Silent_p.I179I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	179	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.I179I(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTGCTCGGCGATCTGTTGCT	0.672																																					p.I179I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C537T	17						.						58.0	53.0	55.0					17																	74018563		2203	4300	6503	71530158	SO:0001819	synonymous_variant	2125	exon5			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.537C>T	17.37:g.74018563G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71530158	NM_001988	A0AUV5	Silent	SNP	ENST00000301607.3	37	CCDS11737.1																																																																																				0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
RHBDF2	79651	broad.mit.edu	37	17	74467930	74467930	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:74467930C>T	ENST00000313080.4	-	19	2629	c.2356G>A	c.(2356-2358)Gcc>Acc	p.A786T	RHBDF2_ENST00000389760.4_Missense_Mutation_p.A757T|RHBDF2_ENST00000591885.1_Missense_Mutation_p.A757T	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	786					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.A786T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGCAGGAAGGCGAAGGCCAGC	0.627																																					p.A786T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2356A	17						.						136.0	89.0	105.0					17																	74467930		2199	4298	6497	71979525	SO:0001583	missense	79651	exon19			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2356G>A	17.37:g.74467930C>T	ENSP00000322775:p.Ala786Thr	Somatic		Capture	Illumina HiSeq	Phase_I	71979525	NM_024599	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009580	0.75046	.	.	ENSG00000129667	ENST00000313080;ENST00000389760	T;T	0.13778	2.56;2.56	5.05	5.05	0.67936	Peptidase S54, rhomboid domain (1);	0.063272	0.64402	D	0.000007	T	0.15825	0.0381	L	0.49699	1.58	0.58432	D	0.999991	P;P	0.40197	0.706;0.657	B;B	0.39971	0.315;0.175	T	0.01591	-1.1317	10	0.40728	T	0.16	-35.5034	13.3877	0.60805	0.1574:0.8426:0.0:0.0	.	786;757	Q6PJF5;Q6PJF5-2	RHDF2_HUMAN;.	T	786;757	ENSP00000322775:A786T;ENSP00000374410:A757T	ENSP00000322775:A786T	A	-	1	0	RHBDF2	71979525	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.864000	0.69575	2.376000	0.81061	0.467000	0.42956	GCC		0.627	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599	
CYTH1	9267	broad.mit.edu	37	17	76676353	76676353	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:76676353C>T	ENST00000446868.3	-	13	1107	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.R287Q|CYTH1_ENST00000591455.1_Missense_Mutation_p.R345Q|CYTH1_ENST00000589297.1_Missense_Mutation_p.R287Q|CYTH1_ENST00000361101.4_Missense_Mutation_p.R346Q			Q15438	CYH1_HUMAN	cytohesin 1	346	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.R346Q(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CTCCACCACCCGCCCGTCAGC	0.507																																					p.R345Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034A	17						.						93.0	83.0	86.0					17																	76676353		2203	4300	6503	74187948	SO:0001583	missense	9267	exon12			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.1037G>A	17.37:g.76676353C>T	ENSP00000389095:p.Arg346Gln	Somatic		Capture	Illumina HiSeq	Phase_I	74187948	NM_017456	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.	.	.	.	.	.	.	.	.	.	C	35	5.444379	0.96187	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.12879	2.64;2.64	5.93	5.93	0.95920	.	0.057427	0.64402	D	0.000002	T	0.16171	0.0389	L	0.41573	1.285	0.80722	D	1	D	0.55800	0.973	B	0.41646	0.362	T	0.00475	-1.1717	10	0.59425	D	0.04	.	19.933	0.97127	0.0:1.0:0.0:0.0	.	345	Q15438-2	.	Q	346;346;287;287;345;183	ENSP00000389095:R346Q;ENSP00000354398:R346Q	ENSP00000262763:R345Q	R	-	2	0	CYTH1	74187948	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	5.935000	0.70145	2.805000	0.96524	0.650000	0.86243	CGG		0.507	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	
USP36	57602	broad.mit.edu	37	17	76814831	76814831	+	Missense_Mutation	SNP	C	C	T	rs199873425		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:76814831C>T	ENST00000542802.3	-	10	1384	c.941G>A	c.(940-942)cGc>cAc	p.R314H	USP36_ENST00000312010.6_Missense_Mutation_p.R314H|USP36_ENST00000449938.2_Missense_Mutation_p.R14H|USP36_ENST00000588467.1_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	314	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R314H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GATGGTGAAGCGCTTGCTGGC	0.473																																					p.R314H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G941A	17						.						195.0	174.0	181.0					17																	76814831		2203	4300	6503	74326426	SO:0001583	missense	57602	exon10			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.941G>A	17.37:g.76814831C>T	ENSP00000441214:p.Arg314His	Somatic		Capture	Illumina HiSeq	Phase_I	74326426	NM_025090	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583266	0.96578	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802;ENST00000432878	T;T;T	0.32515	1.45;1.45;1.45	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.62305	-0.6882	10	0.72032	D	0.01	-30.9437	18.2015	0.89839	0.0:1.0:0.0:0.0	.	314	Q9P275-2	.	H	314;14;314;314	ENSP00000310590:R314H;ENSP00000401119:R14H;ENSP00000441214:R314H	ENSP00000310590:R314H	R	-	2	0	USP36	74326426	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.175000	0.77632	2.396000	0.81511	0.563000	0.77884	CGC		0.473	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	
RNF213	57674	broad.mit.edu	37	17	78321546	78321546	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:78321546C>T	ENST00000582970.1	+	29	9554	c.9411C>T	c.(9409-9411)cgC>cgT	p.R3137R	RNF213_ENST00000336301.6_Silent_p.R1210R|RNF213_ENST00000508628.2_Silent_p.R3186R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3137					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1210R(1)|p.R3186R(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGACCCACCGCGTCAAATGTC	0.562																																					p.R3186R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C9558T	17						.						59.0	58.0	58.0					17																	78321546		2203	4300	6503	75936141	SO:0001819	synonymous_variant	57674	exon30			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9411C>T	17.37:g.78321546C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75936141	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
ABR	29	broad.mit.edu	37	17	914013	914013	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:914013G>T	ENST00000302538.5	-	20	2338	c.2192C>A	c.(2191-2193)cCg>cAg	p.P731Q	ABR_ENST00000574437.1_Missense_Mutation_p.P685Q|ABR_ENST00000543210.2_Missense_Mutation_p.P182Q|ABR_ENST00000572441.1_Intron|ABR_ENST00000536794.2_Missense_Mutation_p.P513Q|ABR_ENST00000291107.2_Missense_Mutation_p.P694Q|ABR_ENST00000544583.2_Missense_Mutation_p.P685Q	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	731	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P731Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGTGAGGAGCGGCTCGGGCAG	0.622																																					p.P731Q	Esophageal Squamous(197;2016 2115 4129 29033 46447)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2192A	17						.						86.0	81.0	83.0					17																	914013		2203	4300	6503	860763	SO:0001583	missense	29	exon20			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2192C>A	17.37:g.914013G>T	ENSP00000303909:p.Pro731Gln	Somatic		Capture	Illumina HiSeq	Phase_I	860763	NM_021962	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070491	0.93950	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210;ENST00000382259	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.13	5.13	0.70059	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061108	0.64402	D	0.000003	T	0.55049	0.1896	H	0.94698	3.57	0.51767	D	0.999939	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.996;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.969;0.999;0.925;0.996;0.996	T	0.69548	-0.5116	10	0.87932	D	0	.	17.2209	0.86957	0.0:0.0:1.0:0.0	.	513;182;339;694;641;731	B7Z683;F5H3S2;Q6ZT60;Q12979-2;B7Z2X0;Q12979	.;.;.;.;.;ABR_HUMAN	Q	731;685;694;513;182;340	ENSP00000303909:P731Q;ENSP00000442048:P685Q;ENSP00000291107:P694Q;ENSP00000437429:P513Q;ENSP00000445198:P182Q	ENSP00000291107:P694Q	P	-	2	0	ABR	860763	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.756000	0.98918	2.388000	0.81334	0.558000	0.71614	CCG		0.622	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
MYH10	4628	broad.mit.edu	37	17	8379234	8379234	+	Missense_Mutation	SNP	C	C	T	rs370970711		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:8379234C>T	ENST00000269243.4	-	41	5957	c.5819G>A	c.(5818-5820)cGa>cAa	p.R1940Q	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000360416.3_Missense_Mutation_p.R1971Q|MYH10_ENST00000396239.1_Missense_Mutation_p.R1961Q|MYH10_ENST00000379980.4_Missense_Mutation_p.R1956Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1940					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1940Q(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCGGCCAGATCGGCTGGAAGA	0.567																																					p.R1940Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5819A	17						.	C	GLN/ARG	0,4406		0,0,2203	77.0	76.0	77.0		5819	5.0	1.0	17		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH10	NM_005964.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1940/1977	8379234	1,13005	2203	4300	6503	8319959	SO:0001583	missense	4628	exon41			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5819G>A	17.37:g.8379234C>T	ENSP00000269243:p.Arg1940Gln	Somatic		Capture	Illumina HiSeq	Phase_I	8319959	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766439	0.90020	0.0	1.16E-4	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;T;D	0.86694	-2.12;-2.16;-1.11;-2.13	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	N	0.08118	0	0.80722	D	1	D;D;B	0.53885	0.962;0.963;0.091	P;P;B	0.50082	0.63;0.529;0.014	D	0.86553	0.1836	10	0.87932	D	0	.	18.4074	0.90541	0.0:1.0:0.0:0.0	.	1949;1971;1940	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1940;1971;1961;1956	ENSP00000269243:R1940Q;ENSP00000353590:R1971Q;ENSP00000379539:R1961Q;ENSP00000369315:R1956Q	ENSP00000269243:R1940Q	R	-	2	0	MYH10	8319959	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.177000	0.77650	2.738000	0.93877	0.655000	0.94253	CGA		0.567	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
MYH10	4628	broad.mit.edu	37	17	8452058	8452058	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:8452058C>A	ENST00000269243.4	-	9	1075	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C	MYH10_ENST00000360416.3_Missense_Mutation_p.G323C|MYH10_ENST00000379980.4_Missense_Mutation_p.G329C|MYH10_ENST00000396239.1_Missense_Mutation_p.G313C|RN7SL129P_ENST00000479993.2_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	313	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.G313C(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGAATATAGCCATTGGAGAGA	0.363																																					p.G313C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G937T	17						.						142.0	143.0	142.0					17																	8452058		2203	4300	6503	8392783	SO:0001583	missense	4628	exon9			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.937G>T	17.37:g.8452058C>A	ENSP00000269243:p.Gly313Cys	Somatic		Capture	Illumina HiSeq	Phase_I	8392783	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955701	0.92726	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.96104	-0.84;-0.84;-3.91;-0.84	5.25	5.25	0.73442	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99445	1.0939	10	0.87932	D	0	.	19.0466	0.93022	0.0:1.0:0.0:0.0	.	322;323;313	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	313;323;313;329	ENSP00000269243:G313C;ENSP00000353590:G323C;ENSP00000379539:G313C;ENSP00000369315:G329C	ENSP00000269243:G313C	G	-	1	0	MYH10	8392783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.742000	0.94016	0.650000	0.86243	GGC		0.363	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
PIK3R6	146850	broad.mit.edu	37	17	8741906	8741906	+	Missense_Mutation	SNP	C	C	T	rs574711552		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:8741906C>T	ENST00000311434.9	-	4	403	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	55					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GAGAAGAATGCGGACCAGCAC	0.602																																					p.R55H												.	.	0			c.G164A	17						.						42.0	47.0	45.0					17																	8741906		1943	4126	6069	8682631	SO:0001583	missense	146850	exon4			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.164G>A	17.37:g.8741906C>T	ENSP00000475670:p.Arg55His	Somatic		Capture	Illumina HiSeq	Phase_I	8682631	NM_001010855	Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.602	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	
MYO15A	51168	broad.mit.edu	37	17	18051847	18051847	+	Frame_Shift_Del	DEL	G	G	-	rs531965733		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:18051847delG	ENST00000205890.5	+	32	7067	c.6729delG	c.(6727-6729)acgfs	p.T2243fs	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2243	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E2245fs*8(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGGAGTACGGGGGAAGAGG	0.617																																					p.T2243fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.6729delG	17						.						26.0	31.0	29.0					17																	18051847		1932	4060	5992	17992572	SO:0001589	frameshift_variant	51168	exon31			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6729delG	17.37:g.18051847delG	ENSP00000205890:p.Thr2243fs	Somatic		Capture	Illumina HiSeq	Phase_I	17992572	NM_016239	B4DFC7	Frame_Shift_Del	DEL	ENST00000205890.5	37	CCDS42271.1																																																																																				0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
RHOT1	55288	broad.mit.edu	37	17	30529866	30529866	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:30529866delA	ENST00000333942.6	+	15	1518	c.1279delA	c.(1279-1281)aaafs	p.K427fs	RHOT1_ENST00000394692.2_Frame_Shift_Del_p.K427fs|RHOT1_ENST00000354266.3_Frame_Shift_Del_p.K406fs|RHOT1_ENST00000583994.1_Frame_Shift_Del_p.K300fs|RHOT1_ENST00000581094.1_Frame_Shift_Del_p.K427fs|RHOT1_ENST00000545287.2_Frame_Shift_Del_p.K427fs|RHOT1_ENST00000358365.3_Frame_Shift_Del_p.K427fs	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	427	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N428fs*16(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AATTGGAGTGAAAAACTGTGG	0.294																																					p.K427fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1279delA	17						.						101.0	113.0	108.0					17																	30529866		2203	4298	6501	27553979	SO:0001589	frameshift_variant	55288	exon15			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1279delA	17.37:g.30529866delA	ENSP00000334724:p.Lys427fs	Somatic		Capture	Illumina HiSeq	Phase_I	27553979	NM_001033566	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Frame_Shift_Del	DEL	ENST00000333942.6	37	CCDS32612.1																																																																																				0.294	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307	
ABCA5	23461	broad.mit.edu	37	17	67302912	67302912	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:67302912delT	ENST00000392676.3	-	6	806	c.742delA	c.(742-744)atafs	p.I248fs	ABCA5_ENST00000392677.2_Frame_Shift_Del_p.I248fs|ABCA5_ENST00000588877.1_Frame_Shift_Del_p.I248fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I248L(1)|p.I248fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AATTCTTTTATTTTTTTTTCT	0.244																																					p.I248X												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)	c.742delA	17						.		,	44,4040		4,36,2002	15.0	17.0	16.0		,	5.1	1.0	17		16	81,8015		1,79,3968	no	frameshift,frameshift	ABCA5	NM_172232.2,NM_018672.3	,	5,115,5970	A1A1,A1R,RR		1.0005,1.0774,1.0263	,	,	67302912	125,12055	2130	4239	6369	64814507	SO:0001589	frameshift_variant	23461	exon6			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.742delA	17.37:g.67302912delT	ENSP00000376443:p.Ile248fs	Somatic		Capture	Illumina HiSeq	Phase_I	64814507	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Del	DEL	ENST00000392676.3	37	CCDS11685.1																																																																																				0.244	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
CSNK1D	1453	broad.mit.edu	37	17	80213348	80213348	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr17:80213348C>A	ENST00000314028.6	-	3	642	c.293G>T	c.(292-294)aGg>aTg	p.R98M	AC132872.2_ENST00000598222.1_5'Flank|CSNK1D_ENST00000392334.2_Missense_Mutation_p.R98M|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Missense_Mutation_p.R98M	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R98M(2)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GCTGAATTTCCTGGAGCAGAA	0.542																																					p.R98M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G293T	17						.						153.0	125.0	135.0					17																	80213348		2203	4300	6503	77806637	SO:0001583	missense	1453	exon3				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.293G>T	17.37:g.80213348C>A	ENSP00000324464:p.Arg98Met	Somatic		Capture	Illumina HiSeq	Phase_I	77806637	NM_139062	A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129071	0.94473	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000403276	T;T;T	0.66638	-0.22;-0.22;-0.22	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89894	0.6847	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.994;1.0	D	0.93699	0.7014	10	0.87932	D	0	.	18.69	0.91580	0.0:1.0:0.0:0.0	.	98;98;41	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	M	98;98;41;98	ENSP00000324464:R98M;ENSP00000376146:R98M;ENSP00000385769:R98M	ENSP00000324464:R98M	R	-	2	0	CSNK1D	77806637	0.978000	0.34361	0.984000	0.44739	0.978000	0.69477	7.665000	0.83852	2.663000	0.90544	0.651000	0.88453	AGG		0.542	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062	
THOC1	9984	broad.mit.edu	37	18	265347	265348	+	Frame_Shift_Ins	INS	-	-	T	rs369918372		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:265347_265348insT	ENST00000261600.6	-	3	151_152	c.144_145insA	c.(142-147)aaatgtfs	p.C49fs	THOC1_ENST00000582313.1_5'UTR|RP11-705O1.8_ENST00000581677.1_lincRNA	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	49					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.C49fs*4(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCAAGGGTACATTTTTTTTCAT	0.277																																					p.C49fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.145_146insA	18						.																																			255348	SO:0001589	frameshift_variant	9984	exon3			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.145dupA	18.37:g.265355_265355dupT	ENSP00000261600:p.Cys49fs	Somatic		Capture	Illumina HiSeq	Phase_I	255347	NM_005131	B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Ins	INS	ENST00000261600.6	37	CCDS45820.1																																																																																				0.277	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131	
APCDD1	147495	broad.mit.edu	37	18	10485592	10485592	+	Missense_Mutation	SNP	G	G	A	rs374082304		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:10485592G>A	ENST00000355285.5	+	4	1262	c.908G>A	c.(907-909)cGc>cAc	p.R303H	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1									p.R303H(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TGTGAGGTGCGCCCCGAAGTC	0.612																																					p.R303H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G908A	18						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	70.0	80.0		908	4.1	1.0	18		80	0,8600		0,0,4300	no	missense	APCDD1	NM_153000.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	303/515	10485592	1,13005	2203	4300	6503	10475592	SO:0001583	missense	147495	exon4			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.908G>A	18.37:g.10485592G>A	ENSP00000347433:p.Arg303His	Somatic		Capture	Illumina HiSeq	Phase_I	10475592	NM_153000		Missense_Mutation	SNP	ENST00000355285.5	37	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690991	0.88735	2.27E-4	0.0	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.40476	1.03	4.94	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	M	0.73962	2.25	0.80722	D	1	D	0.59357	0.985	P	0.53861	0.736	T	0.63849	-0.6544	10	0.66056	D	0.02	-43.7927	14.4325	0.67259	0.0:0.1483:0.8517:0.0	.	303	Q8J025	APCD1_HUMAN	H	303;354	ENSP00000347433:R303H	ENSP00000347433:R303H	R	+	2	0	APCDD1	10475592	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.263000	0.95617	1.288000	0.44600	0.561000	0.74099	CGC		0.612	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000	
C18orf8	29919	broad.mit.edu	37	18	21086953	21086953	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:21086953G>A	ENST00000269221.3	+	3	309	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	C18orf8_ENST00000590868.1_Missense_Mutation_p.V67M	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	67						lysosomal membrane (GO:0005765)		p.V67M(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAAAGGAGAAGTGAAGTGCAT	0.333																																					p.V67M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	18						.						158.0	170.0	166.0					18																	21086953		2203	4300	6503	19340951	SO:0001583	missense	29919	exon3			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.199G>A	18.37:g.21086953G>A	ENSP00000269221:p.Val67Met	Somatic		Capture	Illumina HiSeq	Phase_I	19340951	NM_013326	Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879653	0.91740	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.18016	2.24	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.47058	-0.9146	10	0.87932	D	0	-21.9169	20.2985	0.98592	0.0:0.0:1.0:0.0	.	67;67	Q96DM3;F5H2W0	MIC1_HUMAN;.	M	67	ENSP00000269221:V67M	ENSP00000269221:V67M	V	+	1	0	C18orf8	19340951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.119000	0.94362	2.793000	0.96121	0.655000	0.94253	GTG		0.333	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326	
LAMA3	3909	broad.mit.edu	37	18	21407337	21407337	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:21407337C>T	ENST00000313654.9	+	23	2970	c.2729C>T	c.(2728-2730)gCc>gTc	p.A910V	LAMA3_ENST00000399516.3_Missense_Mutation_p.A910V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	910	Domain IV 1 (domain IV B).				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)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.A910V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCTTGTGAGGCCAGACACTTC	0.547																																					p.A910V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2729T	18						.						118.0	120.0	120.0					18																	21407337		2027	4185	6212	19661335	SO:0001583	missense	3909	exon23			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2729C>T	18.37:g.21407337C>T	ENSP00000324532:p.Ala910Val	Somatic		Capture	Illumina HiSeq	Phase_I	19661335	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257649	0.59321	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19250	2.17;2.16	5.65	4.72	0.59763	.	.	.	.	.	T	0.25232	0.0613	M	0.76002	2.32	0.80722	D	1	P;P	0.38110	0.618;0.56	B;B	0.34093	0.175;0.132	T	0.06862	-1.0803	9	0.51188	T	0.08	.	13.5295	0.61613	0.0:0.8443:0.1557:0.0	.	910;910	Q6VU67;Q16787	.;LAMA3_HUMAN	V	910;910;908	ENSP00000324532:A910V;ENSP00000382432:A910V	ENSP00000324532:A910V	A	+	2	0	LAMA3	19661335	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.457000	0.45005	2.642000	0.89623	0.655000	0.94253	GCC		0.547	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
RNF138	51444	broad.mit.edu	37	18	29672848	29672848	+	Splice_Site	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:29672848G>A	ENST00000261593.3	+	2	567	c.109G>A	c.(109-111)Gtt>Att	p.V37I	RNF138_ENST00000585103.1_3'UTR|RNF138_ENST00000257190.5_Splice_Site_p.V37I|RP11-53I6.2_ENST00000583184.1_RNA|RP11-53I6.3_ENST00000582233.1_RNA|snoU13_ENST00000459168.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	37					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.V37I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTGTCAGCACGTGTGAGTAGA	0.701																																					p.V37I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	18						.						33.0	28.0	30.0					18																	29672848		2202	4298	6500	27926846	SO:0001630	splice_region_variant	51444	exon2			AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.110+1G>A	18.37:g.29672848G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27926846	NM_016271	B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358375	0.61403	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D;T	0.86297	-2.1;-1.05	4.76	3.89	0.44902	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.241343	0.27379	N	0.019636	T	0.74935	0.3782	N	0.25957	0.775	0.21527	N	0.999657	B;B	0.31859	0.003;0.343	B;B	0.25884	0.001;0.064	T	0.61153	-0.7120	10	0.21014	T	0.42	-21.6844	8.7281	0.34483	0.1019:0.0:0.8981:0.0	.	37;37	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	I	37	ENSP00000261593:V37I;ENSP00000257190:V37I	ENSP00000257190:V37I	V	+	1	0	RNF138	27926846	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.390000	0.44416	1.235000	0.43724	0.561000	0.74099	GTT;GTC		0.701	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271	Missense_Mutation
CELF4	56853	broad.mit.edu	37	18	34850745	34850745	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:34850745A>G	ENST00000591282.1	-	8	1084	c.1085T>C	c.(1084-1086)aTc>aCc	p.I362T	CELF4_ENST00000601019.1_Missense_Mutation_p.I360T|CELF4_ENST00000420428.2_Missense_Mutation_p.I362T|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.I352T|CELF4_ENST00000591287.1_Missense_Mutation_p.I361T|CELF4_ENST00000361795.5_Missense_Mutation_p.I360T|CELF4_ENST00000588597.1_Missense_Mutation_p.I351T|CELF4_ENST00000603232.1_Missense_Mutation_p.I361T|CELF4_ENST00000412753.1_Missense_Mutation_p.I361T			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	362					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.I362T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GTAGGGGTGGATGCCATTGGC	0.552																																					p.I352T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1055C	18						.						106.0	88.0	94.0					18																	34850745		2203	4300	6503	33104743	SO:0001583	missense	56853	exon8			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1085T>C	18.37:g.34850745A>G	ENSP00000464794:p.Ile362Thr	Somatic		Capture	Illumina HiSeq	Phase_I	33104743	NM_001025089	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138505	0.77775	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.74737	-0.81;-0.87	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	L	0.58428	1.81	0.58432	D	0.999994	P;P;D;P;P;P	0.53462	0.523;0.902;0.96;0.562;0.712;0.645	B;P;D;B;P;B	0.66979	0.358;0.48;0.948;0.343;0.457;0.299	D	0.84338	0.0525	10	0.62326	D	0.03	-10.3469	14.2476	0.65999	1.0:0.0:0.0:0.0	.	360;351;87;352;361;362	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	T	362;361;360;352	ENSP00000406823:I361T;ENSP00000335631:I352T	ENSP00000335631:I352T	I	-	2	0	CELF4	33104743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.761000	0.91691	1.949000	0.56562	0.455000	0.32223	ATC		0.552	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180	
LIPG	9388	broad.mit.edu	37	18	47101933	47101933	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:47101933G>A	ENST00000261292.4	+	5	1044	c.766G>A	c.(766-768)Gat>Aat	p.D256N	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Missense_Mutation_p.D292N|LIPG_ENST00000580036.1_Missense_Mutation_p.D256N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	256					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.D256N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGGACTCAACGATGTCTTGGG	0.483																																					p.D256N	Pancreas(126;280 1778 12814 26243 34948)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G766A	18						.						76.0	63.0	67.0					18																	47101933		2203	4300	6503	45355931	SO:0001583	missense	9388	exon5			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.766G>A	18.37:g.47101933G>A	ENSP00000261292:p.Asp256Asn	Somatic		Capture	Illumina HiSeq	Phase_I	45355931	NM_006033	B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949266	0.18356	.	.	ENSG00000101670	ENST00000261292	D	0.90069	-2.61	5.72	3.9	0.45041	Lipase, N-terminal (1);	0.262486	0.37530	N	0.002057	T	0.74336	0.3703	N	0.11651	0.15	0.46396	D	0.999023	P;P	0.39443	0.592;0.674	B;B	0.35770	0.21;0.133	T	0.69232	-0.5199	10	0.11182	T	0.66	-11.8577	10.6883	0.45856	0.0684:0.0:0.7993:0.1323	.	256;256	Q9Y5X9;Q9Y5X9-2	LIPE_HUMAN;.	N	256	ENSP00000261292:D256N	ENSP00000261292:D256N	D	+	1	0	LIPG	45355931	1.000000	0.71417	0.004000	0.12327	0.491000	0.33493	6.824000	0.75288	0.739000	0.32628	0.591000	0.81541	GAT		0.483	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033	
MBD1	4152	broad.mit.edu	37	18	47802077	47802077	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:47802077G>A	ENST00000591416.1	-	8	1116	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	MBD1_ENST00000347968.3_Missense_Mutation_p.R229W|MBD1_ENST00000349085.2_Missense_Mutation_p.R229W|MBD1_ENST00000587605.1_Missense_Mutation_p.R229W|MBD1_ENST00000353909.3_Missense_Mutation_p.R180W|MBD1_ENST00000382948.5_Missense_Mutation_p.R229W|MBD1_ENST00000457839.2_Missense_Mutation_p.R229W|MBD1_ENST00000590208.1_Missense_Mutation_p.R229W|MBD1_ENST00000398493.1_Missense_Mutation_p.R229W|MBD1_ENST00000269471.5_Missense_Mutation_p.R229W|MBD1_ENST00000269468.5_Missense_Mutation_p.R229W|MBD1_ENST00000398488.1_Missense_Mutation_p.R229W|MBD1_ENST00000424334.2_Missense_Mutation_p.R255W|MBD1_ENST00000436910.1_Missense_Mutation_p.R229W|MBD1_ENST00000585595.1_Missense_Mutation_p.R229W|MBD1_ENST00000585672.1_Missense_Mutation_p.R180W|MBD1_ENST00000339998.6_Missense_Mutation_p.R229W|MBD1_ENST00000398495.2_Missense_Mutation_p.R229W|MBD1_ENST00000591535.1_Missense_Mutation_p.R229W|MBD1_ENST00000588937.1_Missense_Mutation_p.R229W			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	229					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R229W(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGACAGCCCCGGCATACTCCA	0.667																																					p.R180W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538T	18						.						57.0	49.0	52.0					18																	47802077		2203	4300	6503	46056075	SO:0001583	missense	4152	exon7			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.685C>T	18.37:g.47802077G>A	ENSP00000467017:p.Arg229Trp	Somatic		Capture	Illumina HiSeq	Phase_I	46056075	NM_015847	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954520	0.73902	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95724	-3.77;-3.76;-3.72;-3.77;-3.72;-3.74;-3.74;-3.79;-3.76;-3.75;-3.78;-3.72;-3.72	4.91	4.01	0.46588	Zinc finger, CXXC-type (2);	0.420544	0.20408	N	0.092904	D	0.95633	0.8580	L	0.36672	1.1	0.34327	D	0.687265	D;D;D;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;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.994;0.999;0.985;0.993;0.985;0.997;0.985;0.978;0.993;0.995;0.993;0.997	D	0.96131	0.9092	10	0.45353	T	0.12	-15.1991	11.889	0.52618	0.0922:0.0:0.9078:0.0	.	229;255;229;229;229;229;180;229;229;229;229;229	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	W	229;180;229;229;229;229;229;255;229;229;229;229;229	ENSP00000372407:R229W;ENSP00000269469:R180W;ENSP00000342531:R229W;ENSP00000269468:R229W;ENSP00000285102:R229W;ENSP00000409561:R229W;ENSP00000269471:R229W;ENSP00000408846:R255W;ENSP00000339546:R229W;ENSP00000381508:R229W;ENSP00000405268:R229W;ENSP00000381506:R229W;ENSP00000381502:R229W	ENSP00000269468:R229W	R	-	1	2	MBD1	46056075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.599000	0.36751	2.418000	0.82041	0.655000	0.94253	CGG		0.667	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	
SMAD4	4089	broad.mit.edu	37	18	48604665	48604665	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:48604665G>A	ENST00000342988.3	+	12	2025	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	496	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R496H(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGACCTTCGTCGCTTATGC	0.468																																					p.R496H												SMAD4,thyroid,NS,Substitution - Missense,0 	.	40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|thyroid(1)|oesophagus(1)	c.G1487A	18						.						122.0	105.0	111.0					18																	48604665		2203	4300	6503	46858663	SO:0001583	missense	4089	exon12			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1487G>A	18.37:g.48604665G>A	ENSP00000341551:p.Arg496His	Somatic		Capture	Illumina HiSeq	Phase_I	46858663	NM_005359	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538817	0.85917	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98862	-5.19;-5.19	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.049689	0.85682	D	0.000000	D	0.99124	0.9698	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	D	0.99813	1.1042	10	0.72032	D	0.01	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	496	Q13485	SMAD4_HUMAN	H	496	ENSP00000341551:R496H;ENSP00000381452:R496H	ENSP00000341551:R496H	R	+	2	0	SMAD4	46858663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.586000	0.98226	2.843000	0.97960	0.655000	0.94253	CGT		0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
DCC	1630	broad.mit.edu	37	18	50432645	50432645	+	Missense_Mutation	SNP	G	G	A	rs112433088	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:50432645G>A	ENST00000442544.2	+	3	1260	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	DCC_ENST00000412726.1_Missense_Mutation_p.R63Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	215	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R215Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCTCAGCTCGAAATCCAGCC	0.483																																					p.R215Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	18						.						91.0	89.0	90.0					18																	50432645		2203	4300	6503	48686643	SO:0001583	missense	1630	exon3			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.644G>A	18.37:g.50432645G>A	ENSP00000389140:p.Arg215Gln	Somatic		Capture	Illumina HiSeq	Phase_I	48686643	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145232	0.57044	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.66460	-0.21;-0.21	5.71	4.83	0.62350	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.174644	0.42053	D	0.000775	T	0.46092	0.1375	N	0.17838	0.53	0.80722	D	1	B;B	0.22683	0.072;0.073	B;B	0.20955	0.003;0.032	T	0.39099	-0.9630	10	0.25106	T	0.35	.	6.6153	0.22773	0.2322:0.0:0.7678:0.0	.	63;215	E7EQM8;P43146	.;DCC_HUMAN	Q	215;148;63	ENSP00000389140:R215Q;ENSP00000397322:R63Q	ENSP00000304146:R148Q	R	+	2	0	DCC	48686643	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	5.456000	0.66665	2.688000	0.91661	0.655000	0.94253	CGA		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
C18orf54	162681	broad.mit.edu	37	18	51898870	51898870	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:51898870C>A	ENST00000300091.5	+	6	1210	c.878C>A	c.(877-879)cCt>cAt	p.P293H	C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Missense_Mutation_p.P72H|C18orf54_ENST00000382911.4_Missense_Mutation_p.P454H	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	293						extracellular region (GO:0005576)		p.P293H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CATCATGGTCCTGTTGAAGCC	0.353																																					p.P293H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C878A	18						.						125.0	119.0	121.0					18																	51898870		2203	4300	6503	50152868	SO:0001583	missense	162681	exon6			AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.878C>A	18.37:g.51898870C>A	ENSP00000300091:p.Pro293His	Somatic		Capture	Illumina HiSeq	Phase_I	50152868	NM_173529	I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310324	0.40895	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.17528	2.27;2.27	5.72	5.72	0.89469	.	0.063203	0.64402	D	0.000006	T	0.44414	0.1292	M	0.71581	2.175	0.44816	D	0.997829	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.27872	-1.0061	10	0.72032	D	0.01	-14.5758	18.7079	0.91645	0.0:1.0:0.0:0.0	.	454;293	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	H	293;454	ENSP00000300091:P293H;ENSP00000372368:P454H	ENSP00000300091:P293H	P	+	2	0	C18orf54	50152868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.152000	0.64882	2.721000	0.93114	0.585000	0.79938	CCT		0.353	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529	
ALPK2	115701	broad.mit.edu	37	18	56246888	56246888	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:56246888A>G	ENST00000361673.3	-	4	1333	c.1120T>C	c.(1120-1122)Tgt>Cgt	p.C374R	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	374						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C374R(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAATGCTCACACCCACCCAGG	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C374R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1120C	18						.						126.0	113.0	117.0					18																	56246888		2203	4300	6503	54397868	SO:0001583	missense	115701	exon4			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1120T>C	18.37:g.56246888A>G	ENSP00000354991:p.Cys374Arg	Somatic	1014	Capture	Illumina HiSeq	Phase_I	54397868	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	13.56	2.275023	0.40194	.	.	ENSG00000198796	ENST00000361673	T	0.53206	0.63	5.83	-3.1	0.05315	.	0.470519	0.15965	N	0.236061	T	0.36991	0.0987	L	0.58101	1.795	0.50632	D	0.999883	B	0.19200	0.034	B	0.16722	0.016	T	0.06570	-1.0819	10	0.87932	D	0	-0.0041	5.9006	0.18964	0.5052:0.229:0.2658:0.0	.	374	Q86TB3	ALPK2_HUMAN	R	374	ENSP00000354991:C374R	ENSP00000354991:C374R	C	-	1	0	ALPK2	54397868	0.994000	0.37717	0.609000	0.28983	0.987000	0.75469	0.341000	0.19909	-0.787000	0.04510	0.459000	0.35465	TGT		0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
CDH20	28316	broad.mit.edu	37	18	59221532	59221532	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:59221532C>T	ENST00000262717.4	+	12	2408	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	CDH20_ENST00000536675.2_Silent_p.G670G|CDH20_ENST00000538374.1_Silent_p.G670G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	670					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G670G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACGAGGGCGGCGGCGAGGAGG	0.652																																					p.G670G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2010T	18						.						104.0	104.0	104.0					18																	59221532		2203	4300	6503	57372512	SO:0001819	synonymous_variant	28316	exon11			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2010C>T	18.37:g.59221532C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57372512	NM_031891	Q495S3	Silent	SNP	ENST00000262717.4	37	CCDS11977.1																																																																																				0.652	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
RNF152	220441	broad.mit.edu	37	18	59483549	59483549	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:59483549G>A	ENST00000312828.3	-	2	1247	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	50					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R50W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CAGGGGCACCGCACATCCTTC	0.642																																					p.R50W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148T	18						.						48.0	50.0	50.0					18																	59483549		2203	4300	6503	57634529	SO:0001583	missense	220441	exon2			AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.148C>T	18.37:g.59483549G>A	ENSP00000316628:p.Arg50Trp	Somatic		Capture	Illumina HiSeq	Phase_I	57634529	NM_173557	B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	37	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538989	0.65085	.	.	ENSG00000176641	ENST00000312828	D	0.92647	-3.08	4.97	-2.51	0.06365	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.95223	0.8451	M	0.72479	2.2	0.50813	D	0.999892	D	0.89917	1.0	D	0.83275	0.996	D	0.92966	0.6393	10	0.62326	D	0.03	-36.0116	20.9767	0.99942	0.0:0.0:0.7741:0.2259	.	50	Q8N8N0	RN152_HUMAN	W	50	ENSP00000316628:R50W	ENSP00000316628:R50W	R	-	1	2	RNF152	57634529	1.000000	0.71417	0.883000	0.34634	0.982000	0.71751	0.739000	0.26173	-0.602000	0.05775	-0.262000	0.10625	CGG		0.642	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557	
CNDP2	55748	broad.mit.edu	37	18	72176134	72176134	+	Missense_Mutation	SNP	G	G	A	rs149206732		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:72176134G>A	ENST00000324262.4	+	5	743	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	CNDP2_ENST00000579847.1_Missense_Mutation_p.A143T|CNDP2_ENST00000324301.8_Intron	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	143					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.A143T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGGATAAACGCCCTGGAAGC	0.517																																					p.A143T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	18						.	G	,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	72.0	67.0	69.0		,427	5.6	0.9	18	dbSNP_134	69	0,8600		0,0,4300	no	intron,missense	CNDP2	NM_001168499.1,NM_018235.2	,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,benign	,143/476	72176134	2,13004	2203	4300	6503	70327114	SO:0001583	missense	55748	exon5			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.427G>A	18.37:g.72176134G>A	ENSP00000325548:p.Ala143Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70327114	NM_018235	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585883	0.46110	4.54E-4	0.0	ENSG00000133313	ENST00000324262	T	0.60672	0.17	5.57	5.57	0.84162	ArgE/DapE/ACY1/CPG2/YscS, conserved site (1);	0.240486	0.45361	D	0.000374	T	0.68016	0.2955	M	0.90425	3.115	0.80722	D	1	P;P	0.37864	0.61;0.61	B;B	0.35859	0.212;0.212	T	0.75528	-0.3286	10	0.66056	D	0.02	-8.5718	19.5581	0.95361	0.0:0.0:1.0:0.0	.	131;143	B4DV28;Q96KP4	.;CNDP2_HUMAN	T	143	ENSP00000325548:A143T	ENSP00000325548:A143T	A	+	1	0	CNDP2	70327114	1.000000	0.71417	0.938000	0.37757	0.722000	0.41435	3.792000	0.55476	2.614000	0.88457	0.655000	0.94253	GCC		0.517	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
TSHZ1	10194	broad.mit.edu	37	18	73000139	73000139	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:73000139G>T	ENST00000580243.1	+	2	3125	c.2777G>T	c.(2776-2778)aGg>aTg	p.R926M	TSHZ1_ENST00000322038.5_Missense_Mutation_p.R881M			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	926					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R881M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGCAGGAGAGGGTGCACATC	0.582																																					p.R881M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2642T	18						.						62.0	57.0	59.0					18																	73000139		2203	4300	6503	71129127	SO:0001583	missense	10194	exon2			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2777G>T	18.37:g.73000139G>T	ENSP00000464391:p.Arg926Met	Somatic		Capture	Illumina HiSeq	Phase_I	71129127	NM_005786	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	G	10.76	1.440136	0.25900	.	.	ENSG00000179981	ENST00000322038	T	0.26373	1.74	4.57	4.57	0.56435	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	M	0.70275	2.135	0.47123	D	0.999323	D	0.89917	1.0	D	0.83275	0.996	T	0.50389	-0.8834	10	0.87932	D	0	-39.7336	17.9077	0.88925	0.0:0.0:1.0:0.0	.	926	Q6ZSZ6	TSH1_HUMAN	M	881	ENSP00000323584:R881M	ENSP00000323584:R881M	R	+	2	0	TSHZ1	71129127	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	9.208000	0.95075	-0.339000	0.08401	-0.182000	0.12963	AGG		0.582	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786	
MTCL1	23255	broad.mit.edu	37	18	8783876	8783876	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:8783876G>A	ENST00000306329.11	+	5	1846	c.1846G>A	c.(1846-1848)Gca>Aca	p.A616T	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Missense_Mutation_p.A256T|SOGA2_ENST00000400050.3_Missense_Mutation_p.A256T|SOGA2_ENST00000517570.1_Missense_Mutation_p.A256T														p.A256T(1)									TCGGGACCACGCACCCAGCAT	0.652																																					p.A256T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G766A	18						.						54.0	55.0	55.0					18																	8783876		2203	4300	6503	8773876	SO:0001583	missense	23255	exon6																														ENST00000306329.11:c.1846G>A	18.37:g.8783876G>A	ENSP00000305027:p.Ala616Thr	Somatic		Capture	Illumina HiSeq	Phase_I	8773876	NM_015210		Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	4.167	0.029529	0.08054	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.14144	2.53;2.54;2.53	5.67	-6.8	0.01709	.	2.239820	0.01810	N	0.033407	T	0.05044	0.0135	N	0.08118	0	0.33152	D	0.545855	P;P	0.38370	0.628;0.621	B;B	0.27500	0.037;0.08	T	0.35943	-0.9768	10	0.13108	T	0.6	-0.034	10.2394	0.43303	0.2305:0.3673:0.4021:0.0	.	277;256	A8MQ54;Q9Y4B5-3	.;.	T	277;256;256;256	ENSP00000429556:A256T;ENSP00000352927:A256T;ENSP00000382924:A256T	ENSP00000305027:A277T	A	+	1	0	CCDC165	8773876	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.429000	0.06982	-1.179000	0.02737	-0.315000	0.08773	GCA		0.652	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433																																					p.K109fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.326delA	18						.																																			13671751	SO:0001589	frameshift_variant	125228	exon2			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.326delA	18.37:g.13681751delT	ENSP00000323635:p.Lys109fs	Somatic		Capture	Illumina HiSeq	Phase_I	13671751	NM_152352	D3DUJ4	Frame_Shift_Del	DEL	ENST00000322247.3	37	CCDS11866.1																																																																																				0.433	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352	
SMAD4	4089	broad.mit.edu	37	18	48573505	48573506	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:48573505_48573506delGA	ENST00000342988.3	+	2	627_628	c.89_90delGA	c.(88-90)ggafs	p.G30fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.G30fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Frame_Shift_Del_p.G30fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.G30fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	30	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)|p.S32fs*1(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGACAAGGTGGAGAGAGTGAAA	0.347																																					p.30_30del												.	.	43	Whole gene deletion(36)|Unknown(5)|Deletion - Frameshift(2)	pancreas(26)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|biliary_tract(1)|oesophagus(1)|NS(1)	c.89_90del	18						.																																			46827504	SO:0001589	frameshift_variant	4089	exon2			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.89_90delGA	18.37:g.48573509_48573510delGA	ENSP00000341551:p.Gly30fs	Somatic		Capture	Illumina HiSeq	Phase_I	46827503	NM_005359	A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	CCDS11950.1																																																																																				0.347	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SALL3	27164	broad.mit.edu	37	18	76753464	76753464	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr18:76753464G>A	ENST00000537592.2	+	2	1473	c.1473G>A	c.(1471-1473)gtG>gtA	p.V491V	SALL3_ENST00000536229.3_Silent_p.V358V|SALL3_ENST00000575389.2_Silent_p.V491V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	491					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.V491V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGGACAACGTGCCCACCTGCT	0.642																																					p.V491V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1473A	18						.						50.0	43.0	45.0					18																	76753464		2203	4300	6503	74854452	SO:0001819	synonymous_variant	27164	exon2			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1473G>A	18.37:g.76753464G>A		Somatic		Capture	Illumina HiSeq	Phase_I	74854452	NM_171999	Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																				0.642	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
VASP	7408	broad.mit.edu	37	19	46025611	46025612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:46025611_46025612insC	ENST00000245932.6	+	6	848_849	c.492_493insC	c.(493-495)cccfs	p.P165fs		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	165	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)	p.A167fs*88(1)|p.A167fs*101(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GCCCACCTGCTCCCCCCGCTGG	0.668																																					p.A164fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.492_493insC	19						.																																			50717452	SO:0001589	frameshift_variant	7408	exon6				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.498dupC	19.37:g.46025617_46025617dupC	ENSP00000245932:p.Pro165fs	Somatic		Capture	Illumina HiSeq	Phase_I	50717451	NM_003370	B2RBT9|Q6PIZ1|Q93035	Frame_Shift_Ins	INS	ENST00000245932.6	37	CCDS33051.1																																																																																				0.668	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1		
IL11	3589	broad.mit.edu	37	19	55880230	55880231	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:55880230_55880231insG	ENST00000264563.2	-	2	148_149	c.86_87insC	c.(85-87)cctfs	p.P29fs	IL11_ENST00000585513.1_Frame_Shift_Ins_p.P29fs|IL11_ENST00000590625.1_Intron	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	29					B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|fat cell differentiation (GO:0045444)|megakaryocyte differentiation (GO:0030219)|negative regulation of hormone secretion (GO:0046888)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-11 receptor binding (GO:0005142)	p.R30fs*38(1)		large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGAAACTCGAGGGGGGCCAGG	0.683																																					p.P29fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.87_88insC	19						.																																			60572043	SO:0001589	frameshift_variant	3589	exon2			X58377	CCDS12923.1, CCDS59423.1	19q13.3-q13.4	2014-01-30			ENSG00000095752	ENSG00000095752		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5966	protein-coding gene	gene with protein product	"""adipogenesis inhibitory factor"", ""oprelvekin"""	147681				1386338	Standard	NM_001267718		Approved	IL-11, AGIF	uc002qks.2	P20809		ENST00000264563.2:c.87dupC	19.37:g.55880236_55880236dupG	ENSP00000264563:p.Pro29fs	Somatic		Capture	Illumina HiSeq	Phase_I	60572042	NM_000641	B4DQV5|Q96EB4	Frame_Shift_Ins	INS	ENST00000264563.2	37	CCDS12923.1																																																																																				0.683	IL11-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453027.1	NM_000641	
MUM1	84939	broad.mit.edu	37	19	1367212	1367212	+	Missense_Mutation	SNP	C	C	T	rs145648400	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:1367212C>T	ENST00000415183.3	+	8	1444	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	MUM1_ENST00000311401.5_Missense_Mutation_p.T404M|MUM1_ENST00000591806.1_Missense_Mutation_p.T473M|MUM1_ENST00000344663.3_Missense_Mutation_p.T473M			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	472					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)	p.T473M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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)		GAGAAACAGACGCTTCTGGTA	0.373													C|||	5	0.000998403	0.0	0.0	5008	,	,		20825	0.005		0.0	False		,,,				2504	0.0				p.T473M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1418T	19						.						210.0	215.0	213.0					19																	1367212		2203	4300	6503	1318212	SO:0001583	missense	84939	exon9			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1418C>T	19.37:g.1367212C>T	ENSP00000394925:p.Thr473Met	Somatic		Capture	Illumina HiSeq	Phase_I	1318212	NM_032853	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37		4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	13.82	2.352187	0.41700	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.43688	0.94;0.94;0.94	5.45	-1.61	0.08399	.	1.243590	0.05263	N	0.516092	T	0.24736	0.0600	N	0.12182	0.205	0.09310	N	1	B;B;D;B	0.60575	0.037;0.1;0.988;0.193	B;B;P;B	0.55222	0.009;0.009;0.771;0.027	T	0.14727	-1.0462	10	0.37606	T	0.19	.	2.2275	0.03988	0.4278:0.2518:0.2238:0.0965	.	473;473;404;472	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	M	473;404;473	ENSP00000345789:T473M;ENSP00000309135:T404M;ENSP00000394925:T473M	ENSP00000309135:T404M	T	+	2	0	MUM1	1318212	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.779000	0.26746	-0.061000	0.13110	-0.175000	0.13238	ACG		0.373	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853	
LDLR	3949	broad.mit.edu	37	19	11210922	11210922	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:11210922G>A	ENST00000558518.1	+	2	278	c.91G>A	c.(91-93)Gag>Aag	p.E31K	LDLR_ENST00000557933.1_Missense_Mutation_p.E31K|LDLR_ENST00000535915.1_Missense_Mutation_p.E31K|LDLR_ENST00000455727.2_Missense_Mutation_p.E31K|LDLR_ENST00000558013.1_Missense_Mutation_p.E31K|LDLR_ENST00000545707.1_Missense_Mutation_p.E31K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	31	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.			E -> D (in Ref. 4; BAG58495). {ECO:0000305}.	cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.E31K(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CGAAAGAAACGAGTTCCAGTG	0.532																																					p.D31N	GBM(18;201 575 7820 21545)											.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|lung(1)	c.G91A	19	GRCh37	CM960928	LDLR	M		.						133.0	114.0	121.0					19																	11210922		2203	4300	6503	11071922	SO:0001583	missense	3949	exon2			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.91G>A	19.37:g.11210922G>A	ENSP00000454071:p.Glu31Lys	Somatic		Capture	Illumina HiSeq	Phase_I	11071922	NM_001195802	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658744	0.67586	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.95949	-3.86;-3.86;-3.86	5.51	4.45	0.53987	.	0.099942	0.40728	N	0.001025	D	0.96599	0.8890	L	0.58810	1.83	0.46078	D	0.998851	D;B;D;D;D	0.69078	0.987;0.006;0.991;0.995;0.997	P;B;P;P;D	0.66602	0.898;0.029;0.845;0.884;0.945	D	0.96230	0.9167	10	0.46703	T	0.11	.	15.134	0.72549	0.0:0.1425:0.8575:0.0	.	31;31;31;43;31	B4DR00;B4DJZ8;B4DTQ3;Q59FQ1;P01130	.;.;.;.;LDLR_HUMAN	K	31	ENSP00000437639:E31K;ENSP00000440520:E31K;ENSP00000397829:E31K	ENSP00000252444:E31K	E	+	1	0	LDLR	11071922	0.999000	0.42202	0.442000	0.26870	0.567000	0.35839	2.669000	0.46825	1.278000	0.44430	0.585000	0.79938	GAG		0.532	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
OR1I1	126370	broad.mit.edu	37	19	15198536	15198536	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:15198536C>T	ENST00000209540.2	+	1	746	c.660C>T	c.(658-660)cgC>cgT	p.R220R		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R220R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CGTACATCCGCATTTTCTGGA	0.532																																					p.R220R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660T	19						.						173.0	129.0	144.0					19																	15198536		2203	4300	6503	15059536	SO:0001819	synonymous_variant	126370	exon1			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.660C>T	19.37:g.15198536C>T		Somatic		Capture	Illumina HiSeq	Phase_I	15059536	NM_001004713	Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																				0.532	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1		
NOTCH3	4854	broad.mit.edu	37	19	15291543	15291543	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:15291543G>A	ENST00000263388.2	-	19	3166	c.3091C>T	c.(3091-3093)Cgc>Tgc	p.R1031C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1031	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.		R -> C (in CADASIL). {ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:9388399}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R1031C(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCACAGAGGCGTCCGCTCCAT	0.662																																					p.R1031C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3091T	19	GRCh37	CM971070	NOTCH3	M		.						32.0	29.0	30.0					19																	15291543		2191	4292	6483	15152543	SO:0001583	missense	4854	exon19			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3091C>T	19.37:g.15291543G>A	ENSP00000263388:p.Arg1031Cys	Somatic		Capture	Illumina HiSeq	Phase_I	15152543	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410444	0.42715	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.91843	-2.92	5.3	3.1	0.35709	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.554831	0.13699	N	0.369020	D	0.94843	0.8334	M	0.82056	2.57	0.58432	D	0.999994	D;P	0.60160	0.987;0.921	P;P	0.58172	0.834;0.773	D	0.92810	0.6263	10	0.48119	T	0.1	.	13.1352	0.59405	0.0:0.0:0.6817:0.3183	.	982;1031	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	1031;981	ENSP00000263388:R1031C	ENSP00000263388:R1031C	R	-	1	0	NOTCH3	15152543	0.434000	0.25570	0.015000	0.15790	0.038000	0.13279	2.691000	0.47010	0.537000	0.28751	0.563000	0.77884	CGC		0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
AKAP8	10270	broad.mit.edu	37	19	15465891	15465891	+	Silent	SNP	G	G	A	rs538149553		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:15465891G>A	ENST00000269701.2	-	14	1974	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	638					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G638G(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CCTTGGGGACGCCCTTCTCAT	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18069	0.0		0.0	False		,,,				2504	0.0				p.G638G	GBM(190;1671 2163 3274 27186 30476)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1914T	19						.						60.0	51.0	54.0					19																	15465891		2203	4300	6503	15326891	SO:0001819	synonymous_variant	10270	exon14			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1914C>T	19.37:g.15465891G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15326891	NM_005858		Silent	SNP	ENST00000269701.2	37	CCDS12329.1																																																																																				0.622	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
TPM4	7171	broad.mit.edu	37	19	16198892	16198892	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:16198892C>T	ENST00000300933.4	+	4	700	c.440C>T	c.(439-441)gCg>gTg	p.A147V	TPM4_ENST00000538887.1_Missense_Mutation_p.A183V|TPM4_ENST00000344824.6_Missense_Mutation_p.A183V	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	147					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.A183V(1)	TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAGGAGCGTGCGGAGGTGTCT	0.622			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A183V			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C548T	19						.						92.0	66.0	75.0					19																	16198892		2203	4300	6503	16059892	SO:0001583	missense	7171	exon5				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.440C>T	19.37:g.16198892C>T	ENSP00000300933:p.Ala147Val	Somatic	708	Capture	Illumina HiSeq	Phase_I	16059892	NM_001145160	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	ENST00000300933.4	37	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284861	0.80803	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	T;T;T	0.78003	-1.14;-1.14;-1.14	4.76	4.76	0.60689	.	0.000000	0.53938	U	0.000056	D	0.84719	0.5534	M	0.78285	2.405	0.80722	D	1	B;B	0.33044	0.395;0.322	B;P	0.46172	0.13;0.506	D	0.85985	0.1485	10	0.59425	D	0.04	.	17.139	0.86748	0.0:1.0:0.0:0.0	.	147;183	P67936;P67936-2	TPM4_HUMAN;.	V	183;183;147	ENSP00000345230:A183V;ENSP00000439135:A183V;ENSP00000300933:A147V	ENSP00000300933:A147V	A	+	2	0	TPM4	16059892	1.000000	0.71417	0.848000	0.33437	0.904000	0.53231	7.677000	0.84024	2.345000	0.79718	0.643000	0.83706	GCG		0.622	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290	
UPF1	5976	broad.mit.edu	37	19	18968311	18968311	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:18968311C>T	ENST00000599848.1	+	15	2393	c.2184C>T	c.(2182-2184)taC>taT	p.Y728Y	UPF1_ENST00000262803.5_Silent_p.Y717Y			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	728					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Y717Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACATCTTCTACGAGGGCTCCC	0.627																																					p.Y717Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2151T	19						.						39.0	37.0	38.0					19																	18968311		2203	4300	6503	18829311	SO:0001819	synonymous_variant	5976	exon15			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2184C>T	19.37:g.18968311C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18829311	NM_002911	O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37																																																																																					0.627	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
HAPLN4	404037	broad.mit.edu	37	19	19371710	19371710	+	Silent	SNP	G	G	A	rs372359274		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:19371710G>A	ENST00000291481.7	-	3	459	c.396C>T	c.(394-396)aaC>aaT	p.N132N	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	132	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.N132N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCAGCGTGACGTTGCGGAGGA	0.652																																					p.N132N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C396T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	73.0	66.0	68.0		396	-8.4	0.8	19		68	0,8600		0,0,4300	no	coding-synonymous	HAPLN4	NM_023002.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		132/403	19371710	1,13005	2203	4300	6503	19232710	SO:0001819	synonymous_variant	404037	exon3			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.396C>T	19.37:g.19371710G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19232710	NM_023002	A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	37	CCDS12398.1																																																																																				0.652	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002	
MAU2	23383	broad.mit.edu	37	19	19459985	19459985	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:19459985C>T	ENST00000392313.6	+	15	1559	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	MAU2_ENST00000262815.8_Silent_p.A460A	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	460					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.A460A(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TCCGAGCAGCCGCCTTCTATG	0.597																																					p.A460A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1380T	19						.						84.0	70.0	75.0					19																	19459985		2203	4300	6503	19320985	SO:0001819	synonymous_variant	23383	exon15			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1380C>T	19.37:g.19459985C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19320985	NM_015329	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	CCDS32969.2																																																																																				0.597	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	
MAU2	23383	broad.mit.edu	37	19	19465238	19465238	+	Silent	SNP	G	G	A	rs372700362		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:19465238G>A	ENST00000392313.6	+	17	1802	c.1623G>A	c.(1621-1623)tcG>tcA	p.S541S	MAU2_ENST00000262815.8_Silent_p.S541S	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	541					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.S541S(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AGCTGTGGTCGTCAGCACTGC	0.617																																					p.S541S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1623A	19						.	G		0,4406		0,0,2203	113.0	85.0	94.0		1623	-11.0	0.0	19		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAU2	NM_015329.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		541/614	19465238	1,13005	2203	4300	6503	19326238	SO:0001819	synonymous_variant	23383	exon17			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1623G>A	19.37:g.19465238G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19326238	NM_015329	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	CCDS32969.2																																																																																				0.617	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	
APLP1	333	broad.mit.edu	37	19	36365670	36365670	+	Missense_Mutation	SNP	C	C	T	rs200771936		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:36365670C>T	ENST00000221891.4	+	10	1435	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.R376C|APLP1_ENST00000586861.1_Missense_Mutation_p.R409C	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	415	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.R415C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCCTGCGGCGCTACCTGCG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16127	0.0		0.001	False		,,,				2504	0.0				p.R415C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1243T	19						.						58.0	42.0	47.0					19																	36365670		2203	4300	6503	41057510	SO:0001583	missense	333	exon10			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1243C>T	19.37:g.36365670C>T	ENSP00000221891:p.Arg415Cys	Somatic		Capture	Illumina HiSeq	Phase_I	41057510	NM_001024807	O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	CCDS32997.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.7	4.032834	0.75504	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.50277	0.75;0.75	4.57	3.48	0.39840	Amyloidogenic glycoprotein, E2 domain (2);	0.488989	0.16899	N	0.194967	T	0.63070	0.2480	M	0.68952	2.095	0.58432	D	0.999998	D;D;D;D	0.89917	0.995;0.991;0.999;1.0	P;P;P;D	0.65773	0.633;0.734;0.898;0.938	T	0.66508	-0.5906	10	0.87932	D	0	-7.1312	11.6892	0.51505	0.1771:0.8229:0.0:0.0	.	409;376;415;415	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	C	376;415	ENSP00000441501:R376C;ENSP00000221891:R415C	ENSP00000221891:R415C	R	+	1	0	APLP1	41057510	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	1.457000	0.35212	2.092000	0.63282	0.555000	0.69702	CGC		0.667	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807	
ZNF382	84911	broad.mit.edu	37	19	37118176	37118176	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:37118176G>A	ENST00000292928.2	+	5	1490	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	ZNF382_ENST00000423582.1_Silent_p.T410T|ZNF382_ENST00000439428.1_Silent_p.T458T|ZNF382_ENST00000435416.1_Silent_p.T458T|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	459	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T459T(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAATTCACACGGGGGAAAAAC	0.438																																					p.T459T												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G1377A	19						.						46.0	51.0	49.0					19																	37118176		2203	4300	6503	41810016	SO:0001819	synonymous_variant	84911	exon5			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1377G>A	19.37:g.37118176G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41810016	NM_032825	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	37	CCDS33004.1																																																																																				0.438	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
ZNF420	147923	broad.mit.edu	37	19	37618963	37618963	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:37618963A>G	ENST00000337995.3	+	5	1285	c.1070A>G	c.(1069-1071)cAt>cGt	p.H357R	ZNF420_ENST00000304239.7_Missense_Mutation_p.H357R|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H357R(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGGATTCATACTGGTGAA	0.418																																					p.H357R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1070G	19						.						70.0	75.0	74.0					19																	37618963		2203	4298	6501	42310803	SO:0001583	missense	147923	exon5			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1070A>G	19.37:g.37618963A>G	ENSP00000338770:p.His357Arg	Somatic		Capture	Illumina HiSeq	Phase_I	42310803	NM_144689	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233157	0.58777	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.67523	-0.27;-0.27	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79661	0.4484	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.82022	-0.0663	9	0.87932	D	0	.	10.934	0.47235	1.0:0.0:0.0:0.0	.	357	Q8TAQ5	ZN420_HUMAN	R	357	ENSP00000306102:H357R;ENSP00000338770:H357R	ENSP00000306102:H357R	H	+	2	0	ZNF420	42310803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.417000	0.90247	1.691000	0.51100	0.533000	0.62120	CAT		0.418	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
RYR1	6261	broad.mit.edu	37	19	38951142	38951142	+	Missense_Mutation	SNP	C	C	T	rs142548565		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:38951142C>T	ENST00000359596.3	+	20	2488	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	RYR1_ENST00000360985.3_Missense_Mutation_p.R830W|RYR1_ENST00000355481.4_Missense_Mutation_p.R830W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	830					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R830W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGAGTATCGACGGGAGGGGCC	0.632																																					p.R830W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2488T	19						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	68.0	73.0	71.0		2488,2488	1.9	0.9	19	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	RYR1	NM_000540.2,NM_001042723.1	101,101	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	830/5039,830/5034	38951142	4,13002	2203	4300	6503	43642982	SO:0001583	missense	6261	exon20			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2488C>T	19.37:g.38951142C>T	ENSP00000352608:p.Arg830Trp	Somatic		Capture	Illumina HiSeq	Phase_I	43642982	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866632	0.51588	0.0	4.65E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96940	-4.17;-4.18;-4.17	4.13	1.89	0.25635	.	0.091594	0.43416	U	0.000573	D	0.96583	0.8885	L	0.57536	1.79	0.26910	N	0.966923	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.96	D	0.91398	0.5141	10	0.51188	T	0.08	.	8.8285	0.35069	0.3047:0.556:0.1393:0.0	.	830;830	P21817-2;P21817	.;RYR1_HUMAN	W	830	ENSP00000352608:R830W;ENSP00000347667:R830W;ENSP00000354254:R830W	ENSP00000347667:R830W	R	+	1	2	RYR1	43642982	0.468000	0.25839	0.892000	0.35008	0.972000	0.66771	1.165000	0.31822	0.447000	0.26695	0.299000	0.19835	CGG		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
PAK4	10298	broad.mit.edu	37	19	39669069	39669069	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:39669069G>A	ENST00000593690.1	+	11	2053	c.1626G>A	c.(1624-1626)tcG>tcA	p.S542S	PAK4_ENST00000435673.2_Silent_p.S542S|PAK4_ENST00000360442.3_Silent_p.S542S|PAK4_ENST00000358301.3_Silent_p.S542S|PAK4_ENST00000599386.1_Silent_p.S389S|PAK4_ENST00000321944.4_Silent_p.S452S|PAK4_ENST00000599470.1_Silent_p.S389S	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	542	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S542S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GACAGGTGTCGCCATCCCTGA	0.677																																					p.S389S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1167A	19						.						19.0	16.0	17.0					19																	39669069		2194	4290	6484	44360909	SO:0001819	synonymous_variant	10298	exon8			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1626G>A	19.37:g.39669069G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44360909	NM_001014834	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	ENST00000593690.1	37	CCDS12528.1																																																																																				0.677	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1		
MAP3K10	4294	broad.mit.edu	37	19	40698414	40698414	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:40698414C>T	ENST00000253055.3	+	1	764	c.476C>T	c.(475-477)gCc>gTc	p.A159V	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.A159V(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AACATAATTGCCCTTAGGGGC	0.672																																					p.A159V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C476T	19						.						30.0	35.0	34.0					19																	40698414		2203	4300	6503	45390254	SO:0001583	missense	4294	exon1			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.476C>T	19.37:g.40698414C>T	ENSP00000253055:p.Ala159Val	Somatic		Capture	Illumina HiSeq	Phase_I	45390254	NM_002446	Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796857	0.90453	.	.	ENSG00000130758	ENST00000253055	D	0.93604	-3.25	4.69	4.69	0.59074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.118993	0.53938	D	0.000042	D	0.93307	0.7867	L	0.47190	1.495	0.58432	D	0.999999	B	0.27229	0.172	B	0.43155	0.41	D	0.92344	0.5884	10	0.54805	T	0.06	.	15.1536	0.72723	0.0:1.0:0.0:0.0	.	159	Q02779	M3K10_HUMAN	V	159	ENSP00000253055:A159V	ENSP00000253055:A159V	A	+	2	0	MAP3K10	45390254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.716000	0.61916	2.448000	0.82819	0.561000	0.74099	GCC		0.672	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446	
NUMBL	9253	broad.mit.edu	37	19	41186917	41186917	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:41186917G>A	ENST00000252891.4	-	6	612	c.445C>T	c.(445-447)Cct>Tct	p.P149S	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_Missense_Mutation_p.P108S|NUMBL_ENST00000540131.1_Missense_Mutation_p.P108S	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	149	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)		p.P149S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTGCGGTCAGGAGCACAAAAG	0.552																																					p.P149S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445T	19						.						145.0	134.0	138.0					19																	41186917		2203	4300	6503	45878757	SO:0001583	missense	9253	exon6			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.445C>T	19.37:g.41186917G>A	ENSP00000252891:p.Pro149Ser	Somatic		Capture	Illumina HiSeq	Phase_I	45878757	NM_004756	Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961146	0.92791	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.18657	2.2;2.2	4.59	4.59	0.56863	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.062225	0.64402	D	0.000004	T	0.46444	0.1393	M	0.84082	2.675	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.58820	0.846;0.846	T	0.55939	-0.8061	10	0.87932	D	0	-7.0781	16.5701	0.84609	0.0:0.0:1.0:0.0	.	149;149	A8K033;Q9Y6R0	.;NUMBL_HUMAN	S	149;108	ENSP00000252891:P149S;ENSP00000442759:P108S	ENSP00000252891:P149S	P	-	1	0	NUMBL	45878757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.423000	0.97461	2.278000	0.76064	0.655000	0.94253	CCT		0.552	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756	
HNRNPUL1	11100	broad.mit.edu	37	19	41811655	41811655	+	Silent	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:41811655A>T	ENST00000392006.3	+	14	2510	c.2337A>T	c.(2335-2337)ccA>ccT	p.P779P	HNRNPUL1_ENST00000595018.1_Silent_p.P679P|HNRNPUL1_ENST00000378215.4_Silent_p.P675P|HNRNPUL1_ENST00000263367.3_Silent_p.P690P|HNRNPUL1_ENST00000593587.1_Silent_p.P679P|HNRNPUL1_ENST00000352456.3_Silent_p.P689P|HNRNPUL1_ENST00000602130.1_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	779	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P779P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCCACCTCCACCACCACCTG	0.622																																					p.P679P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2037T	19						.						93.0	90.0	91.0					19																	41811655		2203	4300	6503	46503495	SO:0001819	synonymous_variant	11100	exon14			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2337A>T	19.37:g.41811655A>T		Somatic		Capture	Illumina HiSeq	Phase_I	46503495	NM_144732	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Silent	SNP	ENST00000392006.3	37	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.377257	0.24944	.	.	ENSG00000105323	ENST00000270069	.	.	.	4.67	-8.2	0.01045	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58983	-0.7539	5	0.14656	T	0.56	-7.5055	17.6741	0.88225	0.3149:0.0:0.6851:0.0	.	.	.	.	S	89	.	ENSP00000270069:T89S	T	+	1	0	HNRNPUL1	46503495	0.071000	0.21146	0.694000	0.30210	0.986000	0.74619	-1.471000	0.02344	-1.933000	0.01052	-0.425000	0.05940	ACC		0.622	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040	
MEGF8	1954	broad.mit.edu	37	19	42839287	42839287	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:42839287C>A	ENST00000251268.6	+	4	659	c.659C>A	c.(658-660)gCc>gAc	p.A220D	MEGF8_ENST00000334370.4_Missense_Mutation_p.A220D	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	220					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.A220D(2)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AACGTGAGTGCCAGGGACCCT	0.657																																					p.A220D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C659A	19						.						32.0	39.0	37.0					19																	42839287		2040	4171	6211	47531127	SO:0001583	missense	1954	exon4			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.659C>A	19.37:g.42839287C>A	ENSP00000251268:p.Ala220Asp	Somatic		Capture	Illumina HiSeq	Phase_I	47531127	NM_001410	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	C	13.44	2.237498	0.39498	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21361	2.01;2.01	5.27	4.22	0.49857	.	.	.	.	.	T	0.09335	0.0230	N	0.03608	-0.345	0.80722	D	1	P	0.41450	0.75	B	0.41917	0.37	T	0.14254	-1.0479	9	0.06891	T	0.86	.	11.8385	0.52340	0.0:0.8231:0.1769:0.0	.	220	Q7Z7M0-2	.	D	220	ENSP00000334219:A220D;ENSP00000251268:A220D	ENSP00000251268:A220D	A	+	2	0	MEGF8	47531127	0.901000	0.30685	0.988000	0.46212	0.633000	0.38033	2.146000	0.42216	1.206000	0.43276	-0.508000	0.04489	GCC		0.657	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
BCL3	602	broad.mit.edu	37	19	45262794	45262794	+	Silent	SNP	C	C	T	rs200468364		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:45262794C>T	ENST00000164227.5	+	9	1531	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	429	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P421P(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CATCTCCACCCGCCTTCCTGC	0.682			T	IGH@	CLL																																p.P429P			Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C1287T	19						.	C		2,4404	4.2+/-10.8	0,2,2201	97.0	108.0	104.0		1287	-9.0	0.5	19		104	0,8600		0,0,4300	no	coding-synonymous	BCL3	NM_005178.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		429/455	45262794	2,13004	2203	4300	6503	49954634	SO:0001819	synonymous_variant	602	exon9			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1287C>T	19.37:g.45262794C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49954634	NM_005178		Silent	SNP	ENST00000164227.5	37	CCDS12642.2																																																																																				0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178	
FOXA3	3171	broad.mit.edu	37	19	46375960	46375960	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:46375960G>A	ENST00000302177.2	+	2	894	c.697G>A	c.(697-699)Ggg>Agg	p.G233R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	233					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G233R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CACCAGGAACGGGACAGGGTC	0.682																																					p.G233R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	19						.						7.0	9.0	8.0					19																	46375960		2158	4242	6400	51067800	SO:0001583	missense	3171	exon2			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.697G>A	19.37:g.46375960G>A	ENSP00000304004:p.Gly233Arg	Somatic		Capture	Illumina HiSeq	Phase_I	51067800	NM_004497	A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	9.592	1.126447	0.20959	.	.	ENSG00000170608	ENST00000302177	D	0.92099	-2.97	3.87	-2.72	0.05968	.	1.634850	0.03781	N	0.261343	T	0.81158	0.4764	N	0.08118	0	0.09310	N	0.999996	B	0.31351	0.32	B	0.24155	0.051	T	0.71104	-0.4689	10	0.29301	T	0.29	.	9.084	0.36570	0.5979:0.0:0.4021:0.0	.	233	P55318	FOXA3_HUMAN	R	233	ENSP00000304004:G233R	ENSP00000304004:G233R	G	+	1	0	FOXA3	51067800	0.000000	0.05858	0.008000	0.14137	0.305000	0.27757	-0.065000	0.11617	-0.580000	0.05944	0.453000	0.30009	GGG		0.682	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1		
PNMAL1	55228	broad.mit.edu	37	19	46973217	46973217	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:46973217G>A	ENST00000313683.10	-	2	1381	c.1076C>T	c.(1075-1077)gCt>gTt	p.A359V	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.A359V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	359								p.A359V(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCTCATGGGAGCGGGGTTCTT	0.582																																					p.A359V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1076T	19						.						130.0	140.0	137.0					19																	46973217		2203	4300	6503	51665057	SO:0001583	missense	55228	exon2			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1076C>T	19.37:g.46973217G>A	ENSP00000318131:p.Ala359Val	Somatic		Capture	Illumina HiSeq	Phase_I	51665057	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175935	0.38413	.	.	ENSG00000182013	ENST00000438932;ENST00000313683	T;T	0.09817	2.94;2.94	3.44	-3.29	0.05017	.	0.893166	0.09262	N	0.826340	T	0.06462	0.0166	N	0.20986	0.625	0.09310	N	1	B;B	0.21753	0.06;0.06	B;B	0.20767	0.031;0.031	T	0.39210	-0.9625	10	0.49607	T	0.09	-14.7719	6.0294	0.19671	0.1793:0.4751:0.3456:0.0	.	359;359	Q86V59-2;Q86V59	.;PNML1_HUMAN	V	359	ENSP00000410273:A359V;ENSP00000318131:A359V	ENSP00000318131:A359V	A	-	2	0	PNMAL1	51665057	0.000000	0.05858	0.000000	0.03702	0.467000	0.32768	-1.327000	0.02682	-0.484000	0.06763	0.644000	0.83932	GCT		0.582	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215	
STRN4	29888	broad.mit.edu	37	19	47225519	47225519	+	Missense_Mutation	SNP	C	C	T	rs560915215		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:47225519C>T	ENST00000263280.6	-	15	2034	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000391910.3_Missense_Mutation_p.R669H|STRN4_ENST00000539396.1_Missense_Mutation_p.R543H	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	662						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.R662H(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTCCAGGAAGCGGATGCCCCT	0.607																																					p.R669H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2006A	19						.						132.0	112.0	119.0					19																	47225519		2203	4300	6503	51917359	SO:0001583	missense	29888	exon15			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1985G>A	19.37:g.47225519C>T	ENSP00000263280:p.Arg662His	Somatic		Capture	Illumina HiSeq	Phase_I	51917359	NM_001039877	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985218	0.93044	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	D;D;D	0.82984	-1.67;-1.67;-1.67	5.69	4.65	0.58169	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	0.90150	0.6922	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.72338	0.977;0.818	D	0.90648	0.4580	10	0.87932	D	0	-28.9748	9.6704	0.40008	0.0:0.8395:0.0:0.1605	.	669;662	F8VYA6;Q9NRL3	.;STRN4_HUMAN	H	669;662;543	ENSP00000375777:R669H;ENSP00000263280:R662H;ENSP00000440901:R543H	ENSP00000263280:R662H	R	-	2	0	STRN4	51917359	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.927000	0.48900	1.403000	0.46800	0.561000	0.74099	CGC		0.607	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2		
CTU1	90353	broad.mit.edu	37	19	51602386	51602386	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:51602386G>A	ENST00000421832.2	-	3	563	c.519C>T	c.(517-519)gcC>gcT	p.A173A		NM_145232.3	NP_660275.2			cytosolic thiouridylase subunit 1									p.A173A(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4						CCATGTCGTCGGCGTTGTGAC	0.756																																					p.A173A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C519T	19						.						7.0	9.0	8.0					19																	51602386		1953	3822	5775	56294198	SO:0001819	synonymous_variant	90353	exon3				CCDS12824.1	19q13.41	2013-05-31	2013-05-31	2009-08-19		ENSG00000142544			29590	protein-coding gene	gene with protein product		612694	"""ATP binding domain 3"", ""cytosolic thiouridylase subunit 1 homolog (S. pombe)"""	ATPBD3		19017811	Standard	NM_145232		Approved	MGC17332, NCS6	uc010eop.3	Q7Z7A3		ENST00000421832.2:c.519C>T	19.37:g.51602386G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56294198	NM_145232		Silent	SNP	ENST00000421832.2	37	CCDS12824.1																																																																																				0.756	CTU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464292.1	NM_145232	
HAS1	3036	broad.mit.edu	37	19	52220414	52220414	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:52220414C>A	ENST00000222115.1	-	3	769	c.735G>T	c.(733-735)atG>atT	p.M245I	HAS1_ENST00000601714.1_Missense_Mutation_p.M252I|HAS1_ENST00000540069.2_Missense_Mutation_p.M244I|HAS1_ENST00000594621.1_Missense_Mutation_p.M99I	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	245					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.M245I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGCAGTGCCATGGGGTCCA	0.617																																					p.M245I	NSCLC(132;636 2450 45807 47979)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G735T	19						.						59.0	57.0	57.0					19																	52220414		2203	4300	6503	56912226	SO:0001583	missense	3036	exon3			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.735G>T	19.37:g.52220414C>A	ENSP00000222115:p.Met245Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56912226	NM_001523	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	13.90	2.375483	0.42105	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.58940	0.3;0.3	4.32	4.32	0.51571	.	0.198925	0.41194	U	0.000938	T	0.53384	0.1793	L	0.44542	1.39	0.36707	D	0.88045	B;B;B	0.29805	0.115;0.257;0.257	B;B;B	0.36030	0.138;0.216;0.216	T	0.60944	-0.7162	10	0.37606	T	0.19	-25.4959	14.7413	0.69458	0.0:1.0:0.0:0.0	.	244;245;244	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	I	244;245;102;99	ENSP00000445021:M244I;ENSP00000222115:M245I	ENSP00000222115:M245I	M	-	3	0	HAS1	56912226	0.831000	0.29352	1.000000	0.80357	0.955000	0.61496	1.461000	0.35255	2.133000	0.65898	0.489000	0.48404	ATG		0.617	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523	
ZNF578	147660	broad.mit.edu	37	19	53014467	53014467	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:53014467G>A	ENST00000421239.2	+	6	1077	c.833G>A	c.(832-834)cGt>cAt	p.R278H	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	278					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.R278H(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCACGCCATCGTAGATGTCAC	0.378																																					p.R278H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833A	19						.						118.0	122.0	120.0					19																	53014467		2203	4299	6502	57706279	SO:0001583	missense	147660	exon6			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.833G>A	19.37:g.53014467G>A	ENSP00000459216:p.Arg278His	Somatic		Capture	Illumina HiSeq	Phase_I	57706279	NM_001099694	B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	2.736	-0.263253	0.05754	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.3	-2.59	0.06209	.	.	.	.	.	T	0.27384	0.0672	L	0.41824	1.3	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.19976	-1.0289	7	.	.	.	.	5.7507	0.18144	0.6948:0.0:0.3052:0.0	.	278	G3V4F6	.	H	278	.	.	R	+	2	0	ZNF578	57706279	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	-0.067000	0.11579	-0.934000	0.03733	-0.734000	0.03567	CGT		0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
ZNF611	81856	broad.mit.edu	37	19	53209130	53209130	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:53209130G>A	ENST00000319783.1	-	7	1494	c.1178C>T	c.(1177-1179)aCt>aTt	p.T393I	ZNF611_ENST00000595798.1_Missense_Mutation_p.T324I|ZNF611_ENST00000540744.1_Missense_Mutation_p.T393I|ZNF611_ENST00000453741.2_Missense_Mutation_p.T324I|ZNF611_ENST00000543227.1_Missense_Mutation_p.T393I|ZNF611_ENST00000602162.1_Missense_Mutation_p.T324I|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T393I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTTCTCTCCAGTATGAATTCT	0.378																																					p.T324I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971T	19						.						63.0	63.0	63.0					19																	53209130		2203	4300	6503	57900942	SO:0001583	missense	81856	exon5			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1178C>T	19.37:g.53209130G>A	ENSP00000322427:p.Thr393Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57900942	NM_001161501	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	14.63	2.593544	0.46214	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	1.62	0.387	0.16259	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47192	0.1432	M	0.78637	2.42	0.24208	N	0.995486	D	0.89917	1.0	D	0.81914	0.995	T	0.28106	-1.0054	9	0.87932	D	0	.	8.4401	0.32810	0.0:0.2453:0.7546:0.0	.	393	Q8N823	ZN611_HUMAN	I	393;393;324;393	ENSP00000437616:T393I;ENSP00000439211:T393I;ENSP00000443505:T324I;ENSP00000322427:T393I	ENSP00000322427:T393I	T	-	2	0	ZNF611	57900942	0.995000	0.38212	0.008000	0.14137	0.163000	0.22366	2.245000	0.43133	0.003000	0.14656	0.194000	0.17425	ACT		0.378	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
LENG8	114823	broad.mit.edu	37	19	54969523	54969523	+	Missense_Mutation	SNP	G	G	A	rs139078013		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:54969523G>A	ENST00000326764.5	+	15	2542	c.2063G>A	c.(2062-2064)cGa>cAa	p.R688Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	651								p.R688Q(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TACCTCACACGAGAACTGAAG	0.587																																					p.R688Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2063A	19						.						127.0	97.0	107.0					19																	54969523		2203	4300	6503	59661335	SO:0001583	missense	114823	exon15			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.2063G>A	19.37:g.54969523G>A	ENSP00000318374:p.Arg688Gln	Somatic		Capture	Illumina HiSeq	Phase_I	59661335	NM_052925	B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820677	0.50633	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.30448	1.53;1.53;1.53	5.35	4.31	0.51392	.	0.171277	0.41396	D	0.000895	T	0.16811	0.0404	L	0.28344	0.845	0.80722	D	1	B;B	0.29253	0.239;0.104	B;B	0.22601	0.04;0.009	T	0.06356	-1.0831	10	0.17832	T	0.49	-38.5539	7.5118	0.27577	0.1785:0.0:0.8215:0.0	.	688;651	Q96PV6-2;F8W9Q9	.;.	Q	688;651;651;688	ENSP00000318374:R688Q;ENSP00000365709:R651Q;ENSP00000388053:R688Q	ENSP00000301196:R651Q	R	+	2	0	LENG8	59661335	0.998000	0.40836	0.965000	0.40720	0.857000	0.48899	3.001000	0.49488	2.684000	0.91462	0.555000	0.69702	CGA		0.587	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	
BRSK1	84446	broad.mit.edu	37	19	55815160	55815160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:55815160C>T	ENST00000309383.1	+	12	1529	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	BRSK1_ENST00000326848.7_Nonsense_Mutation_p.R113*|BRSK1_ENST00000590333.1_Nonsense_Mutation_p.R434*	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	418					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R418*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGTACCCACCCGACGGGCCTT	0.637																																					p.R418X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1252T	19						.						39.0	44.0	42.0					19																	55815160		2203	4300	6503	60506972	SO:0001587	stop_gained	84446	exon12			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1252C>T	19.37:g.55815160C>T	ENSP00000310649:p.Arg418*	Somatic		Capture	Illumina HiSeq	Phase_I	60506972	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Nonsense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	38	7.098414	0.98063	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	.	.	.	3.86	2.78	0.32641	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4418	0.50100	0.189:0.811:0.0:0.0	.	.	.	.	X	418;113;113	.	ENSP00000310649:R418X	R	+	1	2	BRSK1	60506972	0.989000	0.36119	0.977000	0.42913	0.996000	0.88848	2.788000	0.47806	0.917000	0.36895	0.561000	0.74099	CGA		0.637	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
CCDC106	29903	broad.mit.edu	37	19	56160609	56160609	+	Missense_Mutation	SNP	G	G	A	rs367901327		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:56160609G>A	ENST00000586790.1	+	2	974	c.70G>A	c.(70-72)Gat>Aat	p.D24N	CCDC106_ENST00000591578.1_Missense_Mutation_p.D24N|CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.D24N|CCDC106_ENST00000308964.3_Missense_Mutation_p.D24N			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	24						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D24N(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CATTCCCTTCGATGAGGCACC	0.602																																					p.D24N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70A	19						.						118.0	117.0	117.0					19																	56160609		2203	4300	6503	60852421	SO:0001583	missense	29903	exon3			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.70G>A	19.37:g.56160609G>A	ENSP00000465757:p.Asp24Asn	Somatic		Capture	Illumina HiSeq	Phase_I	60852421	NM_013301	B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150519	0.37923	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.5	2.46	0.29980	.	0.363756	0.25765	N	0.028457	T	0.32010	0.0815	N	0.19112	0.55	0.43168	D	0.994961	B	0.02656	0.0	B	0.04013	0.001	T	0.21965	-1.0230	9	0.46703	T	0.11	-15.938	6.0602	0.19835	0.1409:0.0:0.8591:0.0	.	24	Q9BWC9	CC106_HUMAN	N	24	.	ENSP00000309681:D24N	D	+	1	0	CCDC106	60852421	0.999000	0.42202	0.372000	0.25991	0.731000	0.41821	4.745000	0.62125	1.981000	0.57761	0.561000	0.74099	GAT		0.602	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301	
ZNF470	388566	broad.mit.edu	37	19	57088951	57088951	+	Missense_Mutation	SNP	G	G	C	rs141373983	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:57088951G>C	ENST00000330619.8	+	6	1840	c.1154G>C	c.(1153-1155)cGt>cCt	p.R385P	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R385P	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R385H(1)|p.R385P(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCTCTTATACGTCATCGGCGA	0.418																																					p.R385P												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G1154C	19						.						94.0	87.0	90.0					19																	57088951		2203	4300	6503	61780763	SO:0001583	missense	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1154G>C	19.37:g.57088951G>C	ENSP00000333223:p.Arg385Pro	Somatic		Capture	Illumina HiSeq	Phase_I	61780763	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	-	7.585	0.669570	0.14776	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.26810	1.71;1.71	4.17	0.555	0.17247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	L	0.54965	1.715	0.09310	N	1	D	0.56287	0.975	P	0.53722	0.733	T	0.14172	-1.0482	9	0.33141	T	0.24	.	3.6782	0.08299	0.1002:0.1658:0.5639:0.1701	.	385	Q6ECI4	ZN470_HUMAN	P	385	ENSP00000375590:R385P;ENSP00000333223:R385P	ENSP00000333223:R385P	R	+	2	0	ZNF470	61780763	0.000000	0.05858	0.510000	0.27712	0.064000	0.16182	-0.779000	0.04659	0.929000	0.37192	0.590000	0.80494	CGT		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ABCA7	10347	broad.mit.edu	37	19	1057947	1057949	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	CTT	CTT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:1057947_1057949delCTT	ENST00000263094.6	+	36	5145_5147	c.4914_4916delCTT	c.(4912-4917)tccttc>tcc	p.F1641del	ABCA7_ENST00000433129.1_In_Frame_Del_p.F1641del|ABCA7_ENST00000435683.2_In_Frame_Del_p.F1503del	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1641					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.F1641delF(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCAGCCTCCTTCTTCTTCTCC	0.507																																					p.1638_1639del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.4914_4916del	19						.			17,4243		8,1,2121						4.1	1.0			157	2,8246		1,0,4123	no	coding	ABCA7	NM_019112.3		9,1,6244	A1A1,A1R,RR		0.0242,0.3991,0.1519				19,12489				1008949	SO:0001651	inframe_deletion	10347	exon36			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4914_4916delCTT	19.37:g.1057953_1057955delCTT	ENSP00000263094:p.Phe1641del	Somatic		Capture	Illumina HiSeq	Phase_I	1008947	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	In_Frame_Del	DEL	ENST00000263094.6	37	CCDS12055.1																																																																																				0.507	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
TLE2	7089	broad.mit.edu	37	19	3011087	3011087	+	Frame_Shift_Del	DEL	G	G	-	rs374345530		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:3011087delG	ENST00000262953.6	-	12	1207	c.945delC	c.(943-945)cccfs	p.P315fs	TLE2_ENST00000590536.1_Frame_Shift_Del_p.P316fs|TLE2_ENST00000426948.2_Frame_Shift_Del_p.P329fs|TLE2_ENST00000447365.2_Frame_Shift_Del_p.P24fs|TLE2_ENST00000587217.1_5'Flank|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Frame_Shift_Del_p.P193fs|TLE2_ENST00000591529.1_Frame_Shift_Del_p.P329fs|TLE2_ENST00000455444.2_Frame_Shift_Del_p.P193fs	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	315	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.S318fs*22(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		AGCTGGGCCCGGGGGTGGAAG	0.647																																					p.P193fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.579delC	19						.						18.0	24.0	22.0					19																	3011087		2052	4203	6255	2962087	SO:0001589	frameshift_variant	7089	exon10			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.945delC	19.37:g.3011087delG	ENSP00000262953:p.Pro315fs	Somatic		Capture	Illumina HiSeq	Phase_I	2962087	NM_001144762	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Frame_Shift_Del	DEL	ENST00000262953.6	37	CCDS45911.1																																																																																				0.647	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	
CLPP	8192	broad.mit.edu	37	19	6361602	6361602	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:6361602T>A	ENST00000245816.4	+	1	140	c.17T>A	c.(16-18)tTg>tAg	p.L6*	CLPP_ENST00000596605.1_5'Flank|CLPP_ENST00000596149.1_5'Flank|CTB-180A7.3_ENST00000595644.1_RNA	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	6					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.L6*(1)		endometrium(2)|large_intestine(2)|ovary(2)	6						CCCGGAATATTGGTAGGGGGG	0.711																																					p.L6X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T17A	19						.						8.0	9.0	9.0					19																	6361602		2115	4166	6281	6312602	SO:0001587	stop_gained	8192	exon1			Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"""ATPases / AAA-type"""	2084	protein-coding gene	gene with protein product	"""ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"""	601119	"""ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog"", ""ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)"", ""ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"""			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.17T>A	19.37:g.6361602T>A	ENSP00000245816:p.Leu6*	Somatic		Capture	Illumina HiSeq	Phase_I	6312602	NM_006012	B2R4W5	Nonsense_Mutation	SNP	ENST00000245816.4	37	CCDS12162.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679073	0.88542	.	.	ENSG00000125656	ENST00000245816	.	.	.	4.03	1.59	0.23543	.	0.000000	0.27076	N	0.021042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9275	8.602	0.33751	0.0:0.0:0.3746:0.6254	.	.	.	.	X	6	.	ENSP00000245816:L6X	L	+	2	0	CLPP	6312602	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.653000	0.24902	0.496000	0.27904	0.254000	0.18369	TTG		0.711	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452984.1	NM_006012	
C3	718	broad.mit.edu	37	19	6694575	6694575	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:6694575delG	ENST00000245907.6	-	24	3113	c.3021delC	c.(3019-3021)cccfs	p.P1007fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1007					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.S1008fs*8(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGCAGCCCGAGGGGGTCACAA	0.607																																					p.P1007fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3021delC	19						.						98.0	79.0	85.0					19																	6694575		2203	4300	6503	6645575	SO:0001589	frameshift_variant	718	exon24			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3021delC	19.37:g.6694575delG	ENSP00000245907:p.Pro1007fs	Somatic		Capture	Illumina HiSeq	Phase_I	6645575	NM_000064	A7E236	Frame_Shift_Del	DEL	ENST00000245907.6	37	CCDS32883.1																																																																																				0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
VAV1	7409	broad.mit.edu	37	19	6773006	6773006	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:6773006G>A	ENST00000602142.1	+	1	270	c.188G>A	c.(187-189)cGc>cAc	p.R63H	VAV1_ENST00000304076.2_Missense_Mutation_p.R63H|VAV1_ENST00000539284.1_5'UTR|VAV1_ENST00000596764.1_Missense_Mutation_p.R63H	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	63	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R63H(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTCAACCTGCGCCCCCAGATG	0.652																																					p.R63H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	19						.						111.0	86.0	94.0					19																	6773006		2203	4300	6503	6724006	SO:0001583	missense	7409	exon1				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.188G>A	19.37:g.6773006G>A	ENSP00000472929:p.Arg63His	Somatic		Capture	Illumina HiSeq	Phase_I	6724006	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.951070	0.73787	.	.	ENSG00000141968	ENST00000304076	T	0.63096	-0.02	4.32	4.32	0.51571	Calponin homology domain (5);	0.091656	0.43416	U	0.000576	T	0.71178	0.3309	M	0.62209	1.925	0.80722	D	1	B;P	0.48640	0.45;0.913	P;P	0.55965	0.486;0.788	T	0.72304	-0.4333	10	0.42905	T	0.14	.	14.3169	0.66457	0.0:0.0:1.0:0.0	.	63;63	B2R8B5;P15498	.;VAV_HUMAN	H	63	ENSP00000302269:R63H	ENSP00000302269:R63H	R	+	2	0	VAV1	6724006	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	9.006000	0.93592	1.953000	0.56701	0.306000	0.20318	CGC		0.652	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
MUC16	94025	broad.mit.edu	37	19	9005698	9005698	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:9005698G>A	ENST00000397910.4	-	46	39911	c.39708C>T	c.(39706-39708)gaC>gaT	p.D13236D	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13238	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D388D(1)|p.D13236D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGATGGCGTCCACTCTGG	0.572																																					p.D13236D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C39708T	19						.						78.0	75.0	76.0					19																	9005698		2058	4184	6242	8866698	SO:0001819	synonymous_variant	94025	exon46			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39708C>T	19.37:g.9005698G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8866698	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.533	-0.308043	0.05458	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.51	-7.02	0.01589	.	.	.	.	.	T	0.49218	0.1544	.	.	.	.	.	.	.	.	.	.	.	.	T	0.57751	-0.7757	3	.	.	.	-11.1203	15.4794	0.75514	0.3131:0.0:0.6869:0.0	.	.	.	.	M	76	.	.	T	-	2	0	MUC16	8866698	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.269000	0.00532	-3.097000	0.00245	-3.376000	0.00041	ACG		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9018507	9018507	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:9018507T>G	ENST00000397910.4	-	24	37870	c.37667A>C	c.(37666-37668)aAg>aCg	p.K12556T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12558	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.K12556T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCTCATACTTCAGGTTGGT	0.512																																					p.K12556T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A37667C	19						.						236.0	199.0	211.0					19																	9018507		1980	4180	6160	8879507	SO:0001583	missense	94025	exon24			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37667A>C	19.37:g.9018507T>G	ENSP00000381008:p.Lys12556Thr	Somatic		Capture	Illumina HiSeq	Phase_I	8879507	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.143	0.582224	0.13749	.	.	ENSG00000181143	ENST00000397910	T	0.28895	1.59	2.01	-2.06	0.07298	.	.	.	.	.	T	0.08044	0.0201	N	0.02011	-0.69	.	.	.	P	0.34977	0.478	B	0.22753	0.041	T	0.17592	-1.0364	8	0.87932	D	0	.	2.1758	0.03862	0.4728:0.166:0.0:0.3612	.	12556	B5ME49	.	T	12556	ENSP00000381008:K12556T	ENSP00000381008:K12556T	K	-	2	0	MUC16	8879507	0.000000	0.05858	0.001000	0.08648	0.330000	0.28571	-4.341000	0.00250	-0.668000	0.05296	0.164000	0.16699	AAG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9058926	9058926	+	Missense_Mutation	SNP	G	G	A	rs370765065		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:9058926G>A	ENST00000397910.4	-	3	28723	c.28520C>T	c.(28519-28521)aCg>aTg	p.T9507M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9509	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T9507M(1)|p.T5140M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGTCTCCGTGGTGGCTTT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21270	0.0		0.0	False		,,,				2504	0.0				p.T9507M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C28520T	19						.	G	MET/THR	0,3982		0,0,1991	159.0	155.0	156.0		28520	-1.5	0.0	19	dbSNP_134	156	2,8336		0,2,4167	no	missense	MUC16	NM_024690.2	81	0,2,6158	AA,AG,GG		0.024,0.0,0.0162	benign	9507/14508	9058926	2,12318	1991	4169	6160	8919926	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28520C>T	19.37:g.9058926G>A	ENSP00000381008:p.Thr9507Met	Somatic		Capture	Illumina HiSeq	Phase_I	8919926	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.248	-0.153794	0.06585	0.0	2.4E-4	ENSG00000181143	ENST00000397910	T	0.28895	1.59	2.29	-1.47	0.08772	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	.	.	.	B	0.18461	0.028	B	0.14578	0.011	T	0.19289	-1.0310	8	0.87932	D	0	.	4.3757	0.11269	0.1576:0.0:0.6153:0.2271	.	9507	B5ME49	.	M	9507	ENSP00000381008:T9507M	ENSP00000381008:T9507M	T	-	2	0	MUC16	8919926	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.421000	0.07053	-0.242000	0.09667	-0.778000	0.03378	ACG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF317	57693	broad.mit.edu	37	19	9271878	9271878	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:9271878G>A	ENST00000247956.6	+	7	1862	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	ZNF317_ENST00000360385.3_Silent_p.T487T	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T519T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CGCTGAAGACGCACATGCGAA	0.547																																					p.T487T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1461A	19						.						88.0	73.0	78.0					19																	9271878		2203	4300	6503	9132878	SO:0001819	synonymous_variant	57693	exon6			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1557G>A	19.37:g.9271878G>A		Somatic		Capture	Illumina HiSeq	Phase_I	9132878	NM_001190791	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	CCDS12210.1																																																																																				0.547	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
OR7C1	26664	broad.mit.edu	37	19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:14910414delA	ENST00000248073.2	-	1	609	c.535delT	c.(535-537)tgtfs	p.C179fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	179					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGTAGATCACAAAAAAAGTGT	0.478																																					p.C179fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.535delT	19						.						107.0	108.0	108.0					19																	14910414		2203	4300	6503	14771414	SO:0001589	frameshift_variant	26664	exon1			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.535delT	19.37:g.14910414delA	ENSP00000248073:p.Cys179fs	Somatic		Capture	Illumina HiSeq	Phase_I	14771414	NM_198944	Q15621|Q6IFP2|Q96R94	Frame_Shift_Del	DEL	ENST00000248073.2	37	CCDS12317.1																																																																																				0.478	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1		
ZNF676	163223	broad.mit.edu	37	19	22364323	22364323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:22364323delT	ENST00000397121.2	-	3	513	c.196delA	c.(196-198)atgfs	p.M66fs		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					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.M66fs*1(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTCAATATCATTTTTTGGAAA	0.303																																					p.M66X												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.196delA	19						.						58.0	53.0	54.0					19																	22364323		1890	4153	6043	22156163	SO:0001589	frameshift_variant	163223	exon3			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.196delA	19.37:g.22364323delT	ENSP00000380310:p.Met66fs	Somatic		Capture	Illumina HiSeq	Phase_I	22156163	NM_001001411	A8MVX5	Frame_Shift_Del	DEL	ENST00000397121.2	37	CCDS42539.1																																																																																				0.303	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
FAM187B	148109	broad.mit.edu	37	19	35716084	35716084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:35716084delG	ENST00000324675.3	-	2	802	c.754delC	c.(754-756)ctgfs	p.L252fs		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	252						integral component of membrane (GO:0016021)		p.L252fs*1(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TCCCACGTCAGGGGGGTGTCG	0.657																																					p.L252X												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.754delC	19						.						11.0	11.0	11.0					19																	35716084		2187	4279	6466	40407924	SO:0001589	frameshift_variant	148109	exon2			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.754delC	19.37:g.35716084delG	ENSP00000323355:p.Leu252fs	Somatic		Capture	Illumina HiSeq	Phase_I	40407924	NM_152481	Q8N7G6	Frame_Shift_Del	DEL	ENST00000324675.3	37	CCDS12448.1																																																																																				0.657	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481	
PSG3	5671	broad.mit.edu	37	19	43244517	43244517	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:43244517delG	ENST00000327495.5	-	1	204	c.20delC	c.(19-21)cctfs	p.P8fs	PSG3_ENST00000595140.1_Frame_Shift_Del_p.P8fs|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	8					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P7fs*19(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGTGCAGGGAGGGGCTGAGAG	0.607																																					p.P7fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.20delC	19						.						143.0	155.0	150.0					19																	43244517		1511	2709	4220	47936357	SO:0001589	frameshift_variant	5671	exon1				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.20delC	19.37:g.43244517delG	ENSP00000332215:p.Pro8fs	Somatic		Capture	Illumina HiSeq	Phase_I	47936357	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Frame_Shift_Del	DEL	ENST00000327495.5	37	CCDS12611.1																																																																																				0.607	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016	
ERCC2	2068	broad.mit.edu	37	19	45873426	45873428	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	AGG	AGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:45873426_45873428delAGG	ENST00000391945.4	-	2	145_147	c.68_70delCCT	c.(67-72)tcctac>tac	p.S23del	ERCC2_ENST00000391940.4_5'UTR|ERCC2_ENST00000391944.3_In_Frame_Del_p.S23del|ERCC2_ENST00000221481.6_In_Frame_Del_p.S23del|ERCC2_ENST00000485403.2_5'UTR	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	23	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.S23delS(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCCCGCATGTAGGAGAACTGCTC	0.68			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.23_24del		yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	.	.	1	Deletion - In frame(1)	large_intestine(1)	c.68_70del	19						.																																			50565268	SO:0001651	inframe_deletion	2068	exon2	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.68_70delCCT	19.37:g.45873426_45873428delAGG	ENSP00000375809:p.Ser23del	Somatic		Capture	Illumina HiSeq	Phase_I	50565266	NM_000400	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	In_Frame_Del	DEL	ENST00000391945.4	37	CCDS33049.1																																																																																				0.680	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400	
CCDC9	26093	broad.mit.edu	37	19	47774706	47774706	+	Frame_Shift_Del	DEL	C	C	-	rs35119724	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:47774706delC	ENST00000221922.6	+	12	1589	c.1367delC	c.(1366-1368)gccfs	p.A456fs		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	456			A -> V (in dbSNP:rs35119724).				poly(A) RNA binding (GO:0044822)	p.T458fs*51(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAGAGGCTGCCCCCACCGGG	0.647																																					p.A456fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1367delC	19						.						88.0	90.0	90.0					19																	47774706		2203	4300	6503	52466546	SO:0001589	frameshift_variant	26093	exon12			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1367delC	19.37:g.47774706delC	ENSP00000221922:p.Ala456fs	Somatic		Capture	Illumina HiSeq	Phase_I	52466546	NM_015603		Frame_Shift_Del	DEL	ENST00000221922.6	37	CCDS12698.1																																																																																				0.647	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603	
GLTSCR1	29998	broad.mit.edu	37	19	48197568	48197568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:48197568delC	ENST00000396720.3	+	8	2674	c.2480delC	c.(2479-2481)gccfs	p.A827fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	827								p.P829fs*13(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCACCCCAGGCCCCCCCAACT	0.721																																					p.A827fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2480delC	19						.						3.0	3.0	3.0					19																	48197568		1482	3492	4974	52889380	SO:0001589	frameshift_variant	29998	exon8			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2480delC	19.37:g.48197568delC	ENSP00000379946:p.Ala827fs	Somatic		Capture	Illumina HiSeq	Phase_I	52889380	NM_015711	A8MW01	Frame_Shift_Del	DEL	ENST00000396720.3	37	CCDS46134.1																																																																																				0.721	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711	
TBC1D17	79735	broad.mit.edu	37	19	50385607	50385607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:50385607delC	ENST00000221543.5	+	7	1047	c.748delC	c.(748-750)cccfs	p.P253fs	TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.P220fs	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	253	Required for interaction with OPTN.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)	p.P251fs*52(1)		NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTCCGACCTTCCCCCGCCACC	0.627																																					p.P217fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.649delC	19						.						83.0	81.0	82.0					19																	50385607		2203	4300	6503	55077419	SO:0001589	frameshift_variant	79735	exon6			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.748delC	19.37:g.50385607delC	ENSP00000221543:p.Pro253fs	Somatic		Capture	Illumina HiSeq	Phase_I	55077419	NM_001168222	B4DT12|B9A6L8|F5H1W7	Frame_Shift_Del	DEL	ENST00000221543.5	37	CCDS12785.1																																																																																				0.627	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682	
EPN1	29924	broad.mit.edu	37	19	56203184	56203184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:56203184delG	ENST00000270460.6	+	7	1138	c.827delG	c.(826-828)tggfs	p.W276fs	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000085079.7_Frame_Shift_Del_p.W251fs|EPN1_ENST00000411543.2_Frame_Shift_Del_p.W362fs	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	276	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G364fs*164(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACAGACCCCTGGGGGGGCCCA	0.692																																					p.W276fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.827delG	19						.						42.0	49.0	47.0					19																	56203184		1870	4081	5951	60894996	SO:0001589	frameshift_variant	29924	exon7			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.827delG	19.37:g.56203184delG	ENSP00000270460:p.Trp276fs	Somatic		Capture	Illumina HiSeq	Phase_I	60894996	NM_001130072	Q86ST3|Q9HA18	Frame_Shift_Del	DEL	ENST00000270460.6	37	CCDS46199.1																																																																																				0.692	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333	
ZNF264	9422	broad.mit.edu	37	19	57722797	57722797	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr19:57722797G>A	ENST00000263095.6	+	4	746	c.332G>A	c.(331-333)gGa>gAa	p.G111E	ZNF264_ENST00000536056.1_Missense_Mutation_p.G111E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	111					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.G111E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TCACTTCAGGGACAAGTGACA	0.493																																					p.G111E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	19						.						71.0	59.0	63.0					19																	57722797		2203	4300	6503	62414609	SO:0001583	missense	9422	exon4			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.332G>A	19.37:g.57722797G>A	ENSP00000263095:p.Gly111Glu	Somatic		Capture	Illumina HiSeq	Phase_I	62414609	NM_003417	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.779220	0.00634	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.20738	2.05;2.05	2.03	0.896	0.19253	.	.	.	.	.	T	0.04137	0.0115	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41770	-0.9490	9	0.02654	T	1	.	5.3527	0.16043	0.2173:0.0:0.7827:0.0	.	111	O43296	ZN264_HUMAN	E	111	ENSP00000263095:G111E;ENSP00000440376:G111E	ENSP00000263095:G111E	G	+	2	0	ZNF264	62414609	0.000000	0.05858	0.024000	0.17045	0.042000	0.13812	-0.206000	0.09398	0.332000	0.23536	0.555000	0.69702	GGA		0.493	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
PKN2	5586	broad.mit.edu	37	1	89271484	89271485	+	Intron	INS	-	-	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:89271484_89271485insA	ENST00000370521.3	+	12	2035				PKN2_ENST00000544045.1_Intron|PKN2_ENST00000316005.7_Frame_Shift_Ins_p.K603fs|PKN2_ENST00000370505.3_Intron|PKN2_ENST00000370513.5_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2						apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.*605fs*6(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCTGTTTACTTAAAAAGTAAAT	0.292																																					.												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	.	1						.																																			89044073	SO:0001627	intron_variant	5586	.			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1677-89->A	1.37:g.89271489_89271489dupA		Somatic		Capture	Illumina HiSeq	Phase_I	89044072	.	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Frame_Shift_Ins	INS	ENST00000370521.3	37	CCDS714.1																																																																																				0.292	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256	
S1PR1	1901	broad.mit.edu	37	1	101705339	101705339	+	Missense_Mutation	SNP	G	G	A	rs528925521		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:101705339G>A	ENST00000305352.6	+	2	1174	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	267	Sphingosine 1-phosphate binding.				actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.A267T(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGTCTTCATCGCCTGCTGGGC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20420	0.0		0.0	False		,,,				2504	0.001				p.A267T												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G799A	1						.						122.0	122.0	122.0					1																	101705339		2203	4300	6503	101477927	SO:0001583	missense	1901	exon2			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.799G>A	1.37:g.101705339G>A	ENSP00000305416:p.Ala267Thr	Somatic		Capture	Illumina HiSeq	Phase_I	101477927	NM_001400	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068598	0.76301	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.37752	1.18	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.106892	0.64402	D	0.000005	T	0.44052	0.1275	M	0.72479	2.2	0.58432	D	0.999992	D	0.63046	0.992	P	0.62649	0.905	T	0.49643	-0.8918	10	0.72032	D	0.01	.	8.7817	0.34795	0.0797:0.152:0.7683:0.0	.	267	P21453	S1PR1_HUMAN	T	267	ENSP00000305416:A267T	ENSP00000305416:A267T	A	+	1	0	S1PR1	101477927	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.670000	0.74467	2.378000	0.81104	0.305000	0.20034	GCC		0.577	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400	
KIAA1324	57535	broad.mit.edu	37	1	109734383	109734383	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:109734383G>A	ENST00000369939.3	+	13	1764	c.1581G>A	c.(1579-1581)acG>acA	p.T527T	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.T440T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	527					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.T527T(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGTGGAGACGTGGAAAGGTT	0.542																																					p.T527T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1581A	1						.						177.0	166.0	169.0					1																	109734383		2203	4300	6503	109535906	SO:0001819	synonymous_variant	57535	exon13			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1581G>A	1.37:g.109734383G>A		Somatic		Capture	Illumina HiSeq	Phase_I	109535906	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	CCDS794.1																																																																																				0.542	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
AMIGO1	57463	broad.mit.edu	37	1	110051427	110051427	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:110051427G>A	ENST00000369864.4	-	2	457	c.108C>T	c.(106-108)gcC>gcT	p.A36A	AMIGO1_ENST00000369862.1_Silent_p.A36A					adhesion molecule with Ig-like domain 1									p.A36A(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACAAGCAGGCGGCAGGACAGC	0.627																																					p.A36A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108T	1						.						37.0	38.0	37.0					1																	110051427		2203	4300	6503	109852950	SO:0001819	synonymous_variant	57463	exon2				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.108C>T	1.37:g.110051427G>A		Somatic		Capture	Illumina HiSeq	Phase_I	109852950	NM_020703		Silent	SNP	ENST00000369864.4	37	CCDS30795.1																																																																																				0.627	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703	
MTOR	2475	broad.mit.edu	37	1	11298519	11298519	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:11298519C>T	ENST00000361445.4	-	12	2018	c.1942G>A	c.(1942-1944)Gca>Aca	p.A648T		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	648	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A648T(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACTTGCACTGCGGTCTGGCTA	0.567																																					p.A648T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1942A	1						.						130.0	110.0	117.0					1																	11298519		2203	4300	6503	11221106	SO:0001583	missense	2475	exon12			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1942G>A	1.37:g.11298519C>T	ENSP00000354558:p.Ala648Thr	Somatic		Capture	Illumina HiSeq	Phase_I	11221106	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540534	0.65085	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.33865	1.39	5.47	5.47	0.80525	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.28192	0.835	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.17258	-1.0375	10	0.13853	T	0.58	-6.2304	19.3245	0.94256	0.0:1.0:0.0:0.0	.	648	P42345	MTOR_HUMAN	T	648	ENSP00000354558:A648T	ENSP00000354558:A648T	A	-	1	0	MTOR	11221106	1.000000	0.71417	0.864000	0.33941	0.986000	0.74619	7.456000	0.80751	2.581000	0.87130	0.563000	0.77884	GCA		0.567	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
KCNA10	3744	broad.mit.edu	37	1	111060676	111060676	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:111060676C>A	ENST00000369771.2	-	1	1121	c.734G>T	c.(733-735)aGg>aTg	p.R245M		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	245					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R245M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTTTAGCTCCCTATCCTCCCG	0.567																																					p.R245M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G734T	1						.						150.0	123.0	132.0					1																	111060676		2203	4300	6503	110862199	SO:0001583	missense	3744	exon1			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.734G>T	1.37:g.111060676C>A	ENSP00000358786:p.Arg245Met	Somatic		Capture	Illumina HiSeq	Phase_I	110862199	NM_005549		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811391	0.32053	.	.	ENSG00000143105	ENST00000369771	T	0.63580	-0.05	6.07	6.07	0.98685	.	2.627230	0.01501	N	0.017500	T	0.56819	0.2011	L	0.60067	1.865	0.39423	D	0.966949	B	0.19817	0.039	B	0.14023	0.01	T	0.40534	-0.9558	10	0.59425	D	0.04	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	245	Q16322	KCA10_HUMAN	M	245	ENSP00000358786:R245M	ENSP00000358786:R245M	R	-	2	0	KCNA10	110862199	0.304000	0.24472	0.988000	0.46212	0.713000	0.41058	2.021000	0.41020	2.884000	0.98904	0.655000	0.94253	AGG		0.567	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
KCND3	3752	broad.mit.edu	37	1	112525179	112525179	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:112525179G>A	ENST00000315987.2	-	2	649	c.170C>T	c.(169-171)aCg>aTg	p.T57M	KCND3_ENST00000302127.4_Missense_Mutation_p.T57M|KCND3_ENST00000369697.1_Missense_Mutation_p.T57M	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	57					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T57M(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCGCTCCAGCGTGGTCCTCCA	0.627																																					p.T57M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170T	1						.						80.0	75.0	76.0					1																	112525179		2203	4300	6503	112326702	SO:0001583	missense	3752	exon2			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.170C>T	1.37:g.112525179G>A	ENSP00000319591:p.Thr57Met	Somatic		Capture	Illumina HiSeq	Phase_I	112326702	NM_004980	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984693	0.74474	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	T;T;T	0.80909	-1.43;-1.43;-1.43	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.93210	0.7837	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	D	0.95089	0.8220	10	0.66056	D	0.02	.	18.7773	0.91916	0.0:0.0:1.0:0.0	.	57;57	Q14D71;Q9UK17	.;KCND3_HUMAN	M	57	ENSP00000358711:T57M;ENSP00000319591:T57M;ENSP00000306923:T57M	ENSP00000306923:T57M	T	-	2	0	KCND3	112326702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.542000	0.85734	0.561000	0.74099	ACG		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
CAPZA1	829	broad.mit.edu	37	1	113212740	113212740	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:113212740A>G	ENST00000263168.3	+	10	1519	c.847A>G	c.(847-849)Atg>Gtg	p.M283V	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	283					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)	p.M283V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCAAAGAAATGCAGAATGC	0.413																																					p.M283V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A847G	1						.						65.0	62.0	63.0					1																	113212740		2203	4300	6503	113014263	SO:0001583	missense	829	exon10			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.847A>G	1.37:g.113212740A>G	ENSP00000263168:p.Met283Val	Somatic		Capture	Illumina HiSeq	Phase_I	113014263	NM_006135	Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.531166	0.64972	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.46	5.46	0.80206	.	0.232860	0.56097	D	0.000032	T	0.45836	0.1362	N	0.21373	0.66	0.54753	D	0.999981	P	0.40332	0.713	P	0.51742	0.678	T	0.46911	-0.9157	9	0.32370	T	0.25	-6.9751	15.5452	0.76093	1.0:0.0:0.0:0.0	.	283	P52907	CAZA1_HUMAN	V	283	.	ENSP00000263168:M283V	M	+	1	0	CAPZA1	113014263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.217000	0.71921	0.524000	0.50904	ATG		0.413	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135	
IGSF3	3321	broad.mit.edu	37	1	117146318	117146318	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:117146318G>A	ENST00000369486.3	-	6	2317	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	IGSF3_ENST00000318837.6_Missense_Mutation_p.R538W|IGSF3_ENST00000369483.1_Missense_Mutation_p.R538W	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	518	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.R538W(1)|p.R518W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCCACTGCCCGCACCCATTCA	0.612																																					p.R538W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1612T	1						.						64.0	55.0	58.0					1																	117146318		2203	4300	6503	116947841	SO:0001583	missense	3321	exon7			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1552C>T	1.37:g.117146318G>A	ENSP00000358498:p.Arg518Trp	Somatic		Capture	Illumina HiSeq	Phase_I	116947841	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486769	0.63962	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03386	3.98;3.95;3.95	5.06	4.12	0.48240	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.066140	0.64402	D	0.000006	T	0.04543	0.0124	N	0.22421	0.69	0.46336	D	0.998999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77004	0.958;0.989;0.975	T	0.46512	-0.9186	10	0.72032	D	0.01	-36.4232	12.3858	0.55330	0.0:0.0:0.8306:0.1694	.	538;518;538	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	W	518;538;538	ENSP00000358498:R518W;ENSP00000358495:R538W;ENSP00000321184:R538W	ENSP00000321184:R538W	R	-	1	2	IGSF3	116947841	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	5.585000	0.67497	1.291000	0.44653	0.557000	0.71058	CGG		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
TNFRSF8	943	broad.mit.edu	37	1	12170188	12170188	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:12170188C>A	ENST00000263932.2	+	6	825	c.603C>A	c.(601-603)gcC>gcA	p.A201A	TNFRSF8_ENST00000417814.2_Silent_p.A90A	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	201					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.A201A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CCCGCCTCGCCCAGGAAGCTG	0.627																																					p.A201A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603A	1						.						49.0	46.0	47.0					1																	12170188		2203	4300	6503	12092775	SO:0001819	synonymous_variant	943	exon6			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.603C>A	1.37:g.12170188C>A		Somatic		Capture	Illumina HiSeq	Phase_I	12092775	NM_001243	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	CCDS144.1																																																																																				0.627	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
ADAM30	11085	broad.mit.edu	37	1	120437192	120437192	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:120437192C>A	ENST00000369400.1	-	1	1926	c.1768G>T	c.(1768-1770)Ggc>Tgc	p.G590C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	590	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G590C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGATGATAGCCTGTGCCCCAG	0.418																																					p.G590C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1768T	1						.						102.0	101.0	101.0					1																	120437192		2203	4300	6503	120238715	SO:0001583	missense	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1768G>T	1.37:g.120437192C>A	ENSP00000358407:p.Gly590Cys	Somatic		Capture	Illumina HiSeq	Phase_I	120238715	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451061	0.84209	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.22539	1.95	5.38	3.51	0.40186	ADAM, cysteine-rich (2);	0.289856	0.24391	N	0.038925	T	0.22898	0.0553	L	0.60455	1.87	0.24190	N	0.995551	D	0.71674	0.998	D	0.72075	0.976	T	0.05209	-1.0899	10	0.72032	D	0.01	.	7.2653	0.26226	0.0:0.8028:0.0:0.1972	.	590	Q9UKF2	ADA30_HUMAN	C	590	ENSP00000358407:G590C	ENSP00000358407:G590C	G	-	1	0	ADAM30	120238715	0.988000	0.35896	0.590000	0.28732	0.799000	0.45148	3.237000	0.51344	0.820000	0.34516	0.655000	0.94253	GGC		0.418	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
PDE4DIP	9659	broad.mit.edu	37	1	144874743	144874743	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:144874743T>A	ENST00000369354.3	-	30	5054	c.4865A>T	c.(4864-4866)gAc>gTc	p.D1622V	AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D1578V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D1758V|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D1622V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D1758V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1622	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.				cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.D1622V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TATGTCCATGTCAGAGCAGGC	0.542			T	PDGFRB	MPD																																p.D1578V			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4733T	1						.						317.0	301.0	306.0					1																	144874743		2203	4296	6499	143586100	SO:0001583	missense	9659	exon33			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4865A>T	1.37:g.144874743T>A	ENSP00000358360:p.Asp1622Val	Somatic		Capture	Illumina HiSeq	Phase_I	143586100	NM_001198832	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184808	0.78677	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02472	4.42;4.39;4.4;4.28;4.43	5.91	4.78	0.61160	DUF1220 (1);	.	.	.	.	T	0.05960	0.0155	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.976;1.0	T	0.08638	-1.0712	9	0.87932	D	0	.	11.6016	0.51006	0.0:0.0:0.1492:0.8508	.	1578;1622	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	1578;1622;1622;1758;1758	ENSP00000327209:D1578V;ENSP00000358360:D1622V;ENSP00000358363:D1622V;ENSP00000435654:D1758V;ENSP00000358366:D1758V	ENSP00000327209:D1578V	D	-	2	0	PDE4DIP	143586100	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.458000	0.80787	1.045000	0.40225	0.528000	0.53228	GAC		0.542	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
TUFT1	7286	broad.mit.edu	37	1	151552161	151552161	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:151552161G>A	ENST00000368849.3	+	11	1023	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	TUFT1_ENST00000368848.2_Missense_Mutation_p.A296T|TUFT1_ENST00000392712.3_Missense_Mutation_p.A266T|TUFT1_ENST00000353024.3_Missense_Mutation_p.A262T|TUFT1_ENST00000538902.1_Missense_Mutation_p.A340T	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	321					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)	p.A321T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCAAAGGACGCCACCATCCA	0.522																																					p.A321T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G961A	1						.						68.0	60.0	63.0					1																	151552161		2203	4300	6503	149818785	SO:0001583	missense	7286	exon11			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.961G>A	1.37:g.151552161G>A	ENSP00000357842:p.Ala321Thr	Somatic		Capture	Illumina HiSeq	Phase_I	149818785	NM_020127	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	6.375	0.437235	0.12104	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	6.02	-4.63	0.03359	.	0.747729	0.13777	N	0.363533	T	0.16769	0.0403	N	0.01188	-0.97	0.09310	N	0.999997	B;B;B	0.28760	0.221;0.006;0.006	B;B;B	0.16722	0.016;0.006;0.006	T	0.45542	-0.9254	10	0.13853	T	0.58	-0.0111	6.6121	0.22757	0.5638:0.0:0.2419:0.1942	.	340;296;321	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	T	321;266;262;296;340	ENSP00000357842:A321T;ENSP00000376476:A266T;ENSP00000343781:A262T;ENSP00000357841:A296T;ENSP00000437997:A340T	ENSP00000343781:A262T	A	+	1	0	TUFT1	149818785	0.000000	0.05858	0.085000	0.20634	0.954000	0.61252	0.122000	0.15687	-0.757000	0.04697	-1.850000	0.00570	GCC		0.522	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127	
TCHH	7062	broad.mit.edu	37	1	152084018	152084018	+	Missense_Mutation	SNP	C	C	T	rs200636785		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:152084018C>T	ENST00000368804.1	-	2	1674	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	559	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E559K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCTGCTCGAGCCTCTTC	0.662																																					p.E559K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1675A	1						.						64.0	71.0	69.0					1																	152084018		2014	4177	6191	150350642	SO:0001583	missense	7062	exon2			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1675G>A	1.37:g.152084018C>T	ENSP00000357794:p.Glu559Lys	Somatic		Capture	Illumina HiSeq	Phase_I	150350642	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	8.481	0.859861	0.17178	.	.	ENSG00000159450	ENST00000368804	T	0.05447	3.44	1.56	-3.12	0.05282	.	.	.	.	.	T	0.00754	0.0025	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.47849	-0.9085	9	0.22706	T	0.39	.	1.6133	0.02698	0.1673:0.3745:0.2955:0.1627	.	559	Q07283	TRHY_HUMAN	K	559	ENSP00000357794:E559K	ENSP00000357794:E559K	E	-	1	0	TCHH	150350642	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.907000	0.04067	-1.309000	0.02315	0.388000	0.25769	GAG		0.662	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
LCE1B	353132	broad.mit.edu	37	1	152785042	152785042	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:152785042C>A	ENST00000360090.3	+	1	596	c.120C>A	c.(118-120)gtC>gtA	p.V40V		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	40					keratinization (GO:0031424)			p.V40V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCCTCCAGTCTCTTCCTGCT	0.642																																					p.V40V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120A	1						.						91.0	94.0	93.0					1																	152785042		2203	4300	6503	151051666	SO:0001819	synonymous_variant	353132	exon1			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.120C>A	1.37:g.152785042C>A		Somatic		Capture	Illumina HiSeq	Phase_I	151051666	NM_178349	A4IF40	Silent	SNP	ENST00000360090.3	37	CCDS1027.1																																																																																				0.642	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349	
KAZN	23254	broad.mit.edu	37	1	15382593	15382593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:15382593C>T	ENST00000376030.2	+	5	1027	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	KAZN_ENST00000400798.2_Nonsense_Mutation_p.Q151*|KAZN_ENST00000400797.3_Nonsense_Mutation_p.Q151*|KAZN_ENST00000422387.2_Nonsense_Mutation_p.Q245*|KAZN_ENST00000361144.5_Nonsense_Mutation_p.Q239*|KAZN_ENST00000503743.1_Nonsense_Mutation_p.Q245*	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	245	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.Q239*(1)|p.Q245*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCAGGCCAAACAGTCCTTAGC	0.602																																					p.Q245X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C733T	1						.						84.0	81.0	82.0					1																	15382593		2203	4300	6503	15255180	SO:0001587	stop_gained	23254	exon5			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.733C>T	1.37:g.15382593C>T	ENSP00000365198:p.Gln245*	Somatic		Capture	Illumina HiSeq	Phase_I	15255180	NM_201628	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Nonsense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	37	6.519089	0.97633	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	.	.	.	5.68	5.68	0.88126	.	0.053758	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-33.7301	18.8336	0.92151	0.0:1.0:0.0:0.0	.	.	.	.	X	245;245;245;239;151;151;151	.	ENSP00000354727:Q239X	Q	+	1	0	KAZN	15255180	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.202000	0.77856	2.695000	0.91970	0.555000	0.69702	CAG		0.602	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
SPRR1A	6698	broad.mit.edu	37	1	152957912	152957912	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:152957912T>C	ENST00000368762.1	+	1	206	c.206T>C	c.(205-207)gTg>gCg	p.V69A	SPRR1A_ENST00000307122.2_Missense_Mutation_p.V69A			P35321	SPR1A_HUMAN	small proline-rich protein 1A	69	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.V69A(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCCCAAGGTGCCTGAGCCC	0.632																																					p.V69A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T206C	1						.						104.0	97.0	100.0					1																	152957912		2203	4300	6503	151224536	SO:0001583	missense	6698	exon2			L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.206T>C	1.37:g.152957912T>C	ENSP00000357751:p.Val69Ala	Somatic		Capture	Illumina HiSeq	Phase_I	151224536	NM_005987	B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362107	0.41902	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.17691	2.26;2.26	5.64	3.34	0.38264	.	0.496576	0.14954	N	0.288734	T	0.04861	0.0131	.	.	.	0.22185	N	0.999303	B	0.29232	0.238	B	0.32393	0.145	T	0.32771	-0.9894	9	0.44086	T	0.13	-2.5637	6.6146	0.22771	0.0:0.1838:0.0:0.8162	.	69	P35321	SPR1A_HUMAN	A	69	ENSP00000307340:V69A;ENSP00000357751:V69A	ENSP00000307340:V69A	V	+	2	0	SPRR1A	151224536	0.002000	0.14202	0.803000	0.32268	0.812000	0.45895	0.239000	0.18023	0.966000	0.38159	0.454000	0.30748	GTG		0.632	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987	
CHRNB2	1141	broad.mit.edu	37	1	154544001	154544001	+	Silent	SNP	G	G	A	rs200050755		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:154544001G>A	ENST00000368476.3	+	5	966	c.702G>A	c.(700-702)ccG>ccA	p.P234P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	234					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.P234P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCCGCAAGCCGCTCTTCTACA	0.577																																					p.P234P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G702A	1						.						345.0	267.0	293.0					1																	154544001		2203	4300	6503	152810625	SO:0001819	synonymous_variant	1141	exon5			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.702G>A	1.37:g.154544001G>A		Somatic		Capture	Illumina HiSeq	Phase_I	152810625	NM_000748	Q9UEH9	Silent	SNP	ENST00000368476.3	37	CCDS1070.1																																																																																				0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748	
RUSC1	23623	broad.mit.edu	37	1	155291225	155291225	+	Intron	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:155291225G>A	ENST00000368352.5	+	2	65				RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCAGGCCCCCGCCCCCCTTCG	0.652																																					p.R19W												.	.	0			c.C55T	1						.						11.0	12.0	12.0					1																	155291225		1832	4074	5906	153557849	SO:0001627	intron_variant	284618	exon2			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-86-254G>A	1.37:g.155291225G>A		Somatic		Capture	Illumina HiSeq	Phase_I	153557849	NM_001039517	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																				0.652	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1		
IQGAP3	128239	broad.mit.edu	37	1	156531661	156531661	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:156531661T>C	ENST00000361170.2	-	10	1020	c.1010A>G	c.(1009-1011)cAg>cGg	p.Q337R		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	337					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.Q337R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGTTCAGCTGCTCCAGGTA	0.557																																					p.Q337R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1010G	1						.						107.0	84.0	92.0					1																	156531661		2203	4300	6503	154798285	SO:0001583	missense	128239	exon10			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1010A>G	1.37:g.156531661T>C	ENSP00000354451:p.Gln337Arg	Somatic		Capture	Illumina HiSeq	Phase_I	154798285	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834384	0.71373	.	.	ENSG00000183856	ENST00000361170	T	0.51071	0.72	5.26	5.26	0.73747	.	0.138825	0.49305	D	0.000142	T	0.54631	0.1870	M	0.81802	2.56	0.52501	D	0.999952	D	0.60575	0.988	P	0.57204	0.815	T	0.58020	-0.7710	10	0.35671	T	0.21	-18.708	14.0065	0.64468	0.0:0.0:0.0:1.0	.	337	Q86VI3	IQGA3_HUMAN	R	337	ENSP00000354451:Q337R	ENSP00000354451:Q337R	Q	-	2	0	IQGAP3	154798285	1.000000	0.71417	0.997000	0.53966	0.481000	0.33189	6.107000	0.71517	1.986000	0.57962	0.459000	0.35465	CAG		0.557	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
NES	10763	broad.mit.edu	37	1	156643277	156643277	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:156643277G>A	ENST00000368223.3	-	3	1083	c.951C>T	c.(949-951)ggC>ggT	p.G317G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	317	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.G317G(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGCCACCGCCAGGTGTTT	0.602																																					p.G317G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	1						.						57.0	63.0	61.0					1																	156643277		2203	4300	6503	154909901	SO:0001819	synonymous_variant	10763	exon3			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.951C>T	1.37:g.156643277G>A		Somatic		Capture	Illumina HiSeq	Phase_I	154909901	NM_006617	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																				0.602	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
OR6K3	391114	broad.mit.edu	37	1	158687276	158687276	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:158687276G>A	ENST00000368146.1	-	1	677	c.678C>T	c.(676-678)ttC>ttT	p.F226F	OR6K3_ENST00000368145.1_Silent_p.F210F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F226F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAATGATTAGGAAGGTAATGA	0.468																																					p.F210F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C630T	1						.						132.0	124.0	127.0					1																	158687276		2203	4300	6503	156953900	SO:0001819	synonymous_variant	391114	exon1			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.678C>T	1.37:g.158687276G>A		Somatic		Capture	Illumina HiSeq	Phase_I	156953900	NM_001005327	Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37																																																																																					0.468	OR6K3-201	KNOWN	basic	protein_coding	protein_coding			
IGSF9	57549	broad.mit.edu	37	1	159912790	159912790	+	Silent	SNP	G	G	A	rs573559309	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:159912790G>A	ENST00000368094.1	-	3	407	c.210C>T	c.(208-210)ttC>ttT	p.F70F	IGSF9_ENST00000361509.3_Silent_p.F70F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	70	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F70F(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTAGAGGCCGAACTGGATGA	0.602													g|||	3	0.000599042	0.0	0.0	5008	,	,		17215	0.0		0.0	False		,,,				2504	0.0031				p.F70F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C210T	1						.						58.0	60.0	59.0					1																	159912790		2203	4300	6503	158179414	SO:0001819	synonymous_variant	57549	exon3			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.210C>T	1.37:g.159912790G>A		Somatic		Capture	Illumina HiSeq	Phase_I	158179414	NM_001135050		Silent	SNP	ENST00000368094.1	37	CCDS44254.1																																																																																				0.602	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
ATP1A4	480	broad.mit.edu	37	1	160144390	160144390	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:160144390G>T	ENST00000368081.4	+	15	2635	c.2164G>T	c.(2164-2166)Ggt>Tgt	p.G722C	ATP1A4_ENST00000470705.1_5'Flank|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	722					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.G722C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCGTGACAGGTGACGGGGT	0.532																																					p.G722C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2164T	1						.						108.0	84.0	92.0					1																	160144390		2203	4300	6503	158411014	SO:0001583	missense	480	exon15			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2164G>T	1.37:g.160144390G>T	ENSP00000357060:p.Gly722Cys	Somatic		Capture	Illumina HiSeq	Phase_I	158411014	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516679	0.64634	.	.	ENSG00000132681	ENST00000368081	D	0.99935	-8.29	4.2	4.2	0.49525	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96279	0.9205	10	0.87932	D	0	.	14.4423	0.67325	0.0:0.0:1.0:0.0	.	722	Q13733	AT1A4_HUMAN	C	722	ENSP00000357060:G722C	ENSP00000357060:G722C	G	+	1	0	ATP1A4	158411014	1.000000	0.71417	0.132000	0.22025	0.442000	0.32017	9.619000	0.98369	2.336000	0.79503	0.609000	0.83330	GGT		0.532	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
ATP1A4	480	broad.mit.edu	37	1	160156153	160156153	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:160156153G>A	ENST00000368081.4	+	21	3528	c.3057G>A	c.(3055-3057)ccG>ccA	p.P1019P	ATP1A4_ENST00000470705.1_Silent_p.P155P	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1019					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.P1019P(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCAGCACCCGGATGGTGAGG	0.557																																					p.P1019P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3057A	1						.						137.0	143.0	141.0					1																	160156153		2203	4300	6503	158422777	SO:0001819	synonymous_variant	480	exon21			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.3057G>A	1.37:g.160156153G>A		Somatic		Capture	Illumina HiSeq	Phase_I	158422777	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																				0.557	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
NUF2	83540	broad.mit.edu	37	1	163317716	163317716	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:163317716G>A	ENST00000271452.3	+	12	1391	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	NUF2_ENST00000524800.1_Missense_Mutation_p.R324H|NUF2_ENST00000367900.3_Missense_Mutation_p.R371H	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	371	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.R371H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAATACAAACGCACAGTAATT	0.318																																					p.R371H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1112A	1						.						69.0	66.0	67.0					1																	163317716		2203	4300	6503	161584340	SO:0001583	missense	83540	exon12			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1112G>A	1.37:g.163317716G>A	ENSP00000271452:p.Arg371His	Somatic		Capture	Illumina HiSeq	Phase_I	161584340	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089136	0.36855	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.34859	1.45;1.34;1.34	6.03	4.13	0.48395	.	0.220012	0.49916	D	0.000130	T	0.07863	0.0197	N	0.16478	0.41	0.28144	N	0.929683	P;P	0.39352	0.669;0.669	B;B	0.27076	0.076;0.046	T	0.11372	-1.0590	9	0.44086	T	0.13	-6.6183	9.1986	0.37244	0.2248:0.0:0.7752:0.0	.	324;371	E9PQC4;Q9BZD4	.;NUF2_HUMAN	H	324;371;371	ENSP00000436888:R324H;ENSP00000356875:R371H;ENSP00000271452:R371H	ENSP00000271452:R371H	R	+	2	0	NUF2	161584340	0.995000	0.38212	0.857000	0.33713	0.990000	0.78478	1.124000	0.31320	1.521000	0.48983	0.655000	0.94253	CGC		0.318	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
TADA1	117143	broad.mit.edu	37	1	166839033	166839033	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:166839033G>T	ENST00000367874.4	-	2	226	c.133C>A	c.(133-135)Ctt>Att	p.L45I		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	45					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.L45I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TGAGCTTCAAGGTCAAACTCC	0.378																																					p.L45I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133A	1						.						134.0	137.0	136.0					1																	166839033		2203	4300	6503	165105657	SO:0001583	missense	117143	exon2			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.133C>A	1.37:g.166839033G>T	ENSP00000356848:p.Leu45Ile	Somatic		Capture	Illumina HiSeq	Phase_I	165105657	NM_053053	A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482825	0.26598	.	.	ENSG00000152382	ENST00000367874	T	0.46451	0.87	5.44	4.51	0.55191	.	0.148529	0.44285	D	0.000461	T	0.13586	0.0329	L	0.35854	1.095	0.32629	N	0.522239	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.005	T	0.08452	-1.0721	9	0.14656	T	0.56	-0.0991	7.6224	0.28193	0.0875:0.0:0.7459:0.1666	.	45;45	A8K4J9;Q96BN2	.;TADA1_HUMAN	I	45	ENSP00000356848:L45I	ENSP00000356848:L45I	L	-	1	0	TADA1	165105657	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.031000	0.30165	2.707000	0.92482	0.655000	0.94253	CTT		0.378	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053	
METTL18	92342	broad.mit.edu	37	1	169762735	169762735	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:169762735T>C	ENST00000310392.4	-	2	455	c.102A>G	c.(100-102)tcA>tcG	p.S34S	C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000359326.4_5'Flank|METTL18_ENST00000303469.2_Silent_p.S34S|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000413811.2_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	34						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.S34S(1)		kidney(1)|large_intestine(3)|lung(4)	8						TTTCTGAGACTGACAGCTCTT	0.398																																					p.S34S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A102G	1						.						115.0	116.0	116.0					1																	169762735		2203	4300	6503	168029359	SO:0001819	synonymous_variant	92342	exon2			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.102A>G	1.37:g.169762735T>C		Somatic		Capture	Illumina HiSeq	Phase_I	168029359	NM_033418	B2R9T5	Silent	SNP	ENST00000310392.4	37	CCDS1284.1																																																																																				0.398	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418	
PADI3	51702	broad.mit.edu	37	1	17603022	17603022	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:17603022G>A	ENST00000375460.3	+	12	1356	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	439					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.G439D(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGTCAAGTGGCCGCAGGGTC	0.517																																					p.G439D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1316A	1						.						64.0	69.0	67.0					1																	17603022		2203	4300	6503	17475609	SO:0001583	missense	51702	exon12			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1316G>A	1.37:g.17603022G>A	ENSP00000364609:p.Gly439Asp	Somatic		Capture	Illumina HiSeq	Phase_I	17475609	NM_016233	Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371407	0.95923	.	.	ENSG00000142619	ENST00000375460	T	0.26660	1.72	5.52	5.52	0.82312	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.84683	2.71	0.80722	D	1	P	0.39094	0.659	B	0.42882	0.401	T	0.40251	-0.9573	10	0.48119	T	0.1	-39.2014	16.5176	0.84305	0.0:0.0:1.0:0.0	.	439	Q9ULW8	PADI3_HUMAN	D	439	ENSP00000364609:G439D	ENSP00000364609:G439D	G	+	2	0	PADI3	17475609	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.340000	0.79292	2.754000	0.94517	0.650000	0.86243	GGC		0.517	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1		
TNR	7143	broad.mit.edu	37	1	175332868	175332868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:175332868G>A	ENST00000367674.2	-	13	3391	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R895*			Q92752	TENR_HUMAN	tenascin R	895	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R895*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TATGATACTCGGTAGTAATCG	0.438																																					p.R895X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2683T	1						.						176.0	157.0	164.0					1																	175332868		2203	4300	6503	173599491	SO:0001587	stop_gained	7143	exon13			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2683C>T	1.37:g.175332868G>A	ENSP00000356646:p.Arg895*	Somatic		Capture	Illumina HiSeq	Phase_I	173599491	NM_003285	C9J563|Q15568|Q5R3G0	Nonsense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	47	13.189899	0.99726	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	.	.	.	5.5	5.5	0.81552	.	0.066190	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4074	0.55447	0.0:0.0:0.791:0.209	.	.	.	.	X	895;895;805	.	ENSP00000263525:R895X	R	-	1	2	TNR	173599491	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.088000	0.50175	2.735000	0.93741	0.655000	0.94253	CGA		0.438	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
ASTN1	460	broad.mit.edu	37	1	176863878	176863878	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:176863878G>A	ENST00000367654.3	-	17	2995	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	ASTN1_ENST00000424564.2_Silent_p.S920S|ASTN1_ENST00000367657.3_Silent_p.S920S|ASTN1_ENST00000361833.2_Silent_p.S920S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	928					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.S920S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTTGGTGCCGGAGTCTGACA	0.587																																					p.S920S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2760T	1						.						111.0	108.0	109.0					1																	176863878		2203	4300	6503	175130501	SO:0001819	synonymous_variant	460	exon17			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2784C>T	1.37:g.176863878G>A		Somatic		Capture	Illumina HiSeq	Phase_I	175130501	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																					0.587	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
COLGALT2	23127	broad.mit.edu	37	1	183908097	183908097	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:183908097G>A	ENST00000361927.4	-	12	2050	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000367520.3_Missense_Mutation_p.T297M|COLGALT2_ENST00000367521.1_Missense_Mutation_p.T168M	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	560					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.T560M(1)									TGTGTAGTGCGTAGGGTAGAT	0.557																																					p.T560M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1679T	1						.						124.0	117.0	119.0					1																	183908097		2203	4300	6503	182174720	SO:0001583	missense	23127	exon12			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1679C>T	1.37:g.183908097G>A	ENSP00000354960:p.Thr560Met	Somatic		Capture	Illumina HiSeq	Phase_I	182174720	NM_015101	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704101	0.88924	.	.	ENSG00000198756	ENST00000361927;ENST00000367521;ENST00000367520	T	0.79940	-1.32	5.21	5.21	0.72293	.	0.049946	0.85682	D	0.000000	D	0.90707	0.7084	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92015	0.5621	10	0.87932	D	0	.	18.7471	0.91797	0.0:0.0:1.0:0.0	.	560;297	Q8IYK4;Q5SXQ3	GT252_HUMAN;.	M	560;168;297	ENSP00000354960:T560M	ENSP00000354960:T560M	T	-	2	0	GLT25D2	182174720	1.000000	0.71417	0.919000	0.36401	0.853000	0.48598	7.694000	0.84235	2.411000	0.81874	0.563000	0.77884	ACG		0.557	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
CFH	3075	broad.mit.edu	37	1	196648902	196648902	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:196648902C>T	ENST00000359637.2	+	5	639	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	CFH_ENST00000367429.4_Missense_Mutation_p.R257C|CFH_ENST00000439155.2_Missense_Mutation_p.R257C			P08603	CFAH_HUMAN	complement factor H	257	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R257C(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCTGGATGGCGTCCGTTGCC	0.299																																					p.R257C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769T	1						.						98.0	90.0	93.0					1																	196648902		2203	4298	6501	194915525	SO:0001583	missense	3075	exon6			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.577C>T	1.37:g.196648902C>T	ENSP00000352658:p.Arg193Cys	Somatic		Capture	Illumina HiSeq	Phase_I	194915525	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	C	9.927	1.213730	0.22289	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64991	-0.13;-0.13;-0.13	5.85	3.56	0.40772	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.44767	0.1309	N	0.08118	0	0.36133	D	0.846243	B;P;P;P	0.45428	0.416;0.764;0.826;0.858	B;P;B;B	0.46940	0.314;0.532;0.314;0.108	T	0.53322	-0.8455	9	0.72032	D	0.01	.	6.1155	0.20124	0.7434:0.1721:0.0845:0.0	.	193;257;257;257	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	C	257;257;257;193	ENSP00000356399:R257C;ENSP00000402656:R257C;ENSP00000352658:R193C	ENSP00000352658:R193C	R	+	1	0	CFH	194915525	0.016000	0.18221	0.546000	0.28166	0.015000	0.08874	0.012000	0.13287	0.490000	0.27771	-0.397000	0.06425	CGT		0.299	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
LRRN2	10446	broad.mit.edu	37	1	204587945	204587945	+	Silent	SNP	C	C	T	rs115242471	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:204587945C>T	ENST00000367175.1	-	1	3388	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	LRRN2_ENST00000367176.3_Silent_p.P392P|LRRN2_ENST00000367177.3_Silent_p.P392P|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	392	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P392P(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGTGGATTGCGGCTCGATGA	0.662													c|||	3	0.000599042	0.0	0.0	5008	,	,		15963	0.003		0.0	False		,,,				2504	0.0				p.P392P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1176A	1						.	T	,	0,4406		0,0,2203	53.0	60.0	57.0		1176,1176	-5.1	1.0	1	dbSNP_132	57	3,8591	3.0+/-9.4	0,3,4294	no	coding-synonymous,coding-synonymous	LRRN2	NM_006338.2,NM_201630.1	,	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	,	392/714,392/714	204587945	3,12997	2203	4297	6500	202854568	SO:0001819	synonymous_variant	10446	exon2			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1176G>A	1.37:g.204587945C>T		Somatic		Capture	Illumina HiSeq	Phase_I	202854568	NM_201630	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	CCDS1448.1																																																																																				0.662	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338	
LRRN2	10446	broad.mit.edu	37	1	204588986	204588986	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:204588986C>T	ENST00000367175.1	-	1	2347	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRN2_ENST00000367176.3_Silent_p.S45S|LRRN2_ENST00000367177.3_Silent_p.S45S|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	45	LRRNT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S45S(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CGCGGTAGGACGAGCGGGGCG	0.672																																					p.S45S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G135A	1						.						37.0	37.0	37.0					1																	204588986		2203	4300	6503	202855609	SO:0001819	synonymous_variant	10446	exon2			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.135G>A	1.37:g.204588986C>T		Somatic		Capture	Illumina HiSeq	Phase_I	202855609	NM_201630	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	CCDS1448.1																																																																																				0.672	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338	
PM20D1	148811	broad.mit.edu	37	1	205801815	205801815	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:205801815A>T	ENST00000367136.4	-	11	1240	c.1196T>A	c.(1195-1197)gTc>gAc	p.V399D	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	399					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.V399D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAAGGGCTGACGGGGAGGGG	0.537																																					p.V399D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1196A	1						.						102.0	90.0	94.0					1																	205801815		2203	4300	6503	204068438	SO:0001583	missense	148811	exon11				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.1196T>A	1.37:g.205801815A>T	ENSP00000356104:p.Val399Asp	Somatic		Capture	Illumina HiSeq	Phase_I	204068438	NM_152491	Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168099	0.38315	.	.	ENSG00000162877	ENST00000367136	T	0.10860	2.83	5.26	4.12	0.48240	.	0.977787	0.08415	N	0.949294	T	0.35740	0.0942	M	0.90309	3.105	0.48975	D	0.999733	P	0.41188	0.741	P	0.54629	0.757	T	0.01081	-1.1458	10	0.87932	D	0	.	8.4021	0.32592	0.8256:0.0:0.0:0.1744	.	399	Q6GTS8	P20D1_HUMAN	D	399	ENSP00000356104:V399D	ENSP00000356104:V399D	V	-	2	0	PM20D1	204068438	0.995000	0.38212	0.696000	0.30242	0.161000	0.22273	3.502000	0.53332	0.825000	0.34637	0.533000	0.62120	GTC		0.537	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491	
CAMK1G	57172	broad.mit.edu	37	1	209773444	209773444	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:209773444C>T	ENST00000009105.1	+	3	454	c.209C>T	c.(208-210)gCt>gTt	p.A70V	CAMK1G_ENST00000361322.2_Missense_Mutation_p.A70V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A70V(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AATGAGATTGCTGTGTTGAAA	0.448																																					p.A70V	Ovarian(163;530 1939 9680 28669 48710)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C209T	1						.						145.0	129.0	135.0					1																	209773444		2203	4300	6503	207840067	SO:0001583	missense	57172	exon3				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.209C>T	1.37:g.209773444C>T	ENSP00000009105:p.Ala70Val	Somatic		Capture	Illumina HiSeq	Phase_I	207840067	NM_020439	Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703314	0.68501	.	.	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.66638	-0.22;-0.22;-0.22	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000030	T	0.65207	0.2669	L	0.42008	1.315	0.46356	D	0.999001	P;P	0.46512	0.879;0.815	B;B	0.43508	0.297;0.422	T	0.67356	-0.5691	10	0.49607	T	0.09	.	19.4157	0.94697	0.0:1.0:0.0:0.0	.	70;70	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	V	70	ENSP00000009105:A70V;ENSP00000392173:A70V;ENSP00000354861:A70V	ENSP00000009105:A70V	A	+	2	0	CAMK1G	207840067	0.954000	0.32549	0.996000	0.52242	0.948000	0.59901	2.901000	0.48695	2.589000	0.87451	0.563000	0.77884	GCT		0.448	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	
DDOST	1650	broad.mit.edu	37	1	20980731	20980731	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:20980731G>A	ENST00000375048.3	-	7	935	c.830C>T	c.(829-831)gCg>gTg	p.A277V	DDOST_ENST00000602624.2_Missense_Mutation_p.A260V|DDOST_ENST00000415136.2_Missense_Mutation_p.A240V|PINK1-AS_ENST00000451424.1_RNA	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	277					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.A277V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGCCGGGCGCCGCCTTCTG	0.622																																					p.A277V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C830T	1						.						18.0	19.0	19.0					1																	20980731		2059	4034	6093	20853318	SO:0001583	missense	1650	exon7			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.830C>T	1.37:g.20980731G>A	ENSP00000364188:p.Ala277Val	Somatic		Capture	Illumina HiSeq	Phase_I	20853318	NM_005216	B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Missense_Mutation	SNP	ENST00000375048.3	37	CCDS212.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655166	0.29425	.	.	ENSG00000244038	ENST00000375048;ENST00000415136	T;T	0.46063	0.88;0.88	5.39	3.41	0.39046	.	0.510772	0.24947	N	0.034338	T	0.37376	0.1001	L	0.53249	1.67	0.18873	N	0.999989	B;B;B	0.27765	0.06;0.188;0.098	B;B;B	0.29862	0.067;0.108;0.108	T	0.21930	-1.0231	10	0.27082	T	0.32	-0.6032	11.6156	0.51088	0.07:0.1246:0.8054:0.0	.	240;259;277	E7EWT1;B4DLI2;P39656	.;.;OST48_HUMAN	V	277;240	ENSP00000364188:A277V;ENSP00000399457:A240V	ENSP00000364188:A277V	A	-	2	0	DDOST	20853318	0.092000	0.21681	0.003000	0.11579	0.218000	0.24690	2.510000	0.45468	1.413000	0.46997	0.491000	0.48974	GCG		0.622	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216	
LAMB3	3914	broad.mit.edu	37	1	209803239	209803239	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:209803239A>G	ENST00000356082.4	-	10	1109	c.975T>C	c.(973-975)tgT>tgC	p.C325C	LAMB3_ENST00000367030.3_Silent_p.C325C|LAMB3_ENST00000391911.1_Silent_p.C325C	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	325	Laminin EGF-like 2. {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.C325C(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)		GGTCAAAGTGACATGTCTCTG	0.562																																					p.C325C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T975C	1						.						89.0	84.0	86.0					1																	209803239		2203	4300	6503	207869862	SO:0001819	synonymous_variant	3914	exon9			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.975T>C	1.37:g.209803239A>G		Somatic		Capture	Illumina HiSeq	Phase_I	207869862	NM_001017402	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																				0.562	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
USH2A	7399	broad.mit.edu	37	1	216420275	216420275	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:216420275C>T	ENST00000307340.3	-	13	2847	c.2461G>A	c.(2461-2463)Gtt>Att	p.V821I	USH2A_ENST00000366942.3_Missense_Mutation_p.V821I|USH2A_ENST00000366943.2_Missense_Mutation_p.V821I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	821	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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.V821I(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)		CTCCCTTCAACATTGGGCTTG	0.478										HNSCC(13;0.011)																											p.V821I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2461A	1						.						124.0	119.0	121.0					1																	216420275		2203	4300	6503	214486898	SO:0001583	missense	7399	exon13			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.2461G>A	1.37:g.216420275C>T	ENSP00000305941:p.Val821Ile	Somatic		Capture	Illumina HiSeq	Phase_I	214486898	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	2.537	-0.307245	0.05458	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.64991	-0.13;-0.13;-0.13	5.91	2.87	0.33458	EGF-like, laminin (3);	0.175400	0.27109	N	0.020890	T	0.53802	0.1819	M	0.66297	2.02	0.09310	N	1	B;B	0.19200	0.01;0.034	B;B	0.27887	0.084;0.023	T	0.40924	-0.9537	10	0.23891	T	0.37	.	3.9101	0.09199	0.4345:0.3524:0.0:0.2131	.	821;821	O75445-2;O75445	.;USH2A_HUMAN	I	821	ENSP00000305941:V821I;ENSP00000355910:V821I;ENSP00000355909:V821I	ENSP00000305941:V821I	V	-	1	0	USH2A	214486898	0.000000	0.05858	0.190000	0.23270	0.032000	0.12392	-0.036000	0.12185	0.824000	0.34613	0.655000	0.94253	GTT		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
MARK1	4139	broad.mit.edu	37	1	220835156	220835156	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:220835156G>C	ENST00000366917.4	+	18	2302	c.2036G>C	c.(2035-2037)aGt>aCt	p.S679T	RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000366918.4_Missense_Mutation_p.S642T|MARK1_ENST00000402574.1_Missense_Mutation_p.S529T					MAP/microtubule affinity-regulating kinase 1									p.S679T(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGTTCCAGAAGTACATCAGGG	0.413																																					p.S679T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2036C	1						.						24.0	24.0	24.0					1																	220835156		2203	4300	6503	218901779	SO:0001583	missense	4139	exon18			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2036G>C	1.37:g.220835156G>C	ENSP00000355884:p.Ser679Thr	Somatic		Capture	Illumina HiSeq	Phase_I	218901779	NM_018650		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601852	0.46423	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.50548	0.74;0.95;0.95	6.16	6.16	0.99307	Kinase-associated KA1 (1);	0.139619	0.64402	D	0.000004	T	0.47930	0.1472	L	0.56769	1.78	0.34350	D	0.689702	B;B;B;B	0.21905	0.003;0.062;0.004;0.042	B;B;B;B	0.25506	0.004;0.053;0.004;0.061	T	0.52873	-0.8517	10	0.10377	T	0.69	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	664;529;679;642	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	T	529;642;679	ENSP00000386017:S529T;ENSP00000355885:S642T;ENSP00000355884:S679T	ENSP00000355884:S679T	S	+	2	0	MARK1	218901779	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.611000	0.82962	2.937000	0.99478	0.650000	0.86243	AGT		0.413	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
HSPG2	3339	broad.mit.edu	37	1	22183816	22183816	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:22183816C>T	ENST00000374695.3	-	43	5435	c.5356G>A	c.(5356-5358)Gga>Aga	p.G1786R	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1786	Ig-like C2-type 3.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.G1786R(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACGTCAGCTCCGGGGCGCACG	0.642																																					p.G1786R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5356A	1						.						98.0	99.0	99.0					1																	22183816		2203	4300	6503	22056403	SO:0001583	missense	3339	exon43			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5356G>A	1.37:g.22183816C>T	ENSP00000363827:p.Gly1786Arg	Somatic		Capture	Illumina HiSeq	Phase_I	22056403	NM_005529	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640836	0.67244	.	.	ENSG00000142798	ENST00000374695	T	0.55234	0.53	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35936	N	0.002887	T	0.78227	0.4250	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83814	0.0243	10	0.87932	D	0	.	15.7942	0.78398	0.0:1.0:0.0:0.0	.	1786	P98160	PGBM_HUMAN	R	1786	ENSP00000363827:G1786R	ENSP00000363827:G1786R	G	-	1	0	HSPG2	22056403	1.000000	0.71417	0.642000	0.29436	0.159000	0.22180	5.318000	0.65829	2.343000	0.79666	0.655000	0.94253	GGA		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
HLX	3142	broad.mit.edu	37	1	221055655	221055655	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:221055655C>A	ENST00000366903.6	+	3	2423	c.922C>A	c.(922-924)Cag>Aag	p.Q308K	HLX_ENST00000549319.1_Missense_Mutation_p.Q94K|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	308					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q308K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGACCGAAAGCAGCTGGCGGC	0.627																																					p.Q308K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C922A	1						.						51.0	45.0	47.0					1																	221055655		2203	4300	6503	219122278	SO:0001583	missense	3142	exon3			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.922C>A	1.37:g.221055655C>A	ENSP00000355870:p.Gln308Lys	Somatic		Capture	Illumina HiSeq	Phase_I	219122278	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.760926	0.69763	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.96168	-3.93;-3.93;-3.93	5.9	5.9	0.94986	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);	0.104363	0.41396	D	0.000886	D	0.88973	0.6583	N	0.03999	-0.3	0.53688	D	0.999971	B	0.02656	0.0	B	0.14578	0.011	D	0.83910	0.0295	10	0.13470	T	0.59	-25.8078	20.3436	0.98782	0.0:1.0:0.0:0.0	.	308	Q14774	HLX_HUMAN	K	308;41;94	ENSP00000355870:Q308K;ENSP00000408248:Q41K;ENSP00000449882:Q94K	ENSP00000355870:Q308K	Q	+	1	0	HLX	219122278	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.072000	0.71238	2.821000	0.97095	0.555000	0.69702	CAG		0.627	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
EPHX1	2052	broad.mit.edu	37	1	226032963	226032963	+	Missense_Mutation	SNP	G	G	A	rs141221713		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:226032963G>A	ENST00000366837.4	+	9	1479	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	EPHX1_ENST00000272167.5_Missense_Mutation_p.R428H|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	428					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.R428H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TACATGGTTCGTGGGGGCCAC	0.587																																					p.R428H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1283A	1						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	63.0	61.0	62.0		1283,1283	2.0	0.0	1	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	428/456,428/456	226032963	1,13005	2203	4300	6503	224099586	SO:0001583	missense	2052	exon9			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1283G>A	1.37:g.226032963G>A	ENSP00000355802:p.Arg428His	Somatic		Capture	Illumina HiSeq	Phase_I	224099586	NM_001136018	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.343014	0.61073	0.0	1.16E-4	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.16196	2.36;2.36	5.11	2.03	0.26663	.	0.272597	0.36167	N	0.002754	T	0.36248	0.0960	M	0.81497	2.545	0.48185	D	0.999604	D	0.71674	0.998	P	0.60789	0.879	T	0.23726	-1.0180	10	0.72032	D	0.01	-19.1853	10.2676	0.43464	0.0739:0.2488:0.6773:0.0	.	428	P07099	HYEP_HUMAN	H	428	ENSP00000272167:R428H;ENSP00000355802:R428H	ENSP00000272167:R428H	R	+	2	0	EPHX1	224099586	1.000000	0.71417	0.002000	0.10522	0.573000	0.36030	4.666000	0.61554	0.609000	0.30018	0.462000	0.41574	CGT		0.587	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120	
GJC2	57165	broad.mit.edu	37	1	228346231	228346231	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:228346231G>A	ENST00000366714.2	+	2	947	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	258					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)	p.V258M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GGACTGCTTCGTGTCGCGCCC	0.627																																					p.V258M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G772A	1						.						106.0	108.0	107.0					1																	228346231		2203	4300	6503	226412854	SO:0001583	missense	57165	exon2			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.772G>A	1.37:g.228346231G>A	ENSP00000355675:p.Val258Met	Somatic		Capture	Illumina HiSeq	Phase_I	226412854	NM_020435	O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115619	0.56505	.	.	ENSG00000198835	ENST00000366714	D	0.96587	-4.06	3.94	3.94	0.45596	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.259259	0.31188	N	0.008099	D	0.97773	0.9269	M	0.74258	2.255	0.53005	D	0.999968	D	0.89917	1.0	D	0.85130	0.997	D	0.98750	1.0720	10	0.87932	D	0	.	16.1763	0.81855	0.0:0.0:1.0:0.0	.	258	Q5T442	CXG2_HUMAN	M	258	ENSP00000355675:V258M	ENSP00000355675:V258M	V	+	1	0	GJC2	226412854	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	6.404000	0.73268	2.056000	0.61249	0.484000	0.47621	GTG		0.627	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435	
OBSCN	84033	broad.mit.edu	37	1	228468117	228468117	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:228468117T>C	ENST00000422127.1	+	29	7945	c.7901T>C	c.(7900-7902)gTg>gCg	p.V2634A	OBSCN_ENST00000570156.2_Missense_Mutation_p.V3063A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1481A|OBSCN_ENST00000284548.11_Missense_Mutation_p.V2634A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2634	Ig-like 25.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V2917A(1)|p.V2688A(1)		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)				TCCCTGAAGGTGTCGACCTCT	0.637																																					p.V2634A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7901C	1						.						33.0	36.0	35.0					1																	228468117		2108	4205	6313	226534740	SO:0001583	missense	84033	exon29			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.7901T>C	1.37:g.228468117T>C	ENSP00000409493:p.Val2634Ala	Somatic		Capture	Illumina HiSeq	Phase_I	226534740	NM_052843	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	.	.	.	.	.	.	.	.	.	.	t	14.65	2.598083	0.46318	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.37752	1.18;1.18;1.18	5.3	5.3	0.74995	Immunoglobulin-like fold (1);	0.086426	0.47093	D	0.000259	T	0.43787	0.1263	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.977;0.993;1.0	P;P;D	0.87578	0.846;0.84;0.998	T	0.20773	-1.0265	10	0.06494	T	0.89	.	15.2577	0.73599	0.0:0.0:0.0:1.0	.	2634;2634;2634	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	A	2634;2634;1481;333;40	ENSP00000284548:V2634A;ENSP00000409493:V2634A;ENSP00000352613:V1481A	ENSP00000284548:V2634A	V	+	2	0	OBSCN	226534740	1.000000	0.71417	0.879000	0.34478	0.020000	0.10135	2.853000	0.48317	2.010000	0.58986	0.449000	0.29647	GTG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
URB2	9816	broad.mit.edu	37	1	229772124	229772124	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:229772124G>A	ENST00000258243.2	+	4	1900	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	588						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P588P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCCTTCTCCCGGACACCCCAG	0.612																																					p.P588P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1764A	1						.						99.0	103.0	102.0					1																	229772124		2203	4300	6503	227838747	SO:0001819	synonymous_variant	9816	exon4			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1764G>A	1.37:g.229772124G>A		Somatic		Capture	Illumina HiSeq	Phase_I	227838747	NM_014777	Q5VYC9	Silent	SNP	ENST00000258243.2	37	CCDS31052.1																																																																																				0.612	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
NID1	4811	broad.mit.edu	37	1	236176744	236176744	+	Missense_Mutation	SNP	G	G	A	rs111266103		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:236176744G>A	ENST00000264187.6	-	11	2453	c.2371C>T	c.(2371-2373)Cca>Tca	p.P791S	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	791	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.P791S(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GAAAAGCCTGGCAAGCAGGAA	0.542																																					p.P791S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2371T	1						.						78.0	74.0	75.0					1																	236176744		2203	4300	6503	234243367	SO:0001583	missense	4811	exon11			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2371C>T	1.37:g.236176744G>A	ENSP00000264187:p.Pro791Ser	Somatic		Capture	Illumina HiSeq	Phase_I	234243367	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662973	0.47572	.	.	ENSG00000116962	ENST00000264187	D	0.95412	-3.7	5.93	5.93	0.95920	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.050318	0.85682	D	0.000000	D	0.91516	0.7321	L	0.39020	1.185	0.80722	D	1	B	0.23442	0.085	B	0.25140	0.058	D	0.86857	0.2027	10	0.45353	T	0.12	.	9.0231	0.36213	0.0738:0.0:0.7776:0.1486	.	791	P14543	NID1_HUMAN	S	791	ENSP00000264187:P791S	ENSP00000264187:P791S	P	-	1	0	NID1	234243367	1.000000	0.71417	0.922000	0.36590	0.844000	0.47949	3.044000	0.49830	2.797000	0.96272	0.655000	0.94253	CCA		0.542	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
ZP4	57829	broad.mit.edu	37	1	238048709	238048709	+	Nonsense_Mutation	SNP	C	C	T	rs147749240		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:238048709C>T	ENST00000366570.4	-	8	1300	c.1142G>A	c.(1141-1143)tGg>tAg	p.W381*	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	381	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.W381*(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGGATGGGCCACTGTGGCTG	0.557																																					p.W381X	NSCLC(166;160 2029 11600 18754 19936)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1142A	1						.	C	stop/TRP	0,4406		0,0,2203	67.0	70.0	69.0		1142	5.1	1.0	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ZP4	NM_021186.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		381/541	238048709	1,13005	2203	4300	6503	236115332	SO:0001587	stop_gained	57829	exon8			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1142G>A	1.37:g.238048709C>T	ENSP00000355529:p.Trp381*	Somatic		Capture	Illumina HiSeq	Phase_I	236115332	NM_021186	B2RAE1	Nonsense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	39	7.542035	0.98348	0.0	1.16E-4	ENSG00000116996	ENST00000366570	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5012	16.0408	0.80680	0.0:1.0:0.0:0.0	.	.	.	.	X	381	.	ENSP00000355529:W381X	W	-	2	0	ZP4	236115332	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	6.446000	0.73460	2.376000	0.81061	0.655000	0.94253	TGG		0.557	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
FMN2	56776	broad.mit.edu	37	1	240370359	240370359	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:240370359G>A	ENST00000319653.9	+	5	2477	c.2247G>A	c.(2245-2247)acG>acA	p.T749T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	749					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.T892T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCCCACGGAAGAGGGCG	0.562																																					p.T749T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2247A	1						.						43.0	42.0	42.0					1																	240370359		2203	4300	6503	238436982	SO:0001819	synonymous_variant	56776	exon5			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2247G>A	1.37:g.240370359G>A		Somatic		Capture	Illumina HiSeq	Phase_I	238436982	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.562	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
C1orf101	257044	broad.mit.edu	37	1	244724041	244724041	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:244724041G>C	ENST00000366534.4	+	10	1155	c.1101G>C	c.(1099-1101)aaG>aaC	p.K367N	C1orf101_ENST00000366533.4_Missense_Mutation_p.K367N|C1orf101_ENST00000366531.3_Missense_Mutation_p.K216N|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	367						CatSper complex (GO:0036128)		p.K367N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTCTTCTTAAGTTTGCCAGAT	0.408																																					p.K367N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1101C	1						.						95.0	97.0	96.0					1																	244724041		2203	4300	6503	242790664	SO:0001583	missense	257044	exon10			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1101G>C	1.37:g.244724041G>C	ENSP00000355492:p.Lys367Asn	Somatic		Capture	Illumina HiSeq	Phase_I	242790664	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.254550	0.39896	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	4.97	1.33	0.21861	.	1.066250	0.07240	N	0.864024	T	0.33585	0.0868	L	0.52573	1.65	0.09310	N	1	D;D;P	0.58268	0.982;0.96;0.919	P;P;P	0.52481	0.7;0.663;0.663	T	0.20306	-1.0279	10	0.54805	T	0.06	.	6.9784	0.24690	0.7194:0.0:0.2806:0.0	.	287;367;367	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	N	367;367;367;287;216	ENSP00000355492:K367N;ENSP00000355491:K367N;ENSP00000395796:K287N;ENSP00000355489:K216N	ENSP00000355489:K216N	K	+	3	2	C1orf101	242790664	0.043000	0.20138	0.002000	0.10522	0.005000	0.04900	0.187000	0.16998	0.023000	0.15187	-0.295000	0.09555	AAG		0.408	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	
EPHA2	1969	broad.mit.edu	37	1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:16462199delG	ENST00000358432.5	-	6	1533	c.1379delC	c.(1378-1380)ccgfs	p.P461fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	461	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTGCTGCGGCGGGGGGATGCT	0.667																																					p.P460fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1379delC	1						.						51.0	51.0	51.0					1																	16462199		2203	4300	6503	16334786	SO:0001589	frameshift_variant	1969	exon6			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1379delC	1.37:g.16462199delG	ENSP00000351209:p.Pro461fs	Somatic		Capture	Illumina HiSeq	Phase_I	16334786	NM_004431	B5A968|Q8N3Z2	Frame_Shift_Del	DEL	ENST00000358432.5	37	CCDS169.1																																																																																				0.667	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	
RHCE	6006	broad.mit.edu	37	1	25735326	25735326	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:25735326G>A	ENST00000294413.7	-	2	241	c.183C>T	c.(181-183)ggC>ggT	p.G61G	RHCE_ENST00000425135.1_Silent_p.G61G|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000340849.4_Silent_p.G61G|RHCE_ENST00000413854.1_Silent_p.G61G|RHCE_ENST00000346452.4_Silent_p.G61G|RHCE_ENST00000349438.4_Silent_p.G61G|RHCE_ENST00000349320.3_Silent_p.G45G|AL031284.1_ENST00000577655.1_RNA|RHCE_ENST00000455194.1_Silent_p.G61G|RHCE_ENST00000374352.2_Silent_p.G45G|RHCE_ENST00000243186.6_Silent_p.G61G	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	61				G -> C (in Ref. 3; CAA44812). {ECO:0000305}.		integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.G61G(1)		endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGCCCAAGCCAAGGGCCG	0.577																																					p.G61G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	1						.						71.0	46.0	56.0					1																	25735326		2157	3546	5703	25607913	SO:0001819	synonymous_variant	6006	exon2			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.183C>T	1.37:g.25735326G>A		Somatic		Capture	Illumina HiSeq	Phase_I	25607913	NM_138617	A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Silent	SNP	ENST00000294413.7	37	CCDS30635.1																																																																																				0.577	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485	
FAM46B	115572	broad.mit.edu	37	1	27338948	27338948	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:27338948C>T	ENST00000289166.5	-	1	379	c.214G>A	c.(214-216)Ggg>Agg	p.G72R		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	72								p.G71R(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCCGCGCCCGTGAATGGGA	0.667																																					p.G72R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	1						.						28.0	31.0	30.0					1																	27338948		2203	4300	6503	27211535	SO:0001583	missense	115572	exon1			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.214G>A	1.37:g.27338948C>T	ENSP00000289166:p.Gly72Arg	Somatic		Capture	Illumina HiSeq	Phase_I	27211535	NM_052943		Missense_Mutation	SNP	ENST00000289166.5	37	CCDS294.2	.	.	.	.	.	.	.	.	.	.	C	32	5.179706	0.94846	.	.	ENSG00000158246	ENST00000289166	T	0.29655	1.56	5.49	4.57	0.56435	Domain of unknown function DUF1693 (1);	0.051318	0.85682	D	0.000000	T	0.63498	0.2516	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73927	-0.3828	10	0.87932	D	0	-13.2801	16.0899	0.81084	0.0:0.8657:0.1343:0.0	.	72	Q96A09	FA46B_HUMAN	R	72	ENSP00000289166:G72R	ENSP00000289166:G72R	G	-	1	0	FAM46B	27211535	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.299000	0.78831	1.527000	0.49086	0.655000	0.94253	GGG		0.667	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943	
SYTL1	84958	broad.mit.edu	37	1	27679778	27679778	+	Missense_Mutation	SNP	G	G	A	rs148530866		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:27679778G>A	ENST00000543823.1	+	13	1810	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.V438M			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	450	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)	p.V438M(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCACAGCTTCGTGCTGCCTGA	0.592																																					p.V438M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1312A	1						.	G	MET/VAL,MET/VAL	2,4400		0,2,2199	37.0	32.0	34.0		1348,1312	5.6	1.0	1	dbSNP_134	34	1,8593		0,1,4296	yes	missense,missense	SYTL1	NM_001193308.1,NM_032872.2	21,21	0,3,6495	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	450/563,438/551	27679778	3,12993	2201	4297	6498	27552365	SO:0001583	missense	84958	exon14			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1348G>A	1.37:g.27679778G>A	ENSP00000440704:p.Val450Met	Somatic		Capture	Illumina HiSeq	Phase_I	27552365	NM_032872	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716423	0.68844	4.54E-4	1.16E-4	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.70986	-0.53;-0.53	5.57	5.57	0.84162	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058947	0.64402	D	0.000003	T	0.82235	0.4993	M	0.71581	2.175	0.47547	D	0.999452	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.85130	0.997;0.96;0.981	D	0.83701	0.0182	10	0.87932	D	0	-30.317	12.4369	0.55604	0.0811:0.0:0.9189:0.0	.	450;450;438	A8KAH3;Q8IYJ3;Q8IYJ3-2	.;SYTL1_HUMAN;.	M	438;450	ENSP00000316464:V438M;ENSP00000440704:V450M	ENSP00000316464:V438M	V	+	1	0	SYTL1	27552365	0.976000	0.34144	0.960000	0.40013	0.729000	0.41735	1.829000	0.39121	2.630000	0.89119	0.561000	0.74099	GTG		0.592	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872	
MAP3K6	9064	broad.mit.edu	37	1	27689171	27689171	+	Missense_Mutation	SNP	C	C	T	rs536088084		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:27689171C>T	ENST00000493901.1	-	9	1455	c.1216G>A	c.(1216-1218)Ggg>Agg	p.G406R	MAP3K6_ENST00000357582.2_Missense_Mutation_p.G406R|MAP3K6_ENST00000374040.3_Missense_Mutation_p.G398R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	406					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.G398R(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGTGCTGCCCGGCAGCAATG	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21168	0.0		0.0	False		,,,				2504	0.0				p.G406R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1216A	1						.						30.0	30.0	30.0					1																	27689171		2202	4300	6502	27561758	SO:0001583	missense	9064	exon8			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1216G>A	1.37:g.27689171C>T	ENSP00000419591:p.Gly406Arg	Somatic		Capture	Illumina HiSeq	Phase_I	27561758	NM_004672	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820633	0.90873	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.13901	2.55;2.55;2.55	4.6	4.6	0.57074	.	.	.	.	.	T	0.39733	0.1089	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.36817	-0.9732	9	0.87932	D	0	.	16.3529	0.83224	0.0:1.0:0.0:0.0	.	398;406	O95382-3;O95382	.;M3K6_HUMAN	R	398;406;129;406	ENSP00000363152:G398R;ENSP00000419591:G406R;ENSP00000350195:G406R	ENSP00000350195:G406R	G	-	1	0	MAP3K6	27561758	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.979000	0.76154	2.384000	0.81235	0.650000	0.86243	GGG		0.597	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672	
CD164L2	388611	broad.mit.edu	37	1	27709056	27709056	+	Missense_Mutation	SNP	C	C	T	rs558677751		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:27709056C>T	ENST00000374030.1	-	2	330	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	CD164L2_ENST00000374025.3_Missense_Mutation_p.V64M|CD164L2_ENST00000374027.3_Missense_Mutation_p.V64M			Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	64						integral component of membrane (GO:0016021)		p.V64M(2)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTCCCTCCACGCAGTGCTCA	0.632																																					p.V64M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G190A	1						.						52.0	53.0	53.0					1																	27709056		2203	4300	6503	27581643	SO:0001583	missense	388611	exon2			AY358761	CCDS302.1	1p36.11	2008-02-05			ENSG00000174950	ENSG00000174950			32043	protein-coding gene	gene with protein product							Standard	XM_005245868		Approved		uc001boc.3	Q6UWJ8	OTTHUMG00000003395	ENST00000374030.1:c.190G>A	1.37:g.27709056C>T	ENSP00000363142:p.Val64Met	Somatic		Capture	Illumina HiSeq	Phase_I	27581643	NM_207397	B2RPJ0|Q5JXD6	Missense_Mutation	SNP	ENST00000374030.1	37		.	.	.	.	.	.	.	.	.	.	C	17.56	3.421133	0.62622	.	.	ENSG00000174950	ENST00000374030;ENST00000374027;ENST00000374025	T;T;T	0.53857	0.6;0.6;0.6	4.64	4.64	0.57946	.	0.000000	0.42548	D	0.000696	T	0.70675	0.3251	M	0.75264	2.295	0.33922	D	0.641042	D	0.89917	1.0	D	0.87578	0.998	T	0.80520	-0.1346	10	0.87932	D	0	-11.0143	12.8783	0.58001	0.0:1.0:0.0:0.0	.	64	Q6UWJ8	C16L2_HUMAN	M	64	ENSP00000363142:V64M;ENSP00000363139:V64M;ENSP00000363137:V64M	ENSP00000363137:V64M	V	-	1	0	CD164L2	27581643	0.999000	0.42202	0.990000	0.47175	0.512000	0.34134	0.615000	0.24329	2.427000	0.82271	0.555000	0.69702	GTG		0.632	CD164L2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009518.1	NM_207397	
MECR	51102	broad.mit.edu	37	1	29533344	29533344	+	Silent	SNP	G	G	A	rs148198912	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:29533344G>A	ENST00000263702.6	-	4	505	c.480C>T	c.(478-480)agC>agT	p.S160S	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Silent_p.S84S			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)	p.S160S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GGGTGGCAGCGCTCTGAAGAG	0.582													G|||	3	0.000599042	0.0	0.0043	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0				p.S84S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252T	1						.	G	,	1,4405	2.1+/-5.4	0,1,2202	138.0	114.0	122.0		252,480	-6.9	0.7	1	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MECR	NM_001024732.1,NM_016011.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	84/298,160/374	29533344	1,13005	2203	4300	6503	29405931	SO:0001819	synonymous_variant	51102	exon4				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.480C>T	1.37:g.29533344G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29405931	NM_001024732	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Silent	SNP	ENST00000263702.6	37	CCDS30659.1																																																																																				0.582	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011	
TSSK3	81629	broad.mit.edu	37	1	32829418	32829418	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:32829418G>A	ENST00000373534.3	+	2	873	c.368G>A	c.(367-369)cGc>cAc	p.R123H	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R123H(1)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GAGGCCATCCGCTACTGCCAT	0.597																																					p.R123H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	1						.						69.0	62.0	65.0					1																	32829418		2203	4300	6503	32602005	SO:0001583	missense	81629	exon2			AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.368G>A	1.37:g.32829418G>A	ENSP00000362634:p.Arg123His	Somatic		Capture	Illumina HiSeq	Phase_I	32602005	NM_052841	Q5TEE5	Missense_Mutation	SNP	ENST00000373534.3	37	CCDS362.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035806	0.35893	.	.	ENSG00000162526	ENST00000373534	T	0.65916	-0.18	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097175	0.47852	D	0.000214	T	0.40956	0.1138	N	0.11255	0.115	0.80722	D	1	B	0.28900	0.227	B	0.21917	0.037	T	0.34976	-0.9807	10	0.33940	T	0.23	.	12.59	0.56437	0.0809:0.0:0.9191:0.0	.	123	Q96PN8	TSSK3_HUMAN	H	123	ENSP00000362634:R123H	ENSP00000362634:R123H	R	+	2	0	TSSK3	32602005	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.045000	0.12003	2.721000	0.93114	0.655000	0.94253	CGC		0.597	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1		
THRAP3	9967	broad.mit.edu	37	1	36752132	36752132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:36752132C>T	ENST00000354618.5	+	4	525	c.301C>T	c.(301-303)Cga>Tga	p.R101*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.R101*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	101	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R101*(2)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAATATAACCGAGGAGGCTA	0.502			T	USP6	aneurysmal bone cysts																																p.R101X	Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C301T	1						.						100.0	101.0	101.0					1																	36752132		2203	4300	6503	36524719	SO:0001587	stop_gained	9967	exon4			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.301C>T	1.37:g.36752132C>T	ENSP00000346634:p.Arg101*	Somatic		Capture	Illumina HiSeq	Phase_I	36524719	NM_005119	D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699752	0.96802	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.51	4.59	0.56863	.	0.000000	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5774	14.3908	0.66978	0.2664:0.7336:0.0:0.0	.	.	.	.	X	101	.	ENSP00000346634:R101X	R	+	1	2	THRAP3	36524719	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.613000	0.36900	1.427000	0.47276	0.655000	0.94253	CGA		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
THRAP3	9967	broad.mit.edu	37	1	36769491	36769491	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:36769491G>A	ENST00000354618.5	+	12	2965	c.2741G>A	c.(2740-2742)cGg>cAg	p.R914Q	SH3D21_ENST00000426732.2_5'Flank|SH3D21_ENST00000453908.2_5'Flank|THRAP3_ENST00000469141.2_Missense_Mutation_p.R914Q	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	914	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R914Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATGTTCCGGAAATCAAGT	0.607			T	USP6	aneurysmal bone cysts																																p.R914Q	Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2741A	1						.						53.0	56.0	55.0					1																	36769491		2203	4300	6503	36542078	SO:0001583	missense	9967	exon12			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2741G>A	1.37:g.36769491G>A	ENSP00000346634:p.Arg914Gln	Somatic		Capture	Illumina HiSeq	Phase_I	36542078	NM_005119	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884407	0.72410	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15372	2.43;2.43	4.85	3.93	0.45458	.	0.000000	0.64402	D	0.000017	T	0.13243	0.0321	L	0.34521	1.04	0.58432	D	0.999994	P	0.42357	0.777	B	0.36666	0.23	T	0.03619	-1.1019	10	0.72032	D	0.01	-5.2479	12.4114	0.55469	0.0824:0.0:0.9176:0.0	.	914	Q9Y2W1	TR150_HUMAN	Q	914	ENSP00000346634:R914Q;ENSP00000433825:R914Q	ENSP00000346634:R914Q	R	+	2	0	THRAP3	36542078	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.045000	0.71020	1.171000	0.42768	0.563000	0.77884	CGG		0.607	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
GRIK3	2899	broad.mit.edu	37	1	37267646	37267646	+	Splice_Site	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:37267646G>A	ENST00000373091.3	-	16	2582	c.2566C>T	c.(2566-2568)Cgt>Tgt	p.R856C		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	856					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R856C(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CAGAAGGAACGCTGCAGGAGG	0.592																																					p.R856C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2566T	1						.						49.0	48.0	48.0					1																	37267646		2203	4300	6503	37040233	SO:0001630	splice_region_variant	2899	exon16			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2566-1C>T	1.37:g.37267646G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37040233	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	9.362	1.068242	0.20067	.	.	ENSG00000163873	ENST00000373091	T	0.12361	2.69	4.96	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	L	0.42245	1.32	0.80722	D	1	B	0.17667	0.023	B	0.10450	0.005	T	0.03374	-1.1043	10	0.42905	T	0.14	.	14.6153	0.68544	0.0:0.0:0.8532:0.1468	.	856	Q13003	GRIK3_HUMAN	C	856	ENSP00000362183:R856C	ENSP00000362183:R856C	R	-	1	0	GRIK3	37040233	1.000000	0.71417	0.993000	0.49108	0.153000	0.21895	3.546000	0.53656	1.264000	0.44198	0.643000	0.83706	CGT		0.592	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	Missense_Mutation
RIMS3	9783	broad.mit.edu	37	1	41107543	41107543	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:41107543G>A	ENST00000372684.3	-	3	524	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	RIMS3_ENST00000372683.1_Missense_Mutation_p.R19W	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	19					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.R19W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CTGGAGCTCCGCACCACATTC	0.667																																					p.R19W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55T	1						.						37.0	38.0	38.0					1																	41107543		2203	4300	6503	40880130	SO:0001583	missense	9783	exon3			BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.55C>T	1.37:g.41107543G>A	ENSP00000361769:p.Arg19Trp	Somatic		Capture	Illumina HiSeq	Phase_I	40880130	NM_014747	D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904723	0.72868	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.43294	0.95;0.95	5.35	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.54323	1.7	0.58432	D	0.999997	D	0.69078	0.997	P	0.53593	0.73	T	0.51498	-0.8698	10	0.87932	D	0	-23.9834	10.9192	0.47154	0.0:0.0:0.5671:0.4329	.	19	Q9UJD0	RIMS3_HUMAN	W	19	ENSP00000361769:R19W;ENSP00000361768:R19W	ENSP00000361768:R19W	R	-	1	2	RIMS3	40880130	0.999000	0.42202	0.991000	0.47740	0.977000	0.68977	2.282000	0.43461	1.036000	0.39998	0.655000	0.94253	CGG		0.667	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747	
SZT2	23334	broad.mit.edu	37	1	43900106	43900106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:43900106C>T	ENST00000562955.1	+	40	5683	c.5683C>T	c.(5683-5685)Cag>Tag	p.Q1895*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.Q1053*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1952					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)		p.Q1053*(2)		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						TCGCCACCTGCAGCAGCTCCT	0.597																																					p.Q1053X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3157T	1						.						28.0	26.0	26.0					1																	43900106		2203	4298	6501	43672693	SO:0001587	stop_gained	23334	exon26			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.5683C>T	1.37:g.43900106C>T	ENSP00000457168:p.Gln1895*	Somatic		Capture	Illumina HiSeq	Phase_I	43672693	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	46	12.394090	0.99663	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.97	5.97	0.96955	.	0.110698	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	16.0536	0.80779	0.1421:0.8579:0.0:0.0	.	.	.	.	X	1053	.	ENSP00000361519:Q1053X	Q	+	1	0	SZT2	43672693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.238000	0.65366	2.837000	0.97791	0.655000	0.94253	CAG		0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
PTCH2	8643	broad.mit.edu	37	1	45307581	45307581	+	Missense_Mutation	SNP	G	G	T	rs376362870		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:45307581G>T	ENST00000372192.3	-	2	333	c.203C>A	c.(202-204)gCc>gAc	p.A68D	PTCH2_ENST00000447098.2_Missense_Mutation_p.A68D	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	68					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.A68D(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TAATGCCAGGGCCCCAAAGGC	0.537									Basal Cell Nevus syndrome																												p.A68D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203A	1						.	G	ASP/ALA,ASP/ALA	0,4406		0,0,2203	111.0	107.0	108.0		203,203	4.5	1.0	1		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTCH2	NM_001166292.1,NM_003738.4	126,126	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	68/1147,68/1204	45307581	1,13005	2203	4300	6503	45080168	SO:0001583	missense	8643	exon2	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.203C>A	1.37:g.45307581G>T	ENSP00000361266:p.Ala68Asp	Somatic		Capture	Illumina HiSeq	Phase_I	45080168	NM_001166292	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551962	0.86127	0.0	1.16E-4	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.83992	-1.79;-1.79	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000227	D	0.90150	0.6922	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91235	0.5017	10	0.66056	D	0.02	0.121	16.0996	0.81163	0.0:0.0:1.0:0.0	.	68	Q9Y6C5	PTC2_HUMAN	D	68	ENSP00000389703:A68D;ENSP00000361266:A68D	ENSP00000361266:A68D	A	-	2	0	PTCH2	45080168	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.941000	0.92964	2.325000	0.78763	0.561000	0.74099	GCC		0.537	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	
CYP4A22	284541	broad.mit.edu	37	1	47606593	47606593	+	Splice_Site	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:47606593G>T	ENST00000371891.3	+	2	368	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	CYP4A22_ENST00000294337.3_Splice_Site_p.D113Y|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Splice_Site_p.D113Y	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	113						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.D113Y(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGGAGATCAGGTGAGATCGA	0.483																																					p.D113Y	Pancreas(88;1240 1470 2099 14214 37557)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337T	1						.						138.0	122.0	127.0					1																	47606593		2203	4300	6503	47379180	SO:0001630	splice_region_variant	284541	exon2				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.337+1G>T	1.37:g.47606593G>T		Somatic		Capture	Illumina HiSeq	Phase_I	47379180	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	18.81	3.703199	0.68501	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.69040	-0.37;-0.37;-0.37	1.36	1.36	0.22044	.	8.001050	0.00166	N	0.000001	D	0.83677	0.5306	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.987	T	0.71461	-0.4586	10	0.87932	D	0	.	10.2886	0.43581	0.0:0.0:1.0:0.0	.	113;113	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	Y	113	ENSP00000360957:D113Y;ENSP00000360958:D113Y;ENSP00000294337:D113Y	ENSP00000294337:D113Y	D	+	1	0	CYP4A22	47379180	1.000000	0.71417	0.993000	0.49108	0.801000	0.45260	4.805000	0.62561	1.072000	0.40860	0.436000	0.28706	GAC		0.483	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213	Missense_Mutation
ZFYVE9	9372	broad.mit.edu	37	1	52704076	52704076	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:52704076T>C	ENST00000371591.1	+	3	1118	c.987T>C	c.(985-987)acT>acC	p.T329T	ZFYVE9_ENST00000357206.2_Silent_p.T329T|ZFYVE9_ENST00000287727.3_Silent_p.T329T	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	329					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.T329T(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGAGCACCACTGAAGAATCCC	0.468																																					p.T329T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T987C	1						.						88.0	86.0	86.0					1																	52704076		2203	4300	6503	52476664	SO:0001819	synonymous_variant	9372	exon4			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.987T>C	1.37:g.52704076T>C		Somatic		Capture	Illumina HiSeq	Phase_I	52476664	NM_007324	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	CCDS563.1																																																																																				0.468	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
ZCCHC11	23318	broad.mit.edu	37	1	52991592	52991592	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:52991592C>T	ENST00000371544.3	-	2	623	c.361G>A	c.(361-363)Gca>Aca	p.A121T	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.A121T|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.A121T	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	121					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.A121T(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAACTGGTTGCCTTTTCTGAT	0.388																																					p.A121T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	1						.						166.0	163.0	164.0					1																	52991592		2203	4300	6503	52764180	SO:0001583	missense	23318	exon2			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.361G>A	1.37:g.52991592C>T	ENSP00000360599:p.Ala121Thr	Somatic		Capture	Illumina HiSeq	Phase_I	52764180	NM_001009881	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.551334	0.00918	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	T;T;T	0.47528	0.88;0.89;0.84	4.78	-3.23	0.05109	.	1.961370	0.02089	N	0.052965	T	0.28366	0.0701	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.0	T	0.08186	-1.0734	10	0.06757	T	0.87	.	0.1998	0.00144	0.2943:0.1755:0.1759:0.3543	.	121;121;121;121	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	T	121	ENSP00000257177:A121T;ENSP00000360599:A121T;ENSP00000433486:A121T	ENSP00000257177:A121T	A	-	1	0	ZCCHC11	52764180	0.004000	0.15560	0.067000	0.19924	0.364000	0.29643	-0.202000	0.09451	-0.320000	0.08640	-0.466000	0.05196	GCA		0.388	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
SLC1A7	6512	broad.mit.edu	37	1	53556441	53556441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:53556441C>A	ENST00000371494.4	-	8	1196	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	357					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.E357*(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TGGTTGTTCTCCAGCAGGCAC	0.647																																					p.E357X	NSCLC(128;80 1811 21245 38490 51715)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1069T	1						.						104.0	76.0	85.0					1																	53556441		2203	4300	6503	53329029	SO:0001587	stop_gained	6512	exon8			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1069G>T	1.37:g.53556441C>A	ENSP00000360549:p.Glu357*	Somatic		Capture	Illumina HiSeq	Phase_I	53329029	NM_006671	Q5VVZ0|Q969Z8|Q9BW45	Nonsense_Mutation	SNP	ENST00000371494.4	37	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	39	7.442075	0.98286	.	.	ENSG00000162383	ENST00000371494	.	.	.	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.145	13.9422	0.64062	0.0:0.9265:0.0:0.0735	.	.	.	.	X	357	.	ENSP00000360549:E357X	E	-	1	0	SLC1A7	53329029	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.818000	0.86416	1.263000	0.44181	0.313000	0.20887	GAG		0.647	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	
C1orf177	163747	broad.mit.edu	37	1	55279508	55279508	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:55279508A>T	ENST00000371273.3	+	7	799	c.784A>T	c.(784-786)Atg>Ttg	p.M262L	C1orf177_ENST00000358193.3_Missense_Mutation_p.M262L	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	262								p.M262L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CAGGGAACTGATGAATTTCAA	0.423																																					p.M262L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A784T	1						.						68.0	76.0	73.0					1																	55279508		2203	4300	6503	55052096	SO:0001583	missense	163747	exon7			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.784A>T	1.37:g.55279508A>T	ENSP00000360320:p.Met262Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55052096	NM_001110533	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	A	5.693	0.312503	0.10789	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.22336	1.96;1.96	4.81	-0.619	0.11572	.	1.292450	0.04753	N	0.424958	T	0.15652	0.0377	L	0.40543	1.245	0.09310	N	1	B;B	0.20780	0.048;0.048	B;B	0.19391	0.025;0.025	T	0.28650	-1.0037	10	0.29301	T	0.29	-6.2564	2.5718	0.04797	0.414:0.0:0.2067:0.3793	.	262;262	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	L	262	ENSP00000350924:M262L;ENSP00000360320:M262L	ENSP00000350924:M262L	M	+	1	0	C1orf177	55052096	0.243000	0.23878	0.030000	0.17652	0.739000	0.42172	0.665000	0.25083	0.041000	0.15688	0.374000	0.22700	ATG		0.423	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
JAK1	3716	broad.mit.edu	37	1	65316529	65316529	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:65316529G>A	ENST00000342505.4	-	12	1961	c.1713C>T	c.(1711-1713)agC>agT	p.S571S	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	571					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S571S(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AACTCAGCTGGCTCATGGGGT	0.592			Mis		ALL																																p.S571S			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1713T	1						.						42.0	46.0	45.0					1																	65316529		1978	4173	6151	65089117	SO:0001819	synonymous_variant	3716	exon12			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1713C>T	1.37:g.65316529G>A		Somatic		Capture	Illumina HiSeq	Phase_I	65089117	NM_002227	Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	CCDS41346.1																																																																																				0.592	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
SLC44A5	204962	broad.mit.edu	37	1	75805276	75805276	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:75805276A>T	ENST00000535611.1	-	0	93				SLC44A5_ENST00000370855.5_Missense_Mutation_p.V31D|SLC44A5_ENST00000370859.3_Missense_Mutation_p.V31D|SLC44A5_ENST00000469525.1_5'UTR			Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V31D(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCTGTTGGCAACAGGCCCCTT	0.373																																					p.V31D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T92A	1						.						208.0	231.0	223.0					1																	75805276		2203	4300	6503	75577864			204962	exon4			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000535611.1:c.-214T>A	1.37:g.75805276A>T		Somatic		Capture	Illumina HiSeq	Phase_I	75577864	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000535611.1	37		.	.	.	.	.	.	.	.	.	.	A	11.29	1.594952	0.28445	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.19938	2.11;2.11	5.54	4.42	0.53409	.	0.437004	0.24280	N	0.039901	T	0.19927	0.0479	L	0.54323	1.7	0.80722	D	1	P;P;P;D	0.55800	0.819;0.819;0.709;0.973	P;B;P;P	0.56514	0.541;0.434;0.541;0.8	T	0.02257	-1.1187	10	0.62326	D	0.03	-2.6682	7.7185	0.28719	0.903:0.0:0.097:0.0	.	25;70;31;31	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2	.;.;CTL5_HUMAN;.	D	31;70;31;24	ENSP00000359896:V31D;ENSP00000359892:V31D	ENSP00000359892:V31D	V	-	2	0	SLC44A5	75577864	0.471000	0.25862	0.369000	0.25952	0.452000	0.32318	2.230000	0.42999	1.061000	0.40601	0.528000	0.53228	GTT		0.373	SLC44A5-201	KNOWN	basic	protein_coding	protein_coding		NM_152697	
LMO4	8543	broad.mit.edu	37	1	87805291	87805291	+	Silent	SNP	G	G	A	rs146253698		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:87805291G>A	ENST00000370544.5	+	3	1089	c.309G>A	c.(307-309)gcG>gcA	p.A103A	LMO4_ENST00000370542.1_Silent_p.A103A|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	103	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A103A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TCATGAGGGCGCAAGGCAATG	0.418																																					p.A103A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G309A	1						.						98.0	96.0	97.0					1																	87805291		2203	4300	6503	87577879	SO:0001819	synonymous_variant	8543	exon3			U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.309G>A	1.37:g.87805291G>A		Somatic		Capture	Illumina HiSeq	Phase_I	87577879	NM_006769	D3DT23|O00158|O88894	Silent	SNP	ENST00000370544.5	37	CCDS713.1																																																																																				0.418	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769	
GBP4	115361	broad.mit.edu	37	1	89656952	89656952	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:89656952G>C	ENST00000355754.6	-	6	1005	c.908C>G	c.(907-909)aCt>aGt	p.T303S		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	303	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T303S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ACGCTTTCCAGTGACAATGAT	0.408																																					p.T303S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C908G	1						.						124.0	131.0	129.0					1																	89656952		2203	4300	6503	89429540	SO:0001583	missense	115361	exon6			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.908C>G	1.37:g.89656952G>C	ENSP00000359490:p.Thr303Ser	Somatic		Capture	Illumina HiSeq	Phase_I	89429540	NM_052941	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893625	0.33442	.	.	ENSG00000162654	ENST00000355754	T	0.66638	-0.22	5.28	2.02	0.26589	Guanylate-binding protein, C-terminal (3);	0.355002	0.28549	N	0.014942	T	0.62036	0.2395	M	0.90369	3.11	0.26103	N	0.980798	P	0.41159	0.74	P	0.46339	0.513	T	0.56553	-0.7960	10	0.39692	T	0.17	.	9.0374	0.36296	0.0:0.1365:0.5665:0.297	.	303	Q96PP9	GBP4_HUMAN	S	303	ENSP00000359490:T303S	ENSP00000359490:T303S	T	-	2	0	GBP4	89429540	1.000000	0.71417	0.775000	0.31657	0.011000	0.07611	0.575000	0.23729	0.812000	0.34326	0.655000	0.94253	ACT		0.408	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941	
ARHGAP29	9411	broad.mit.edu	37	1	94639633	94639633	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:94639633C>A	ENST00000260526.6	-	23	3760	c.3578G>T	c.(3577-3579)gGc>gTc	p.G1193V	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1193					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.G1193V(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTGATCTGTGCCAGGAGGCAC	0.517																																					p.G1193V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3578T	1						.						83.0	73.0	76.0					1																	94639633		2203	4300	6503	94412221	SO:0001583	missense	9411	exon23				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3578G>T	1.37:g.94639633C>A	ENSP00000260526:p.Gly1193Val	Somatic		Capture	Illumina HiSeq	Phase_I	94412221	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284550	0.23392	.	.	ENSG00000137962	ENST00000260526	T	0.21543	2.0	5.49	2.36	0.29203	.	0.618350	0.13487	N	0.384252	T	0.02012	0.0063	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.45145	-0.9281	10	0.23302	T	0.38	0.0432	2.6506	0.04998	0.1578:0.541:0.1429:0.1582	.	1193	Q52LW3	RHG29_HUMAN	V	1193	ENSP00000260526:G1193V	ENSP00000260526:G1193V	G	-	2	0	ARHGAP29	94412221	0.013000	0.17824	0.002000	0.10522	0.244000	0.25665	0.862000	0.27899	0.655000	0.30866	0.591000	0.81541	GGC		0.517	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
RBM15	64783	broad.mit.edu	37	1	110884751	110884751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:110884751delG	ENST00000369784.3	+	1	3624	c.2724delG	c.(2722-2724)gtgfs	p.V908fs	RBM15_ENST00000487146.2_Frame_Shift_Del_p.V908fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.V908fs|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	908	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G910fs*41(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTCCCTGTGGGGGGCAACA	0.557			T	MKL1	acute megakaryocytic leukemia																																p.V908fs			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2724delG	1						.						76.0	80.0	78.0					1																	110884751		2203	4300	6503	110686274	SO:0001589	frameshift_variant	64783	exon1			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2724delG	1.37:g.110884751delG	ENSP00000358799:p.Val908fs	Somatic		Capture	Illumina HiSeq	Phase_I	110686274	NM_022768	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	CCDS822.1																																																																																				0.557	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768	
FAM163A	148753	broad.mit.edu	37	1	179783213	179783213	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:179783213delG	ENST00000341785.4	+	5	789	c.393delG	c.(391-393)gagfs	p.E131fs	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	131						integral component of membrane (GO:0016021)		p.G133fs*15(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						ACTACAAAGAGGGGGGACCCC	0.592																																					p.E131fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.393delG	1						.						64.0	69.0	67.0					1																	179783213		2203	4300	6503	178049836	SO:0001589	frameshift_variant	148753	exon5			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.393delG	1.37:g.179783213delG	ENSP00000354891:p.Glu131fs	Somatic		Capture	Illumina HiSeq	Phase_I	178049836	NM_173509	A8K8R7	Frame_Shift_Del	DEL	ENST00000341785.4	37	CCDS1333.1																																																																																				0.592	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509	
CEP350	9857	broad.mit.edu	37	1	180053254	180053254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:180053254delA	ENST00000367607.3	+	31	6644	c.6226delA	c.(6226-6228)aaafs	p.K2077fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2077					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R2078fs*6(2)		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						GAAGGAACAGAAAAAAAGGCA	0.423																																					p.K2076fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.6226delA	1						.						76.0	72.0	73.0					1																	180053254		2203	4300	6503	178319877	SO:0001589	frameshift_variant	9857	exon31			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.6226delA	1.37:g.180053254delA	ENSP00000356579:p.Lys2077fs	Somatic		Capture	Illumina HiSeq	Phase_I	178319877	NM_014810	O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	ENST00000367607.3	37	CCDS1336.1																																																																																				0.423	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
PPP1R12B	4660	broad.mit.edu	37	1	202407190	202407190	+	Intron	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:202407190delT	ENST00000608999.1	+	10	1611				RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000480184.1_Frame_Shift_Del_p.V499fs|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAAGGCAGTTTTTTTTTTC	0.388																																					p.V499fs												.	.	0			c.1496delT	1						.		,,	92,128,3982		2,0,88,2,124,1885	28.0	30.0	30.0		,,	1.9	0.0	1		31	174,230,7838		0,1,173,13,203,3731	no	intron,utr-3,codingComplex	PPP1R12B	NM_002481.3,NM_001167858.1,NM_001167857.1	,,	2,1,261,15,327,5616	A1A1,A1A2,A1R,A2A2,A2R,RR		4.9017,5.2356,5.0145	,,	,,	202407190	266,358,11820	2202	4300	6502	200673813	SO:0001627	intron_variant	4660	exon10			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+38T>-	1.37:g.202407190delT		Somatic		Capture	Illumina HiSeq	Phase_I	200673813	NM_001167857	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Del	DEL	ENST00000608999.1	37	CCDS1426.1																																																																																				0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:204228411delC	ENST00000272203.3	-	8	1298	c.982delG	c.(982-984)gtafs	p.V328fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	328	Pro-rich.							p.V328fs*172(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622																																					p.V328fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.982delG	1						.						43.0	47.0	46.0					1																	204228411		2203	4300	6503	202495034	SO:0001589	frameshift_variant	22874	exon8			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.982delG	1.37:g.204228411delC	ENSP00000272203:p.Val328fs	Somatic		Capture	Illumina HiSeq	Phase_I	202495034	NM_014935	A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	CCDS1444.1																																																																																				0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
HLX	3142	broad.mit.edu	37	1	221057859	221057861	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	GCG	GCG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:221057859_221057861delGCG	ENST00000366903.6	+	4	2781_2783	c.1280_1282delGCG	c.(1279-1284)agcggc>agc	p.G431del	HLX_ENST00000549319.1_In_Frame_Del_p.G217del	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	431	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G431delG(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ggtgggagcagcggcggcggcgg	0.64																																					p.427_428del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1280_1282del	1						.																																			219124484	SO:0001651	inframe_deletion	3142	exon4			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1280_1282delGCG	1.37:g.221057868_221057870delGCG	ENSP00000355870:p.Gly431del	Somatic		Capture	Illumina HiSeq	Phase_I	219124482	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	In_Frame_Del	DEL	ENST00000366903.6	37	CCDS1527.1																																																																																				0.640	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
CHRM3	1131	broad.mit.edu	37	1	240072444	240072444	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:240072444delA	ENST00000255380.4	+	5	2472	c.1693delA	c.(1693-1695)aaafs	p.K567fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	567					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAGTGTGACAAAAAAAAGAG	0.502																																					p.K565fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|breast(1)	c.1693delA	1						.						49.0	49.0	49.0					1																	240072444		2203	4300	6503	238139067	SO:0001589	frameshift_variant	1131	exon5			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1693delA	1.37:g.240072444delA	ENSP00000255380:p.Lys567fs	Somatic		Capture	Illumina HiSeq	Phase_I	238139067	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Frame_Shift_Del	DEL	ENST00000255380.4	37	CCDS1616.1																																																																																				0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
OR11L1	391189	broad.mit.edu	37	1	248004652	248004652	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:248004652G>A	ENST00000355784.2	-	1	602	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	183						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCATGAGTGGCGGGAGGTCG	0.507																																					p.P183S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547T	1						.						91.0	96.0	94.0					1																	248004652		2203	4300	6503	246071275	SO:0001583	missense	391189	exon1			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.547C>T	1.37:g.248004652G>A	ENSP00000348033:p.Pro183Ser	Somatic		Capture	Illumina HiSeq	Phase_I	246071275	NM_001001959		Missense_Mutation	SNP	ENST00000355784.2	37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893787	0.33442	.	.	ENSG00000197591	ENST00000355784	T	0.00202	8.56	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.216741	0.23178	U	0.051056	T	0.00496	0.0016	L	0.58810	1.83	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.59209	-0.7497	10	0.72032	D	0.01	.	16.8516	0.85995	0.0:0.0:1.0:0.0	.	183	Q8NGX0	O11L1_HUMAN	S	183	ENSP00000348033:P183S	ENSP00000348033:P183S	P	-	1	0	OR11L1	246071275	0.764000	0.28473	0.168000	0.22838	0.466000	0.32739	1.117000	0.31234	2.373000	0.80994	0.543000	0.68304	CCA		0.507	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959	
OR14I1	401994	broad.mit.edu	37	1	248845605	248845605	+	Start_Codon_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:248845605delT	ENST00000342623.3	-	0	24					NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.?(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGATTGTCCATTTGGCAGGGA	0.413																																					p.M1fs												.	.	1	Unknown(1)	large_intestine(1)	c.1delA	1						.						34.0	34.0	34.0					1																	248845605		2203	4300	6503	246912228	SO:0001582	initiator_codon_variant	401994	exon1				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378		1.37:g.248845605delT		Somatic		Capture	Illumina HiSeq	Phase_I	246912228	NM_001004734		Frame_Shift_Del	DEL	ENST00000342623.3	37	CCDS31125.1																																																																																				0.413	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734	
RLF	6018	broad.mit.edu	37	1	40697246	40697246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:40697246delT	ENST00000372771.4	+	7	1032	c.1005delT	c.(1003-1005)actfs	p.T335fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	335					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|zinc ion binding (GO:0008270)	p.L337fs*10(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTTTAGATACTTTTTTGGAGC	0.358																																					p.T335fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1005delT	1						.						109.0	108.0	108.0					1																	40697246		2203	4300	6503	40469833	SO:0001589	frameshift_variant	6018	exon7				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1005delT	1.37:g.40697246delT	ENSP00000361857:p.Thr335fs	Somatic		Capture	Illumina HiSeq	Phase_I	40469833	NM_012421	Q14CQ1|Q9NU60	Frame_Shift_Del	DEL	ENST00000372771.4	37	CCDS448.1																																																																																				0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RPL22	6146	broad.mit.edu	37	1	6246852	6246852	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:6246852delT	ENST00000234875.4	-	4	305	c.267delA	c.(265-267)aaafs	p.K89fs	RPL22_ENST00000497965.1_Frame_Shift_Del_p.K56fs|RPL22_ENST00000484532.1_Intron	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	89					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K89fs*3(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TCTTCAAATATTTTTTGGTGA	0.368			T	RUNX1	"""AML, CML"""																																p.K89fs			Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.267delA	1						.						38.0	39.0	39.0					1																	6246852		2202	4300	6502	6169439	SO:0001589	frameshift_variant	6146	exon4			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.267delA	1.37:g.6246852delT	ENSP00000346088:p.Lys89fs	Somatic		Capture	Illumina HiSeq	Phase_I	6169439	NM_000983	B2R495|Q6IBD1	Frame_Shift_Del	DEL	ENST00000234875.4	37	CCDS58.1																																																																																				0.368	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983	
LHX8	431707	broad.mit.edu	37	1	75608934	75608935	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:75608934_75608935delGA	ENST00000294638.5	+	6	1185_1186	c.521_522delGA	c.(520-522)ggafs	p.G174fs	LHX8_ENST00000356261.3_Frame_Shift_Del_p.G164fs	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	174	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E175fs*16(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTTTCCACAGGAGAGGAGTTTG	0.436																																					p.174_174del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.521_522del	1						.																																			75381523	SO:0001589	frameshift_variant	431707	exon6			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.521_522delGA	1.37:g.75608936_75608937delGA	ENSP00000294638:p.Gly174fs	Somatic		Capture	Illumina HiSeq	Phase_I	75381522	NM_001001933	E9PGE3	Frame_Shift_Del	DEL	ENST00000294638.5	37	CCDS30756.1																																																																																				0.436	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
ZNF644	84146	broad.mit.edu	37	1	91406332	91406332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr1:91406332delT	ENST00000370440.1	-	3	796	c.579delA	c.(577-579)aaafs	p.K193fs	ZNF644_ENST00000337393.5_Frame_Shift_Del_p.K193fs|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	193					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.K193fs*16(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGGTAGGTAGTTTTTTATTGG	0.388																																					p.K193fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.579delA	1						.						134.0	139.0	137.0					1																	91406332		2203	4299	6502	91178920	SO:0001589	frameshift_variant	84146	exon3			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.579delA	1.37:g.91406332delT	ENSP00000359469:p.Lys193fs	Somatic		Capture	Illumina HiSeq	Phase_I	91178920	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Del	DEL	ENST00000370440.1	37	CCDS731.1																																																																																				0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
NECAB3	63941	broad.mit.edu	37	20	32245801	32245801	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:32245801A>G	ENST00000246190.6	-	11	1164	c.1109T>C	c.(1108-1110)aTc>aCc	p.I370T	RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Missense_Mutation_p.I336T|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	370	ABM.				protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I370T(1)		large_intestine(3)|lung(5)|skin(2)	10						GTCGATGAGGATGCGCTGGAA	0.677																																					p.I370T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1109C	20						.						30.0	42.0	38.0					20																	32245801		2098	4190	6288	31709462	SO:0001583	missense	63941	exon11			AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.1109T>C	20.37:g.32245801A>G	ENSP00000246190:p.Ile370Thr	Somatic		Capture	Illumina HiSeq	Phase_I	31709462	NM_031232	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	A	3.749	-0.051928	0.07362	.	.	ENSG00000125967	ENST00000375238;ENST00000246190	T;T	0.28454	1.61;1.61	4.55	2.18	0.27775	Dimeric alpha-beta barrel (1);	0.640606	0.16544	N	0.209787	T	0.12135	0.0295	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.13407	0.009;0.009;0.005	T	0.35822	-0.9773	10	0.07175	T	0.84	-15.4631	6.7041	0.23240	0.5664:0.0:0.4336:0.0	.	247;370;336	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	T	336;370	ENSP00000364386:I336T;ENSP00000246190:I370T	ENSP00000246190:I370T	I	-	2	0	NECAB3	31709462	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	2.583000	0.46094	0.136000	0.18733	-0.366000	0.07423	ATC		0.677	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2		
SPEF1	25876	broad.mit.edu	37	20	3759903	3759903	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:3759903C>T	ENST00000379756.3	-	3	478	c.318G>A	c.(316-318)ccG>ccA	p.P106P	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	106						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.P106P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						GCTGCCTCAGCGGGATGAGCA	0.647																																					p.P106P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G318A	20						.						16.0	19.0	18.0					20																	3759903		2113	4213	6326	3707903	SO:0001819	synonymous_variant	25876	exon3			AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"""chromosome 20 open reading frame 28"""	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.318G>A	20.37:g.3759903C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3707903	NM_015417	A5YM71|D3DVY0|Q5JX78	Silent	SNP	ENST00000379756.3	37	CCDS13063.2																																																																																				0.647	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077760.2		
SPAG4	6676	broad.mit.edu	37	20	34205089	34205089	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:34205089G>A	ENST00000374273.3	+	2	448	c.336G>A	c.(334-336)gaG>gaA	p.E112E	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	112					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.E112E(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCTCTGAGGAGCCGCTCGACC	0.647																																					p.E112E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G336A	20						.						26.0	28.0	27.0					20																	34205089		2203	4300	6503	33668503	SO:0001819	synonymous_variant	6676	exon2			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.336G>A	20.37:g.34205089G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33668503	NM_003116	O43648	Silent	SNP	ENST00000374273.3	37	CCDS13259.1																																																																																				0.647	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116	
STK4	6789	broad.mit.edu	37	20	43607105	43607105	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:43607105A>C	ENST00000372806.3	+	3	233	c.138A>C	c.(136-138)aaA>aaC	p.K46N	STK4_ENST00000396731.4_Missense_Mutation_p.K46N|STK4_ENST00000499879.2_Missense_Mutation_p.K46N|STK4_ENST00000372801.1_Missense_Mutation_p.K46N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.K46N(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GCGTATACAAAGCTATTCATA	0.383																																					p.K46N	GBM(187;1039 2137 11798 21916 33213)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A138C	20						.						67.0	68.0	67.0					20																	43607105		2203	4300	6503	43040519	SO:0001583	missense	6789	exon3				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.138A>C	20.37:g.43607105A>C	ENSP00000361892:p.Lys46Asn	Somatic		Capture	Illumina HiSeq	Phase_I	43040519	NM_006282	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082710	0.76528	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.63	2.17	0.27698	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83059	0.5172	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.83275	0.995;0.993;0.99;0.996	T	0.82188	-0.0581	10	0.87932	D	0	.	8.9392	0.35720	0.7845:0.0:0.2155:0.0	.	46;46;46;46	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	N	46	ENSP00000361892:K46N;ENSP00000379957:K46N;ENSP00000361887:K46N;ENSP00000443514:K46N	ENSP00000361887:K46N	K	+	3	2	STK4	43040519	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.777000	0.38604	0.102000	0.17638	0.533000	0.62120	AAA		0.383	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282	
ZNF334	55713	broad.mit.edu	37	20	45133276	45133276	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:45133276T>C	ENST00000347606.4	-	3	307	c.125A>G	c.(124-126)aAc>aGc	p.N42S	ZNF334_ENST00000457685.2_Missense_Mutation_p.N4S|ZNF334_ENST00000593880.1_Silent_p.E47E	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N42S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTTGCTGTAGTTCTCCAGCAT	0.463																																					p.N42S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A125G	20						.						113.0	102.0	106.0					20																	45133276		2203	4300	6503	44566683	SO:0001583	missense	55713	exon3			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.125A>G	20.37:g.45133276T>C	ENSP00000255129:p.Asn42Ser	Somatic		Capture	Illumina HiSeq	Phase_I	44566683	NM_018102	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.719872	0.30503	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.03635	5.35;3.86	2.9	-1.37	0.09056	Krueppel-associated box (4);	.	.	.	.	T	0.09024	0.0223	H	0.94222	3.51	0.09310	N	0.999991	B;B	0.17038	0.01;0.02	B;B	0.16289	0.004;0.015	T	0.27706	-1.0066	9	0.66056	D	0.02	.	4.7053	0.12846	0.0:0.122:0.3615:0.5164	.	4;42	B3KQ93;Q9HCZ1	.;ZN334_HUMAN	S	4;42	ENSP00000402582:N4S;ENSP00000255129:N42S	ENSP00000255129:N42S	N	-	2	0	ZNF334	44566683	0.473000	0.25878	0.145000	0.22337	0.930000	0.56654	-0.004000	0.12878	-0.044000	0.13491	0.482000	0.46254	AAC		0.463	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
RASSF2	9770	broad.mit.edu	37	20	4771236	4771236	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:4771236A>G	ENST00000379400.3	-	7	593	c.398T>C	c.(397-399)cTg>cCg	p.L133P	RASSF2_ENST00000379376.2_Missense_Mutation_p.L133P|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	133					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L133P(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GTCCTCCTGCAGGGGCTTCAG	0.612																																					p.L133P	Melanoma(158;1891 3343 50738)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T398C	20						.						39.0	36.0	37.0					20																	4771236		2203	4300	6503	4719236	SO:0001583	missense	9770	exon6			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.398T>C	20.37:g.4771236A>G	ENSP00000368710:p.Leu133Pro	Somatic		Capture	Illumina HiSeq	Phase_I	4719236	NM_170774	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	A	9.454	1.091381	0.20471	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.09817	2.94;2.94	5.2	5.2	0.72013	.	0.989597	0.08205	N	0.981655	T	0.12178	0.0296	L	0.40543	1.245	0.39023	D	0.959788	B	0.18863	0.031	B	0.19148	0.024	T	0.12066	-1.0562	10	0.24483	T	0.36	.	13.0729	0.59072	1.0:0.0:0.0:0.0	.	133	P50749	RASF2_HUMAN	P	133	ENSP00000368710:L133P;ENSP00000368684:L133P	ENSP00000368684:L133P	L	-	2	0	RASSF2	4719236	0.633000	0.27181	0.831000	0.32960	0.624000	0.37722	2.779000	0.47734	2.185000	0.69588	0.460000	0.39030	CTG		0.612	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	
NCOA3	8202	broad.mit.edu	37	20	46262804	46262804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:46262804G>A	ENST00000371998.3	+	10	1168	c.977G>A	c.(976-978)gGc>gAc	p.G326D	NCOA3_ENST00000371997.3_Missense_Mutation_p.G336D|NCOA3_ENST00000372004.3_Missense_Mutation_p.G326D|NCOA3_ENST00000341724.6_Missense_Mutation_p.G336D			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	326					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.G326D(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATCTTAATGGCCATGCAGAA	0.403																																					p.G326D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G977A	20						.						130.0	120.0	123.0					20																	46262804		2203	4300	6503	45696211	SO:0001583	missense	8202	exon10			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.977G>A	20.37:g.46262804G>A	ENSP00000361066:p.Gly326Asp	Somatic		Capture	Illumina HiSeq	Phase_I	45696211	NM_001174087	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085039	0.94100	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.999;0.998	D;D;D;D;D	0.97110	1.0;0.985;0.985;0.993;0.985	T	0.62310	-0.6881	10	0.87932	D	0	-18.2299	20.2576	0.98430	0.0:0.0:1.0:0.0	.	336;330;326;326;326	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	D	326;336;326;326;336;92	ENSP00000342123:G336D;ENSP00000361073:G326D;ENSP00000361066:G326D;ENSP00000361065:G336D	ENSP00000345671:G326D	G	+	2	0	NCOA3	45696211	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.869000	0.99810	2.783000	0.95769	0.655000	0.94253	GGC		0.403	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
SNAI1	6615	broad.mit.edu	37	20	48604525	48604525	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:48604525C>T	ENST00000244050.2	+	3	788	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	243	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.R243W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGCGTGTGCTCGGACCTTCTC	0.632																																					p.R243W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C727T	20						.						143.0	118.0	126.0					20																	48604525		2203	4300	6503	48037932	SO:0001583	missense	6615	exon3			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.727C>T	20.37:g.48604525C>T	ENSP00000244050:p.Arg243Trp	Somatic		Capture	Illumina HiSeq	Phase_I	48037932	NM_005985	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315653	0.60524	.	.	ENSG00000124216	ENST00000244050	T	0.19806	2.12	4.97	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.67700	2.07	0.48975	D	0.999734	D	0.89917	1.0	D	0.81914	0.995	T	0.46721	-0.9171	10	0.87932	D	0	-26.6192	14.5827	0.68302	0.1559:0.8441:0.0:0.0	.	243	O95863	SNAI1_HUMAN	W	243	ENSP00000244050:R243W	ENSP00000244050:R243W	R	+	1	2	SNAI1	48037932	0.793000	0.28825	0.028000	0.17463	0.678000	0.39670	1.560000	0.36331	1.192000	0.43071	0.462000	0.41574	CGG		0.632	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1		
UBE2V1	7335	broad.mit.edu	37	20	48699330	48699330	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:48699330G>A	ENST00000371674.3	-	4	463	c.419C>T	c.(418-420)cCc>cTc	p.P140L	UBE2V1_ENST00000415862.2_Missense_Mutation_p.P96L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.P98L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.P363L|TMEM189_ENST00000557021.1_Missense_Mutation_p.P363L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.P163L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000420027.2_Missense_Mutation_p.P96L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.P163L	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	140					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)	p.P363L(1)|p.P163L(1)		endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			CTGTCCTTCGGGCGGCTGAGG	0.428																																					p.P163L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C488T	20						.						84.0	82.0	83.0					20																	48699330		2203	4300	6503	48132737	SO:0001583	missense	387522	exon4			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.419C>T	20.37:g.48699330G>A	ENSP00000360739:p.Pro140Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48132737	NM_021988	E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435160	0.83885	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.35	5.35	0.76521	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.49916	U	0.000129	T	0.49541	0.1563	M	0.89478	3.035	0.80722	D	1	D;P;P;P	0.76494	0.999;0.719;0.712;0.777	D;P;P;P	0.65684	0.937;0.534;0.513;0.653	T	0.59332	-0.7474	10	0.87932	D	0	-8.0608	19.0759	0.93161	0.0:0.0:1.0:0.0	.	363;163;96;140	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	L	363;98;140;163;96;163;96;96;363	ENSP00000344166:P363L;ENSP00000360720:P98L;ENSP00000360739:P140L;ENSP00000340305:P163L;ENSP00000407770:P96L;ENSP00000360742:P163L;ENSP00000395264:P96L;ENSP00000450635:P363L	ENSP00000344166:P363L	P	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48132737	1.000000	0.71417	0.118000	0.21660	0.969000	0.65631	9.421000	0.97455	2.506000	0.84524	0.650000	0.86243	CCC		0.428	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988	
TSHZ2	128553	broad.mit.edu	37	20	51870840	51870840	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:51870840C>T	ENST00000371497.5	+	2	1730	c.843C>T	c.(841-843)ggC>ggT	p.G281G	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.G278G|TSHZ2_ENST00000329613.6_Silent_p.G278G	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	281					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)	p.G281G(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTTTTGTGGCGACTCCTTTG	0.443																																					p.G281G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843T	20						.						74.0	59.0	64.0					20																	51870840		2203	4300	6503	51304247	SO:0001819	synonymous_variant	128553	exon2			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.843C>T	20.37:g.51870840C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51304247	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	CCDS33490.1																																																																																				0.443	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
ZNF217	7764	broad.mit.edu	37	20	52192355	52192355	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:52192355A>G	ENST00000371471.2	-	4	3373	c.2948T>C	c.(2947-2949)gTg>gCg	p.V983A	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.V983A			O75362	ZN217_HUMAN	zinc finger protein 217	983					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V983A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AACAGTCAGCACATTTGGAGA	0.552																																					p.V983A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2948C	20						.						93.0	81.0	85.0					20																	52192355		2203	4300	6503	51625762	SO:0001583	missense	7764	exon3			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2948T>C	20.37:g.52192355A>G	ENSP00000360526:p.Val983Ala	Somatic		Capture	Illumina HiSeq	Phase_I	51625762	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646399	0.47258	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.09630	2.96;2.96	4.79	1.13	0.20643	.	1.000500	0.08067	N	0.999168	T	0.13884	0.0336	L	0.59436	1.845	0.23174	N	0.998179	D	0.56521	0.976	P	0.49085	0.6	T	0.24728	-1.0152	10	0.16896	T	0.51	-8.1002	4.4412	0.11575	0.6502:0.1676:0.1823:0.0	.	983	O75362	ZN217_HUMAN	A	983;983;71;143	ENSP00000360526:V983A;ENSP00000304308:V983A	ENSP00000304308:V983A	V	-	2	0	ZNF217	51625762	0.016000	0.18221	0.012000	0.15200	0.003000	0.03518	0.172000	0.16704	-0.081000	0.12662	-0.297000	0.09499	GTG		0.552	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
DOK5	55816	broad.mit.edu	37	20	53260091	53260091	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:53260091G>A	ENST00000262593.5	+	7	1180	c.830G>A	c.(829-831)aGc>aAc	p.S277N	DOK5_ENST00000395939.1_Missense_Mutation_p.S169N	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	277					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.S277N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CGGCAGCACAGCACGGGACAG	0.652																																					p.S277N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G830A	20						.						51.0	46.0	48.0					20																	53260091		2203	4300	6503	52693498	SO:0001583	missense	55816	exon7			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.830G>A	20.37:g.53260091G>A	ENSP00000262593:p.Ser277Asn	Somatic		Capture	Illumina HiSeq	Phase_I	52693498	NM_018431	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505732	0.85282	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.94376	-2.45;-3.41	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	N	0.12746	0.255	0.52099	D	0.999947	P;P	0.48350	0.454;0.909	B;P	0.57776	0.137;0.827	D	0.92059	0.5655	10	0.35671	T	0.21	-27.3866	18.1974	0.89828	0.0:0.0:1.0:0.0	.	169;277	Q9P104-2;Q9P104	.;DOK5_HUMAN	N	277;169	ENSP00000262593:S277N;ENSP00000379270:S169N	ENSP00000262593:S277N	S	+	2	0	DOK5	52693498	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.468000	0.73551	2.533000	0.85409	0.655000	0.94253	AGC		0.652	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2		
TCFL5	10732	broad.mit.edu	37	20	61491568	61491568	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:61491568G>A	ENST00000335351.3	-	2	832	c.740C>T	c.(739-741)gCg>gTg	p.A247V	TCFL5_ENST00000217162.5_Missense_Mutation_p.A199V	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	247					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A247V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					AGTTGTAGCCGCAGTTTTATT	0.383																																					p.A247V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C740T	20						.						138.0	131.0	134.0					20																	61491568		2203	4300	6503	60962013	SO:0001583	missense	10732	exon2			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.740C>T	20.37:g.61491568G>A	ENSP00000334294:p.Ala247Val	Somatic		Capture	Illumina HiSeq	Phase_I	60962013	NM_006602	O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487594	0.64074	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.40756	1.06;1.02	4.71	3.76	0.43208	.	0.215178	0.32503	N	0.006019	T	0.37679	0.1012	L	0.34521	1.04	0.09310	N	1	P;D	0.67145	0.704;0.996	B;P	0.47786	0.083;0.557	T	0.21930	-1.0231	10	0.72032	D	0.01	-17.2131	11.3203	0.49417	0.086:0.0:0.914:0.0	.	199;247	F8W9A4;Q9UL49	.;TCFL5_HUMAN	V	247;199	ENSP00000334294:A247V;ENSP00000217162:A199V	ENSP00000217162:A199V	A	-	2	0	TCFL5	60962013	0.522000	0.26266	0.004000	0.12327	0.125000	0.20455	4.470000	0.60175	0.953000	0.37825	0.561000	0.74099	GCG		0.383	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602	
DIDO1	11083	broad.mit.edu	37	20	61513155	61513155	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:61513155A>G	ENST00000266070.4	-	16	4478	c.4153T>C	c.(4153-4155)Tac>Cac	p.Y1385H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Y1385H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1385					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y1385H(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAGGGTCGTATGGCCTGTCG	0.612																																					p.Y1385H	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4153C	20						.						89.0	99.0	95.0					20																	61513155		2203	4300	6503	60983600	SO:0001583	missense	11083	exon16			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4153T>C	20.37:g.61513155A>G	ENSP00000266070:p.Tyr1385His	Somatic		Capture	Illumina HiSeq	Phase_I	60983600	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098967	0.76870	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.34667	1.35;1.35	5.67	5.67	0.87782	.	0.000000	0.39210	N	0.001433	T	0.63177	0.2489	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.68561	-0.5376	10	0.87932	D	0	-21.3868	15.9212	0.79575	1.0:0.0:0.0:0.0	.	1385	Q9BTC0	DIDO1_HUMAN	H	1385	ENSP00000266070:Y1385H;ENSP00000378752:Y1385H	ENSP00000266070:Y1385H	Y	-	1	0	DIDO1	60983600	1.000000	0.71417	0.163000	0.22734	0.326000	0.28443	8.774000	0.91767	2.155000	0.67459	0.460000	0.39030	TAC		0.612	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
DIDO1	11083	broad.mit.edu	37	20	61538701	61538701	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr20:61538701G>A	ENST00000266070.4	-	5	1497	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	DIDO1_ENST00000354665.4_Missense_Mutation_p.A391V|DIDO1_ENST00000266071.5_Missense_Mutation_p.A391V|DIDO1_ENST00000370366.1_Missense_Mutation_p.A391V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A391V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A391V|DIDO1_ENST00000370371.4_Missense_Mutation_p.A391V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A391V|DIDO1_ENST00000370368.1_Missense_Mutation_p.A391V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	391					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A391V(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCACCAGGCGCCTCTATCAC	0.478																																					p.A391V	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1172T	20						.						69.0	76.0	73.0					20																	61538701		2203	4300	6503	61009146	SO:0001583	missense	11083	exon5			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1172C>T	20.37:g.61538701G>A	ENSP00000266070:p.Ala391Val	Somatic		Capture	Illumina HiSeq	Phase_I	61009146	NM_022105	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	9.503	1.103782	0.20632	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19250	3.03;3.03;2.67;2.67;2.16;2.16;2.16;2.17;2.17	4.96	4.96	0.65561	.	0.800340	0.10466	N	0.671342	T	0.25121	0.0610	L	0.60455	1.87	0.35271	D	0.780462	P;B;P;P	0.48589	0.773;0.33;0.912;0.84	B;B;B;B	0.39738	0.177;0.048;0.308;0.129	T	0.37776	-0.9691	10	0.48119	T	0.1	-6.4768	14.3201	0.66479	0.0:0.0:0.851:0.149	.	391;391;391;391	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	V	391	ENSP00000266070:A391V;ENSP00000378752:A391V;ENSP00000378749:A391V;ENSP00000378744:A391V;ENSP00000359397:A391V;ENSP00000359394:A391V;ENSP00000346692:A391V;ENSP00000359391:A391V;ENSP00000266071:A391V	ENSP00000266070:A391V	A	-	2	0	DIDO1	61009146	0.573000	0.26676	0.228000	0.23943	0.015000	0.08874	3.792000	0.55476	2.472000	0.83506	0.561000	0.74099	GCG		0.478	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
N6AMT1	29104	broad.mit.edu	37	21	30254540	30254540	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:30254540C>T	ENST00000303775.5	-	3	279	c.254G>A	c.(253-255)tGt>tAt	p.C85Y	N6AMT1_ENST00000351429.3_Missense_Mutation_p.C85Y	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	85					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.C85Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CTCTAGGGTACAAGCTGCTGC	0.358																																					p.C85Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G254A	21						.						101.0	95.0	97.0					21																	30254540		2203	4300	6503	29176411	SO:0001583	missense	29104	exon3			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.254G>A	21.37:g.30254540C>T	ENSP00000303584:p.Cys85Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	29176411	NM_182749	Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321490	0.81580	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.16597	2.33;2.36	5.18	5.18	0.71444	Methyltransferase small (1);	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	M	0.69358	2.11	0.58432	D	0.999995	P;P	0.43094	0.767;0.799	P;P	0.44946	0.465;0.463	T	0.01805	-1.1270	10	0.20046	T	0.44	-3.0619	17.4225	0.87518	0.0:1.0:0.0:0.0	.	85;85	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	Y	85	ENSP00000303584:C85Y;ENSP00000286764:C85Y	ENSP00000303584:C85Y	C	-	2	0	N6AMT1	29176411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.026000	0.70873	2.699000	0.92147	0.585000	0.79938	TGT		0.358	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240	
KRTAP24-1	643803	broad.mit.edu	37	21	31654987	31654987	+	Silent	SNP	C	C	T	rs372052619		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:31654987C>T	ENST00000340345.4	-	1	289	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	88						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P88P(2)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGAGTTTGACGGGTCACAAC	0.567																																					p.P88P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G264A	21						.						75.0	79.0	77.0					21																	31654987		2085	4220	6305	30576858	SO:0001819	synonymous_variant	643803	exon1			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.264G>A	21.37:g.31654987C>T		Somatic		Capture	Illumina HiSeq	Phase_I	30576858	NM_001085455	Q1XDX0	Silent	SNP	ENST00000340345.4	37	CCDS42915.1																																																																																				0.567	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455	
DOPEY2	9980	broad.mit.edu	37	21	37652644	37652644	+	Splice_Site	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:37652644A>G	ENST00000399151.3	+	31	6116	c.6031A>G	c.(6031-6033)Aac>Gac	p.N2011D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2011					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.N2011D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGATTTAATGAGTAAGTTCTG	0.328																																					p.N2011D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6031G	21						.						173.0	155.0	161.0					21																	37652644		2202	4299	6501	36574514	SO:0001630	splice_region_variant	9980	exon31			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6031+1A>G	21.37:g.37652644A>G		Somatic		Capture	Illumina HiSeq	Phase_I	36574514	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974652	0.53720	.	.	ENSG00000142197	ENST00000399151	T	0.41758	0.99	5.42	5.42	0.78866	.	0.203919	0.52532	D	0.000069	T	0.39600	0.1084	M	0.65498	2.005	0.43304	D	0.995309	B;B	0.12630	0.006;0.004	B;B	0.10450	0.005;0.003	T	0.24835	-1.0149	10	0.25751	T	0.34	-24.4005	9.9008	0.41346	0.924:0.0:0.076:0.0	.	2004;2011	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	D	2011	ENSP00000382104:N2011D	ENSP00000382104:N2011D	N	+	1	0	DOPEY2	36574514	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.904000	0.69886	2.058000	0.61347	0.533000	0.62120	AAC		0.328	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	Missense_Mutation
BRWD1	54014	broad.mit.edu	37	21	40608628	40608628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:40608628G>A	ENST00000333229.2	-	23	2986	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.R887*|BRWD1_ENST00000342449.3_Nonsense_Mutation_p.R887*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	887					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R887*(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CGAGTAATTCGTCGACGACAT	0.388																																					p.R887X	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2659T	21						.						114.0	108.0	110.0					21																	40608628		2203	4300	6503	39530498	SO:0001587	stop_gained	54014	exon23			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2659C>T	21.37:g.40608628G>A	ENSP00000330753:p.Arg887*	Somatic		Capture	Illumina HiSeq	Phase_I	39530498	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	37	6.557562	0.97663	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	.	.	.	5.56	4.6	0.57074	.	0.463445	0.19167	N	0.121047	.	.	.	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3563	11.1028	0.48186	0.0:0.0:0.5915:0.4085	.	.	.	.	X	887	.	ENSP00000330753:R887X	R	-	1	2	BRWD1	39530498	1.000000	0.71417	0.756000	0.31282	0.699000	0.40488	2.971000	0.49248	2.614000	0.88457	0.650000	0.86243	CGA		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
DSCAM	1826	broad.mit.edu	37	21	41424021	41424021	+	Silent	SNP	C	C	T	rs530348291		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:41424021C>T	ENST00000400454.1	-	30	5526	c.5049G>A	c.(5047-5049)acG>acA	p.T1683T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1683					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T1683T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAACAGAACCGTGGAGCGAT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19595	0.0		0.0	False		,,,				2504	0.001				p.T1683T	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5049A	21						.						83.0	84.0	84.0					21																	41424021		2042	4195	6237	40345891	SO:0001819	synonymous_variant	1826	exon30			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5049G>A	21.37:g.41424021C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40345891	NM_001389	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.542	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
PRDM15	63977	broad.mit.edu	37	21	43291729	43291729	+	Splice_Site	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:43291729A>G	ENST00000269844.3	-	4	525	c.415T>C	c.(415-417)Tcc>Ccc	p.S139P	PRDM15_ENST00000398548.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S139P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCAATCTGGGACCTGTAGGCC	0.537																																					p.S139P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T415C	21						.						102.0	85.0	91.0					21																	43291729		2203	4300	6503	42164798	SO:0001630	splice_region_variant	63977	exon4			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.414-1T>C	21.37:g.43291729A>G		Somatic		Capture	Illumina HiSeq	Phase_I	42164798	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	A	6.576	0.474671	0.12521	.	.	ENSG00000141956	ENST00000269844	T	0.10477	2.87	0.635	-1.27	0.09347	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	B	0.33266	0.404	B	0.18263	0.021	T	0.34950	-0.9808	8	0.87932	D	0	.	.	.	.	.	139	P57071	PRD15_HUMAN	P	139	ENSP00000269844:S139P	ENSP00000269844:S139P	S	-	1	0	PRDM15	42164798	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	-0.882000	0.04174	-0.422000	0.07405	0.260000	0.18958	TCC		0.537	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	Missense_Mutation
UMODL1	89766	broad.mit.edu	37	21	43547821	43547821	+	Silent	SNP	C	C	T	rs376777980		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:43547821C>T	ENST00000408910.2	+	20	3570	c.3570C>T	c.(3568-3570)aaC>aaT	p.N1190N	UMODL1_ENST00000400427.1_Silent_p.N1246N|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Silent_p.N1318N|UMODL1_ENST00000400424.2_Silent_p.N1118N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1190	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.N1118N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGATTGAGAACGGCAACTCCA	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20046	0.0		0.0	False		,,,				2504	0.0				p.N1246N	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3738T	21						.	C	,,,	1,4047		0,1,2023	101.0	99.0	100.0		3570,3738,3354,3954	-0.3	1.0	21		100	1,8403		0,1,4201	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	0,2,6224	TT,TC,CC		0.0119,0.0247,0.0161	,,,	1190/1319,1246/1375,1118/1247,1318/1447	43547821	2,12450	2024	4202	6226	42420890	SO:0001819	synonymous_variant	89766	exon19				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3570C>T	21.37:g.43547821C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42420890	NM_001199527	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	De_novo_Start_InFrame	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																				0.527	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
TPTE	7179	broad.mit.edu	37	21	10951282	10951282	+	Nonsense_Mutation	SNP	G	G	A	rs534971558|rs576571770	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:10951282G>A	ENST00000361285.4	-	10	759	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.R106*|TPTE_ENST00000298232.7_Nonsense_Mutation_p.R126*|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	144			R -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R126*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAAATACTCGAAGAAGAACA	0.358													.|||	3	0.000599042	0.0	0.0	5008	,	,		31177	0.0		0.0	False		,,,				2504	0.0031				p.R126X												TPTE,breast,NS,Substitution - Missense,+1 	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C376T	21						.						60.0	67.0	64.0					21																	10951282		2203	4297	6500	9973153	SO:0001587	stop_gained	7179	exon9			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.430C>T	21.37:g.10951282G>A	ENSP00000355208:p.Arg144*	Somatic		Capture	Illumina HiSeq	Phase_I	9973153	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342849	0.41498	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	.	.	.	1.8	-0.454	0.12197	.	0.161007	0.41823	U	0.000814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3682	6.0107	0.19573	0.0:0.0:0.4619:0.5381	.	.	.	.	X	126;144;106;126	.	ENSP00000298232:R126X	R	-	1	2	TPTE	9973153	0.890000	0.30428	0.115000	0.21578	0.121000	0.20230	0.944000	0.29043	-0.120000	0.11809	0.194000	0.17425	CGA		0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
ADARB1	104	broad.mit.edu	37	21	46602600	46602600	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr21:46602600C>T	ENST00000360697.3	+	4	1194	c.1179C>T	c.(1177-1179)tgC>tgT	p.C393C	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000539173.1_Silent_p.C393C|ADARB1_ENST00000348831.4_Silent_p.C393C|ADARB1_ENST00000389863.4_Silent_p.C393C			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	393	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.C393C(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TAAATGACTGCCATGCAGAAA	0.363																																					p.C393C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1179T	21						.						102.0	100.0	101.0					21																	46602600		2203	4300	6503	45427028	SO:0001819	synonymous_variant	104	exon6			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1179C>T	21.37:g.46602600C>T		Somatic		Capture	Illumina HiSeq	Phase_I	45427028	NM_015834	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	CCDS33589.1																																																																																				0.363	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833	
CACNG2	10369	broad.mit.edu	37	22	36960403	36960404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:36960403_36960404insG	ENST00000300105.6	-	4	1947_1948	c.966_967insC	c.(964-969)cccgtafs	p.V323fs	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	323					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V323fs*>2(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GGTCTTTATACGGGGGTGGTCC	0.658																																					p.V323fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.967_968insC	22						.																																			35290350	SO:0001589	frameshift_variant	10369	exon4			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.967dupC	22.37:g.36960408_36960408dupG	ENSP00000300105:p.Val323fs	Somatic		Capture	Illumina HiSeq	Phase_I	35290349	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Frame_Shift_Ins	INS	ENST00000300105.6	37	CCDS13931.1																																																																																				0.658	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		
OR11H1	81061	broad.mit.edu	37	22	16449559	16449559	+	Silent	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:16449559G>T	ENST00000252835.4	-	1	246	c.246C>A	c.(244-246)tcC>tcA	p.S82S		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S82S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TCTCTAAAAAGGAGAAATTTC	0.428																																					p.S82S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C246A	22						.						1.0	1.0	1.0					22																	16449559		131	291	422	14829559	SO:0001819	synonymous_variant	81061	exon1			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.246C>A	22.37:g.16449559G>T		Somatic		Capture	Illumina HiSeq	Phase_I	14829559	NM_001005239	Q6IEX0|Q96R32	Silent	SNP	ENST00000252835.4	37	CCDS33594.1																																																																																				0.428	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239	
CCT8L2	150160	broad.mit.edu	37	22	17072856	17072856	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:17072856G>A	ENST00000359963.3	-	1	844	c.585C>T	c.(583-585)gaC>gaT	p.D195D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	195					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.D195D(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAAGCTGCCGTCTAGTTCCT	0.617																																					p.D195D												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C585T	22						.						67.0	65.0	66.0					22																	17072856		2203	4300	6503	15452856	SO:0001819	synonymous_variant	150160	exon1			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.585C>T	22.37:g.17072856G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15452856	NM_014406	A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	CCDS13738.1																																																																																				0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
XKR3	150165	broad.mit.edu	37	22	17265116	17265116	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:17265116G>A	ENST00000331428.5	-	4	875	c.773C>T	c.(772-774)gCa>gTa	p.A258V		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A258V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCAGAGATGCAATGAAAAA	0.423																																					p.A258V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C773T	22						.						22.0	22.0	22.0					22																	17265116		865	2135	3000	15645116	SO:0001583	missense	150165	exon4			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.773C>T	22.37:g.17265116G>A	ENSP00000331704:p.Ala258Val	Somatic		Capture	Illumina HiSeq	Phase_I	15645116	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.719141	0.48728	.	.	ENSG00000172967	ENST00000331428	T	0.63255	-0.03	0.771	-1.31	0.09230	.	0.402866	0.23307	U	0.049613	T	0.34395	0.0896	L	0.27053	0.805	0.21325	N	0.999727	P	0.41569	0.755	B	0.28305	0.088	T	0.29579	-1.0007	10	0.37606	T	0.19	.	6.2862	0.21035	0.0:0.3141:0.6858:0.0	.	258	Q5GH77	XKR3_HUMAN	V	258	ENSP00000331704:A258V	ENSP00000331704:A258V	A	-	2	0	XKR3	15645116	0.922000	0.31269	0.025000	0.17156	0.070000	0.16714	3.410000	0.52664	-0.165000	0.10908	0.297000	0.19635	GCA		0.423	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878	
GAB4	128954	broad.mit.edu	37	22	17445746	17445746	+	Silent	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:17445746G>T	ENST00000400588.1	-	8	1493	c.1386C>A	c.(1384-1386)acC>acA	p.T462T	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	462								p.T462T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGAGTCAAAGGTGTGGCTGT	0.577																																					p.T462T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1386A	22						.						132.0	140.0	138.0					22																	17445746		2183	4293	6476	15825746	SO:0001819	synonymous_variant	128954	exon8			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1386C>A	22.37:g.17445746G>T		Somatic		Capture	Illumina HiSeq	Phase_I	15825746	NM_001037814		Silent	SNP	ENST00000400588.1	37	CCDS42976.1																																																																																				0.577	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882	
LZTR1	8216	broad.mit.edu	37	22	21346606	21346606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:21346606G>A	ENST00000215739.8	+	10	1456	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G347D	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	366					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G366D(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GATGTGTTTGGCCTGGACTTT	0.612																																					p.G366D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	22						.						94.0	88.0	90.0					22																	21346606		2203	4300	6503	19676606	SO:0001583	missense	8216	exon10			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1097G>A	22.37:g.21346606G>A	ENSP00000215739:p.Gly366Asp	Somatic		Capture	Illumina HiSeq	Phase_I	19676606	NM_006767	Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055185	0.36277	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.56275	0.88;0.47	5.21	5.21	0.72293	.	0.323511	0.30060	N	0.010508	T	0.52256	0.1723	N	0.08118	0	0.40715	D	0.982602	D;D;B;B	0.89917	0.999;1.0;0.035;0.253	D;D;B;B	0.87578	0.992;0.998;0.007;0.128	T	0.57341	-0.7828	10	0.34782	T	0.22	-41.101	14.3021	0.66359	0.0:0.0:1.0:0.0	.	347;325;366;325	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	D	325;366;347	ENSP00000215739:G366D;ENSP00000374006:G347D	ENSP00000215739:G366D	G	+	2	0	LZTR1	19676606	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	5.096000	0.64535	2.440000	0.82611	0.456000	0.33151	GGC		0.612	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
LZTR1	8216	broad.mit.edu	37	22	21351533	21351533	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:21351533C>T	ENST00000215739.8	+	21	2778	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.P788S	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	807					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P807S(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTCCAAGTTGCCCACCCTGCG	0.632																																					p.P807S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2419T	22						.						73.0	66.0	68.0					22																	21351533		2203	4300	6503	19681533	SO:0001583	missense	8216	exon21			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2419C>T	22.37:g.21351533C>T	ENSP00000215739:p.Pro807Ser	Somatic		Capture	Illumina HiSeq	Phase_I	19681533	NM_006767	Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972299	0.74246	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.57752	0.8;0.38	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.48877	1.53	0.80722	D	1	D;B;D	0.89917	1.0;0.274;0.994	D;B;D	0.75484	0.986;0.056;0.955	T	0.63037	-0.6726	10	0.37606	T	0.19	-30.1665	16.9336	0.86197	0.0:1.0:0.0:0.0	.	788;807;766	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	S	766;807;788	ENSP00000215739:P807S;ENSP00000374006:P788S	ENSP00000215739:P807S	P	+	1	0	LZTR1	19681533	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.948000	0.70249	2.590000	0.87494	0.563000	0.77884	CCC		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
GSTT1	2952	broad.mit.edu	37	22	24384226	24384226	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:24384226G>A	ENST00000248935.5	-	1	58	c.6C>T	c.(4-6)ggC>ggT	p.G2G	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		2	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.G2G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	ACAGCTCCAGGCCCATAGTGG	0.617									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																												p.G2G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6T	22						.						65.0	61.0	62.0					22																	24384226		1702	3597	5299	22714226	SO:0001819	synonymous_variant	2952	exon1	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																												ENST00000248935.5:c.6C>T	22.37:g.24384226G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22714226	NM_000853	O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	CCDS13822.1																																																																																				0.617	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2		
SGSM1	129049	broad.mit.edu	37	22	25255786	25255786	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:25255786G>A	ENST00000400359.4	+	9	912	c.905G>A	c.(904-906)gGg>gAg	p.G302E	SGSM1_ENST00000400358.4_Missense_Mutation_p.G302E	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	302	Required for interaction with RAP family members.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.G302E(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGGTCTGTGGGGGACCTGGAC	0.607																																					p.G302E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905A	22						.						135.0	138.0	137.0					22																	25255786		2043	4199	6242	23585786	SO:0001583	missense	129049	exon9			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.905G>A	22.37:g.25255786G>A	ENSP00000383212:p.Gly302Glu	Somatic		Capture	Illumina HiSeq	Phase_I	23585786	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884841	0.51908	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	D;D	0.82167	-1.58;-1.58	4.95	3.92	0.45320	.	0.049625	0.85682	D	0.000000	D	0.84759	0.5543	L	0.41415	1.275	0.58432	D	0.999999	D;D;P;P;P	0.89917	0.999;1.0;0.849;0.818;0.765	D;D;P;P;B	0.91635	0.974;0.999;0.554;0.462;0.351	T	0.80202	-0.1480	10	0.07482	T	0.82	-8.6103	14.1234	0.65203	0.0:0.0:0.8486:0.1514	.	302;418;435;302;435	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	E	418;302;302	ENSP00000383211:G302E;ENSP00000383212:G302E	ENSP00000383211:G302E	G	+	2	0	SGSM1	23585786	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.096000	0.76960	1.206000	0.43276	-0.169000	0.13324	GGG		0.607	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
TPST2	8459	broad.mit.edu	37	22	26932286	26932286	+	Missense_Mutation	SNP	G	G	T	rs375196476		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:26932286G>T	ENST00000338754.4	-	4	1279	c.1009C>A	c.(1009-1011)Cct>Act	p.P337T	TPST2_ENST00000398110.2_Missense_Mutation_p.P337T|TPST2_ENST00000403880.1_Missense_Mutation_p.P337T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	337					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.P337T(1)		central_nervous_system(1)|large_intestine(1)|lung(5)	7						AAGGGGTCAGGGTTGCCATAG	0.572																																					p.P337T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1009A	22						.						70.0	62.0	65.0					22																	26932286		2203	4300	6503	25262286	SO:0001583	missense	8459	exon4			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.1009C>A	22.37:g.26932286G>T	ENSP00000339813:p.Pro337Thr	Somatic		Capture	Illumina HiSeq	Phase_I	25262286	NM_001008566	B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443807	0.83993	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000445720	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.75317	0.3833	M	0.87900	2.915	0.80722	D	1	D	0.55605	0.972	P	0.49140	0.601	T	0.81495	-0.0907	9	0.87932	D	0	-23.535	18.2037	0.89847	0.0:0.0:1.0:0.0	.	337	O60704	TPST2_HUMAN	T	337;337;337;270;84	.	ENSP00000339813:P337T	P	-	1	0	TPST2	25262286	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	5.915000	0.69973	2.535000	0.85469	0.655000	0.94253	CCT		0.572	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595	
AP1B1	162	broad.mit.edu	37	22	29755936	29755936	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:29755936G>A	ENST00000405198.1	-	3	187	c.156C>T	c.(154-156)ccC>ccT	p.P52P	AP1B1_ENST00000415447.1_Silent_p.P52P|AP1B1_ENST00000356015.2_Silent_p.P52P|AP1B1_ENST00000402502.1_Silent_p.P52P|AP1B1_ENST00000357586.2_Silent_p.P52P|AP1B1_ENST00000317368.7_Silent_p.P52P|AP1B1_ENST00000432560.2_Silent_p.P52P			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	52					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.P52P(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGACCACATCGGGGAAGAGGG	0.493											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P52P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	22						.						100.0	89.0	93.0					22																	29755936		2203	4300	6503	28085936	SO:0001819	synonymous_variant	162	exon4			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.156C>T	22.37:g.29755936G>A		Somatic	812	Capture	Illumina HiSeq	Phase_I	28085936	NM_001166019	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	CCDS13855.1																																																																																				0.493	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127	
EIF4ENIF1	56478	broad.mit.edu	37	22	31844168	31844168	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:31844168G>A	ENST00000397525.1	-	13	2042	c.1819C>T	c.(1819-1821)Cgc>Tgc	p.R607C	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432C|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262C|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R607C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGGGTTTGCGCATGCCTTGG	0.532																																					p.R607C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1819T	22						.						246.0	214.0	225.0					22																	31844168		2203	4300	6503	30174168	SO:0001583	missense	56478	exon13			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1819C>T	22.37:g.31844168G>A	ENSP00000380659:p.Arg607Cys	Somatic		Capture	Illumina HiSeq	Phase_I	30174168	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597284	0.87055	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	6.16	0.99307	.	0.182608	0.51477	D	0.000084	T	0.67496	0.2899	L	0.43152	1.355	0.51482	D	0.999927	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;P	0.68621	0.959;0.926;0.931;0.807	T	0.66040	-0.6022	9	0.51188	T	0.08	-6.7681	13.3547	0.60621	0.0:0.0:0.833:0.167	.	432;607;432;583	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	C	432;607;607;583;262;164	.	ENSP00000328103:R607C	R	-	1	0	EIF4ENIF1	30174168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.645000	0.61404	2.937000	0.99478	0.650000	0.86243	CGC		0.532	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
RASD2	23551	broad.mit.edu	37	22	35942902	35942902	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:35942902G>A	ENST00000216127.4	+	2	688	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	16					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A16T(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAGTGTGCCCGCCAAAAACTC	0.607																																					p.A16T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G46A	22						.						86.0	66.0	72.0					22																	35942902		2203	4300	6503	34272848	SO:0001583	missense	23551	exon2			AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.46G>A	22.37:g.35942902G>A	ENSP00000216127:p.Ala16Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34272848	NM_014310	O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652033	0.96714	.	.	ENSG00000100302	ENST00000216127	T	0.71579	-0.58	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	N	0.16602	0.42	0.80722	D	1	D	0.54207	0.965	P	0.46543	0.52	T	0.66842	-0.5821	10	0.44086	T	0.13	.	19.0173	0.92900	0.0:0.0:1.0:0.0	.	16	Q96D21	RHES_HUMAN	T	16	ENSP00000216127:A16T	ENSP00000216127:A16T	A	+	1	0	RASD2	34272848	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	7.758000	0.85224	2.499000	0.84300	0.558000	0.71614	GCC		0.607	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310	
NCF4	4689	broad.mit.edu	37	22	37263442	37263442	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:37263442T>G	ENST00000248899.6	+	4	464	c.280T>G	c.(280-282)Tac>Gac	p.Y94D	CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.Y94D	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	94	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Phosphatidylinositol 3-phosphate binding.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.Y94D(2)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	AGCCAAAGTCTACGTGGGTGT	0.617																																					p.Y94D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T280G	22						.						90.0	68.0	75.0					22																	37263442		2203	4300	6503	35593388	SO:0001583	missense	4689	exon4			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.280T>G	22.37:g.37263442T>G	ENSP00000248899:p.Tyr94Asp	Somatic		Capture	Illumina HiSeq	Phase_I	35593388	NM_013416	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151183	0.57151	.	.	ENSG00000100365	ENST00000248899;ENST00000397147	T;T	0.29397	1.57;1.57	4.64	4.64	0.57946	Phox homologous domain (5);	0.086929	0.47852	D	0.000201	T	0.50531	0.1621	L	0.59436	1.845	0.42855	D	0.994094	D;D	0.76494	0.999;0.981	D;D	0.72338	0.977;0.909	T	0.55075	-0.8197	10	0.87932	D	0	-18.7311	13.7172	0.62705	0.0:0.0:0.0:1.0	.	94;94	A8K4F9;Q15080	.;NCF4_HUMAN	D	94	ENSP00000248899:Y94D;ENSP00000380334:Y94D	ENSP00000248899:Y94D	Y	+	1	0	NCF4	35593388	1.000000	0.71417	0.998000	0.56505	0.419000	0.31324	6.475000	0.73582	1.727000	0.51537	0.528000	0.53228	TAC		0.617	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631	
IL2RB	3560	broad.mit.edu	37	22	37538503	37538503	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:37538503C>T	ENST00000216223.5	-	4	451	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	85					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.A85T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGTTGCAGGCCCAGGATGCT	0.597																																					p.A85T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	22						.						105.0	99.0	101.0					22																	37538503		2203	4300	6503	35868449	SO:0001583	missense	3560	exon4			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.253G>A	22.37:g.37538503C>T	ENSP00000216223:p.Ala85Thr	Somatic		Capture	Illumina HiSeq	Phase_I	35868449	NM_000878	B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	c	10.36	1.328150	0.24080	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	5.06	2.73	0.32206	Fibronectin, type III (1);	0.441472	0.25584	N	0.029671	D	0.90920	0.7146	L	0.50333	1.59	0.25609	N	0.986512	B	0.30793	0.295	B	0.25884	0.064	T	0.78848	-0.2042	10	0.13470	T	0.59	-23.2554	3.2737	0.06891	0.259:0.5848:0.0:0.1561	.	85	P14784	IL2RB_HUMAN	T	85	ENSP00000216223:A85T;ENSP00000403731:A85T;ENSP00000402685:A85T;ENSP00000401020:A85T	ENSP00000216223:A85T	A	-	1	0	IL2RB	35868449	0.775000	0.28604	1.000000	0.80357	0.111000	0.19643	0.385000	0.20685	1.088000	0.41272	0.556000	0.70494	GCC		0.597	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1		
C22orf23	84645	broad.mit.edu	37	22	38349078	38349078	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:38349078G>T	ENST00000249079.2	-	2	335	c.79C>A	c.(79-81)Ccg>Acg	p.P27T	POLR2F_ENST00000470701.1_5'Flank|POLR2F_ENST00000407936.1_5'Flank|RP5-1039K5.17_ENST00000609976.1_RNA|C22orf23_ENST00000403305.1_Missense_Mutation_p.P27T|POLR2F_ENST00000442738.2_5'Flank|C22orf23_ENST00000403026.1_Missense_Mutation_p.P27T|POLR2F_ENST00000488684.1_5'Flank|POLR2F_ENST00000460648.1_5'Flank|POLR2F_ENST00000606538.1_5'Flank|POLR2F_ENST00000405557.1_5'Flank			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	27								p.P27T(1)		endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CAGGTCCCCGGGGTGTAAGTG	0.567																																					p.P27T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C79A	22						.						138.0	135.0	136.0					22																	38349078		2203	4300	6503	36679024	SO:0001583	missense	84645	exon2			AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.79C>A	22.37:g.38349078G>T	ENSP00000249079:p.Pro27Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36679024	NM_032561	Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505476	0.44558	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.07	4.02	0.46733	.	0.280305	0.30667	N	0.009136	T	0.35393	0.0930	L	0.55103	1.725	0.80722	D	1	P	0.37061	0.58	B	0.34652	0.187	T	0.09058	-1.0692	10	0.25106	T	0.35	-13.224	11.2401	0.48964	0.0:0.1856:0.8144:0.0	.	27	Q9BZE7	EVG1_HUMAN	T	27	ENSP00000384667:P27T;ENSP00000249079:P27T;ENSP00000384618:P27T;ENSP00000395077:P27T;ENSP00000407707:P27T	ENSP00000249079:P27T	P	-	1	0	C22orf23	36679024	1.000000	0.71417	0.896000	0.35187	0.936000	0.57629	3.147000	0.50639	1.067000	0.40740	0.555000	0.69702	CCG		0.567	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561	
ADSL	158	broad.mit.edu	37	22	40759035	40759035	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:40759035C>T	ENST00000216194.7	+	10	1117	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M	ADSL_ENST00000342312.6_Missense_Mutation_p.T354M|ADSL_ENST00000454266.2_Missense_Mutation_p.T368M	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	354					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.T354M(4)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATATTGAATACGCTGCAGAAC	0.413																																					p.T354M	Colon(4;65 130 1097 1516)											.	.	4	Substitution - Missense(4)	large_intestine(2)|breast(2)	c.C1061T	22						.						185.0	183.0	184.0					22																	40759035		2203	4300	6503	39088981	SO:0001583	missense	158	exon10			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1061C>T	22.37:g.40759035C>T	ENSP00000216194:p.Thr354Met	Somatic		Capture	Illumina HiSeq	Phase_I	39088981	NM_000026	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401202	0.62288	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	T;T;T	0.73469	-0.75;-0.75;-0.75	5.56	5.56	0.83823	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.63880	0.97;0.993;0.988;0.988	B;P;B;B	0.50192	0.298;0.634;0.431;0.431	D	0.86779	0.1978	10	0.62326	D	0.03	-12.8941	19.5337	0.95240	0.0:1.0:0.0:0.0	.	368;354;354;354	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	M	354;368;174;354	ENSP00000216194:T354M;ENSP00000390107:T368M;ENSP00000341429:T354M	ENSP00000216194:T354M	T	+	2	0	ADSL	39088981	1.000000	0.71417	0.241000	0.24154	0.674000	0.39518	6.720000	0.74723	2.631000	0.89168	0.462000	0.41574	ACG		0.413	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026	
L3MBTL2	83746	broad.mit.edu	37	22	41605889	41605889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:41605889C>T	ENST00000216237.5	+	2	372	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F	RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	72					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L72F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCATTTGCTCAGCCCTGG	0.567																																					p.L72F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C214T	22						.						115.0	113.0	114.0					22																	41605889		2203	4300	6503	39935835	SO:0001583	missense	83746	exon2			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.214C>T	22.37:g.41605889C>T	ENSP00000216237:p.Leu72Phe	Somatic		Capture	Illumina HiSeq	Phase_I	39935835	NM_031488	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529939	0.45073	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	T	0.17691	2.26	5.08	4.06	0.47325	.	0.895618	0.09777	N	0.757165	T	0.07279	0.0184	N	0.03608	-0.345	0.22446	N	0.999099	B	0.02656	0.0	B	0.01281	0.0	T	0.35226	-0.9797	10	0.08837	T	0.75	.	9.0941	0.36629	0.0:0.8307:0.0:0.1693	.	72	Q969R5	LMBL2_HUMAN	F	72;64	ENSP00000216237:L72F	ENSP00000216237:L72F	L	+	1	0	L3MBTL2	39935835	0.944000	0.32072	0.997000	0.53966	0.959000	0.62525	2.482000	0.45224	1.110000	0.41699	0.637000	0.83480	CTC		0.567	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488	
A4GALT	53947	broad.mit.edu	37	22	43089136	43089136	+	Silent	SNP	G	G	A	rs372559008		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:43089136G>A	ENST00000401850.1	-	2	1311	c.822C>T	c.(820-822)cgC>cgT	p.R274R	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.R274R|A4GALT_ENST00000381278.3_Silent_p.R274R			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	274					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.R274R(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TGGTGACGCCGCGGCAGGCGC	0.667																																					p.R274R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C822T	22						.	G		2,4402		0,2,2200	28.0	24.0	25.0		822	-4.9	0.9	22		25	0,8596		0,0,4298	no	coding-synonymous	A4GALT	NM_017436.4		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		274/354	43089136	2,12998	2202	4298	6500	41419080	SO:0001819	synonymous_variant	53947	exon3				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.822C>T	22.37:g.43089136G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41419080	NM_017436	B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	CCDS14041.1																																																																																				0.667	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436	
FAM118A	55007	broad.mit.edu	37	22	45723895	45723895	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr22:45723895G>A	ENST00000216214.3	+	5	1307	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	FAM118A_ENST00000441876.2_Missense_Mutation_p.R158Q|FAM118A_ENST00000405548.3_5'Flank|FAM118A_ENST00000405673.1_Missense_Mutation_p.R158Q	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	158						integral component of membrane (GO:0016021)		p.R158Q(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCTTTGGCCGGCGGCAGAAC	0.622																																					p.R158Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473A	22						.						25.0	21.0	22.0					22																	45723895		2203	4300	6503	44102559	SO:0001583	missense	55007	exon5			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.473G>A	22.37:g.45723895G>A	ENSP00000216214:p.Arg158Gln	Somatic		Capture	Illumina HiSeq	Phase_I	44102559	NM_001104595	B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	A	2.257	-0.370195	0.05069	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405673	T;T;T	0.44083	0.93;0.93;1.04	5.03	3.99	0.46301	.	0.227351	0.40222	N	0.001152	T	0.17789	0.0427	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07501	-1.0769	10	0.11485	T	0.65	-0.2357	4.5401	0.12052	0.7001:0.0:0.1581:0.1418	.	158	Q9NWS6	F118A_HUMAN	Q	158	ENSP00000216214:R158Q;ENSP00000395892:R158Q;ENSP00000385231:R158Q	ENSP00000216214:R158Q	R	+	2	0	FAM118A	44102559	1.000000	0.71417	0.998000	0.56505	0.252000	0.25951	2.697000	0.47060	0.267000	0.21916	-0.524000	0.04348	CGG		0.622	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911	
MYO1B	4430	broad.mit.edu	37	2	192255036	192255037	+	Frame_Shift_Ins	INS	-	-	A	rs567973879		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:192255036_192255037insA	ENST00000392318.3	+	18	2047_2048	c.1800_1801insA	c.(1801-1803)aaafs	p.K601fs	MYO1B_ENST00000392316.1_Frame_Shift_Ins_p.K601fs|MYO1B_ENST00000304164.4_Frame_Shift_Ins_p.K601fs|MYO1B_ENST00000439065.2_5'Flank|MYO1B_ENST00000339514.4_Frame_Shift_Ins_p.K601fs	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	601	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A603fs*37(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AACCGAATGATAAAAAAGCAGC	0.406																																					p.D600fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1800_1801insA	2						.																																			191963282	SO:0001589	frameshift_variant	4430	exon18			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1806dupA	2.37:g.192255042_192255042dupA	ENSP00000376132:p.Lys601fs	Somatic		Capture	Illumina HiSeq	Phase_I	191963281	NM_001130158	O43794|Q7Z6L5	Frame_Shift_Ins	INS	ENST00000392318.3	37	CCDS46477.1																																																																																				0.406	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
SPHKAP	80309	broad.mit.edu	37	2	228860400	228860401	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:228860400_228860401insA	ENST00000392056.3	-	8	4504_4505	c.4458_4459insT	c.(4456-4461)cttgatfs	p.D1487fs	SPHKAP_ENST00000344657.5_Frame_Shift_Ins_p.D1487fs	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1487						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.D1487fs*1(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCTGGTATCAAGGCTGTCAC	0.535																																					p.D1487_T1488delinsX												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.4459_4460insT	2						.																																			228568645	SO:0001589	frameshift_variant	80309	exon8				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4459dupT	2.37:g.228860402_228860402dupA	ENSP00000375909:p.Asp1487fs	Somatic		Capture	Illumina HiSeq	Phase_I	228568644	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Frame_Shift_Ins	INS	ENST00000392056.3	37	CCDS46537.1																																																																																				0.535	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
LONRF2	164832	broad.mit.edu	37	2	100903438	100903438	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:100903438G>A	ENST00000393437.3	-	11	2647	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	LONRF2_ENST00000409647.1_Missense_Mutation_p.R427C	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	670	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.R670C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCTTTCATGCGATCCTGGAGA	0.463																																					p.R670C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2008T	2						.						123.0	108.0	113.0					2																	100903438		2203	4300	6503	100269870	SO:0001583	missense	164832	exon11			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.2008C>T	2.37:g.100903438G>A	ENSP00000377086:p.Arg670Cys	Somatic		Capture	Illumina HiSeq	Phase_I	100269870	NM_198461	B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672326	0.67928	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.44083	0.93;0.93	4.95	0.28	0.15682	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.268523	0.40385	N	0.001103	T	0.45637	0.1352	L	0.47190	1.495	0.29657	N	0.843521	D	0.76494	0.999	D	0.64877	0.93	T	0.40270	-0.9572	10	0.59425	D	0.04	-1.4895	3.4496	0.07493	0.0938:0.1062:0.2557:0.5444	.	670	Q1L5Z9	LONF2_HUMAN	C	670;427	ENSP00000377086:R670C;ENSP00000386823:R427C	ENSP00000377086:R670C	R	-	1	0	LONRF2	100269870	0.992000	0.36948	0.129000	0.21949	0.993000	0.82548	0.526000	0.22971	0.103000	0.17682	0.655000	0.94253	CGC		0.463	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461	
CHST10	9486	broad.mit.edu	37	2	101014522	101014522	+	Missense_Mutation	SNP	C	C	A	rs572773940		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:101014522C>A	ENST00000264249.3	-	5	660	c.275G>T	c.(274-276)tGc>tTc	p.C92F	CHST10_ENST00000409701.1_Missense_Mutation_p.C92F|CHST10_ENST00000542617.1_Missense_Mutation_p.C140F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	92					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.C92F(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ATCATCCCTGCAGACGTTTCT	0.532																																					p.C92F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275T	2						.						140.0	142.0	141.0					2																	101014522		2203	4300	6503	100380954	SO:0001583	missense	9486	exon5			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.275G>T	2.37:g.101014522C>A	ENSP00000264249:p.Cys92Phe	Somatic		Capture	Illumina HiSeq	Phase_I	100380954	NM_004854	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022112	0.93462	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989	D;D;D;T;T;T	0.83419	-1.59;-1.72;-1.59;-1.41;-0.4;-0.48	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91193	0.4985	10	0.87932	D	0	-34.8109	19.592	0.95518	0.0:1.0:0.0:0.0	.	92	O43529	CHSTA_HUMAN	F	92;140;92;92;92;140	ENSP00000264249:C92F;ENSP00000438869:C140F;ENSP00000387309:C92F;ENSP00000387121:C92F;ENSP00000405922:C92F;ENSP00000387977:C140F	ENSP00000264249:C92F	C	-	2	0	CHST10	100380954	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.818000	0.86416	2.628000	0.89032	0.655000	0.94253	TGC		0.532	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
SLC9A2	6549	broad.mit.edu	37	2	103281800	103281800	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:103281800G>A	ENST00000233969.2	+	3	1137	c.995G>A	c.(994-996)gGc>gAc	p.G332D		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	332					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.G332D(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CACCTCTCAGGCATCATGGCG	0.383																																					p.G332D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G995A	2						.						191.0	178.0	183.0					2																	103281800		2203	4300	6503	102648232	SO:0001583	missense	6549	exon3				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.995G>A	2.37:g.103281800G>A	ENSP00000233969:p.Gly332Asp	Somatic		Capture	Illumina HiSeq	Phase_I	102648232	NM_003048	B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555365	0.86231	.	.	ENSG00000115616	ENST00000233969	T	0.17370	2.28	5.66	5.66	0.87406	Cation/H+ exchanger (1);	0.156823	0.56097	D	0.000023	T	0.59155	0.2173	H	0.96430	3.82	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	T	0.72037	-0.4411	10	0.87932	D	0	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	332	Q9UBY0	SL9A2_HUMAN	D	332	ENSP00000233969:G332D	ENSP00000233969:G332D	G	+	2	0	SLC9A2	102648232	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.229000	0.72294	2.831000	0.97527	0.650000	0.86243	GGC		0.383	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
GCC2	9648	broad.mit.edu	37	2	109116100	109116100	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:109116100A>C	ENST00000309863.6	+	22	5588	c.4874A>C	c.(4873-4875)cAg>cCg	p.Q1625P		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1625	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.|Mediates interaction with RAB9A.				Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.Q1625P(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GTCTTGCTGCAGTTCATTTTC	0.418																																					p.Q1625P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4874C	2						.						281.0	259.0	267.0					2																	109116100		2201	4280	6481	108482532	SO:0001583	missense	9648	exon22			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4874A>C	2.37:g.109116100A>C	ENSP00000307939:p.Gln1625Pro	Somatic		Capture	Illumina HiSeq	Phase_I	108482532	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	a	19.58	3.854783	0.71719	.	.	ENSG00000135968	ENST00000309863	T	0.37752	1.18	5.16	4.01	0.46588	GRIP (3);	0.065462	0.64402	D	0.000007	T	0.50837	0.1639	M	0.82193	2.58	0.53005	D	0.999963	D	0.61080	0.989	P	0.52159	0.691	T	0.56165	-0.8024	10	0.72032	D	0.01	.	10.0655	0.42301	0.919:0.0:0.081:0.0	.	1625	Q8IWJ2	GCC2_HUMAN	P	1625	ENSP00000307939:Q1625P	ENSP00000307939:Q1625P	Q	+	2	0	GCC2	108482532	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.631000	0.67812	0.817000	0.34445	0.449000	0.29647	CAG		0.418	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
DPP10	57628	broad.mit.edu	37	2	116548737	116548737	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:116548737C>A	ENST00000410059.1	+	18	2092	c.1612C>A	c.(1612-1614)Ctt>Att	p.L538I	DPP10_ENST00000393147.2_Missense_Mutation_p.L542I|DPP10_ENST00000409163.1_Missense_Mutation_p.L488I|DPP10_ENST00000310323.8_Missense_Mutation_p.L531I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	538						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.L531F(1)|p.L538I(1)|p.L538F(1)|p.L531I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATTAAAATCCTTCATATTGA	0.338																																					p.L488I												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C1462A	2						.						73.0	77.0	76.0					2																	116548737		2199	4300	6499	116265207	SO:0001583	missense	57628	exon19			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1612C>A	2.37:g.116548737C>A	ENSP00000386565:p.Leu538Ile	Somatic		Capture	Illumina HiSeq	Phase_I	116265207	NM_001178036	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	0.945	-0.708290	0.03230	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.54	3.69	0.42338	.	0.306644	0.31697	N	0.007206	T	0.20901	0.0503	N	0.11427	0.14	0.31967	N	0.607652	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.23013	-1.0200	10	0.02654	T	1	-10.4987	13.7199	0.62720	0.0:0.7055:0.2945:0.0	.	531;542;534;538	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	538;488;542;531;488	ENSP00000386565:L538I;ENSP00000387038:L488I;ENSP00000376855:L542I;ENSP00000309066:L531I	ENSP00000309066:L531I	L	+	1	0	DPP10	116265207	0.988000	0.35896	1.000000	0.80357	0.868000	0.49771	0.706000	0.25690	0.842000	0.35045	0.650000	0.86243	CTT		0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
SCTR	6344	broad.mit.edu	37	2	120252040	120252040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:120252040G>A	ENST00000019103.5	-	2	424	c.157C>T	c.(157-159)Cag>Tag	p.Q53*		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	53					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.Q53*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TCTCCTGTCTGCTCTCTGGAG	0.602																																					p.Q53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C157T	2						.						77.0	64.0	68.0					2																	120252040		2203	4300	6503	119968510	SO:0001587	stop_gained	6344	exon2				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.157C>T	2.37:g.120252040G>A	ENSP00000019103:p.Gln53*	Somatic		Capture	Illumina HiSeq	Phase_I	119968510	NM_002980	Q12961|Q13213|Q53T00	Nonsense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222980	0.79464	.	.	ENSG00000080293	ENST00000019103	.	.	.	4.47	-6.14	0.02111	.	2.303250	0.02290	N	0.070201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.8159	0.05456	0.1106:0.2751:0.4179:0.1965	.	.	.	.	X	53	.	ENSP00000019103:Q53X	Q	-	1	0	SCTR	119968510	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.712000	0.05013	-0.663000	0.05331	0.561000	0.74099	CAG		0.602	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
NCKAP5	344148	broad.mit.edu	37	2	133483297	133483297	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:133483297G>A	ENST00000409261.1	-	19	5989	c.5616C>T	c.(5614-5616)agC>agT	p.S1872S	NCKAP5_ENST00000405974.3_Silent_p.S553S|NCKAP5_ENST00000409213.1_Silent_p.S553S|NCKAP5_ENST00000317721.6_Silent_p.S1872S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1872								p.S1872S(1)|p.S1872R(1)|p.S392R(1)|p.S392S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TACTGCCACCGCTGGCAGAGT	0.458																																					p.S553S												.	.	4	Substitution - Missense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)	c.C1659T	2						.						101.0	96.0	98.0					2																	133483297		1951	4167	6118	133199767	SO:0001819	synonymous_variant	344148	exon17			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5616C>T	2.37:g.133483297G>A		Somatic		Capture	Illumina HiSeq	Phase_I	133199767	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																				0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
THSD7B	80731	broad.mit.edu	37	2	137814066	137814066	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:137814066C>T	ENST00000409968.1	+	3	394	c.216C>T	c.(214-216)gaC>gaT	p.D72D	THSD7B_ENST00000272643.3_Silent_p.D72D|THSD7B_ENST00000413152.2_Silent_p.D41D|THSD7B_ENST00000543459.1_5'Flank			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	72	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.D72D(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCATGTTGACGGGTGGACAA	0.522																																					p.D41D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C123T	2						.						77.0	83.0	81.0					2																	137814066		2010	4190	6200	137530536	SO:0001819	synonymous_variant	80731	exon2					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.216C>T	2.37:g.137814066C>T		Somatic		Capture	Illumina HiSeq	Phase_I	137530536	NM_001080427		De_novo_Start_OutOfFrame	SNP	ENST00000409968.1	37																																																																																					0.522	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
RIF1	55183	broad.mit.edu	37	2	152273125	152273125	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:152273125T>C	ENST00000243326.5	+	4	814	c.331T>C	c.(331-333)Tca>Cca	p.S111P	RIF1_ENST00000433166.2_Missense_Mutation_p.S111P|RIF1_ENST00000453091.2_Missense_Mutation_p.S111P|RIF1_ENST00000444746.2_Missense_Mutation_p.S111P|RIF1_ENST00000428287.2_Missense_Mutation_p.S111P|RIF1_ENST00000430328.2_Missense_Mutation_p.S111P			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.S111P(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATTAAGAATTCAGACAAAAA	0.343																																					p.S111P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T331C	2						.						174.0	187.0	183.0					2																	152273125		2203	4300	6503	151981371	SO:0001583	missense	55183	exon5			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.331T>C	2.37:g.152273125T>C	ENSP00000243326:p.Ser111Pro	Somatic		Capture	Illumina HiSeq	Phase_I	151981371	NM_001177664	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.880|9.880	1.201198|1.201198	0.22121|0.22121	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	.|T;T;T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;0.8;-0.03;-0.03	5.65|5.65	1.65|1.65	0.23941|0.23941	.|Armadillo-type fold (1);	.|0.686917	.|0.14824	.|N	.|0.296298	T|T	0.40719|0.40719	0.1128|0.1128	N|N	0.21583|0.21583	0.68|0.68	0.38500|0.38500	D|D	0.948211|0.948211	.|B;B	.|0.17038	.|0.02;0.007	.|B;B	.|0.16289	.|0.015;0.015	T|T	0.31668|0.31668	-0.9935|-0.9935	5|10	.|0.46703	.|T	.|0.11	-2.3462|-2.3462	2.0272|2.0272	0.03521|0.03521	0.1266:0.1627:0.1304:0.5803|0.1266:0.1627:0.1304:0.5803	.|.	.|111;111	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	S|P	102|111	.|ENSP00000390181:S111P;ENSP00000414615:S111P;ENSP00000415691:S111P;ENSP00000396865:S111P;ENSP00000243326:S111P;ENSP00000416123:S111P	.|ENSP00000243326:S111P	F|S	+|+	2|1	0|0	RIF1|RIF1	151981371|151981371	0.746000|0.746000	0.28272|0.28272	0.862000|0.862000	0.33874|0.33874	0.251000|0.251000	0.25915|0.25915	0.292000|0.292000	0.19011|0.19011	0.480000|0.480000	0.27534|0.27534	-0.417000|-0.417000	0.06048|0.06048	TTC|TCA		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
NR4A2	4929	broad.mit.edu	37	2	157185044	157185044	+	Splice_Site	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:157185044C>T	ENST00000339562.4	-	4	1228	c.866G>A	c.(865-867)cGc>cAc	p.R289H	NR4A2_ENST00000539077.1_Splice_Site_p.R300H|NR4A2_ENST00000426264.1_Splice_Site_p.R226H|NR4A2_ENST00000409572.1_Splice_Site_p.R289H|NR4A2_ENST00000429376.1_Splice_Site_p.R226H|NR4A2_ENST00000409108.2_Splice_Site_p.R289H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	289					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R289H(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTGCACTGTGCGCTGCAAAAG	0.418																																					p.R289H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G866A	2						.						66.0	66.0	66.0					2																	157185044		2203	4300	6503	156893290	SO:0001630	splice_region_variant	4929	exon4			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.865-1G>A	2.37:g.157185044C>T		Somatic		Capture	Illumina HiSeq	Phase_I	156893290	NM_006186	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365293	0.82463	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	6.17	6.17	0.99709	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.99884	4.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96830	0.9610	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	289	P43354	NR4A2_HUMAN	H	289;226;289;300;289;226	ENSP00000344479:R289H;ENSP00000389986:R226H;ENSP00000386747:R289H;ENSP00000444925:R300H;ENSP00000386993:R289H;ENSP00000410952:R226H	ENSP00000344479:R289H	R	-	2	0	NR4A2	156893290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.418	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		Missense_Mutation
DPP4	1803	broad.mit.edu	37	2	162875308	162875308	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:162875308G>A	ENST00000360534.3	-	16	1911	c.1351C>T	c.(1351-1353)Ccg>Tcg	p.P451S	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	451					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P451S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CACCTTTCCGGATTCAGCTCA	0.438																																					p.P451S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1351T	2						.						154.0	140.0	145.0					2																	162875308		2203	4300	6503	162583554	SO:0001583	missense	1803	exon16			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1351C>T	2.37:g.162875308G>A	ENSP00000353731:p.Pro451Ser	Somatic		Capture	Illumina HiSeq	Phase_I	162583554	NM_001935	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161564	0.21538	.	.	ENSG00000197635	ENST00000360534	T	0.27104	1.69	5.52	3.28	0.37604	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.476839	0.23712	N	0.045310	T	0.14830	0.0358	L	0.31752	0.955	0.29167	N	0.877369	B	0.15719	0.014	B	0.13407	0.009	T	0.15492	-1.0435	10	0.15952	T	0.53	-14.768	6.2263	0.20710	0.1097:0.0:0.5812:0.309	.	451	P27487	DPP4_HUMAN	S	451	ENSP00000353731:P451S	ENSP00000353731:P451S	P	-	1	0	DPP4	162583554	0.111000	0.22076	0.986000	0.45419	0.882000	0.50991	0.130000	0.15850	1.424000	0.47217	0.563000	0.77884	CCG		0.438	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		
OSBPL6	114880	broad.mit.edu	37	2	179260184	179260184	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:179260184T>C	ENST00000190611.4	+	25	3079	c.2703T>C	c.(2701-2703)gtT>gtC	p.V901V	OSBPL6_ENST00000359685.3_Silent_p.V865V|OSBPL6_ENST00000392505.2_Silent_p.V926V|OSBPL6_ENST00000315022.2_Silent_p.V905V|OSBPL6_ENST00000409631.1_Silent_p.V865V|OSBPL6_ENST00000409045.3_Silent_p.V870V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	901					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.V901V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ACAGAAAAGTTATTGATGCCA	0.403																																					p.V901V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2703C	2						.						98.0	104.0	102.0					2																	179260184		2203	4300	6503	178968430	SO:0001819	synonymous_variant	114880	exon25			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2703T>C	2.37:g.179260184T>C		Somatic		Capture	Illumina HiSeq	Phase_I	178968430	NM_032523	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																				0.403	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
DFNB59	494513	broad.mit.edu	37	2	179323341	179323341	+	Silent	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:179323341G>C	ENST00000409117.3	+	5	1010	c.654G>C	c.(652-654)ctG>ctC	p.L218L	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Silent_p.L218L	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	218					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)		p.L218L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCATATACCTGGATGGTGCCT	0.393																																					p.L218L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G654C	2						.						150.0	150.0	150.0					2																	179323341		1864	4103	5967	179031587	SO:0001819	synonymous_variant	494513	exon5			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.654G>C	2.37:g.179323341G>C		Somatic		Capture	Illumina HiSeq	Phase_I	179031587	NM_001042702	A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	CCDS42787.1																																																																																				0.393	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1		
OSGEPL1	64172	broad.mit.edu	37	2	190618907	190618907	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:190618907G>A	ENST00000264151.5	-	4	876	c.774C>T	c.(772-774)caC>caT	p.H258H	Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000522700.1_Silent_p.H258H|OSGEPL1_ENST00000519810.1_Silent_p.H258H	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1									p.H258H(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TATCAGTAACGTGTTGAAGTC	0.299																																					p.H258H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C774T	2						.						60.0	59.0	60.0					2																	190618907		1814	4081	5895	190327152	SO:0001819	synonymous_variant	64172	exon4			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.774C>T	2.37:g.190618907G>A		Somatic		Capture	Illumina HiSeq	Phase_I	190327152	NM_022353		Silent	SNP	ENST00000264151.5	37	CCDS46472.1																																																																																				0.299	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353	
DNAH7	56171	broad.mit.edu	37	2	196851799	196851799	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:196851799A>G	ENST00000312428.6	-	14	1845	c.1745T>C	c.(1744-1746)gTa>gCa	p.V582A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	582	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V582A(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTTGTATTTACTTCCTGATG	0.338																																					p.V582A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1745C	2						.						114.0	108.0	110.0					2																	196851799		1814	4070	5884	196560044	SO:0001583	missense	56171	exon14			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1745T>C	2.37:g.196851799A>G	ENSP00000311273:p.Val582Ala	Somatic		Capture	Illumina HiSeq	Phase_I	196560044	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	9.225	1.034333	0.19590	.	.	ENSG00000118997	ENST00000312428	T	0.20881	2.04	5.88	4.63	0.57726	.	0.601605	0.15463	N	0.261049	T	0.14917	0.0360	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05178	-1.0901	10	0.12103	T	0.63	.	9.7818	0.40653	0.9:0.0:0.1:0.0	.	582	Q8WXX0	DYH7_HUMAN	A	582	ENSP00000311273:V582A	ENSP00000311273:V582A	V	-	2	0	DNAH7	196560044	0.297000	0.24408	0.969000	0.41365	0.985000	0.73830	1.543000	0.36147	0.914000	0.36822	0.533000	0.62120	GTA		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
GTF3C3	9330	broad.mit.edu	37	2	197657764	197657764	+	Silent	SNP	C	C	T	rs372304935|rs555178972		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:197657764C>T	ENST00000263956.3	-	3	416	c.327G>A	c.(325-327)gaG>gaA	p.E109E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E109E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	109	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E109E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTGTTtcttcctcctcctcct	0.438																																					p.E109E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G327A	2						.						64.0	62.0	63.0					2																	197657764		2203	4300	6503	197366009	SO:0001819	synonymous_variant	9330	exon3			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.327G>A	2.37:g.197657764C>T		Somatic		Capture	Illumina HiSeq	Phase_I	197366009	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	CCDS2316.1																																																																																				0.438	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
AOX1	316	broad.mit.edu	37	2	201450843	201450843	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:201450843G>A	ENST00000374700.2	+	1	253	c.12G>A	c.(10-12)gcG>gcA	p.A4A		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	4					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A4A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGACCGGGCGTCCGAGCTGC	0.731																																					p.A4A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12A	2						.						7.0	8.0	8.0					2																	201450843		2156	4205	6361	201159088	SO:0001819	synonymous_variant	316	exon1			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.12G>A	2.37:g.201450843G>A		Somatic		Capture	Illumina HiSeq	Phase_I	201159088	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	CCDS33360.1																																																																																				0.731	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
FZD7	8324	broad.mit.edu	37	2	202900081	202900081	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:202900081C>T	ENST00000286201.1	+	1	772	c.711C>T	c.(709-711)ggC>ggT	p.G237G	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	237					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G237G(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCGAACCGGGCCGTGCCAACG	0.672											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G237G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711T	2						.						28.0	29.0	29.0					2																	202900081		2198	4293	6491	202608326	SO:0001819	synonymous_variant	8324	exon1			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.711C>T	2.37:g.202900081C>T		Somatic	2133	Capture	Illumina HiSeq	Phase_I	202608326	NM_003507	O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	CCDS2351.1																																																																																				0.672	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507	
NRP2	8828	broad.mit.edu	37	2	206610542	206610542	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:206610542C>T	ENST00000357785.5	+	10	1745	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	NRP2_ENST00000540841.1_Missense_Mutation_p.R572W|NRP2_ENST00000412873.2_Missense_Mutation_p.R572W|NRP2_ENST00000272849.3_Missense_Mutation_p.R572W|NRP2_ENST00000540178.1_Missense_Mutation_p.R572W|NRP2_ENST00000360409.3_Missense_Mutation_p.R572W|NRP2_ENST00000357118.4_Missense_Mutation_p.R572W			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R572W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAGTATGTGCGGGTATACCC	0.582																																					p.R572W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1714T	2						.						96.0	85.0	89.0					2																	206610542		2203	4300	6503	206318787	SO:0001583	missense	8828	exon10			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1714C>T	2.37:g.206610542C>T	ENSP00000350432:p.Arg572Trp	Somatic		Capture	Illumina HiSeq	Phase_I	206318787	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783264	0.49891	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.84	2.95	0.34219	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.97983	4.12	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.97146	0.9828	10	0.87932	D	0	-27.2692	14.9869	0.71356	0.4899:0.5101:0.0:0.0	.	572;572;572;572;572	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	W	572	ENSP00000353582:R572W;ENSP00000439658:R572W;ENSP00000439261:R572W;ENSP00000349632:R572W;ENSP00000350432:R572W;ENSP00000407626:R572W;ENSP00000272849:R572W	ENSP00000272849:R572W	R	+	1	2	NRP2	206318787	1.000000	0.71417	0.992000	0.48379	0.062000	0.15995	1.364000	0.34171	0.315000	0.23110	0.655000	0.94253	CGG		0.582	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
ZDBF2	57683	broad.mit.edu	37	2	207174480	207174480	+	Missense_Mutation	SNP	C	C	T	rs201499131		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:207174480C>T	ENST00000374423.3	+	5	5614	c.5228C>T	c.(5227-5229)cCg>cTg	p.P1743L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1743							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P1743L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCTGTGAACCGGATGGTTTT	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20028	0.0		0.0	False		,,,				2504	0.0				p.P1743L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5228T	2						.						70.0	70.0	70.0					2																	207174480		1867	4097	5964	206882725	SO:0001583	missense	57683	exon5			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.5228C>T	2.37:g.207174480C>T	ENSP00000363545:p.Pro1743Leu	Somatic		Capture	Illumina HiSeq	Phase_I	206882725	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.655	1.142697	0.21205	.	.	ENSG00000204186	ENST00000374423	T	0.47177	0.85	4.19	3.32	0.38043	.	.	.	.	.	T	0.29458	0.0734	N	0.12182	0.205	0.09310	N	1	B	0.20164	0.042	B	0.12156	0.007	T	0.15954	-1.0419	9	0.38643	T	0.18	.	10.5798	0.45248	0.0:0.9033:0.0:0.0967	.	1743	Q9HCK1	ZDBF2_HUMAN	L	1743	ENSP00000363545:P1743L	ENSP00000363545:P1743L	P	+	2	0	ZDBF2	206882725	0.000000	0.05858	0.023000	0.16930	0.007000	0.05969	0.008000	0.13197	1.374000	0.46228	-0.143000	0.13931	CCG		0.433	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
IGFBP5	3488	broad.mit.edu	37	2	217559463	217559463	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:217559463G>A	ENST00000233813.4	-	1	785	c.36C>T	c.(34-36)gcC>gcT	p.A12A	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	12					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)	p.A12A(1)		endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCATAGGCGGCCAGCAGCA	0.682																																					p.A12A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C36T	2						.						4.0	5.0	5.0					2																	217559463		1885	3946	5831	217267708	SO:0001819	synonymous_variant	3488	exon1				CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.36C>T	2.37:g.217559463G>A		Somatic		Capture	Illumina HiSeq	Phase_I	217267708	NM_000599	Q5U0A3	Silent	SNP	ENST00000233813.4	37	CCDS2405.1																																																																																				0.682	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599	
TNS1	7145	broad.mit.edu	37	2	218683269	218683269	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:218683269C>T	ENST00000171887.4	-	24	3926	c.3474G>A	c.(3472-3474)ccG>ccA	p.P1158P	TNS1_ENST00000419504.1_Silent_p.P1145P|TNS1_ENST00000430930.1_Silent_p.P1137P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1158	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.P1158P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTGGCTTTCCGGAGAGGAGC	0.612																																					p.P1158P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3474A	2						.						55.0	59.0	58.0					2																	218683269		2203	4300	6503	218391514	SO:0001819	synonymous_variant	7145	exon24			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3474G>A	2.37:g.218683269C>T		Somatic		Capture	Illumina HiSeq	Phase_I	218391514	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
ZNF142	7701	broad.mit.edu	37	2	219513691	219513691	+	Missense_Mutation	SNP	G	G	A	rs537151479		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:219513691G>A	ENST00000449707.1	-	6	1361	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	ZNF142_ENST00000411696.2_Missense_Mutation_p.R314W	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	314					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.R151W(1)|p.R314W(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCACAGCCCGCACCCCATGG	0.607											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19327	0.001		0.0	False		,,,				2504	0.0				p.R314W	Colon(170;867 1942 8995 15834 18053)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C940T	2						.						43.0	46.0	45.0					2																	219513691		2007	4176	6183	219221935	SO:0001583	missense	7701	exon6			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.940C>T	2.37:g.219513691G>A	ENSP00000408643:p.Arg314Trp	Somatic	2259	Capture	Illumina HiSeq	Phase_I	219221935	NM_001105537	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299047	0.40694	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.13196	2.61;2.61	5.35	5.35	0.76521	.	0.283345	0.36200	N	0.002731	T	0.17534	0.0421	M	0.62723	1.935	0.30491	N	0.77133	B;B	0.19935	0.04;0.027	B;B	0.15870	0.007;0.014	T	0.02625	-1.1132	10	0.56958	D	0.05	-6.7526	14.2742	0.66170	0.0:0.0:0.8177:0.1823	.	314;151	P52746;A8MWU9	ZN142_HUMAN;.	W	314	ENSP00000408643:R314W;ENSP00000398798:R314W	ENSP00000398798:R314W	R	-	1	2	ZNF142	219221935	0.998000	0.40836	0.982000	0.44146	0.888000	0.51559	2.933000	0.48948	2.941000	0.99782	0.655000	0.94253	CGG		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
PTPRN	5798	broad.mit.edu	37	2	220161218	220161218	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:220161218C>T	ENST00000295718.2	-	17	2571	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	PTPRN_ENST00000423636.2_Missense_Mutation_p.M687I|AC114803.3_ENST00000417355.1_RNA|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.M748I|PTPRN_ENST00000497977.1_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	777	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	p.M777I(1)		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)		TGTAGGCTGGCATCCGAGGGT	0.597																																					p.M687I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2061A	2						.						77.0	69.0	72.0					2																	220161218		2203	4300	6503	219869462	SO:0001583	missense	5798	exon17				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.2331G>A	2.37:g.220161218C>T	ENSP00000295718:p.Met777Ile	Somatic		Capture	Illumina HiSeq	Phase_I	219869462	NM_001199764	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654732	0.47467	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.13307	2.6;2.6;2.6	4.56	4.56	0.56223	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.179769	0.46442	D	0.000285	T	0.14056	0.0340	N	0.03029	-0.43	0.53688	D	0.999973	P;B	0.45957	0.869;0.235	P;B	0.59487	0.858;0.114	T	0.48043	-0.9069	10	0.22109	T	0.4	.	17.3328	0.87271	0.0:1.0:0.0:0.0	.	748;777	Q6NSL1;Q16849	.;PTPRN_HUMAN	I	748;777;748;687	ENSP00000386638:M748I;ENSP00000295718:M777I;ENSP00000444244:M687I	ENSP00000295718:M777I	M	-	3	0	PTPRN	219869462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.995000	0.49441	2.245000	0.73994	0.655000	0.94253	ATG		0.597	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
PTPRN	5798	broad.mit.edu	37	2	220164951	220164951	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:220164951T>C	ENST00000295718.2	-	9	1432	c.1192A>G	c.(1192-1194)Aca>Gca	p.T398A	PTPRN_ENST00000423636.2_Missense_Mutation_p.T308A|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.T398A	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	398					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)	p.T398A(1)		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)		AGCTCTGCTGTGTCTCTGCCC	0.637																																					p.T308A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A922G	2						.						50.0	54.0	53.0					2																	220164951		2203	4300	6503	219873195	SO:0001583	missense	5798	exon9				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.1192A>G	2.37:g.220164951T>C	ENSP00000295718:p.Thr398Ala	Somatic		Capture	Illumina HiSeq	Phase_I	219873195	NM_001199764	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	T	8.603	0.887217	0.17540	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.21932	1.98;1.98;1.98	4.38	-3.11	0.05299	.	1.246890	0.05616	N	0.578952	T	0.10423	0.0255	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33929	-0.9849	10	0.08381	T	0.77	.	5.5266	0.16960	0.0:0.3787:0.3023:0.319	.	398;398	Q6NSL1;Q16849	.;PTPRN_HUMAN	A	398;398;398;308	ENSP00000386638:T398A;ENSP00000295718:T398A;ENSP00000444244:T308A	ENSP00000295718:T398A	T	-	1	0	PTPRN	219873195	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	-0.451000	0.06795	-0.791000	0.04486	0.459000	0.35465	ACA		0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
SLC4A3	6508	broad.mit.edu	37	2	220504378	220504378	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:220504378C>T	ENST00000358055.3	+	20	3710	c.3198C>T	c.(3196-3198)gcC>gcT	p.A1066A	SLC4A3_ENST00000373762.3_Silent_p.A1093A|SLC4A3_ENST00000373760.2_Silent_p.A1066A|SLC4A3_ENST00000273063.6_Silent_p.A1093A|SLC4A3_ENST00000317151.3_Silent_p.A1066A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1066	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.A1093A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCGTACTGCCATCGCGCCTG	0.667																																					p.A1066A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3198T	2						.						69.0	56.0	60.0					2																	220504378		2203	4300	6503	220212622	SO:0001819	synonymous_variant	6508	exon20				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3198C>T	2.37:g.220504378C>T		Somatic		Capture	Illumina HiSeq	Phase_I	220212622	NM_005070	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	CCDS2445.1																																																																																				0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	
DOCK10	55619	broad.mit.edu	37	2	225634975	225634975	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:225634975G>A	ENST00000258390.7	-	55	6464	c.6397C>T	c.(6397-6399)Cac>Tac	p.H2133Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.H2127Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2133	DHR-2.				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)	p.H640Y(1)|p.H2131Y(1)		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)		TCCTTGTAGTGGGACCTCAGT	0.542																																					p.H2133Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6397T	2						.						108.0	106.0	106.0					2																	225634975		2092	4213	6305	225343219	SO:0001583	missense	55619	exon55			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.6397C>T	2.37:g.225634975G>A	ENSP00000258390:p.His2133Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	225343219	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159833	0.78226	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.17054	2.3;2.3	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.44542	1.39	0.44918	D	0.997934	D;D;D	0.55172	0.97;0.97;0.967	D;D;P	0.66847	0.947;0.947;0.745	T	0.05068	-1.0908	10	0.87932	D	0	.	19.1469	0.93472	0.0:0.0:1.0:0.0	.	2133;2127;795	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	Y	2127;2133;640	ENSP00000386694:H2127Y;ENSP00000258390:H2133Y	ENSP00000258390:H2133Y	H	-	1	0	DOCK10	225343219	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.514000	0.67043	2.531000	0.85337	0.563000	0.77884	CAC		0.542	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
SP140	11262	broad.mit.edu	37	2	231134639	231134639	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:231134639C>T	ENST00000392045.3	+	14	1529	c.1415C>T	c.(1414-1416)aCg>aTg	p.T472M	SP140_ENST00000350136.5_Missense_Mutation_p.T341M|SP140_ENST00000486687.2_Missense_Mutation_p.T396M|SP140_ENST00000417495.3_Missense_Mutation_p.T358M|SP140_ENST00000343805.6_Missense_Mutation_p.T412M|SP140_ENST00000420434.3_Missense_Mutation_p.T445M	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	472					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T472M(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAGCAAGGACGGAAAGTGAT	0.557																																					p.T472M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1415T	2						.						90.0	95.0	94.0					2																	231134639		2060	4224	6284	230842883	SO:0001583	missense	11262	exon14			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1415C>T	2.37:g.231134639C>T	ENSP00000375899:p.Thr472Met	Somatic		Capture	Illumina HiSeq	Phase_I	230842883	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.540|2.540	-0.306617|-0.306617	0.05458|0.05458	.|.	.|.	ENSG00000079263|ENSG00000079263	ENST00000392044|ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	.|T;T;T;T;T	.|0.57273	.|0.6;0.74;0.69;0.41;0.68	3.5|3.5	-6.94|-6.94	0.01633|0.01633	.|.	.|.	.|.	.|.	.|.	T|T	0.31040|0.31040	0.0784|0.0784	L|L	0.28344|0.28344	0.845|0.845	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.27286	.|0.174;0.015;0.025;0.015	.|B;B;B;B	.|0.20955	.|0.032;0.009;0.02;0.009	T|T	0.12091|0.12091	-1.0561|-1.0561	6|9	0.87932|0.33141	D|T	0|0.24	-1.5864|-1.5864	8.2093|8.2093	0.31473|0.31473	0.0:0.2744:0.1154:0.6103|0.0:0.2744:0.1154:0.6103	.|.	.|445;358;412;472	.|E7EUR5;E7ESH9;E9PFJ6;Q13342	.|.;.;.;LY10_HUMAN	W|M	375|396;341;472;358;412;445	.|ENSP00000440107:T396M;ENSP00000345846:T341M;ENSP00000375899:T472M;ENSP00000342096:T412M;ENSP00000398210:T445M	ENSP00000375898:R375W|ENSP00000342096:T412M	R|T	+|+	1|2	2|0	SP140|SP140	230842883|230842883	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-1.185000|-1.185000	0.03073|0.03073	-1.977000|-1.977000	0.00994|0.00994	-1.858000|-1.858000	0.00562|0.00562	CGG|ACG		0.557	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
UGT1A6	54578	broad.mit.edu	37	2	234652471	234652471	+	Intron	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:234652471T>C	ENST00000305139.6	+	2	1000				UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTTGTCGGGGTGCCACTTGAG	0.602																																					p.H31R												.	.	0			c.A92G	2						.						88.0	102.0	98.0					2																	234652471		2150	4256	6406	234317210	SO:0001627	intron_variant	414061	exon1			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23209T>C	2.37:g.234652471T>C		Somatic		Capture	Illumina HiSeq	Phase_I	234317210	NM_001001394	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1																																																																																				0.602	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
PXDN	7837	broad.mit.edu	37	2	1652984	1652984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:1652984delG	ENST00000252804.4	-	17	2618	c.2568delC	c.(2566-2568)cccfs	p.P856fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	856					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.C857fs*5(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGAGAAGCAGGGGGGGTCGT	0.662																																					p.P856fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2568delC	2						.						21.0	24.0	23.0					2																	1652984		2159	4257	6416	1631991	SO:0001589	frameshift_variant	7837	exon17			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2568delC	2.37:g.1652984delG	ENSP00000252804:p.Pro856fs	Somatic		Capture	Illumina HiSeq	Phase_I	1631991	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Del	DEL	ENST00000252804.4	37	CCDS46221.1																																																																																				0.662	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
COLEC11	78989	broad.mit.edu	37	2	3691409	3691409	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:3691409C>T	ENST00000349077.4	+	7	620	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	COLEC11_ENST00000236693.7_Missense_Mutation_p.R170C|COLEC11_ENST00000404205.1_Missense_Mutation_p.R99C|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000382062.2_Missense_Mutation_p.R149C|COLEC11_ENST00000418971.2_Missense_Mutation_p.R187C|COLEC11_ENST00000403096.3_Missense_Mutation_p.R147C|COLEC11_ENST00000402794.1_Missense_Mutation_p.R123C|COLEC11_ENST00000402922.1_Missense_Mutation_p.R123C	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	173	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.R170C(1)|p.R187C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTGCCAGGGCCGCGGGGGCAC	0.672																																					p.R170C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C508T	2						.						31.0	33.0	32.0					2																	3691409		2203	4298	6501	3669284	SO:0001583	missense	78989	exon8			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.517C>T	2.37:g.3691409C>T	ENSP00000339168:p.Arg173Cys	Somatic		Capture	Illumina HiSeq	Phase_I	3669284	NM_199235	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651144	0.29336	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.2	0.839	0.18907	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	M	0.91038	3.17	0.54753	D	0.999985	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	0.91635	0.998;0.999;0.999;0.995;0.999;0.999;0.997;0.997;0.985	T	0.45160	-0.9280	10	0.46703	T	0.11	-17.5916	9.1386	0.36890	0.4207:0.5024:0.0:0.0769	.	99;123;123;147;125;149;149;173;170	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	C	149;170;173;187;147;123;99;123	ENSP00000371494:R149C;ENSP00000236693:R170C;ENSP00000339168:R173C;ENSP00000411770:R187C;ENSP00000385130:R147C;ENSP00000384882:R123C;ENSP00000385827:R99C;ENSP00000385653:R123C	ENSP00000236693:R170C	R	+	1	0	COLEC11	3669284	0.911000	0.30947	0.018000	0.16275	0.000000	0.00434	1.002000	0.29796	0.559000	0.29153	-0.373000	0.07131	CGC		0.672	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027	
ASAP2	8853	broad.mit.edu	37	2	9540956	9540956	+	Silent	SNP	G	G	A	rs533619678		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:9540956G>A	ENST00000281419.3	+	26	3160	c.2820G>A	c.(2818-2820)caG>caA	p.Q940Q	ASAP2_ENST00000315273.4_Silent_p.Q895Q	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	940					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.Q940Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGAAGTCGCAGGCAGTAAGTG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		15488	0.001		0.0	False		,,,				2504	0.0				p.Q895Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2685A	2						.						80.0	70.0	73.0					2																	9540956		2199	4298	6497	9458407	SO:0001819	synonymous_variant	8853	exon25			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2820G>A	2.37:g.9540956G>A		Somatic		Capture	Illumina HiSeq	Phase_I	9458407	NM_001135191	D6W4Y8	Silent	SNP	ENST00000281419.3	37	CCDS1661.1																																																																																				0.587	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	
CPSF3	51692	broad.mit.edu	37	2	9611523	9611523	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:9611523C>T	ENST00000238112.3	+	17	2114	c.1908C>T	c.(1906-1908)agC>agT	p.S636S	CPSF3_ENST00000460593.1_Silent_p.S599S|IAH1_ENST00000482918.1_5'Flank|CPSF3_ENST00000489403.1_3'UTR	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	636					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.S636S(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CTATTCTTAGCGTCACAGTGG	0.418																																					p.S636S	Colon(194;1259 2048 3845 5218 19985)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1908T	2						.						187.0	161.0	170.0					2																	9611523		2203	4300	6503	9528974	SO:0001819	synonymous_variant	51692	exon17			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1908C>T	2.37:g.9611523C>T		Somatic		Capture	Illumina HiSeq	Phase_I	9528974	NM_016207	O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	CCDS1664.1																																																																																				0.418	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207	
MFSD2B	388931	broad.mit.edu	37	2	24246562	24246562	+	Missense_Mutation	SNP	G	G	A	rs531128708		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:24246562G>A	ENST00000406420.3	+	12	1295	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A427T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	427					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A427T(2)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCTGTCTGGCGCATGTGCCCT	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18023	0.0		0.0	False		,,,				2504	0.0				p.A427T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1279A	2						.						157.0	159.0	158.0					2																	24246562		2151	4253	6404	24100066	SO:0001583	missense	388931	exon12				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1279G>A	2.37:g.24246562G>A	ENSP00000385527:p.Ala427Thr	Somatic		Capture	Illumina HiSeq	Phase_I	24100066	NM_001080473	B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632845	0.67015	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.89123	-2.47;-2.47	5.28	5.28	0.74379	Major facilitator superfamily domain, general substrate transporter (1);	0.049325	0.85682	D	0.000000	D	0.88463	0.6443	L	0.40543	1.245	0.46478	D	0.999064	P	0.51933	0.949	P	0.49047	0.599	D	0.89859	0.4015	10	0.87932	D	0	-13.9519	16.782	0.85565	0.0:0.0:1.0:0.0	.	427	A6NFX1	MFS2B_HUMAN	T	427	ENSP00000385527:A427T;ENSP00000342501:A427T	ENSP00000342501:A427T	A	+	1	0	MFSD2B	24100066	1.000000	0.71417	0.161000	0.22692	0.016000	0.09150	9.752000	0.98900	2.646000	0.89796	0.555000	0.69702	GCA		0.602	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473	
MEMO1	51072	broad.mit.edu	37	2	32157144	32157144	+	Silent	SNP	C	C	T	rs140215147	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:32157144C>T	ENST00000295065.5	-	3	513	c.204G>A	c.(202-204)ccG>ccA	p.P68P	MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000426310.2_Intron|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000407893.3_Silent_p.P68P|MEMO1_ENST00000404530.1_Silent_p.P68P|MEMO1_ENST00000379383.3_Silent_p.P71P	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	68					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.P68P(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ACGTAATAGACGGATCCACTT	0.313																																					p.P68P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G204A	2						.	C	,	0,4406		0,0,2203	84.0	84.0	84.0		,204	3.2	1.0	2	dbSNP_134	84	9,8591	7.1+/-27.0	0,9,4291	no	intron,coding-synonymous	MEMO1	NM_001137602.1,NM_015955.2	,	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	,	,68/298	32157144	9,12997	2203	4300	6503	32010648	SO:0001819	synonymous_variant	51072	exon3			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.204G>A	2.37:g.32157144C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32010648	NM_015955	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Silent	SNP	ENST00000295065.5	37	CCDS1776.1																																																																																				0.313	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955	
RMDN2	151393	broad.mit.edu	37	2	38202382	38202382	+	Nonsense_Mutation	SNP	C	C	T	rs141660653	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:38202382C>T	ENST00000406384.1	+	4	849	c.655C>T	c.(655-657)Cga>Tga	p.R219*	RMDN2_ENST00000234195.3_Nonsense_Mutation_p.R397*|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Nonsense_Mutation_p.R74*|RMDN2_ENST00000407257.1_Nonsense_Mutation_p.R397*|RMDN2_ENST00000354545.2_Nonsense_Mutation_p.R219*	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	219						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.R397*(1)									GTTTATGTGGCGATTTGCTCG	0.318																																					p.R74X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C220T	2						.	C	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	119.0	115.0	116.0		655,655,220,1189	1.9	1.0	2	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained,stop-gained,stop-gained,stop-gained	FAM82A1	NM_001170791.1,NM_001170792.1,NM_001170793.1,NM_144713.3	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	219/411,219/411,74/266,397/574	38202382	2,13004	2203	4300	6503	38055886	SO:0001587	stop_gained	151393	exon3			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.655C>T	2.37:g.38202382C>T	ENSP00000386004:p.Arg219*	Somatic		Capture	Illumina HiSeq	Phase_I	38055886	NM_001170793	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Nonsense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	C	37	6.013704	0.97200	0.0	2.33E-4	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	.	.	.	4.98	1.87	0.25490	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3999	0.44222	0.551:0.449:0.0:0.0	.	.	.	.	X	219;219;397;74;397;74	.	ENSP00000234195:R397X	R	+	1	2	FAM82A1	38055886	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	1.356000	0.34079	0.647000	0.30713	0.563000	0.77884	CGA		0.318	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713	
SLC8A1	6546	broad.mit.edu	37	2	40657285	40657285	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:40657285T>C	ENST00000403092.1	-	2	169	c.136A>G	c.(136-138)Act>Gct	p.T46A	SLC8A1_ENST00000405901.3_Missense_Mutation_p.T46A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T46A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T46A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T46A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T46A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T46A|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T46A|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T46A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T46A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	46					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T46A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATTCACCAGTTTCATTTCCT	0.408																																					p.T46A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A136G	2						.						137.0	135.0	135.0					2																	40657285		2203	4300	6503	40510789	SO:0001583	missense	6546	exon1				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.136A>G	2.37:g.40657285T>C	ENSP00000384763:p.Thr46Ala	Somatic		Capture	Illumina HiSeq	Phase_I	40510789	NM_001112800	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.959633	0.53400	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.27104	1.7;1.73;1.74;1.73;1.7;1.7;1.74;1.69;1.7;1.71	6.04	6.04	0.98038	.	0.213256	0.47852	D	0.000218	T	0.17152	0.0412	N	0.22421	0.69	0.41515	D	0.988361	B;B;B;B;B	0.19583	0.002;0.001;0.001;0.006;0.037	B;B;B;B;B	0.18871	0.007;0.002;0.003;0.023;0.013	T	0.08806	-1.0704	10	0.08837	T	0.75	.	14.5406	0.67990	0.0:0.0:0.0:1.0	.	46;46;46;46;46	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	A	46	ENSP00000383886:T46A;ENSP00000440727:T46A;ENSP00000384763:T46A;ENSP00000385678:T46A;ENSP00000385188:T46A;ENSP00000385535:T46A;ENSP00000332931:T46A;ENSP00000384908:T46A;ENSP00000385811:T46A;ENSP00000443515:T46A	ENSP00000332931:T46A	T	-	1	0	SLC8A1	40510789	0.951000	0.32395	0.786000	0.31890	0.983000	0.72400	1.528000	0.35985	2.317000	0.78254	0.460000	0.39030	ACT		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
NRXN1	9378	broad.mit.edu	37	2	50699546	50699546	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:50699546G>T	ENST00000406316.2	-	16	4610	c.3134C>A	c.(3133-3135)gCc>gAc	p.A1045D	NRXN1_ENST00000405472.3_Missense_Mutation_p.A1037D|NRXN1_ENST00000401710.1_Missense_Mutation_p.A54D|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1045D|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1045D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.A1085D|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1037D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1045	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A1086D(1)|p.A1045D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTTCTTTGGCATGTACAAG	0.423																																					p.A1085D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3254A	2						.						96.0	94.0	94.0					2																	50699546		1863	4099	5962	50553050	SO:0001583	missense	9378	exon17			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3134C>A	2.37:g.50699546G>T	ENSP00000384311:p.Ala1045Asp	Somatic		Capture	Illumina HiSeq	Phase_I	50553050	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750495	0.89753	.	.	ENSG00000179915	ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T	0.79749	-1.28;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.42	5.42	0.78866	.	0.112278	0.64402	D	0.000012	D	0.82907	0.5139	L	0.34521	1.04	0.45129	D	0.998144	P;D;P	0.54397	0.692;0.966;0.932	P;P;P	0.57009	0.457;0.723;0.811	T	0.82208	-0.0571	10	0.41790	T	0.15	.	19.6002	0.95559	0.0:0.0:1.0:0.0	.	1085;1045;1037	Q9ULB1-3;F8WB18;A7E294	.;.;.	D	54;1085;1045;1037;1045;1086;1037;1045	ENSP00000385580:A54D;ENSP00000385142:A1085D;ENSP00000384311:A1045D;ENSP00000434015:A1037D;ENSP00000385017:A1045D;ENSP00000385434:A1037D;ENSP00000385681:A1045D	ENSP00000385017:A1045D	A	-	2	0	NRXN1	50553050	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.813000	0.99286	2.691000	0.91804	0.655000	0.94253	GCC		0.423	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
PAPOLG	64895	broad.mit.edu	37	2	61010310	61010310	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:61010310G>A	ENST00000238714.3	+	13	1381	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	378					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.A378T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGTATTGACTGCCAGCGCATC	0.353																																					p.A378T	GBM(183;1497 2932 21839 46797)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1132A	2						.						76.0	81.0	79.0					2																	61010310		2203	4300	6503	60863814	SO:0001583	missense	64895	exon13			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1132G>A	2.37:g.61010310G>A	ENSP00000238714:p.Ala378Thr	Somatic		Capture	Illumina HiSeq	Phase_I	60863814	NM_022894	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857674	0.91433	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.02	5.02	0.67125	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	M	0.75264	2.295	0.58432	D	0.999998	D;P	0.69078	0.997;0.847	D;P	0.79784	0.993;0.514	T	0.78463	-0.2194	9	0.59425	D	0.04	-1.0798	11.7941	0.52088	0.0821:0.0:0.9179:0.0	.	67;378	E9PEP5;Q9BWT3	.;PAPOG_HUMAN	T	378;67;46	.	ENSP00000238714:A378T	A	+	1	0	PAPOLG	60863814	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.879000	0.87236	2.465000	0.83290	0.557000	0.71058	GCC		0.353	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	
VPS54	51542	broad.mit.edu	37	2	64169625	64169625	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:64169625A>G	ENST00000272322.4	-	11	1526	c.1372T>C	c.(1372-1374)Ttt>Ctt	p.F458L	VPS54_ENST00000409558.4_Missense_Mutation_p.F446L|VPS54_ENST00000354504.3_Missense_Mutation_p.F305L			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	458					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.F458L(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AAAATTGTAAACTTAGAGAAA	0.294																																					p.F458L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1372C	2						.						27.0	28.0	28.0					2																	64169625		2203	4294	6497	64023129	SO:0001583	missense	51542	exon11			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1372T>C	2.37:g.64169625A>G	ENSP00000272322:p.Phe458Leu	Somatic		Capture	Illumina HiSeq	Phase_I	64023129	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415711	0.42817	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.21031	2.14;2.06;2.03	5.24	5.24	0.73138	.	0.045326	0.85682	D	0.000000	T	0.10723	0.0262	N	0.11427	0.14	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.07693	-1.0759	10	0.02654	T	1	.	15.4305	0.75092	1.0:0.0:0.0:0.0	.	305;458;446	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	L	305;458;446;446;458	ENSP00000346499:F305L;ENSP00000272322:F458L;ENSP00000386980:F446L	ENSP00000272322:F458L	F	-	1	0	VPS54	64023129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.453000	0.80700	2.106000	0.64143	0.528000	0.53228	TTT		0.294	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516	
VAMP5	10791	broad.mit.edu	37	2	85820200	85820200	+	Missense_Mutation	SNP	G	G	A	rs193102078		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:85820200G>A	ENST00000306384.4	+	3	354	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	RNF181_ENST00000441634.1_5'Flank|RNF181_ENST00000306368.4_5'Flank	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	91					cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.V91I(1)		NS(1)|large_intestine(3)|lung(1)	5						GCTGCTGGTCGTCTTTCTCCC	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18703	0.0		0.0	False		,,,				2504	0.0				p.V91I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271A	2						.						304.0	238.0	260.0					2																	85820200		2203	4300	6503	85673711	SO:0001583	missense	10791	exon3			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.271G>A	2.37:g.85820200G>A	ENSP00000305647:p.Val91Ile	Somatic		Capture	Illumina HiSeq	Phase_I	85673711	NM_006634	Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	CCDS1980.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	1.884	-0.457073	0.04540	.	.	ENSG00000168899	ENST00000306384	.	.	.	5.01	-8.9	0.00782	.	1.228000	0.05742	N	0.601592	T	0.19565	0.0470	N	0.11064	0.09	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.26916	-1.0089	9	0.17832	T	0.49	.	11.9956	0.53201	0.2098:0.0:0.6731:0.1171	.	91	O95183	VAMP5_HUMAN	I	91	.	ENSP00000305647:V91I	V	+	1	0	VAMP5	85673711	0.000000	0.05858	0.003000	0.11579	0.511000	0.34104	-3.725000	0.00382	-1.274000	0.02421	-0.345000	0.07892	GTC		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634	
SNRNP200	23020	broad.mit.edu	37	2	96940827	96940827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:96940827C>T	ENST00000323853.5	-	45	6411	c.6334G>A	c.(6334-6336)Gct>Act	p.A2112T	SNRNP200_ENST00000349783.5_Missense_Mutation_p.A601T	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2112	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.A2112T(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCCATGTAAGCGTCACTCATG	0.478																																					p.A2112T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6334A	2						.						148.0	134.0	139.0					2																	96940827		2203	4300	6503	96304554	SO:0001583	missense	23020	exon45			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.6334G>A	2.37:g.96940827C>T	ENSP00000317123:p.Ala2112Thr	Somatic		Capture	Illumina HiSeq	Phase_I	96304554	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939053	0.73557	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000536601;ENST00000543553	T;T	0.60040	0.22;0.22	5.49	4.61	0.57282	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	L	0.41632	1.29	0.26185	N	0.979665	P	0.41947	0.766	B	0.38428	0.273	T	0.50101	-0.8867	10	0.87932	D	0	-10.8436	12.3451	0.55116	0.0:0.9181:0.0:0.0819	.	2112	O75643	U520_HUMAN	T	2112;601;571;695	ENSP00000317123:A2112T;ENSP00000326937:A601T	ENSP00000317123:A2112T	A	-	1	0	SNRNP200	96304554	1.000000	0.71417	0.205000	0.23548	0.983000	0.72400	7.548000	0.82154	1.329000	0.45376	0.650000	0.86243	GCT		0.478	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
KANSL3	55683	broad.mit.edu	37	2	97285259	97285259	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:97285259C>T	ENST00000431828.1	-	5	576	c.500G>A	c.(499-501)cGc>cAc	p.R167H	KANSL3_ENST00000599854.1_Missense_Mutation_p.R80H|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000435669.1_Missense_Mutation_p.R80H|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.R80H			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	167					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R167H(1)									AGCAACACGGCGCAGCACTGG	0.537																																					p.R167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	2						.						56.0	55.0	55.0					2																	97285259		2129	4239	6368	96648986	SO:0001583	missense	55683	exon5			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.500G>A	2.37:g.97285259C>T	ENSP00000396749:p.Arg167His	Somatic		Capture	Illumina HiSeq	Phase_I	96648986	NM_001115016	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834523	0.91036	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000452268;ENST00000435669	T	0.61742	0.08	5.49	4.61	0.57282	.	0.053005	0.85682	N	0.000000	T	0.72550	0.3474	M	0.67397	2.05	0.58432	D	0.999999	B;D;B	0.89917	0.163;1.0;0.163	B;D;B	0.87578	0.029;0.998;0.029	T	0.75311	-0.3362	10	0.87932	D	0	.	12.0333	0.53410	0.0:0.9162:0.0:0.0838	.	167;80;55	Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.	H	80;55;167;80;80;80	ENSP00000396749:R167H	ENSP00000346144:R80H	R	-	2	0	KIAA1310	96648986	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	7.713000	0.84693	1.318000	0.45170	0.655000	0.94253	CGC		0.537	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	
CNGA3	1261	broad.mit.edu	37	2	99012744	99012744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:99012744delC	ENST00000272602.2	+	7	1150	c.1111delC	c.(1111-1113)cccfs	p.P372fs	CNGA3_ENST00000393504.1_Frame_Shift_Del_p.P372fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.P376fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.P354fs			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	372			P -> S (in ACHM2). {ECO:0000269|PubMed:11536077}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.V373fs*1(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGAGACCCCACCCCCCGTGAA	0.517																																					p.P371fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1111delC	2						.						76.0	75.0	75.0					2																	99012744		2203	4300	6503	98379176	SO:0001589	frameshift_variant	1261	exon8			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1111delC	2.37:g.99012744delC	ENSP00000272602:p.Pro372fs	Somatic		Capture	Illumina HiSeq	Phase_I	98379176	NM_001298	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Frame_Shift_Del	DEL	ENST00000272602.2	37	CCDS2034.1																																																																																				0.517	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	
AFF3	3899	broad.mit.edu	37	2	100182039	100182039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:100182039G>T	ENST00000409236.2	-	18	3141	c.3029C>A	c.(3028-3030)tCg>tAg	p.S1010*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.S1035*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.S1035*|AFF3_ENST00000317233.4_Nonsense_Mutation_p.S1010*			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1010					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S1035*(1)|p.S1035L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTCGATAAACGACAATGCTGC	0.398																																					p.S1035X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	cervix(1)|large_intestine(1)	c.C3104A	2						.						169.0	156.0	160.0					2																	100182039		2203	4300	6503	99548471	SO:0001587	stop_gained	3899	exon19			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3029C>A	2.37:g.100182039G>T	ENSP00000387207:p.Ser1010*	Somatic		Capture	Illumina HiSeq	Phase_I	99548471	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Nonsense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	43	9.959898	0.99305	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	.	.	.	5.67	5.67	0.87782	.	0.070354	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1272	0.97986	0.0:0.0:1.0:0.0	.	.	.	.	X	1010;1035;1035;1010;52	.	ENSP00000317421:S1010X	S	-	2	0	AFF3	99548471	1.000000	0.71417	0.947000	0.38551	0.646000	0.38490	9.772000	0.98984	2.828000	0.97474	0.655000	0.94253	TCG		0.398	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
LRP1B	53353	broad.mit.edu	37	2	141812783	141812783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:141812783delC	ENST00000389484.3	-	10	2425	c.1454delG	c.(1453-1455)ggcfs	p.G485fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	485	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G485fs*56(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGTGAACAGCCCCCTGGCAT	0.443										TSP Lung(27;0.18)																											p.G485fs	Colon(99;50 2074 2507 20106)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1454delG	2						.						113.0	100.0	104.0					2																	141812783		2203	4300	6503	141529253	SO:0001589	frameshift_variant	53353	exon10			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1454delG	2.37:g.141812783delC	ENSP00000374135:p.Gly485fs	Somatic		Capture	Illumina HiSeq	Phase_I	141529253	NM_018557	Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	CCDS2182.1																																																																																				0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
TTN	7273	broad.mit.edu	37	2	179544089	179544089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:179544089delT	ENST00000591111.1	-	140	32992	c.32768delA	c.(32767-32769)aagfs	p.K10923fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.K9996fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K11240fs|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11694	Glu-rich.|Pro-rich.				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.K9996fs*104(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)			AGGCTTCTCCTTTTTAGGAAT	0.403																																					p.K9996fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.29987delA	2						.						111.0	105.0	107.0					2																	179544089		1849	4101	5950	179252334	SO:0001589	frameshift_variant	7273	exon139			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.32768delA	2.37:g.179544089delT	ENSP00000465570:p.Lys10923fs	Somatic		Capture	Illumina HiSeq	Phase_I	179252334	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PMS1	5378	broad.mit.edu	37	2	190719401	190719401	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:190719401delA	ENST00000441310.2	+	9	1636	c.1403delA	c.(1402-1404)gaafs	p.E468fs	PMS1_ENST00000432292.3_Frame_Shift_Del_p.E292fs|PMS1_ENST00000409823.3_Frame_Shift_Del_p.E429fs|PMS1_ENST00000447232.2_Frame_Shift_Del_p.E468fs|PMS1_ENST00000418224.3_Frame_Shift_Del_p.E292fs|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	468					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.N469fs*7(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACCCAGTCAGAAAATGGCAAT	0.403			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																													p.E468fs		yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1403delA	2						.						54.0	58.0	56.0					2																	190719401		2202	4297	6499	190427646	SO:0001589	frameshift_variant	5378	exon9				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1403delA	2.37:g.190719401delA	ENSP00000406490:p.Glu468fs	Somatic		Capture	Illumina HiSeq	Phase_I	190427646	NM_000534	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Frame_Shift_Del	DEL	ENST00000441310.2	37	CCDS2302.1																																																																																				0.403	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
PARD3B	117583	broad.mit.edu	37	2	206166298	206166298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:206166298delA	ENST00000406610.2	+	18	2710	c.2503delA	c.(2503-2505)aaafs	p.K836fs	PARD3B_ENST00000358768.2_Frame_Shift_Del_p.K774fs|PARD3B_ENST00000349953.3_Frame_Shift_Del_p.K836fs|PARD3B_ENST00000351153.1_Frame_Shift_Del_p.K767fs|PARD3B_ENST00000462231.1_Frame_Shift_Del_p.K836fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	836	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.T776fs*13(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGGAAAGTCAAAAAAACgaa	0.423																																					p.K766fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2296delA	2						.						73.0	71.0	72.0					2																	206166298		1812	4086	5898	205874543	SO:0001589	frameshift_variant	117583	exon17			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2503delA	2.37:g.206166298delA	ENSP00000385848:p.Lys836fs	Somatic		Capture	Illumina HiSeq	Phase_I	205874543	NM_057177	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Del	DEL	ENST00000406610.2	37																																																																																					0.423	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
ASB18	401036	broad.mit.edu	37	2	237172833	237172833	+	Silent	SNP	G	G	A	rs199792062		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr2:237172833G>A	ENST00000409749.3	-	1	155	c.156C>T	c.(154-156)gaC>gaT	p.D52D	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	52					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.D52D(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TCATCCAGTCGTCATTGGCCA	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19629	0.0		0.0	False		,,,				2504	0.0				p.D52D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	2						.						94.0	92.0	92.0					2																	237172833		2063	4211	6274	236837572	SO:0001819	synonymous_variant	401036	exon1			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.156C>T	2.37:g.237172833G>A		Somatic		Capture	Illumina HiSeq	Phase_I	236837572	NM_212556	B6ZDL7	Silent	SNP	ENST00000409749.3	37	CCDS46548.1																																																																																				0.507	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556	
ATP2B2	491	broad.mit.edu	37	3	10387721	10387721	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:10387721G>A	ENST00000352432.4	-	16	2574	c.2505C>T	c.(2503-2505)ttC>ttT	p.F835F	ATP2B2_ENST00000397077.1_Silent_p.F790F|ATP2B2_ENST00000383800.4_Silent_p.F790F|ATP2B2_ENST00000360273.2_Silent_p.F835F|ATP2B2_ENST00000343816.4_Silent_p.F821F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	835					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.F790F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTACCATGGCGAAGCCCACGT	0.652																																					p.F790F	Ovarian(125;1619 1709 15675 19819 38835)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2370T	3						.						45.0	41.0	42.0					3																	10387721		2203	4300	6503	10362721	SO:0001819	synonymous_variant	491	exon14			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2505C>T	3.37:g.10387721G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10362721	NM_001683	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																				0.652	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
DZIP3	9666	broad.mit.edu	37	3	108394662	108394662	+	Missense_Mutation	SNP	C	C	T	rs147602420		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:108394662C>T	ENST00000361582.3	+	25	2953	c.2723C>T	c.(2722-2724)gCg>gTg	p.A908V	DZIP3_ENST00000463306.1_Missense_Mutation_p.A908V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	908					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A908V(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTAAAGGCTGCGGTAGACAGT	0.363																																					p.A908V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2723T	3						.	C	VAL/ALA	0,4406		0,0,2203	87.0	82.0	84.0		2723	4.9	1.0	3	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	DZIP3	NM_014648.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	908/1209	108394662	1,13005	2203	4300	6503	109877352	SO:0001583	missense	9666	exon25			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2723C>T	3.37:g.108394662C>T	ENSP00000355028:p.Ala908Val	Somatic		Capture	Illumina HiSeq	Phase_I	109877352	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267769	0.80469	0.0	1.16E-4	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83837	-1.77;-1.77	4.93	4.93	0.64822	.	0.000000	0.50627	D	0.000107	D	0.87974	0.6313	L	0.53249	1.67	0.36846	D	0.887671	D;D	0.89917	0.999;1.0	D;D	0.75484	0.98;0.986	D	0.88918	0.3364	10	0.41790	T	0.15	-12.4996	13.492	0.61402	0.0:1.0:0.0:0.0	.	526;908	D3DN61;Q86Y13	.;DZIP3_HUMAN	V	908	ENSP00000355028:A908V;ENSP00000419981:A908V	ENSP00000355028:A908V	A	+	2	0	DZIP3	109877352	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.343000	0.52167	2.547000	0.85894	0.491000	0.48974	GCG		0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
CD200R1	131450	broad.mit.edu	37	3	112649959	112649959	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:112649959C>T	ENST00000471858.1	-	2	359	c.127G>A	c.(127-129)Gca>Aca	p.A43T	CD200R1_ENST00000490004.1_Missense_Mutation_p.A43T|CD200R1_ENST00000440122.2_Missense_Mutation_p.A66T|CD200R1_ENST00000308611.3_Missense_Mutation_p.A66T|CD200R1_ENST00000295863.4_Intron	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	43					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A66T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TTACCTTCTGCGAGTACTTTC	0.363																																					p.A66T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G196A	3						.						151.0	142.0	145.0					3																	112649959		2202	4300	6502	114132649	SO:0001583	missense	131450	exon3			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.127G>A	3.37:g.112649959C>T	ENSP00000418928:p.Ala43Thr	Somatic		Capture	Illumina HiSeq	Phase_I	114132649	NM_138939	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	2.277	-0.365523	0.05069	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000440122;ENST00000490004	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	3.94	-7.03	0.01584	.	4.533870	0.00508	N	0.000161	T	0.05135	0.0137	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.12013	0.003;0.005;0.003;0.005	B;B;B;B	0.10450	0.005;0.005;0.002;0.003	T	0.31916	-0.9926	10	0.13108	T	0.6	.	4.8636	0.13596	0.3655:0.1565:0.0:0.478	.	43;66;43;66	Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;MO2R1_HUMAN;.	T	43;66;66;43	ENSP00000418928:A43T;ENSP00000311035:A66T;ENSP00000405733:A66T;ENSP00000418801:A43T	ENSP00000311035:A66T	A	-	1	0	CD200R1	114132649	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-5.342000	0.00130	-1.756000	0.01318	-1.268000	0.01426	GCA		0.363	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
BOC	91653	broad.mit.edu	37	3	112992115	112992115	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:112992115C>A	ENST00000495514.1	+	8	1865	c.1161C>A	c.(1159-1161)ggC>ggA	p.G387G	BOC_ENST00000355385.3_Silent_p.G387G|BOC_ENST00000273395.4_Silent_p.G387G			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	387	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G387G(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGACGAAGGCGTCTACCAGT	0.657																																					p.G387G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1161A	3						.						34.0	28.0	30.0					3																	112992115		2203	4300	6503	114474805	SO:0001819	synonymous_variant	91653	exon8			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1161C>A	3.37:g.112992115C>A		Somatic		Capture	Illumina HiSeq	Phase_I	114474805	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	CCDS2971.1																																																																																				0.657	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
GSK3B	2932	broad.mit.edu	37	3	119720928	119720928	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:119720928C>T	ENST00000264235.8	-	2	1229	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	GSK3B_ENST00000316626.5_Missense_Mutation_p.A83T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)	p.A83T(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TTCTTGATGGCGACCAGTTCT	0.358																																					p.A83T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G247A	3						.						192.0	179.0	183.0					3																	119720928		2203	4300	6503	121203618	SO:0001583	missense	2932	exon2			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.247G>A	3.37:g.119720928C>T	ENSP00000264235:p.Ala83Thr	Somatic		Capture	Illumina HiSeq	Phase_I	121203618	NM_002093	D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366545	0.95900	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.74421	-0.84;-0.84	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.92751	0.6216	10	0.87932	D	0	-10.5881	19.6142	0.95626	0.0:1.0:0.0:0.0	.	83;83	P49841;P49841-2	GSK3B_HUMAN;.	T	83	ENSP00000264235:A83T;ENSP00000324806:A83T	ENSP00000264235:A83T	A	-	1	0	GSK3B	121203618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.278000	0.78587	2.941000	0.99782	0.655000	0.94253	GCC		0.358	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		
KPNA1	3836	broad.mit.edu	37	3	122170461	122170461	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:122170461G>A	ENST00000344337.6	-	8	849	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	225	NLS binding site (major). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.R225C(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATGGTCAGGCGGTTTTGCTTT	0.383																																					p.R225C	Melanoma(12;340 801 11196 19797)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C673T	3						.						93.0	94.0	94.0					3																	122170461		2203	4300	6503	123653151	SO:0001583	missense	3836	exon8			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.673C>T	3.37:g.122170461G>A	ENSP00000343701:p.Arg225Cys	Somatic		Capture	Illumina HiSeq	Phase_I	123653151	NM_002264	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488964	0.84962	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.69561	-0.41;-0.41	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.85218	0.1025	10	0.87932	D	0	-5.1192	17.0429	0.86494	0.0:0.0:1.0:0.0	.	225	P52294	IMA1_HUMAN	C	225	ENSP00000343701:R225C;ENSP00000419890:R225C	ENSP00000343701:R225C	R	-	1	0	KPNA1	123653151	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.032000	0.64140	2.493000	0.84123	0.460000	0.39030	CGC		0.383	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264	
PLXND1	23129	broad.mit.edu	37	3	129305469	129305469	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:129305469C>T	ENST00000324093.4	-	3	1760	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	PLXND1_ENST00000393239.1_Missense_Mutation_p.A528T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	528	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A528T(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCGGAGTCTGCTGGGTCAAAC	0.622																																					p.A528T	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1582A	3						.						127.0	84.0	99.0					3																	129305469		2199	4298	6497	130788159	SO:0001583	missense	23129	exon3			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1582G>A	3.37:g.129305469C>T	ENSP00000317128:p.Ala528Thr	Somatic		Capture	Illumina HiSeq	Phase_I	130788159	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160077	0.21454	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.04551	3.6;3.6;3.6	4.36	-1.16	0.09678	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.977773	0.08407	N	0.950576	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49234	-0.8961	10	0.13108	T	0.6	.	3.9451	0.09344	0.2928:0.2422:0.0:0.465	.	528	Q9Y4D7	PLXD1_HUMAN	T	528;528;91	ENSP00000317128:A528T;ENSP00000376931:A528T;ENSP00000426241:A91T	ENSP00000317128:A528T	A	-	1	0	PLXND1	130788159	0.001000	0.12720	0.938000	0.37757	0.749000	0.42624	0.429000	0.21412	0.474000	0.27392	0.407000	0.27541	GCA		0.622	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
COL6A6	131873	broad.mit.edu	37	3	130282318	130282318	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:130282318C>T	ENST00000358511.6	+	2	502	c.471C>T	c.(469-471)gaC>gaT	p.D157D	COL6A6_ENST00000453409.2_Silent_p.D157D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	157	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D157D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCGGAAAGACGGAGTGAAAA	0.493																																					p.D157D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	3						.						57.0	57.0	57.0					3																	130282318		1923	4123	6046	131765008	SO:0001819	synonymous_variant	131873	exon2			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.471C>T	3.37:g.130282318C>T		Somatic		Capture	Illumina HiSeq	Phase_I	131765008	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
NUP210	23225	broad.mit.edu	37	3	13393384	13393384	+	Missense_Mutation	SNP	C	C	T	rs433032		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:13393384C>T	ENST00000254508.5	-	20	2912	c.2830G>A	c.(2830-2832)Gcc>Acc	p.A944T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	944			A -> P (in dbSNP:rs433032).		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.A944T(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTACCATGGCGACACCCCTG	0.527																																					p.A944T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2830A	3						.						110.0	86.0	94.0					3																	13393384		2203	4300	6503	13368384	SO:0001583	missense	23225	exon20			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2830G>A	3.37:g.13393384C>T	ENSP00000254508:p.Ala944Thr	Somatic		Capture	Illumina HiSeq	Phase_I	13368384	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604840	0.28623	.	.	ENSG00000132182	ENST00000254508	T	0.04970	3.52	5.11	4.24	0.50183	.	0.219306	0.38381	N	0.001713	T	0.09949	0.0244	M	0.68317	2.08	0.23872	N	0.996603	B;B	0.21821	0.061;0.036	B;B	0.13407	0.009;0.007	T	0.11421	-1.0588	10	0.56958	D	0.05	-24.2258	13.3585	0.60642	0.0:0.924:0.0:0.076	.	944;944	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	T	944	ENSP00000254508:A944T	ENSP00000254508:A944T	A	-	1	0	NUP210	13368384	1.000000	0.71417	0.246000	0.24233	0.053000	0.15095	5.157000	0.64911	1.153000	0.42468	0.655000	0.94253	GCC		0.527	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
ASTE1	28990	broad.mit.edu	37	3	130737451	130737451	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:130737451T>C	ENST00000264992.3	-	4	1853	c.1412A>G	c.(1411-1413)tAc>tGc	p.Y471C	ASTE1_ENST00000514044.1_Missense_Mutation_p.Y471C	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	471					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.Y471C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CTGCAACCAGTAGCAACTGAC	0.493																																					p.Y471C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1412G	3						.						211.0	192.0	198.0					3																	130737451		2203	4300	6503	132220141	SO:0001583	missense	28990	exon4			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1412A>G	3.37:g.130737451T>C	ENSP00000264992:p.Tyr471Cys	Somatic		Capture	Illumina HiSeq	Phase_I	132220141	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.81|13.81	2.347560|2.347560	0.41599|0.41599	.|.	.|.	ENSG00000034533|ENSG00000034533	ENST00000505290|ENST00000514044;ENST00000264992	.|.	.|.	.|.	5.72|5.72	4.45|4.45	0.53987|0.53987	.|.	.|0.113563	.|0.64402	.|D	.|0.000009	T|T	0.56352|0.56352	0.1979|0.1979	M|M	0.69823|0.69823	2.125|2.125	0.39841|0.39841	D|D	0.973104|0.973104	.|P;P	.|0.43431	.|0.807;0.807	.|B;B	.|0.39217	.|0.294;0.294	T|T	0.67515|0.67515	-0.5651|-0.5651	5|9	.|0.87932	.|D	.|0	-23.1426|-23.1426	12.9317|12.9317	0.58290|0.58290	0.1294:0.0:0.0:0.8706|0.1294:0.0:0.0:0.8706	.|.	.|471;471	.|D6RG30;Q2TB18	.|.;ASTE1_HUMAN	A|C	48|471	.|.	.|ENSP00000264992:Y471C	T|Y	-|-	1|2	0|0	ASTE1|ASTE1	132220141|132220141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.679000|0.679000	0.39708|0.39708	1.463000|1.463000	0.35277|0.35277	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.493	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
RYK	6259	broad.mit.edu	37	3	133878104	133878104	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:133878104C>A	ENST00000427044.2	-	15	1732	c.1122G>T	c.(1120-1122)caG>caT	p.Q374H	RYK_ENST00000296084.4_Missense_Mutation_p.Q564H			P34925	RYK_HUMAN	receptor-like tyrosine kinase	560	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.Q564H(1)		lung(1)|ovary(3)	4						AGTTGATTGGCTGGGCTATTC	0.453																																					p.A563S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1687T	3						.						67.0	65.0	66.0					3																	133878104		1916	4127	6043	135360794	SO:0001583	missense	6259	exon14			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.1122G>T	3.37:g.133878104C>A	ENSP00000399527:p.Gln374His	Somatic		Capture	Illumina HiSeq	Phase_I	135360794	NM_002958	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.38|19.38	3.816201|3.816201	0.70912|0.70912	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084;ENST00000427044|ENST00000460933	D;D|.	0.83419|.	-1.72;-1.72|.	5.5|5.5	2.74|2.74	0.32292|0.32292	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.182011|.	0.53938|.	N|.	0.000054|.	T|T	0.76673|0.76673	0.4020|0.4020	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	B;B|.	0.12013|.	0.005;0.004|.	B;B|.	0.14578|.	0.011;0.006|.	T|T	0.75869|0.75869	-0.3165|-0.3165	10|5	0.87932|.	D|.	0|.	-5.4264|-5.4264	8.971|8.971	0.35905|0.35905	0.0:0.7424:0.1226:0.135|0.0:0.7424:0.1226:0.135	.|.	560;563|.	P34925;P34925-2|.	RYK_HUMAN;.|.	H|I	564;374|543	ENSP00000296084:Q564H;ENSP00000399527:Q374H|.	ENSP00000296084:Q564H|.	Q|S	-|-	3|2	2|0	RYK|RYK	135360794|135360794	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	1.089000|1.089000	0.30890|0.30890	0.289000|0.289000	0.22422|0.22422	0.591000|0.591000	0.81541|0.81541	CAG|AGC		0.453	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861	
NME9	347736	broad.mit.edu	37	3	138037034	138037034	+	Missense_Mutation	SNP	C	C	T	rs200732318		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:138037034C>T	ENST00000333911.3	-	4	250	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	NME9_ENST00000383180.2_Missense_Mutation_p.E53K|NME9_ENST00000536478.1_Missense_Mutation_p.E53K|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Missense_Mutation_p.E53K|NME9_ENST00000341790.5_Intron			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	75	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.E53K(2)									CTGTACTTTTCGAGGACATCA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19100	0.0		0.001	False		,,,				2504	0.0				p.E53K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G157A	3						.						126.0	111.0	116.0					3																	138037034		2203	4300	6503	139519724	SO:0001583	missense	347736	exon6			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.223G>A	3.37:g.138037034C>T	ENSP00000335444:p.Glu75Lys	Somatic		Capture	Illumina HiSeq	Phase_I	139519724	NM_178130	Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37		2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	C|C	14.13|14.13	2.442601|2.442601	0.43326|0.43326	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000536478;ENST00000333911;ENST00000475751|ENST00000474690	T;T;T;T;T|.	0.14516|.	4.02;4.02;4.02;2.5;2.5|.	4.97|4.97	2.17|2.17	0.27698|0.27698	Thioredoxin domain (1);Thioredoxin-like fold (2);|.	0.571376|.	0.18525|.	N|.	0.138647|.	T|T	0.19604|0.19604	0.0471|0.0471	N|N	0.11892|0.11892	0.195|0.195	0.09310|0.09310	N|N	0.999996|0.999996	B;B|.	0.32800|.	0.377;0.385|.	B;B|.	0.28638|.	0.06;0.092|.	T|T	0.26985|0.26985	-1.0087|-1.0087	10|5	0.52906|.	T|.	0.07|.	-2.7624|-2.7624	7.4647|7.4647	0.27314|0.27314	0.0:0.6435:0.0:0.3565|0.0:0.6435:0.0:0.3565	.|.	75;53|.	Q86XW9;Q86XW9-2|.	TXND6_HUMAN;.|.	K|Q	53;53;53;75;75|44	ENSP00000372667:E53K;ENSP00000321929:E53K;ENSP00000440143:E53K;ENSP00000335444:E75K;ENSP00000419147:E75K|.	ENSP00000321929:E53K|.	E|R	-|-	1|2	0|0	TXNDC6|TXNDC6	139519724|139519724	0.970000|0.970000	0.33590|0.33590	0.494000|0.494000	0.27515|0.27515	0.803000|0.803000	0.45373|0.45373	2.295000|2.295000	0.43576|0.43576	0.143000|0.143000	0.18926|0.18926	0.491000|0.491000	0.48974|0.48974	GAA|CGA		0.458	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130	
PLCH1	23007	broad.mit.edu	37	3	155212184	155212184	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:155212184G>A	ENST00000340059.7	-	15	1980	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	PLCH1_ENST00000460012.1_Missense_Mutation_p.R643C|PLCH1_ENST00000414191.1_Missense_Mutation_p.R643C|PLCH1_ENST00000447496.2_Missense_Mutation_p.R661C|PLCH1_ENST00000334686.6_Missense_Mutation_p.R643C|PLCH1_ENST00000494598.1_Missense_Mutation_p.R661C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	661	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R643C(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAATCAATGCGGTAGGCAGAG	0.453																																					p.R661C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1981T	3						.						169.0	154.0	159.0					3																	155212184		2203	4300	6503	156694878	SO:0001583	missense	23007	exon15			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1981C>T	3.37:g.155212184G>A	ENSP00000345988:p.Arg661Cys	Somatic		Capture	Illumina HiSeq	Phase_I	156694878	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016382	0.75161	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.39	4.43	0.53597	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95999	0.8992	10	0.87932	D	0	.	14.9603	0.71151	0.0:0.0:0.7641:0.2358	.	643;661;661	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	C	661;643;661;661;643;643	ENSP00000419100:R661C;ENSP00000417502:R643C;ENSP00000402759:R661C;ENSP00000345988:R661C;ENSP00000335469:R643C;ENSP00000412977:R643C	ENSP00000335469:R643C	R	-	1	0	PLCH1	156694878	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.578000	0.53892	2.537000	0.85549	0.655000	0.94253	CGC		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
GHSR	2693	broad.mit.edu	37	3	172165617	172165617	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:172165617T>A	ENST00000241256.2	-	1	629	c.587A>T	c.(586-588)aAc>aTc	p.N196I	GHSR_ENST00000427970.1_Missense_Mutation_p.N196I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	196					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.N196I(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCGGCACTCGTTGGTGTCCCA	0.622																																					p.N196I	Esophageal Squamous(93;641 1401 20883 29581 34638)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A587T	3						.						46.0	38.0	41.0					3																	172165617		2203	4299	6502	173648311	SO:0001583	missense	2693	exon1			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.587A>T	3.37:g.172165617T>A	ENSP00000241256:p.Asn196Ile	Somatic		Capture	Illumina HiSeq	Phase_I	173648311	NM_198407	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622294	0.46840	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.71817	-0.6;-0.6	5.58	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.360333	0.34676	N	0.003765	T	0.68705	0.3030	L	0.27053	0.805	0.48975	D	0.99973	P;P	0.49696	0.927;0.544	P;B	0.59056	0.851;0.315	T	0.63726	-0.6572	10	0.34782	T	0.22	-14.9124	9.7834	0.40662	0.0:0.1398:0.0:0.8602	.	196;196	Q92847-2;Q92847	.;GHSR_HUMAN	I	196	ENSP00000241256:N196I;ENSP00000395344:N196I	ENSP00000241256:N196I	N	-	2	0	GHSR	173648311	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.570000	0.36439	0.415000	0.25817	0.374000	0.22700	AAC		0.622	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
TTC14	151613	broad.mit.edu	37	3	180322348	180322348	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:180322348T>C	ENST00000296015.4	+	5	786	c.654T>C	c.(652-654)ggT>ggC	p.G218G	TTC14_ENST00000382584.4_Silent_p.G218G|TTC14_ENST00000412756.2_Silent_p.G218G|RP11-496B10.3_ENST00000472596.1_lincRNA	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	218							RNA binding (GO:0003723)	p.G218G(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACCTATCTGGTATTAAATTAG	0.338																																					p.G218G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T654C	3						.						65.0	64.0	64.0					3																	180322348		2203	4296	6499	181805042	SO:0001819	synonymous_variant	151613	exon5			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.654T>C	3.37:g.180322348T>C		Somatic		Capture	Illumina HiSeq	Phase_I	181805042	NM_133462	G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	CCDS3237.1																																																																																				0.338	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
DNAJB11	51726	broad.mit.edu	37	3	186299202	186299202	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:186299202C>T	ENST00000439351.1	+	6	1428	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R167W			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	167					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R167W(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TCCTGGCAAACGGAAGTGCAA	0.522																																					p.R167W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C499T	3						.						98.0	92.0	94.0					3																	186299202		2203	4300	6503	187781896	SO:0001583	missense	51726	exon5			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.499C>T	3.37:g.186299202C>T	ENSP00000414398:p.Arg167Trp	Somatic		Capture	Illumina HiSeq	Phase_I	187781896	NM_016306	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339300	0.81911	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.69435	-0.4;-0.4	5.85	5.85	0.93711	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	H	0.96777	3.88	0.80722	D	1	D	0.69078	0.997	P	0.54544	0.755	D	0.90136	0.4210	10	0.87932	D	0	-14.868	17.6588	0.88185	0.0:1.0:0.0:0.0	.	167	Q9UBS4	DJB11_HUMAN	W	167	ENSP00000414398:R167W;ENSP00000265028:R167W	ENSP00000265028:R167W	R	+	1	2	DNAJB11	187781896	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.538000	0.45710	2.753000	0.94483	0.655000	0.94253	CGG		0.522	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1		
ATP13A5	344905	broad.mit.edu	37	3	193039609	193039609	+	Silent	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:193039609G>T	ENST00000342358.4	-	16	1893	c.1776C>A	c.(1774-1776)atC>atA	p.I592I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	592						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.I592I(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAAGGTGATGATGGCTTCCA	0.478																																					p.I592I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1776A	3						.						85.0	82.0	83.0					3																	193039609		2203	4300	6503	194522303	SO:0001819	synonymous_variant	344905	exon16			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1776C>A	3.37:g.193039609G>T		Somatic		Capture	Illumina HiSeq	Phase_I	194522303	NM_198505	Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	CCDS33914.1																																																																																				0.478	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
LRRC15	131578	broad.mit.edu	37	3	194080099	194080099	+	Silent	SNP	G	G	A	rs200049182	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:194080099G>A	ENST00000347624.3	-	2	1759	c.1674C>T	c.(1672-1674)tgC>tgT	p.C558C	LRRC15_ENST00000428839.1_Silent_p.C564C|LRRC15_ENST00000439944.2_Silent_p.C564C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	558					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.C558C(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AACAGCCGACGCAGGCAGCCA	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19642	0.001		0.0	False		,,,				2504	0.0				p.C558C												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1674T	3						.						62.0	62.0	62.0					3																	194080099		2203	4300	6503	195561394	SO:0001819	synonymous_variant	131578	exon2			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1674C>T	3.37:g.194080099G>A		Somatic		Capture	Illumina HiSeq	Phase_I	195561394	NM_130830	Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	CCDS3306.1																																																																																				0.612	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
MUC4	4585	broad.mit.edu	37	3	195487765	195487765	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:195487765G>A	ENST00000346145.4	-	15	2169	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	MUC4_ENST00000349607.4_Silent_p.N659N|MUC4_ENST00000475231.1_Silent_p.N4894N|MUC4_ENST00000463781.3_Silent_p.N4946N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1703					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.N710N(3)|p.N4946N(3)|p.N4818N(3)		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)		TGAGGGTGGCGTTCGCCTGCT	0.582																																					p.N659N												.	.	9	Substitution - coding silent(9)	lung(3)|large_intestine(3)|prostate(3)	c.C1977T	3						.						95.0	86.0	89.0					3																	195487765		2203	4300	6503	196973436	SO:0001819	synonymous_variant	4585	exon14			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	ENST00000346145.4:c.2130C>T	3.37:g.195487765G>A		Somatic		Capture	Illumina HiSeq	Phase_I	196973436	NM_138297	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	CCDS3310.1																																																																																				0.582	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	
TNK2	10188	broad.mit.edu	37	3	195615360	195615360	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:195615360G>A	ENST00000333602.6	-	2	717	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000392400.1_Missense_Mutation_p.R34C|TNK2_ENST00000381916.2_Missense_Mutation_p.R97C|TNK2_ENST00000428187.1_Missense_Mutation_p.R66C|TNK2_ENST00000316664.3_Missense_Mutation_p.R34C	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	34	SAM-like domain.		R -> L (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.R97C(1)|p.R34C(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGGGACAGGCGGGTGACGTTG	0.602																																					p.R34C												TNK2,lung,NS,Substitution - Missense,+1 	.	2	Substitution - Missense(2)	large_intestine(2)	c.C100T	3						.						128.0	111.0	117.0					3																	195615360		2203	4300	6503	197099757	SO:0001583	missense	10188	exon2			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.100C>T	3.37:g.195615360G>A	ENSP00000329425:p.Arg34Cys	Somatic		Capture	Illumina HiSeq	Phase_I	197099757	NM_005781	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829540	0.71258	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664;ENST00000433111;ENST00000427576	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.65852	0.2731	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;0.999;1.0	T	0.72171	-0.4371	10	0.87932	D	0	.	17.7455	0.88419	0.0:0.0:1.0:0.0	.	34;34;97;66	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	C	34;97;66;34;34;34;98	ENSP00000329425:R34C;ENSP00000371341:R97C;ENSP00000392546:R66C;ENSP00000376201:R34C;ENSP00000323216:R34C;ENSP00000395154:R34C;ENSP00000390088:R98C	ENSP00000323216:R34C	R	-	1	0	TNK2	197099757	1.000000	0.71417	0.992000	0.48379	0.137000	0.21094	7.488000	0.81441	2.439000	0.82584	0.467000	0.42956	CGC		0.602	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
CNTN4	152330	broad.mit.edu	37	3	2861264	2861264	+	Splice_Site	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:2861264A>G	ENST00000397461.1	+	6	837	c.453A>G	c.(451-453)ggA>ggG	p.G151G	CNTN4_ENST00000418658.1_Splice_Site_p.G151G|CNTN4_ENST00000427331.1_Splice_Site_p.G151G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	151	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.G151G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCCATTCTGGAGGTACATATA	0.453																																					p.G151G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A453G	3						.						85.0	84.0	85.0					3																	2861264		1974	4163	6137	2836264	SO:0001630	splice_region_variant	152330	exon6			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.454+1A>G	3.37:g.2861264A>G		Somatic		Capture	Illumina HiSeq	Phase_I	2836264	NM_175607	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																				0.453	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		Silent
SETD5	55209	broad.mit.edu	37	3	9482197	9482197	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:9482197C>T	ENST00000406341.1	+	7	815	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SETD5_ENST00000402198.1_Missense_Mutation_p.R209W|SETD5_ENST00000402466.1_Missense_Mutation_p.R111W|SETD5_ENST00000302463.6_Missense_Mutation_p.R111W|SETD5_ENST00000407969.1_Missense_Mutation_p.R228W			Q9C0A6	SETD5_HUMAN	SET domain containing 5	209								p.R209W(1)|p.R111W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTGGGAAAATCGGATAAGACT	0.413																																					p.R209W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C625T	3						.						71.0	67.0	68.0					3																	9482197		1855	4084	5939	9457197	SO:0001583	missense	55209	exon8			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.625C>T	3.37:g.9482197C>T	ENSP00000383939:p.Arg209Trp	Somatic		Capture	Illumina HiSeq	Phase_I	9457197	NM_001080517	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959448	0.92726	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.92752	-2.79;-3.1;-2.79;-2.8;0.64;-3.1	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	D	0.94866	0.8341	L	0.47716	1.5	0.58432	D	0.999999	D;D;P	0.89917	1.0;1.0;0.94	D;D;P	0.85130	0.997;0.993;0.489	D	0.95139	0.8262	10	0.87932	D	0	-1.0764	19.4739	0.94976	0.0:1.0:0.0:0.0	.	111;209;228	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	W	209;111;209;228;98;111	ENSP00000385852:R209W;ENSP00000384429:R111W;ENSP00000383939:R209W;ENSP00000384114:R228W;ENSP00000408837:R98W;ENSP00000302028:R111W	ENSP00000302028:R111W	R	+	1	2	SETD5	9457197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.223000	0.42936	2.697000	0.92050	0.655000	0.94253	CGG		0.413	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
SLC4A7	9497	broad.mit.edu	37	3	27431531	27431531	+	Missense_Mutation	SNP	C	C	T	rs560270432		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:27431531C>T	ENST00000295736.5	-	22	3294	c.3224G>A	c.(3223-3225)cGt>cAt	p.R1075H	SLC4A7_ENST00000388777.4_Missense_Mutation_p.R625H|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R956H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R951H|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1071H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1067H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R956H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R960H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1084H|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1071H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1075					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R1075H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CGGCACATAACGGAGGTATAT	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13487	0.0		0.0	False		,,,				2504	0.0				p.R1075H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3224A	3						.						142.0	152.0	148.0					3																	27431531		2203	4300	6503	27406535	SO:0001583	missense	9497	exon22			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3224G>A	3.37:g.27431531C>T	ENSP00000295736:p.Arg1075His	Somatic		Capture	Illumina HiSeq	Phase_I	27406535	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179548	0.94846	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.31	5.31	0.75309	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93602	0.7957	H	0.96748	3.875	0.80722	D	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95592	0.8655	10	0.87932	D	0	.	18.9786	0.92747	0.0:1.0:0.0:0.0	.	1071;956;1067;1071;1084;625;951;1075;956	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	H	626;1075;951;1084;1071;956;1067;956;1071;960;625;971	ENSP00000411031:R626H;ENSP00000295736:R1075H;ENSP00000416368:R951H;ENSP00000390394:R1084H;ENSP00000414797:R1071H;ENSP00000394252:R956H;ENSP00000406605:R1067H;ENSP00000407382:R956H;ENSP00000406804:R1071H;ENSP00000395336:R960H;ENSP00000373429:R625H;ENSP00000388703:R971H	ENSP00000295736:R1075H	R	-	2	0	SLC4A7	27406535	1.000000	0.71417	0.845000	0.33349	0.805000	0.45488	7.818000	0.86416	2.479000	0.83701	0.650000	0.86243	CGT		0.358	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
EOMES	8320	broad.mit.edu	37	3	27758754	27758754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:27758754delG	ENST00000295743.4	-	6	2071	c.1868delC	c.(1867-1869)cctfs	p.P623fs	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Frame_Shift_Del_p.P347fs|EOMES_ENST00000449599.1_Frame_Shift_Del_p.P642fs			O95936	EOMES_HUMAN	eomesodermin	623	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P623fs*6(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTGATGGAAGGGGGTGTCTC	0.473																																					p.P623fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1868delC	3						.						118.0	123.0	121.0					3																	27758754		2203	4300	6503	27733758	SO:0001589	frameshift_variant	8320	exon6			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1868delC	3.37:g.27758754delG	ENSP00000295743:p.Pro623fs	Somatic		Capture	Illumina HiSeq	Phase_I	27733758	NM_005442	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Frame_Shift_Del	DEL	ENST00000295743.4	37	CCDS2646.1																																																																																				0.473	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	
CMTM7	112616	broad.mit.edu	37	3	32495740	32495740	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:32495740C>T	ENST00000334983.5	+	5	758	c.522C>T	c.(520-522)gcC>gcT	p.A174A	CMTM7_ENST00000349718.4_Silent_p.A141A	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	174					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A174A(1)		endometrium(1)|large_intestine(1)|lung(2)	4						AAGATGCAGCCGTCTGATGAG	0.587																																					p.A174A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	3						.						100.0	84.0	89.0					3																	32495740		2203	4300	6503	32470744	SO:0001819	synonymous_variant	112616	exon5			AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"""chemokine-like factor super family 7"", ""chemokine-like factor superfamily 7"""	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.522C>T	3.37:g.32495740C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32470744	NM_138410	Q5VLK1	Silent	SNP	ENST00000334983.5	37	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	C	3.976	-0.007373	0.07773	.	.	ENSG00000153551	ENST00000465248	.	.	.	3.55	-3.42	0.04825	.	.	.	.	.	T	0.61640	0.2363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64453	-0.6404	5	0.87932	D	0	.	9.4586	0.38769	0.0:0.3544:0.0:0.6456	.	.	.	.	L	70	.	ENSP00000440333:P70L	P	+	2	0	CMTM7	32470744	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.764000	0.00372	-0.839000	0.04212	-1.127000	0.01993	CCG		0.587	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1		
ACVR2B	93	broad.mit.edu	37	3	38521171	38521171	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:38521171C>A	ENST00000352511.4	+	7	1285	c.813C>A	c.(811-813)ggC>ggA	p.G271G		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G271G(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TCTCTCAGGGCTCCCTCACGG	0.547											OREG0015478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G271G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813A	3						.						144.0	120.0	128.0					3																	38521171		2203	4300	6503	38496175	SO:0001819	synonymous_variant	93	exon7			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.813C>A	3.37:g.38521171C>A		Somatic	878	Capture	Illumina HiSeq	Phase_I	38496175	NM_001106	Q4VAV0	Silent	SNP	ENST00000352511.4	37	CCDS2679.1																																																																																				0.547	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	
SCN5A	6331	broad.mit.edu	37	3	38591892	38591892	+	Missense_Mutation	SNP	G	G	A	rs371308670		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:38591892G>A	ENST00000333535.4	-	28	6120	c.5971C>T	c.(5971-5973)Cgg>Tgg	p.R1991W	SCN5A_ENST00000450102.2_Missense_Mutation_p.R1937W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1990W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1958W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1937W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1991W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1990W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1973W|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1937W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1973W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1991					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R1991W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGACCCCCGCACCTGGAGG	0.632																																					p.R1973W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5917T	3						.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,3994		0,0,1997	60.0	63.0	62.0		5968,5971,5917,5872,5809,5971	2.1	0.4	3		62	1,8349		0,1,4174	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	101,101,101,101,101,101	0,1,6171	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1990/2016,1991/2017,1973/1999,1958/1984,1937/1963,1991/2017	38591892	1,12343	1997	4175	6172	38566896	SO:0001583	missense	6331	exon27			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5971C>T	3.37:g.38591892G>A	ENSP00000328968:p.Arg1991Trp	Somatic		Capture	Illumina HiSeq	Phase_I	38566896	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	8.405	0.842800	0.16963	0.0	1.2E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96136	-3.84;-3.86;-3.86;-3.88;-3.86;-3.84;-3.86;-3.92;-3.88;-3.88	4.95	2.08	0.27032	.	0.633821	0.15271	N	0.271204	D	0.93174	0.7826	N	0.08118	0	0.09310	N	1	D;D;D;P;D;D	0.76494	0.999;0.999;0.999;0.862;0.971;0.999	P;P;D;P;P;D	0.71184	0.776;0.857;0.948;0.53;0.759;0.972	D	0.86048	0.1524	10	0.72032	D	0.01	.	8.6257	0.33888	0.0722:0.0:0.3911:0.5367	.	1937;1958;1973;1991;1990;1991	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	W	1973;1990;1991;1937;1990;1973;1991;1958;1937;1937	ENSP00000398962:R1973W;ENSP00000398266:R1990W;ENSP00000410257:R1991W;ENSP00000388797:R1937W;ENSP00000397915:R1990W;ENSP00000416634:R1973W;ENSP00000328968:R1991W;ENSP00000399524:R1958W;ENSP00000403355:R1937W;ENSP00000413996:R1937W	ENSP00000328968:R1991W	R	-	1	2	SCN5A	38566896	0.068000	0.21057	0.388000	0.26195	0.148000	0.21650	0.368000	0.20399	0.243000	0.21327	0.655000	0.94253	CGG		0.632	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
POMGNT2	84892	broad.mit.edu	37	3	43122705	43122705	+	Silent	SNP	C	C	T	rs138728885		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:43122705C>T	ENST00000344697.2	-	2	564	c.219G>A	c.(217-219)acG>acA	p.T73T	POMGNT2_ENST00000441964.1_Silent_p.T73T	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	73					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.T73T(1)									GGTCTGTGTGCGTGCGGCCCG	0.607																																					p.T73T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G219A	3						.	C		0,4406		0,0,2203	81.0	71.0	75.0		219	-0.5	1.0	3	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C3orf39	NM_032806.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		73/581	43122705	1,13005	2203	4300	6503	43097709	SO:0001819	synonymous_variant	84892	exon2			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.219G>A	3.37:g.43122705C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43097709	NM_032806	B3KWC3|Q96SY3	Silent	SNP	ENST00000344697.2	37	CCDS2709.1																																																																																				0.607	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806	
ZNF35	7584	broad.mit.edu	37	3	44692631	44692631	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:44692631A>G	ENST00000396056.2	+	2	307	c.72A>G	c.(70-72)gaA>gaG	p.E24E	ZNF35_ENST00000399560.2_Silent_p.E24E|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000453164.1_Silent_p.E24E|ZNF35_ENST00000296092.3_Silent_p.E24E	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	24	Globular domain.|Poly-Glu.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E24E(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AGGAGGAGGAAGAAGAAGAAA	0.537																																					p.E24E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A72G	3						.						59.0	59.0	59.0					3																	44692631		2203	4300	6503	44667635	SO:0001819	synonymous_variant	7584	exon2			X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.72A>G	3.37:g.44692631A>G		Somatic		Capture	Illumina HiSeq	Phase_I	44667635	NM_003420	B2RBU6|Q53Y54|Q96D01	Silent	SNP	ENST00000396056.2	37	CCDS2718.2																																																																																				0.537	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420	
ZNF502	91392	broad.mit.edu	37	3	44761796	44761796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:44761796G>T	ENST00000296091.4	+	3	299	c.43G>T	c.(43-45)Gag>Tag	p.E15*	ZNF502_ENST00000436624.2_Nonsense_Mutation_p.E15*|ZNF502_ENST00000449836.1_Nonsense_Mutation_p.E15*	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	15					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.E15*(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CATTAGAAGAGAGACTTGTCC	0.463																																					p.E15X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G43T	3						.						91.0	88.0	89.0					3																	44761796		2203	4300	6503	44736800	SO:0001587	stop_gained	91392	exon3			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.43G>T	3.37:g.44761796G>T	ENSP00000296091:p.Glu15*	Somatic		Capture	Illumina HiSeq	Phase_I	44736800	NM_033210		Nonsense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925073	0.52759	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	.	.	.	3.86	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-3.1981	7.1381	0.25539	0.1239:0.0:0.8761:0.0	.	.	.	.	X	15	.	ENSP00000296091:E15X	E	+	1	0	ZNF502	44736800	0.001000	0.12720	0.035000	0.18076	0.594000	0.36715	0.582000	0.23834	0.978000	0.38470	0.563000	0.77884	GAG		0.463	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210	
DHX30	22907	broad.mit.edu	37	3	47888067	47888067	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:47888067G>T	ENST00000445061.1	+	11	1912	c.1505G>T	c.(1504-1506)cGg>cTg	p.R502L	DHX30_ENST00000446256.2_Missense_Mutation_p.R463L|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.R474L|DHX30_ENST00000457607.1_Missense_Mutation_p.R530L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	502	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.R502L(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGGCACAGCGGGTCAGCCAC	0.647																																					p.R502L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1505T	3						.						53.0	55.0	55.0					3																	47888067		2203	4299	6502	47863071	SO:0001583	missense	22907	exon11			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1505G>T	3.37:g.47888067G>T	ENSP00000405620:p.Arg502Leu	Somatic		Capture	Illumina HiSeq	Phase_I	47863071	NM_138615	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985493	0.93044	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.94	4.94	0.65067	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.83013	-0.0171	10	0.87932	D	0	.	17.1598	0.86801	0.0:0.0:1.0:0.0	.	502;463	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	L	463;502;474;530	ENSP00000392601:R463L;ENSP00000405620:R502L;ENSP00000343442:R474L;ENSP00000394682:R530L	ENSP00000343442:R474L	R	+	2	0	DHX30	47863071	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.819000	0.86621	2.289000	0.77006	0.561000	0.74099	CGG		0.647	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
UQCRC1	7384	broad.mit.edu	37	3	48636569	48636569	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:48636569G>A	ENST00000203407.5	-	13	1851	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	479					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.R479C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTAGAAGCGCAGCCAGAAC	0.632																																					p.R479C	NSCLC(81;1112 1427 27031 32409 45529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1435T	3						.						91.0	92.0	92.0					3																	48636569		2203	4300	6503	48611573	SO:0001583	missense	7384	exon13			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1435C>T	3.37:g.48636569G>A	ENSP00000203407:p.Arg479Cys	Somatic		Capture	Illumina HiSeq	Phase_I	48611573	NM_003365	B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.130645	0.77549	.	.	ENSG00000010256	ENST00000203407	T	0.44881	0.91	5.23	4.32	0.51571	Peptidase M16, core (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.83628	0.0143	10	0.87932	D	0	-20.9106	15.1361	0.72566	0.0:0.0:0.858:0.142	.	364;479	B4DUL5;P31930	.;QCR1_HUMAN	C	479	ENSP00000203407:R479C	ENSP00000203407:R479C	R	-	1	0	UQCRC1	48611573	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.181000	0.58303	2.414000	0.81942	0.457000	0.33378	CGC		0.632	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365	
CDHR4	389118	broad.mit.edu	37	3	49836429	49836429	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:49836429G>T	ENST00000412678.2	-	3	409	c.401C>A	c.(400-402)cCa>cAa	p.P134Q	CDHR4_ENST00000487256.1_Missense_Mutation_p.P134Q|CDHR4_ENST00000343366.4_Missense_Mutation_p.P134Q	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	134					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P134Q(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GGCCTCACCTGGGCTGGCAAA	0.607																																					p.P134Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C401A	3						.						24.0	27.0	26.0					3																	49836429		2048	4204	6252	49811433	SO:0001583	missense	389118	exon3				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.401C>A	3.37:g.49836429G>T	ENSP00000391409:p.Pro134Gln	Somatic		Capture	Illumina HiSeq	Phase_I	49811433	NM_001007540	Q6UXT0	Missense_Mutation	SNP	ENST00000412678.2	37	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717715	0.68844	.	.	ENSG00000187492	ENST00000412678;ENST00000343366;ENST00000487256	T;T;T	0.58506	0.33;0.67;0.77	5.44	4.55	0.56014	.	0.243878	0.28971	N	0.013547	T	0.64929	0.2643	L	0.32530	0.975	0.35599	D	0.807714	D;B;D	0.89917	1.0;0.099;1.0	D;B;D	0.91635	0.999;0.027;0.999	T	0.72007	-0.4420	10	0.46703	T	0.11	-3.0045	12.4856	0.55871	0.0:0.0:0.8324:0.1676	.	134;134;134	E9PFE8;A6H8M9;A6H8M9-2	.;CDHR4_HUMAN;.	Q	134	ENSP00000391409:P134Q;ENSP00000341302:P134Q;ENSP00000420677:P134Q	ENSP00000341302:P134Q	P	-	2	0	CDHR4	49811433	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.513000	0.45494	1.251000	0.43983	0.655000	0.94253	CCA		0.607	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540	
SLC38A3	10991	broad.mit.edu	37	3	50254901	50254901	+	RNA	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:50254901T>C	ENST00000420502.1	+	0	839									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TTCTTCCTAATTGCAGTGAGT	0.607																																					p.I229T												.	.	0			c.T686C	3						.						53.0	50.0	51.0					3																	50254901		1948	4160	6108	50229905			10991	exon9			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50254901T>C		Somatic		Capture	Illumina HiSeq	Phase_I	50229905	NM_006841		Missense_Mutation	SNP	ENST00000420502.1	37																																																																																					0.607	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841	
ALAS1	211	broad.mit.edu	37	3	52236739	52236739	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:52236739C>T	ENST00000394965.2	+	4	776	c.416C>T	c.(415-417)gCc>gTc	p.A139V	ALAS1_ENST00000469224.1_Missense_Mutation_p.A139V|ALAS1_ENST00000310271.2_Missense_Mutation_p.A139V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A139V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	139					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.A139V(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	GAAATGAATGCCGTGAGGAAA	0.463																																					p.A139V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416T	3						.						57.0	47.0	50.0					3																	52236739		2203	4300	6503	52211779	SO:0001583	missense	211	exon4			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.416C>T	3.37:g.52236739C>T	ENSP00000378416:p.Ala139Val	Somatic		Capture	Illumina HiSeq	Phase_I	52211779	NM_000688		Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516786	0.44763	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	5.23	5.23	0.72850	5-aminolevulinate synthase presequence (1);	0.238237	0.43747	D	0.000531	D	0.94079	0.8102	N	0.22421	0.69	0.35461	D	0.796483	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.006	D	0.93127	0.6530	10	0.28530	T	0.3	-20.5252	14.1189	0.65175	0.0:0.9254:0.0:0.0746	.	156;139	B4DVA0;P13196	.;HEM1_HUMAN	V	139	ENSP00000417719:A139V;ENSP00000378416:A139V;ENSP00000309259:A139V;ENSP00000418779:A139V	ENSP00000309259:A139V	A	+	2	0	ALAS1	52211779	0.826000	0.29277	0.960000	0.40013	0.956000	0.61745	2.825000	0.48096	2.445000	0.82738	0.655000	0.94253	GCC		0.463	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1		
NISCH	11188	broad.mit.edu	37	3	52525420	52525420	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:52525420G>A	ENST00000479054.1	+	21	3867	c.3795G>A	c.(3793-3795)acG>acA	p.T1265T	NISCH_ENST00000345716.4_Silent_p.T1265T			Q9Y2I1	NISCH_HUMAN	nischarin	1265					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)	p.T1265T(1)		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)	GCTACCTGACGCACTGCTTCC	0.642																																					p.T1265T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3795A	3						.						90.0	67.0	75.0					3																	52525420		2203	4300	6503	52500460	SO:0001819	synonymous_variant	11188	exon20			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.3795G>A	3.37:g.52525420G>A		Somatic		Capture	Illumina HiSeq	Phase_I	52500460	NM_007184	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	CCDS33767.1																																																																																				0.642	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	
ACTR8	93973	broad.mit.edu	37	3	53912406	53912406	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:53912406C>T	ENST00000335754.3	-	3	483	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_Missense_Mutation_p.R17H	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	128					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R128H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CACAGGAATGCGTCTTGTACC	0.368																																					p.R128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	3						.						373.0	336.0	348.0					3																	53912406		2203	4300	6503	53887446	SO:0001583	missense	93973	exon3				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.383G>A	3.37:g.53912406C>T	ENSP00000336842:p.Arg128His	Somatic		Capture	Illumina HiSeq	Phase_I	53887446	NM_022899	B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281154	0.95489	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	D;D	0.97114	-4.11;-4.25	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98066	1.0396	10	0.38643	T	0.18	-27.6672	18.3161	0.90221	0.0:1.0:0.0:0.0	.	128	Q9H981	ARP8_HUMAN	H	128;17;17	ENSP00000336842:R128H;ENSP00000419429:R17H	ENSP00000336842:R128H	R	-	2	0	ACTR8	53887446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.755000	0.94549	0.650000	0.86243	CGC		0.368	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899	
PSMD6	9861	broad.mit.edu	37	3	64008051	64008051	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:64008051G>A	ENST00000295901.4	-	2	434	c.294C>T	c.(292-294)agC>agT	p.S98S	RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000394431.2_Silent_p.S60S|PSMD6_ENST00000492933.1_Silent_p.S151S|PSMD6_ENST00000482510.1_Silent_p.S59S	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	98					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.S98S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CGCGAATTTCGCTCTCTCCTA	0.453																																					p.S98S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294T	3						.						179.0	171.0	174.0					3																	64008051		2203	4300	6503	63983091	SO:0001819	synonymous_variant	9861	exon2			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.294C>T	3.37:g.64008051G>A		Somatic		Capture	Illumina HiSeq	Phase_I	63983091	NM_014814	A8K2E0|E9PHI9|Q6UV22	Silent	SNP	ENST00000295901.4	37	CCDS2901.1																																																																																				0.453	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	
EOGT	285203	broad.mit.edu	37	3	69057600	69057600	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:69057600C>T	ENST00000383701.3	-	5	1032	c.290G>A	c.(289-291)tGc>tAc	p.C97Y	EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_5'UTR|EOGT_ENST00000295571.5_Missense_Mutation_p.C97Y	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	97					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)	p.C97Y(1)									GACATAGCTGCAAACTGGGTA	0.408																																					p.C97Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	3						.						179.0	172.0	174.0					3																	69057600		2203	4300	6503	69140290	SO:0001583	missense	285203	exon5			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.290G>A	3.37:g.69057600C>T	ENSP00000373206:p.Cys97Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	69140290	NM_173654	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37		.	.	.	.	.	.	.	.	.	.	C	18.02	3.530661	0.64860	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000424374;ENST00000456376	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.85616	0.1261	9	0.87932	D	0	.	17.8336	0.88689	0.0:1.0:0.0:0.0	.	97;97	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	Y	97	.	ENSP00000295571:C97Y	C	-	2	0	C3orf64	69140290	1.000000	0.71417	0.985000	0.45067	0.591000	0.36615	6.465000	0.73538	2.706000	0.92434	0.655000	0.94253	TGC		0.408	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654	
MECOM	2122	broad.mit.edu	37	3	168833560	168833560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:168833560delA	ENST00000464456.1	-	7	2736	c.1536delT	c.(1534-1536)tttfs	p.F512fs	MECOM_ENST00000433243.2_Frame_Shift_Del_p.F513fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.F513fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.F512fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.F512fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.F512fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.F700fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.F577fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P513fs*15(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGAATGCTGGAAAAAATGGGA	0.423																																					p.F577fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1731delT	3						.						308.0	270.0	283.0					3																	168833560		2203	4300	6503	170316254	SO:0001589	frameshift_variant	2122	exon8			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1536delT	3.37:g.168833560delA	ENSP00000419770:p.Phe512fs	Somatic		Capture	Illumina HiSeq	Phase_I	170316254	NM_001105077	Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000464456.1	37	CCDS54669.1																																																																																				0.423	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
TFRC	7037	broad.mit.edu	37	3	195779004	195779004	+	Nonsense_Mutation	SNP	G	G	A	rs373764388		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr3:195779004G>A	ENST00000360110.4	-	19	2261	c.2092C>T	c.(2092-2094)Cga>Tga	p.R698*	TFRC_ENST00000535031.1_Nonsense_Mutation_p.R416*|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Nonsense_Mutation_p.R698*|TFRC_ENST00000420415.1_Nonsense_Mutation_p.R617*	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	698	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.R698*(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AAGACATGTCGGAAAGGAGAC	0.458			T	BCL6	NHL																																p.R698X			Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2092T	3						.	G	stop/ARG,stop/ARG	0,4406		0,0,2203	59.0	62.0	61.0		2092,2092	5.9	1.0	3		61	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	TFRC	NM_001128148.1,NM_003234.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	698/761,698/761	195779004	1,13005	2203	4300	6503	197263401	SO:0001587	stop_gained	7037	exon19			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2092C>T	3.37:g.195779004G>A	ENSP00000353224:p.Arg698*	Somatic		Capture	Illumina HiSeq	Phase_I	197263401	NM_003234	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Nonsense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657026	0.96724	0.0	1.16E-4	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8705	19.2865	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	698;617;698;416	.	ENSP00000353224:R698X	R	-	1	2	TFRC	197263401	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	7.192000	0.77771	2.802000	0.96397	0.655000	0.94253	CGA		0.458	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1		
GSTCD	79807	broad.mit.edu	37	4	106766701	106766702	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:106766701_106766702insA	ENST00000515279.1	+	12	2089_2090	c.1869_1870insA	c.(1870-1872)aaafs	p.K624fs	GSTCD_ENST00000360505.5_Frame_Shift_Ins_p.K624fs|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394730.3_Frame_Shift_Ins_p.K537fs|GSTCD_ENST00000394728.3_Frame_Shift_Ins_p.K624fs			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	624						extracellular vesicular exosome (GO:0070062)		p.N538fs*2(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GCTGCTCTCCCAAAAATAACAT	0.46																																					p.P623fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1869_1870insA	4						.																																			106986151	SO:0001589	frameshift_variant	79807	exon12			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1874dupA	4.37:g.106766706_106766706dupA	ENSP00000422354:p.Lys624fs	Somatic		Capture	Illumina HiSeq	Phase_I	106986150	NM_001031720	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Frame_Shift_Ins	INS	ENST00000515279.1	37	CCDS43257.1																																																																																				0.460	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	
TENM3	55714	broad.mit.edu	37	4	183713572	183713573	+	Frame_Shift_Ins	INS	-	-	C	rs80197208	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:183713572_183713573insC	ENST00000511685.1	+	26	5870_5871	c.5747_5748insC	c.(5746-5751)aaccccfs	p.NP1916fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.NP1916fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1916					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E1919fs*37(1)									AACATATACAACCCCCCGGAAA	0.53																																					p.N1916fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.5747_5748insC	4						.																																			183950567	SO:0001589	frameshift_variant	55714	exon25			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5753dupC	4.37:g.183713578_183713578dupC	ENSP00000424226:p.Asn1916fs	Somatic		Capture	Illumina HiSeq	Phase_I	183950566	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Ins	INS	ENST00000511685.1	37	CCDS47165.1																																																																																				0.530	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
ZNF518B	85460	broad.mit.edu	37	4	10445658	10445658	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:10445658A>G	ENST00000326756.3	-	3	2733	c.2295T>C	c.(2293-2295)caT>caC	p.H765H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	765					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H765H(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCGTGGCAACATGAGCCTTCC	0.453																																					p.H765H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2295C	4						.						92.0	93.0	93.0					4																	10445658		2203	4300	6503	10054756	SO:0001819	synonymous_variant	85460	exon3			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2295T>C	4.37:g.10445658A>G		Somatic		Capture	Illumina HiSeq	Phase_I	10054756	NM_053042	Q96LN8	Silent	SNP	ENST00000326756.3	37	CCDS33960.1																																																																																				0.453	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
PPA2	27068	broad.mit.edu	37	4	106359153	106359153	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:106359153C>T	ENST00000341695.5	-	6	512	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	PPA2_ENST00000348706.5_Intron|PPA2_ENST00000380004.2_Missense_Mutation_p.C143Y|PPA2_ENST00000357415.4_Missense_Mutation_p.C176Y|PPA2_ENST00000432483.2_Intron|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000310267.7_Missense_Mutation_p.C82Y|PPA2_ENST00000354147.3_Intron	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	161					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)	p.C161Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATCTCCAAAGCAGTTCGTGCT	0.299																																					p.C161Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	4						.						116.0	115.0	115.0					4																	106359153		2202	4300	6502	106578602	SO:0001583	missense	27068	exon6				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.482G>A	4.37:g.106359153C>T	ENSP00000343885:p.Cys161Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	106578602	NM_176869	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	CCDS3667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.000298|4.000298	0.74818|0.74818	.|.	.|.	ENSG00000138777|ENSG00000138777	ENST00000508518|ENST00000341695;ENST00000357415;ENST00000380004;ENST00000510015;ENST00000310267;ENST00000504028;ENST00000502596	.|T;T;T;T;T;T;T	.|0.40756	.|1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59445|0.59445	0.2194|0.2194	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|B;P;P	.|0.49358	.|0.36;0.923;0.603	.|P;P;B	.|0.49085	.|0.566;0.6;0.335	T|T	0.63175|0.63175	-0.6696|-0.6696	5|10	.|0.37606	.|T	.|0.19	-32.0517|-32.0517	19.1895|19.1895	0.93658|0.93658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|82;143;161	.|B4DFH3;E2QRM6;Q9H2U2	.|.;.;IPYR2_HUMAN	T|Y	140|161;176;143;88;82;156;82	.|ENSP00000343885:C161Y;ENSP00000349996:C176Y;ENSP00000369340:C143Y;ENSP00000423363:C88Y;ENSP00000311150:C82Y;ENSP00000421177:C156Y;ENSP00000426347:C82Y	.|ENSP00000311150:C82Y	A|C	-|-	1|2	0|0	PPA2|PPA2	106578602|106578602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	4.807000|4.807000	0.62576|0.62576	2.526000|2.526000	0.85167|0.85167	0.563000|0.563000	0.77884|0.77884	GCT|TGC		0.299	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869	
SGMS2	166929	broad.mit.edu	37	4	108820736	108820736	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:108820736T>C	ENST00000394684.4	+	4	1018	c.461T>C	c.(460-462)aTa>aCa	p.I154T	RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.I154T|SGMS2_ENST00000394686.3_Missense_Mutation_p.I154T|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	154					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.I154T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TTTAGGTCAATAGTGGGACGC	0.338																																					p.I154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T461C	4						.						168.0	167.0	167.0					4																	108820736		2203	4300	6503	109040185	SO:0001583	missense	166929	exon3			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.461T>C	4.37:g.108820736T>C	ENSP00000378176:p.Ile154Thr	Somatic		Capture	Illumina HiSeq	Phase_I	109040185	NM_001136257	A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538330	0.85917	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.55588	0.51;0.51;0.51	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.71296	2.17	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.72981	-0.4126	10	0.52906	T	0.07	-19.9474	16.2806	0.82678	0.0:0.0:0.0:1.0	.	154	Q8NHU3	SMS2_HUMAN	T	154	ENSP00000378176:I154T;ENSP00000351981:I154T;ENSP00000378178:I154T	ENSP00000351981:I154T	I	+	2	0	SGMS2	109040185	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	8.040000	0.89188	2.248000	0.74166	0.533000	0.62120	ATA		0.338	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
KIAA1109	84162	broad.mit.edu	37	4	123140632	123140632	+	Silent	SNP	T	T	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:123140632T>G	ENST00000264501.4	+	21	2758	c.2385T>G	c.(2383-2385)ggT>ggG	p.G795G	KIAA1109_ENST00000455637.1_Silent_p.G795G|KIAA1109_ENST00000388738.3_Silent_p.G795G|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	795					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G795G(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAATGAAGGTTCAGCCAAGT	0.413																																					p.G795G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2385G	4						.						223.0	210.0	214.0					4																	123140632		1894	4131	6025	123360082	SO:0001819	synonymous_variant	84162	exon19			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2385T>G	4.37:g.123140632T>G		Somatic		Capture	Illumina HiSeq	Phase_I	123360082	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	8.524	0.869393	0.17322	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.74	3.19	0.36642	.	.	.	.	.	T	0.46600	0.1401	.	.	.	0.35127	D	0.767578	.	.	.	.	.	.	T	0.54282	-0.8317	4	.	.	.	.	4.9407	0.13963	0.3129:0.1249:0.0:0.5622	.	.	.	.	V	628	.	.	F	+	1	0	KIAA1109	123360082	0.954000	0.32549	1.000000	0.80357	0.982000	0.71751	0.105000	0.15333	2.187000	0.69744	0.482000	0.46254	TTC		0.413	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123171679	123171679	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:123171679G>A	ENST00000264501.4	+	37	6246	c.5873G>A	c.(5872-5874)cGg>cAg	p.R1958Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1958Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1958Q			Q2LD37	K1109_HUMAN	KIAA1109	1958					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R1958Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCATGTGACCGGACAAGCCCT	0.383																																					p.R1958Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5873A	4						.						115.0	108.0	110.0					4																	123171679		1880	4088	5968	123391129	SO:0001583	missense	84162	exon35			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5873G>A	4.37:g.123171679G>A	ENSP00000264501:p.Arg1958Gln	Somatic		Capture	Illumina HiSeq	Phase_I	123391129	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.56|11.56	1.676043|1.676043	0.29783|0.29783	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.22134	.|2.56;2.56;1.97	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.395887	.|0.17214	.|U	.|0.182587	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.08118|0.08118	0|0	0.29038|0.29038	N|N	0.885256|0.885256	.|B;B	.|0.12013	.|0.005;0.001	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.13072|0.13072	-1.0523|-1.0523	5|10	.|0.14656	.|T	.|0.56	.|.	13.9012|13.9012	0.63804|0.63804	0.0726:0.0:0.9274:0.0|0.0726:0.0:0.9274:0.0	.|.	.|1957;1958	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	R|Q	531|1958	.|ENSP00000264501:R1958Q;ENSP00000373390:R1958Q;ENSP00000389925:R1958Q	.|ENSP00000264501:R1958Q	G|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123391129|123391129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.218000|3.218000	0.51192|0.51192	2.660000|2.660000	0.90430|0.90430	0.650000|0.650000	0.86243|0.86243	GGA|CGG		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123175372	123175372	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:123175372A>C	ENST00000264501.4	+	38	6318	c.5945A>C	c.(5944-5946)gAt>gCt	p.D1982A	KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1982A|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1982A			Q2LD37	K1109_HUMAN	KIAA1109	1982					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D1982A(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAATCTGATGATTTGAAAAAA	0.363																																					p.D1982A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5945C	4						.						121.0	108.0	112.0					4																	123175372		1850	4087	5937	123394822	SO:0001583	missense	84162	exon36			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5945A>C	4.37:g.123175372A>C	ENSP00000264501:p.Asp1982Ala	Somatic		Capture	Illumina HiSeq	Phase_I	123394822	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.00|12.00	1.806155|1.806155	0.31961|0.31961	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.23950|.	2.48;2.48;1.88|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.52532|.	U|.	0.000080|.	T|T	0.61110|0.61110	0.2321|0.2321	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.999989|0.999989	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.83275|.	0.996;0.991|.	T|T	0.58411|0.58411	-0.7641|-0.7641	10|5	0.14656|.	T|.	0.56|.	.|.	15.3548|15.3548	0.74418|0.74418	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1981;1982|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	A|L	1982|555	ENSP00000264501:D1982A;ENSP00000373390:D1982A;ENSP00000389925:D1982A|.	ENSP00000264501:D1982A|.	D|I	+|+	2|1	0|0	KIAA1109|KIAA1109	123394822|123394822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.262000|9.262000	0.95591|0.95591	2.034000|2.034000	0.60081|0.60081	0.482000|0.482000	0.46254|0.46254	GAT|ATT		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
FAT4	79633	broad.mit.edu	37	4	126240311	126240311	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:126240311C>A	ENST00000394329.3	+	1	2758	c.2745C>A	c.(2743-2745)gcC>gcA	p.A915A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	915	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A915A(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTTCCAGGCCAAAGCTGTGG	0.448																																					p.A915A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2745A	4						.						46.0	48.0	47.0					4																	126240311		1949	4155	6104	126459761	SO:0001819	synonymous_variant	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2745C>A	4.37:g.126240311C>A		Somatic		Capture	Illumina HiSeq	Phase_I	126459761	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.448	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PCDH10	57575	broad.mit.edu	37	4	134073005	134073005	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:134073005C>T	ENST00000264360.5	+	1	2536	c.1710C>T	c.(1708-1710)aaC>aaT	p.N570N	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	570	Cadherin 5. {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)	p.N570N(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAATGACAACGCCCCTGCCA	0.652																																					p.N570N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1710T	4						.						34.0	39.0	37.0					4																	134073005		2126	4193	6319	134292455	SO:0001819	synonymous_variant	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1710C>T	4.37:g.134073005C>T		Somatic		Capture	Illumina HiSeq	Phase_I	134292455	NM_032961	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																				0.652	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
DCLK2	166614	broad.mit.edu	37	4	151023666	151023666	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:151023666G>A	ENST00000296550.7	+	2	1212	c.458G>A	c.(457-459)cGt>cAt	p.R153H	DCLK2_ENST00000302176.8_Missense_Mutation_p.R153H|DCLK2_ENST00000506325.1_Missense_Mutation_p.R153H	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	153	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R153H(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GAACCATTTCGTAAAGTCGAT	0.398																																					p.R153H	GBM(195;186 2215 13375 16801 37459)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G458A	4						.						62.0	66.0	64.0					4																	151023666		2202	4299	6501	151243116	SO:0001583	missense	166614	exon2			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.458G>A	4.37:g.151023666G>A	ENSP00000296550:p.Arg153His	Somatic		Capture	Illumina HiSeq	Phase_I	151243116	NM_001040260	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059811	0.93846	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	D;D;D	0.92397	-3.03;-3.03;-3.03	4.96	4.96	0.65561	Doublecortin domain (5);	0.098153	0.64402	D	0.000001	D	0.93890	0.8045	L	0.38531	1.155	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.69307	0.91;0.938;0.963	D	0.94550	0.7753	10	0.87932	D	0	.	19.1094	0.93310	0.0:0.0:1.0:0.0	.	153;153;153	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	H	153	ENSP00000296550:R153H;ENSP00000427235:R153H;ENSP00000303887:R153H	ENSP00000296550:R153H	R	+	2	0	DCLK2	151243116	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	3.896000	0.56266	2.696000	0.92011	0.557000	0.71058	CGT		0.398	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	
LRBA	987	broad.mit.edu	37	4	151186901	151186901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:151186901C>T	ENST00000357115.3	-	58	8808	c.8565G>A	c.(8563-8565)tgG>tgA	p.W2855*	LRBA_ENST00000510413.1_Nonsense_Mutation_p.W2843*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.W2844*|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2855						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W2855*(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTCATGATGCCACCGGTTAA	0.463																																					p.W2855X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8565A	4						.						139.0	125.0	130.0					4																	151186901		2203	4300	6503	151406351	SO:0001587	stop_gained	987	exon58			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8565G>A	4.37:g.151186901C>T	ENSP00000349629:p.Trp2855*	Somatic		Capture	Illumina HiSeq	Phase_I	151406351	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	51|51	17.695138|17.695138	0.99891|0.99891	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48502|.	0.1503|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37220|.	-0.9715|.	4|.	.|0.02654	.|T	.|1	.|.	20.2422|20.2422	0.98381|0.98381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	1497|2844;2843;2855	.|.	.|ENSP00000349629:W2855X	G|W	-|-	2|3	0|0	LRBA|LRBA	151406351|151406351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.463	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
FGA	2243	broad.mit.edu	37	4	155510666	155510666	+	Missense_Mutation	SNP	G	G	A	rs121909606		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:155510666G>A	ENST00000302053.3	-	2	181	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FGA_ENST00000403106.3_Missense_Mutation_p.R35C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H. {ECO:0000269|PubMed:8461606}.		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)	p.R35C(1)		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)	CTTGGGCCACGCACGCCTCCT	0.493																																					p.R35C	NSCLC(143;340 1922 20892 22370 48145)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C103T	4	GRCh37	CM930249	FGA	M	rs121909606	.						155.0	145.0	148.0					4																	155510666		2203	4300	6503	155730116	SO:0001583	missense	2243	exon2				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.103C>T	4.37:g.155510666G>A	ENSP00000306361:p.Arg35Cys	Somatic		Capture	Illumina HiSeq	Phase_I	155730116	NM_021871	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713301	0.68730	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	T;T	0.76186	-1.0;1.58	5.58	5.58	0.84498	.	0.293343	0.38436	N	0.001687	D	0.86818	0.6024	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.87693	0.2555	10	0.87932	D	0	.	19.5768	0.95447	0.0:0.0:1.0:0.0	.	35;35;35	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	C	35	ENSP00000306361:R35C;ENSP00000385981:R35C	ENSP00000306361:R35C	R	-	1	0	FGA	155730116	1.000000	0.71417	0.955000	0.39395	0.266000	0.26442	6.473000	0.73572	2.622000	0.88805	0.650000	0.86243	CGT		0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
NPY2R	4887	broad.mit.edu	37	4	156136173	156136173	+	Missense_Mutation	SNP	A	A	C	rs148440232		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:156136173A>C	ENST00000329476.3	+	2	1571	c.1082A>C	c.(1081-1083)aAg>aCg	p.K361T	NPY2R_ENST00000506608.1_Missense_Mutation_p.K361T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	361					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.K361T(1)|p.K361R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	AAGGCTAAAAAGAACCTGGAG	0.483																																					p.K361T												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.A1082C	4						.						82.0	85.0	84.0					4																	156136173		2203	4300	6503	156355623	SO:0001583	missense	4887	exon2			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.1082A>C	4.37:g.156136173A>C	ENSP00000332591:p.Lys361Thr	Somatic		Capture	Illumina HiSeq	Phase_I	156355623	NM_000910	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258900	0.39896	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.71341	-0.56;-0.56	5.74	4.53	0.55603	.	0.153217	0.43747	D	0.000532	T	0.56077	0.1961	L	0.29908	0.895	0.47698	D	0.999498	B	0.02656	0.0	B	0.04013	0.001	T	0.47129	-0.9141	10	0.15499	T	0.54	.	12.1517	0.54053	0.8567:0.1433:0.0:0.0	.	361	P49146	NPY2R_HUMAN	T	361	ENSP00000332591:K361T;ENSP00000426366:K361T	ENSP00000332591:K361T	K	+	2	0	NPY2R	156355623	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.333000	0.65917	0.969000	0.38237	0.523000	0.50628	AAG		0.483	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	
GUCY1A3	2982	broad.mit.edu	37	4	156631866	156631866	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:156631866C>A	ENST00000296518.7	+	6	758	c.549C>A	c.(547-549)ggC>ggA	p.G183G	GUCY1A3_ENST00000455639.2_Silent_p.G183G|GUCY1A3_ENST00000506455.1_Silent_p.G183G|GUCY1A3_ENST00000513574.1_Silent_p.G183G|GUCY1A3_ENST00000511108.1_Silent_p.G183G|GUCY1A3_ENST00000511507.1_Silent_p.G183G|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	183					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.G183G(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAAAAGGGGCAGGCTTGAGG	0.473																																					p.G183G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549A	4						.						46.0	53.0	50.0					4																	156631866		2203	4300	6503	156851316	SO:0001819	synonymous_variant	2982	exon6				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.549C>A	4.37:g.156631866C>A		Somatic		Capture	Illumina HiSeq	Phase_I	156851316	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.473	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
RAPGEF2	9693	broad.mit.edu	37	4	160264537	160264537	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:160264537G>A	ENST00000264431.4	+	16	3171	c.2752G>A	c.(2752-2754)Gcc>Acc	p.A918T		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	918	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.A906T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CATGGACCCTGCCCTCATGTT	0.428																																					p.A918T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2752A	4						.						106.0	104.0	105.0					4																	160264537		1941	4143	6084	160483987	SO:0001583	missense	9693	exon16			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2752G>A	4.37:g.160264537G>A	ENSP00000264431:p.Ala918Thr	Somatic		Capture	Illumina HiSeq	Phase_I	160483987	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.438816|5.438816	0.96168|0.96168	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000502485	T|.	0.39997|.	1.05|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68805|0.68805	0.3041|0.3041	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	P|.	0.51351|.	0.944|.	P|.	0.52343|.	0.696|.	T|T	0.63193|0.63193	-0.6692|-0.6692	10|5	0.56958|.	D|.	0.05|.	.|.	19.8852|19.8852	0.96909|0.96909	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	918|.	Q9Y4G8|.	RPGF2_HUMAN|.	T|Y	918|31	ENSP00000264431:A918T|.	ENSP00000264431:A918T|.	A|C	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160483987|160483987	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.961000|0.961000	0.63080|0.63080	9.864000|9.864000	0.99589|0.99589	2.697000|2.697000	0.92050|0.92050	0.491000|0.491000	0.48974|0.48974	GCC|TGC		0.428	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
CPE	1363	broad.mit.edu	37	4	166300587	166300587	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:166300587G>A	ENST00000402744.4	+	1	494	c.214G>A	c.(214-216)Gcc>Acc	p.A72T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	72					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.A72T(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCAGTGCACCGCCATCAGCAG	0.677																																					p.A72T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	4						.						13.0	13.0	13.0					4																	166300587		2141	4196	6337	166520037	SO:0001583	missense	1363	exon1			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.214G>A	4.37:g.166300587G>A	ENSP00000386104:p.Ala72Thr	Somatic		Capture	Illumina HiSeq	Phase_I	166520037	NM_001873	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746943	0.30955	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.03242	4.0	4.06	3.12	0.35913	Peptidase M14, carboxypeptidase A (1);	0.360734	0.31210	N	0.008054	T	0.02571	0.0078	N	0.13043	0.29	0.42926	D	0.994303	B	0.17465	0.022	B	0.12837	0.008	T	0.53229	-0.8468	10	0.29301	T	0.29	-8.3216	11.1128	0.48243	0.0:0.0:0.6913:0.3087	.	72	P16870	CBPE_HUMAN	T	72;36	ENSP00000386104:A72T	ENSP00000261510:A36T	A	+	1	0	CPE	166520037	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.601000	0.36773	2.089000	0.63090	0.305000	0.20034	GCC		0.677	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
ANXA10	11199	broad.mit.edu	37	4	169049238	169049238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:169049238C>T	ENST00000359299.3	+	2	208	c.22C>T	c.(22-24)Caa>Taa	p.Q8*		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	8						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.Q8*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CCACCAGGTGCAAGGAACCAT	0.433																																					p.Q8X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C22T	4						.						108.0	104.0	106.0					4																	169049238		2203	4300	6503	169285813	SO:0001587	stop_gained	11199	exon2			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.22C>T	4.37:g.169049238C>T	ENSP00000352248:p.Gln8*	Somatic		Capture	Illumina HiSeq	Phase_I	169285813	NM_007193	Q96IQ5|Q9UJV4	Nonsense_Mutation	SNP	ENST00000359299.3	37	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	C	37	5.988411	0.97179	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	.	.	.	5.66	3.93	0.45458	.	0.082765	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	10.1629	0.42862	0.0:0.8403:0.0:0.1597	.	.	.	.	X	8	.	ENSP00000352248:Q8X	Q	+	1	0	ANXA10	169285813	0.961000	0.32948	0.615000	0.29064	0.894000	0.52154	2.122000	0.41987	0.740000	0.32651	0.591000	0.81541	CAA		0.433	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193	
TENM3	55714	broad.mit.edu	37	4	183635339	183635339	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:183635339A>G	ENST00000511685.1	+	13	2444	c.2321A>G	c.(2320-2322)gAc>gGc	p.D774G	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.D774G			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	774	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D774G(1)									GCAGGCTGTGACGTAGCCATG	0.517																																					p.D774G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2321G	4						.						101.0	98.0	99.0					4																	183635339		2077	4210	6287	183872333	SO:0001583	missense	55714	exon12			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2321A>G	4.37:g.183635339A>G	ENSP00000424226:p.Asp774Gly	Somatic		Capture	Illumina HiSeq	Phase_I	183872333	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506906	0.26949	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.92048	-2.96;-2.96	5.4	5.4	0.78164	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90075	0.6900	L	0.52126	1.63	0.80722	D	1	P	0.35923	0.528	B	0.38156	0.266	D	0.88881	0.3339	9	0.33940	T	0.23	.	15.5887	0.76506	1.0:0.0:0.0:0.0	.	774	Q9P273	TEN3_HUMAN	G	774	ENSP00000424226:D774G;ENSP00000385276:D774G	ENSP00000385276:D774G	D	+	2	0	ODZ3	183872333	1.000000	0.71417	0.852000	0.33557	0.757000	0.42996	9.079000	0.94032	2.267000	0.75376	0.477000	0.44152	GAC		0.517	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
GAK	2580	broad.mit.edu	37	4	845648	845648	+	Frame_Shift_Del	DEL	G	G	-	rs150254936		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:845648delG	ENST00000314167.4	-	25	3508	c.3398delC	c.(3397-3399)cctfs	p.P1133fs	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Frame_Shift_Del_p.P1054fs	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1133					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P1133fs*23(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTTGGCCTGAGGGGGCCATGA	0.677																																					p.P1133fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3398delC	4						.						30.0	36.0	34.0					4																	845648		2203	4298	6501	835648	SO:0001589	frameshift_variant	2580	exon25			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3398delC	4.37:g.845648delG	ENSP00000314499:p.Pro1133fs	Somatic		Capture	Illumina HiSeq	Phase_I	835648	NM_005255	Q5U4P5|Q9BVY6	Frame_Shift_Del	DEL	ENST00000314167.4	37	CCDS3340.1																																																																																				0.677	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	
ADRA2C	152	broad.mit.edu	37	4	3768987	3768987	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:3768987C>A	ENST00000330055.5	+	1	863	c.654C>A	c.(652-654)tcC>tcA	p.S218S	ADRA2C_ENST00000509482.1_Silent_p.S218S	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	218		Implicated in catechol agonist binding and receptor activation. {ECO:0000250}.			activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|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)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S218S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|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)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCATCGGCTCCTTCTTCGCGC	0.697																																					p.S218S	Esophageal Squamous(12;454 628 4517 14479)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C654A	4						.						18.0	19.0	19.0					4																	3768987		2187	4288	6475	3738785	SO:0001819	synonymous_variant	152	exon1			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.654C>A	4.37:g.3768987C>A		Somatic		Capture	Illumina HiSeq	Phase_I	3738785	NM_000683	P35369|Q9HB49	Silent	SNP	ENST00000330055.5	37	CCDS47004.1																																																																																				0.697	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683	
C4orf6	10141	broad.mit.edu	37	4	5528015	5528015	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:5528015G>A	ENST00000195455.2	+	2	414	c.239G>A	c.(238-240)aGt>aAt	p.S80N	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	80					nervous system development (GO:0007399)			p.S80N(1)		large_intestine(1)|prostate(1)	2						CCAAACCCCAGTGTGACTGTC	0.473																																					p.S80N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239A	4						.						111.0	102.0	105.0					4																	5528015		2203	4300	6503	5578916	SO:0001583	missense	10141	exon2			D82070	CCDS3381.1	4p16	2012-02-24			ENSG00000082929	ENSG00000082929			13716	protein-coding gene	gene with protein product						9016955	Standard	NM_005750		Approved	aC1	uc003gii.3	Q99440	OTTHUMG00000125492	ENST00000195455.2:c.239G>A	4.37:g.5528015G>A	ENSP00000195455:p.Ser80Asn	Somatic		Capture	Illumina HiSeq	Phase_I	5578916	NM_005750	Q17R65	Missense_Mutation	SNP	ENST00000195455.2	37	CCDS3381.1	.	.	.	.	.	.	.	.	.	.	G	5.484	0.274363	0.10403	.	.	ENSG00000082929	ENST00000195455	T	0.55052	0.54	1.1	0.114	0.14639	.	.	.	.	.	T	0.33614	0.0869	.	.	.	0.09310	N	1	P	0.46020	0.871	B	0.34722	0.188	T	0.21793	-1.0235	8	0.87932	D	0	.	4.8111	0.13344	0.0:0.3998:0.6002:0.0	.	80	Q99440	CD006_HUMAN	N	80	ENSP00000195455:S80N	ENSP00000195455:S80N	S	+	2	0	C4orf6	5578916	0.015000	0.18098	0.000000	0.03702	0.013000	0.08279	0.982000	0.29539	0.008000	0.14787	0.462000	0.41574	AGT		0.473	C4orf6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246818.1	NM_005750	
CRMP1	1400	broad.mit.edu	37	4	5838520	5838520	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:5838520C>T	ENST00000397890.2	-	10	1296	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	CRMP1_ENST00000512574.1_Missense_Mutation_p.R359Q|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.R475Q	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	361				Missing (in Ref. 7; AAK55500). {ECO:0000305}.	axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R475Q(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GACCGTCATCCGCTCCTCTAT	0.577																																					p.R361Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1082A	4						.						142.0	117.0	126.0					4																	5838520		2203	4300	6503	5889421	SO:0001583	missense	1400	exon10			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1082G>A	4.37:g.5838520C>T	ENSP00000380987:p.Arg361Gln	Somatic		Capture	Illumina HiSeq	Phase_I	5889421	NM_001313	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310305	0.95629	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90133	-2.62;-2.62;-2.62	4.16	4.16	0.48862	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.97025	0.9028	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.987	D	0.98442	1.0587	10	0.87932	D	0	-17.74	15.975	0.80057	0.0:1.0:0.0:0.0	.	475;359;361;298	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	Q	475;361;361;359	ENSP00000321606:R475Q;ENSP00000380987:R361Q;ENSP00000425742:R359Q	ENSP00000321606:R475Q	R	-	2	0	CRMP1	5889421	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.322000	0.79097	2.329000	0.79093	0.462000	0.41574	CGG		0.577	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313	
JAKMIP1	152789	broad.mit.edu	37	4	6031497	6031497	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:6031497T>C	ENST00000409021.3	-	20	2840	c.2391A>G	c.(2389-2391)gaA>gaG	p.E797E	JAKMIP1_ENST00000409371.3_Silent_p.E612E	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.E797E(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTCCTCCAGTTCTCGGATTC	0.418																																					p.E797E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2391G	4						.						95.0	86.0	89.0					4																	6031497		1845	4103	5948	6082398	SO:0001819	synonymous_variant	152789	exon20			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2391A>G	4.37:g.6031497T>C		Somatic		Capture	Illumina HiSeq	Phase_I	6082398	NM_001099433	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000409021.3	37	CCDS47005.1	.	.	.	.	.	.	.	.	.	.	t	3.146	-0.175232	0.06421	.	.	ENSG00000152969	ENST00000418227	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	T	0.57784	0.2077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67628	-0.5622	5	0.33141	T	0.24	.	12.309	0.54918	0.0:0.5604:0.2314:0.2082	.	.	.	.	A	387	.	ENSP00000406526:T387A	T	-	1	0	JAKMIP1	6082398	0.000000	0.05858	0.048000	0.18961	0.595000	0.36748	-3.543000	0.00436	-2.240000	0.00710	-1.211000	0.01629	ACT		0.418	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720	
KIAA0232	9778	broad.mit.edu	37	4	6865718	6865718	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:6865718A>G	ENST00000307659.5	+	7	4064	c.3609A>G	c.(3607-3609)tcA>tcG	p.S1203S	KIAA0232_ENST00000425103.1_Silent_p.S1203S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1203							ATP binding (GO:0005524)	p.S1203S(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GGATTCTTTCAGTAGGAAAGC	0.393																																					p.S1203S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3609G	4						.						58.0	55.0	56.0					4																	6865718		1820	4077	5897	6916619	SO:0001819	synonymous_variant	9778	exon7			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3609A>G	4.37:g.6865718A>G		Somatic		Capture	Illumina HiSeq	Phase_I	6916619	NM_014743	A7E2D2	Silent	SNP	ENST00000307659.5	37	CCDS43209.1																																																																																				0.393	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
GRPEL1	80273	broad.mit.edu	37	4	7062633	7062633	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:7062633G>A	ENST00000264954.4	-	4	774	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	204					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)	p.R204C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTCAGAGTGCGCCCATGCAGC	0.557																																					p.R204C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610T	4						.						139.0	150.0	146.0					4																	7062633		2203	4300	6503	7113534	SO:0001583	missense	80273	exon4			AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.610C>T	4.37:g.7062633G>A	ENSP00000264954:p.Arg204Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7113534	NM_025196	B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	37	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196493	0.94960	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	5.65	0.86999	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	D	0.90827	0.7119	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93698	0.7013	9	0.72032	D	0.01	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	204	Q9HAV7	GRPE1_HUMAN	C	204;183	.	ENSP00000264954:R204C	R	-	1	0	GRPEL1	7113534	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.197000	0.94985	2.659000	0.90383	0.561000	0.74099	CGC		0.557	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196	
ABLIM2	84448	broad.mit.edu	37	4	8089975	8089975	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:8089975G>A	ENST00000341937.5	-	4	439	c.375C>T	c.(373-375)aaC>aaT	p.N125N	ABLIM2_ENST00000361737.5_Silent_p.N125N|ABLIM2_ENST00000505872.1_Silent_p.N125N|ABLIM2_ENST00000428004.2_Silent_p.N125N|ABLIM2_ENST00000296372.8_Silent_p.N125N|ABLIM2_ENST00000545242.1_Silent_p.N125N|ABLIM2_ENST00000546334.1_Silent_p.N125N|ABLIM2_ENST00000447017.2_Silent_p.N125N|ABLIM2_ENST00000318888.4_De_novo_Start_OutOfFrame|ABLIM2_ENST00000407564.3_Silent_p.N125N|ABLIM2_ENST00000361581.5_Silent_p.N125N	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	125	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)	p.N125N(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ATTCCTTCCCGTTGAAGGTCA	0.647																																					p.N125N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	4						.						42.0	49.0	47.0					4																	8089975		2039	4171	6210	8140875	SO:0001819	synonymous_variant	84448	exon4			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.375C>T	4.37:g.8089975G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8140875	NM_001130083	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	De_novo_Start_OutOfFrame	SNP	ENST00000341937.5	37	CCDS47013.1																																																																																				0.647	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083	
ACOX3	8310	broad.mit.edu	37	4	8394085	8394085	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:8394085C>T	ENST00000356406.5	-	11	1352	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	ACOX3_ENST00000413009.2_Silent_p.A425A|ACOX3_ENST00000503233.1_Silent_p.A425A|RNA5SP152_ENST00000365184.1_RNA	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	425					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.A425A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GTCCTCCACACGCCTCCCGGC	0.602																																					p.A425A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1275A	4						.						161.0	165.0	163.0					4																	8394085		2203	4300	6503	8444985	SO:0001819	synonymous_variant	8310	exon11			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1275G>A	4.37:g.8394085C>T		Somatic		Capture	Illumina HiSeq	Phase_I	8444985	NM_003501	Q96AJ8	Silent	SNP	ENST00000356406.5	37	CCDS3401.1																																																																																				0.602	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
SEL1L3	23231	broad.mit.edu	37	4	25849258	25849258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:25849258delT	ENST00000399878.3	-	2	513	c.391delA	c.(391-393)aggfs	p.R131fs	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.R96fs|SEL1L3_ENST00000502949.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	131						integral component of membrane (GO:0016021)		p.R131fs*15(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTCTTCCACCTTTTTTTGTAC	0.383																																					p.R131fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.391delA	4						.						102.0	93.0	96.0					4																	25849258		1880	4121	6001	25458356	SO:0001589	frameshift_variant	23231	exon2			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.391delA	4.37:g.25849258delT	ENSP00000382767:p.Arg131fs	Somatic		Capture	Illumina HiSeq	Phase_I	25458356	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Frame_Shift_Del	DEL	ENST00000399878.3	37	CCDS47037.1																																																																																				0.383	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
ARAP2	116984	broad.mit.edu	37	4	36230657	36230657	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:36230657C>T	ENST00000303965.4	-	2	941	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	151					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R151H(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GGGGAAGTCGCGTTTAGGAGG	0.398																																					p.R151H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G452A	4						.						79.0	75.0	76.0					4																	36230657		2203	4300	6503	35907052	SO:0001583	missense	116984	exon2			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.452G>A	4.37:g.36230657C>T	ENSP00000302895:p.Arg151His	Somatic		Capture	Illumina HiSeq	Phase_I	35907052	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.239791	0.00274	.	.	ENSG00000047365	ENST00000303965	T	0.63255	-0.03	5.36	-4.66	0.03329	.	2.806130	0.01279	N	0.009683	T	0.27967	0.0689	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11397	-1.0589	10	0.22109	T	0.4	.	2.0256	0.03518	0.1662:0.371:0.1953:0.2675	.	81;151	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	H	151	ENSP00000302895:R151H	ENSP00000302895:R151H	R	-	2	0	ARAP2	35907052	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.051000	0.11885	-0.514000	0.06488	-1.128000	0.01989	CGC		0.398	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
TMEM156	80008	broad.mit.edu	37	4	39033885	39033885	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:39033885A>G	ENST00000381938.3	-	1	156	c.49T>C	c.(49-51)Ttc>Ctc	p.F17L	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	17						integral component of membrane (GO:0016021)		p.F17L(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTAAAATGAATGTGATCACT	0.333																																					p.F17L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T49C	4						.						64.0	57.0	60.0					4																	39033885		2202	4299	6501	38710280	SO:0001583	missense	80008	exon1			AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.49T>C	4.37:g.39033885A>G	ENSP00000371364:p.Phe17Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38710280	NM_024943	Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584610	0.46110	.	.	ENSG00000121895	ENST00000381938;ENST00000344606	T;T	0.52983	1.62;0.64	5.39	2.86	0.33363	.	0.300795	0.29046	N	0.013301	T	0.39759	0.1090	L	0.58101	1.795	0.33222	D	0.554753	B	0.15930	0.015	B	0.16722	0.016	T	0.46133	-0.9213	10	0.87932	D	0	-4.9577	4.4948	0.11831	0.7133:0.0:0.0918:0.1948	.	17	Q8N614	TM156_HUMAN	L	17	ENSP00000371364:F17L;ENSP00000343758:F17L	ENSP00000343758:F17L	F	-	1	0	TMEM156	38710280	0.992000	0.36948	0.915000	0.36163	0.697000	0.40408	1.091000	0.30915	0.387000	0.25024	0.482000	0.46254	TTC		0.333	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943	
GABRG1	2565	broad.mit.edu	37	4	46043022	46043022	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:46043022C>A	ENST00000295452.4	-	9	1548	c.1381G>T	c.(1381-1383)Ggc>Tgc	p.G461C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	461					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G461C(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAAAGATAGCCAACCCAATAA	0.338																																					p.G461C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1381T	4						.						67.0	73.0	71.0					4																	46043022		2203	4299	6502	45737779	SO:0001583	missense	2565	exon9			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1381G>T	4.37:g.46043022C>A	ENSP00000295452:p.Gly461Cys	Somatic		Capture	Illumina HiSeq	Phase_I	45737779	NM_173536	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050347	0.55218	.	.	ENSG00000163285	ENST00000295452	D	0.84944	-1.92	5.48	5.48	0.80851	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.053534	0.85682	D	0.000000	D	0.85860	0.5795	N	0.25485	0.75	0.43179	D	0.994992	D	0.71674	0.998	D	0.63033	0.91	D	0.86589	0.1859	10	0.52906	T	0.07	.	13.3276	0.60469	0.1578:0.8422:0.0:0.0	.	461	Q8N1C3	GBRG1_HUMAN	C	461	ENSP00000295452:G461C	ENSP00000295452:G461C	G	-	1	0	GABRG1	45737779	0.000000	0.05858	1.000000	0.80357	0.861000	0.49209	0.292000	0.19011	2.580000	0.87095	0.467000	0.42956	GGC		0.338	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
FRYL	285527	broad.mit.edu	37	4	48512986	48512986	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:48512986A>G	ENST00000503238.1	-	55	8160	c.8161T>C	c.(8161-8163)Ttt>Ctt	p.F2721L	FRYL_ENST00000264319.7_Missense_Mutation_p.F117L|FRYL_ENST00000507873.2_Missense_Mutation_p.F117L|FRYL_ENST00000537810.1_Missense_Mutation_p.F2721L|FRYL_ENST00000358350.4_Missense_Mutation_p.F2721L			O94915	FRYL_HUMAN	FRY-like	2721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.F2721L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTTCTCCAAACTTTCTTTGA	0.358																																					p.F2721L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8161C	4						.						66.0	61.0	63.0					4																	48512986		1854	4089	5943	48207743	SO:0001583	missense	285527	exon58			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8161T>C	4.37:g.48512986A>G	ENSP00000426064:p.Phe2721Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48207743	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115810	0.56505	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.23552	1.9;1.9;1.9	5.73	5.73	0.89815	.	0.000000	0.85682	U	0.000000	T	0.49440	0.1557	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.81914	0.989;0.995;0.991	T	0.38156	-0.9674	10	0.23891	T	0.37	.	16.3197	0.82945	1.0:0.0:0.0:0.0	.	2721;2721;117	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	L	2721;2721;2721;117;117	ENSP00000426064:F2721L;ENSP00000351113:F2721L;ENSP00000441114:F2721L	ENSP00000264319:F117L	F	-	1	0	FRYL	48207743	1.000000	0.71417	0.994000	0.49952	0.026000	0.11368	8.823000	0.92018	2.302000	0.77476	0.533000	0.62120	TTT		0.358	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
TMEM165	55858	broad.mit.edu	37	4	56290754	56290754	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:56290754C>T	ENST00000381334.5	+	5	1075	c.842C>T	c.(841-843)aCg>aTg	p.T281M	TMEM165_ENST00000506198.1_Missense_Mutation_p.T86M|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.T218M	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	281					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.T281M(1)		endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TGCCTGTGCACGGGATTGGCA	0.453																																					p.T281M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C842T	4						.						128.0	120.0	122.0					4																	56290754		2203	4300	6503	55985511	SO:0001583	missense	55858	exon5			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.842C>T	4.37:g.56290754C>T	ENSP00000370736:p.Thr281Met	Somatic		Capture	Illumina HiSeq	Phase_I	55985511	NM_018475	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074269	0.76415	.	.	ENSG00000134851	ENST00000381334;ENST00000506198;ENST00000542052	D;D;D	0.84298	-1.83;-1.83;-1.83	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96872	0.9640	10	0.87932	D	0	-19.6053	18.6025	0.91253	0.0:1.0:0.0:0.0	.	218;281	B4DHW1;Q9HC07	.;TM165_HUMAN	M	281;86;218	ENSP00000370736:T281M;ENSP00000425449:T86M;ENSP00000437816:T218M	ENSP00000370736:T281M	T	+	2	0	TMEM165	55985511	1.000000	0.71417	0.964000	0.40570	0.342000	0.28953	7.175000	0.77632	2.832000	0.97577	0.655000	0.94253	ACG		0.453	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475	
UGT2A1	10941	broad.mit.edu	37	4	70513073	70513073	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:70513073delT	ENST00000503640.1	-	1	345	c.290delA	c.(289-291)aatfs	p.N97fs	UGT2A1_ENST00000286604.4_Frame_Shift_Del_p.N97fs|UGT2A1_ENST00000514019.1_Frame_Shift_Del_p.N97fs|UGT2A1_ENST00000512704.1_Frame_Shift_Del_p.N97fs	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	97					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.N97fs*18(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGATGGTCTATTTTCCAGCCA	0.418																																					p.N97fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.290delA	4						.						85.0	80.0	82.0					4																	70513073		2203	4300	6503	70547662	SO:0001589	frameshift_variant	10941	exon1			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.290delA	4.37:g.70513073delT	ENSP00000424478:p.Asn97fs	Somatic		Capture	Illumina HiSeq	Phase_I	70547662	NM_006798	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Frame_Shift_Del	DEL	ENST00000503640.1	37	CCDS3529.1																																																																																				0.418	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
PPEF2	5470	broad.mit.edu	37	4	76797598	76797598	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:76797598G>A	ENST00000286719.7	-	11	1518	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	388	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.R388W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGCACCTGCCGGGAGAGCTCC	0.672																																					p.R388W	NSCLC(105;1359 1603 15961 44567 47947)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1162T	4						.						27.0	28.0	28.0					4																	76797598		2203	4300	6503	77016622	SO:0001583	missense	5470	exon11			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1162C>T	4.37:g.76797598G>A	ENSP00000286719:p.Arg388Trp	Somatic		Capture	Illumina HiSeq	Phase_I	77016622	NM_006239	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857994	0.51376	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.41758	0.99	4.56	1.47	0.22746	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	2.758630	0.02026	U	0.048216	T	0.50497	0.1619	L	0.55481	1.735	0.09310	N	0.999998	P;D	0.69078	0.77;0.997	B;P	0.54815	0.292;0.761	T	0.29366	-1.0014	10	0.66056	D	0.02	-6.0813	3.2647	0.06860	0.2264:0.0:0.4575:0.3161	.	388;388	O14830-2;O14830	.;PPE2_HUMAN	W	388	ENSP00000286719:R388W	ENSP00000286719:R388W	R	-	1	2	PPEF2	77016622	0.000000	0.05858	0.597000	0.28824	0.613000	0.37349	-0.194000	0.09559	0.926000	0.37118	0.313000	0.20887	CGG		0.672	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
FRAS1	80144	broad.mit.edu	37	4	79188452	79188452	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:79188452G>A	ENST00000325942.6	+	9	1287	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	FRAS1_ENST00000264895.6_Missense_Mutation_p.G283R|FRAS1_ENST00000264899.6_Missense_Mutation_p.G283R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	283	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.G283R(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTCTCCTGCCGGGAGCTGCTC	0.587																																					p.G283R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G847A	4						.						89.0	92.0	91.0					4																	79188452		2147	4256	6403	79407476	SO:0001583	missense	80144	exon9			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.847G>A	4.37:g.79188452G>A	ENSP00000326330:p.Gly283Arg	Somatic		Capture	Illumina HiSeq	Phase_I	79407476	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.00|12.00	1.805917|1.805917	0.31961|0.31961	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913|ENST00000508900	T;T;T|.	0.65178|.	-0.14;-0.14;-0.14|.	5.33|5.33	4.47|4.47	0.54385|0.54385	.|.	0.130077|.	0.50627|.	N|.	0.000109|.	T|T	0.62756|0.62756	0.2454|0.2454	L|L	0.53780|0.53780	1.695|1.695	0.48395|0.48395	D|D	0.999646|0.999646	P;P|.	0.41345|.	0.515;0.746|.	B;B|.	0.31290|.	0.117;0.127|.	T|T	0.60875|0.60875	-0.7176|-0.7176	10|5	0.07175|.	T|.	0.84|.	.|.	13.4108|13.4108	0.60942|0.60942	0.0766:0.0:0.9234:0.0|0.0766:0.0:0.9234:0.0	.|.	283;283|.	E9PHH6;A2RRR8|.	.;.|.	R|Q	283;283;283;23|125	ENSP00000326330:G283R;ENSP00000264895:G283R;ENSP00000264899:G283R|.	ENSP00000264895:G283R|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79407476|79407476	1.000000|1.000000	0.71417|0.71417	0.654000|0.654000	0.29608|0.29608	0.013000|0.013000	0.08279|0.08279	4.022000|4.022000	0.57203|0.57203	1.353000|1.353000	0.45828|0.45828	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.587	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
HELQ	113510	broad.mit.edu	37	4	84350892	84350892	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:84350892G>A	ENST00000295488.3	-	12	2465	c.2303C>T	c.(2302-2304)aCg>aTg	p.T768M	HELQ_ENST00000510985.1_Missense_Mutation_p.T701M	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	768					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.T768M(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATCAAGATTCGTTGCAATCTG	0.328								Other identified genes with known or suspected DNA repair function																													p.T768M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2303T	4						.						34.0	31.0	32.0					4																	84350892		2200	4298	6498	84569916	SO:0001583	missense	113510	exon12			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2303C>T	4.37:g.84350892G>A	ENSP00000295488:p.Thr768Met	Somatic		Capture	Illumina HiSeq	Phase_I	84569916	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556285	0.27827	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.45276	0.9;0.95	5.22	2.21	0.28008	.	0.562500	0.18452	N	0.140781	T	0.37972	0.1023	L	0.57536	1.79	0.20563	N	0.999884	D;P	0.63046	0.992;0.475	P;B	0.47603	0.551;0.069	T	0.26189	-1.0110	10	0.46703	T	0.11	-16.3146	2.9999	0.06010	0.0875:0.1915:0.2587:0.4623	.	701;768	E3W980;Q8TDG4	.;HELQ_HUMAN	M	768;701	ENSP00000295488:T768M;ENSP00000424539:T701M	ENSP00000295488:T768M	T	-	2	0	HELQ	84569916	0.921000	0.31238	0.976000	0.42696	0.447000	0.32167	0.637000	0.24659	1.158000	0.42547	0.467000	0.42956	ACG		0.328	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
PTPN13	5783	broad.mit.edu	37	4	87731071	87731071	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:87731071C>T	ENST00000411767.2	+	46	7296	c.7233C>T	c.(7231-7233)ggC>ggT	p.G2411G	PTPN13_ENST00000427191.2_Silent_p.G2392G|PTPN13_ENST00000511467.1_Silent_p.G2416G|PTPN13_ENST00000316707.6_Silent_p.G2220G|PTPN13_ENST00000436978.1_Silent_p.G2416G			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2411	Substrate binding. {ECO:0000250}.|Substrate.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.G2416G(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGTGCTGGCATTGGACGTT	0.443																																					p.G2220G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6660T	4						.						121.0	110.0	113.0					4																	87731071		1944	4148	6092	87950095	SO:0001819	synonymous_variant	5783	exon43				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7233C>T	4.37:g.87731071C>T		Somatic		Capture	Illumina HiSeq	Phase_I	87950095	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																				0.443	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
SPARCL1	8404	broad.mit.edu	37	4	88416148	88416148	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:88416148G>A	ENST00000282470.6	-	3	656	c.186C>T	c.(184-186)gaC>gaT	p.D62D	SPARCL1_ENST00000418378.1_Silent_p.D62D|SPARCL1_ENST00000503414.1_De_novo_Start_OutOfFrame	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	62					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.D62D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTGGGAATCGTCTTCTGTGG	0.358																																					p.D62D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C186T	4						.						124.0	132.0	129.0					4																	88416148		2203	4300	6503	88635172	SO:0001819	synonymous_variant	8404	exon4			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.186C>T	4.37:g.88416148G>A		Somatic		Capture	Illumina HiSeq	Phase_I	88635172	NM_001128310	B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	CCDS3622.1																																																																																				0.358	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		
COL25A1	84570	broad.mit.edu	37	4	109767322	109767322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:109767322delT	ENST00000399132.1	-	28	2018	c.1488delA	c.(1486-1488)aaafs	p.K496fs	COL25A1_ENST00000399127.1_Frame_Shift_Del_p.K469fs|COL25A1_ENST00000399126.1_Frame_Shift_Del_p.K496fs	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.G497fs*14(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAATTCCTCCTTTTTCACCTG	0.373																																					p.K496fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1488delA	4						.						131.0	124.0	126.0					4																	109767322		1834	4083	5917	109986771	SO:0001589	frameshift_variant	84570	exon27			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1488delA	4.37:g.109767322delT	ENSP00000382083:p.Lys496fs	Somatic		Capture	Illumina HiSeq	Phase_I	109986771	NM_198721		Frame_Shift_Del	DEL	ENST00000399132.1	37	CCDS43258.1																																																																																				0.373	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
KIAA1109	84162	broad.mit.edu	37	4	123283401	123283401	+	Stop_Codon_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:123283401delA	ENST00000264501.4	+	0	15390				KIAA1109_ENST00000388738.3_Stop_Codon_Del			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.*5006*(1)|p.*5006fs?(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAAGAACACTAAAAAAGTAAT	0.303																																					p.X5006X												.	.	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.15017delA	4						.						64.0	63.0	63.0					4																	123283401		1827	4074	5901	123502851	SO:0001567	stop_retained_variant	84162	exon84			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	Exception_encountered	4.37:g.123283401delA		Somatic		Capture	Illumina HiSeq	Phase_I	123502851	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Del	DEL	ENST00000264501.4	37	CCDS43267.1																																																																																				0.303	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
HELT	391723	broad.mit.edu	37	4	185941628	185941628	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr4:185941628A>T	ENST00000515777.1	+	4	519	c.431A>T	c.(430-432)gAt>gTt	p.D144V	HELT_ENST00000505610.1_Missense_Mutation_p.D143V|HELT_ENST00000338875.4_Missense_Mutation_p.D229V			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	144	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D229V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCGGAGCCGGATTTCTCCTAT	0.697																																					p.D229V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A686T	4						.						24.0	29.0	27.0					4																	185941628		2200	4298	6498	186178622	SO:0001583	missense	391723	exon4			BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.431A>T	4.37:g.185941628A>T	ENSP00000426033:p.Asp144Val	Somatic		Capture	Illumina HiSeq	Phase_I	186178622	NM_001029887	B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37		.	.	.	.	.	.	.	.	.	.	A	15.22	2.769769	0.49680	.	.	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;T	0.64260	-0.09;-0.08;1.9	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	L	0.32530	0.975	0.80722	D	1	D;P;D	0.69078	0.997;0.952;0.971	P;P;P	0.59115	0.852;0.521;0.714	T	0.62369	-0.6869	10	0.27785	T	0.31	.	14.6365	0.68694	1.0:0.0:0.0:0.0	.	229;144;143	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	V	143;144;229	ENSP00000422140:D143V;ENSP00000426033:D144V;ENSP00000343464:D229V	ENSP00000343464:D229V	D	+	2	0	HELT	186178622	1.000000	0.71417	0.999000	0.59377	0.190000	0.23558	8.751000	0.91628	1.860000	0.53959	0.459000	0.35465	GAT		0.697	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781	
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G	rs540141603	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:38407191_38407192insG	ENST00000354891.3	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)tggfs	p.W364fs	EGFLAM_ENST00000322350.5_Frame_Shift_Ins_p.W364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.W130fs|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545																																					p.W130fs	Colon(62;485 1295 3347 17454)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.388_389insG	5						.																																			38442949	SO:0001589	frameshift_variant	133584	exon3			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1097dupG	5.37:g.38407198_38407198dupG	ENSP00000346964:p.Trp364fs	Somatic		Capture	Illumina HiSeq	Phase_I	38442948	NM_182798	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Frame_Shift_Ins	INS	ENST00000354891.3	37	CCDS56363.1																																																																																				0.545	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
PPIP5K2	23262	broad.mit.edu	37	5	102469240	102469240	+	Silent	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:102469240G>C	ENST00000358359.3	+	3	707	c.198G>C	c.(196-198)cgG>cgC	p.R66R	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Silent_p.R66R|PPIP5K2_ENST00000414217.1_Silent_p.R66R	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	66					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.R66R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCTTGAACGGATCTCCTTAT	0.343																																					p.R66R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G198C	5						.						97.0	99.0	98.0					5																	102469240		2203	4300	6503	102497139	SO:0001819	synonymous_variant	23262	exon2			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.198G>C	5.37:g.102469240G>C		Somatic		Capture	Illumina HiSeq	Phase_I	102497139	NM_015216	A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37																																																																																					0.343	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	
MCC	4163	broad.mit.edu	37	5	112487064	112487064	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:112487064C>T	ENST00000302475.4	-	2	676	c.113G>A	c.(112-114)cGt>cAt	p.R38H	MCC_ENST00000515367.2_5'UTR|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.R228H	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	38					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R228H(2)|p.R38H(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTGCTGGAGACGTTTATTAAG	0.443																																					p.R228H												.	.	4	Substitution - Missense(4)	upper_aerodigestive_tract(2)|large_intestine(2)	c.G683A	5						.						110.0	99.0	102.0					5																	112487064		2202	4300	6502	112514963	SO:0001583	missense	4163	exon4				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.113G>A	5.37:g.112487064C>T	ENSP00000305617:p.Arg38His	Somatic		Capture	Illumina HiSeq	Phase_I	112514963	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195579	0.94960	.	.	ENSG00000171444	ENST00000302475;ENST00000408903	T;T	0.81415	-1.49;0.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	L	0.36672	1.1	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.80764	0.964;0.994;0.964	D	0.86768	0.1971	10	0.66056	D	0.02	-10.461	19.0399	0.92993	0.0:1.0:0.0:0.0	.	38;228;38	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	H	38;228	ENSP00000305617:R38H;ENSP00000386227:R228H	ENSP00000305617:R38H	R	-	2	0	MCC	112514963	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.845000	0.69437	2.739000	0.93911	0.561000	0.74099	CGT		0.443	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
COMMD10	51397	broad.mit.edu	37	5	115627273	115627273	+	Splice_Site	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:115627273G>T	ENST00000274458.4	+	6	632	c.570G>T	c.(568-570)aaG>aaT	p.K190N	COMMD10_ENST00000515539.1_Splice_Site_p.K176N	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	190	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.K190N(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TCTATAACAAGGTCTGTATTT	0.274																																					p.K190N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G570T	5						.						85.0	83.0	84.0					5																	115627273		2201	4300	6501	115655172	SO:0001630	splice_region_variant	51397	exon6			AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.570+1G>T	5.37:g.115627273G>T		Somatic		Capture	Illumina HiSeq	Phase_I	115655172	NM_016144	D3DT07|Q9P077	Missense_Mutation	SNP	ENST00000274458.4	37	CCDS34215.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936992	0.34189	.	.	ENSG00000145781	ENST00000274458;ENST00000515539;ENST00000506589	T;T;T	0.51071	2.92;2.92;0.72	5.05	5.05	0.67936	COMM domain (1);	0.292382	0.37393	N	0.002120	T	0.43389	0.1245	L	0.38838	1.175	0.80722	D	1	B	0.24768	0.111	B	0.27380	0.079	T	0.29088	-1.0023	10	0.42905	T	0.14	-11.6759	18.9644	0.92689	0.0:0.0:1.0:0.0	.	190	Q9Y6G5	COMDA_HUMAN	N	190;176;109	ENSP00000274458:K190N;ENSP00000427319:K176N;ENSP00000424611:K109N	ENSP00000274458:K190N	K	+	3	2	COMMD10	115655172	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	7.406000	0.80017	2.763000	0.94921	0.650000	0.86243	AAG		0.274	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144	Missense_Mutation
KIF20A	10112	broad.mit.edu	37	5	137522852	137522852	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:137522852C>T	ENST00000394894.3	+	19	2649	c.2423C>T	c.(2422-2424)gCa>gTa	p.A808V	KIF20A_ENST00000508792.1_Missense_Mutation_p.A790V	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	808	Globular. {ECO:0000255}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.A808V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGAAGGCAGCATGTATTGCT	0.448																																					p.A808V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2423T	5						.						81.0	76.0	77.0					5																	137522852		2203	4300	6503	137550751	SO:0001583	missense	10112	exon19			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.2423C>T	5.37:g.137522852C>T	ENSP00000378356:p.Ala808Val	Somatic		Capture	Illumina HiSeq	Phase_I	137550751	NM_005733	B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769270	0.31320	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.70399	-0.43;-0.48	5.01	5.01	0.66863	.	0.165228	0.28612	N	0.014732	T	0.55641	0.1933	L	0.27053	0.805	0.31225	N	0.696966	B;B	0.22276	0.067;0.003	B;B	0.12837	0.008;0.002	T	0.54860	-0.8230	10	0.27082	T	0.32	-4.611	12.2377	0.54524	0.0:0.9223:0.0:0.0777	.	790;808	B4DL79;O95235	.;KI20A_HUMAN	V	808;790	ENSP00000378356:A808V;ENSP00000420880:A790V	ENSP00000378356:A808V	A	+	2	0	KIF20A	137550751	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	4.391000	0.59652	2.763000	0.94921	0.563000	0.77884	GCA		0.448	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733	
TMCO6	55374	broad.mit.edu	37	5	140022607	140022607	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:140022607C>T	ENST00000394671.3	+	7	888	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	TMCO6_ENST00000537378.1_Missense_Mutation_p.L23F|TMCO6_ENST00000252100.6_Missense_Mutation_p.L269F|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	263					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.L263F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTGGTGCCTTCATTACAT	0.522																																					p.L263F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C787T	5						.						88.0	87.0	87.0					5																	140022607		1974	4150	6124	140002791	SO:0001583	missense	55374	exon7			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.787C>T	5.37:g.140022607C>T	ENSP00000378166:p.Leu263Phe	Somatic		Capture	Illumina HiSeq	Phase_I	140002791	NM_018502	Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136090	0.77662	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.67345	0.49;-0.26;0.49	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	L	0.34521	1.04	0.50039	D	0.999844	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77512	-0.2560	10	0.72032	D	0.01	-8.9222	18.6616	0.91473	0.0:1.0:0.0:0.0	.	269;263	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	F	263;23;269	ENSP00000378166:L263F;ENSP00000444474:L23F;ENSP00000252100:L269F	ENSP00000252100:L269F	L	+	1	0	TMCO6	140002791	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.911000	0.56378	2.753000	0.94483	0.555000	0.69702	CTT		0.522	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502	
PCDHA2	56146	broad.mit.edu	37	5	140175117	140175117	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:140175117G>A	ENST00000526136.1	+	1	568	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PCDHA2_ENST00000520672.2_Missense_Mutation_p.E190K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E190K	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E190K(4)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACTAAGCGAATCTTTGTC	0.458																																					p.E190K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G568A	5						.						96.0	103.0	100.0					5																	140175117		2203	4300	6503	140155301	SO:0001583	missense	56146	exon1			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.568G>A	5.37:g.140175117G>A	ENSP00000431748:p.Glu190Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140155301	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.345388	0.00222	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.19669	2.13;2.13;2.13	3.87	-0.573	0.11742	Cadherin (4);Cadherin-like (1);	1.785050	0.04145	U	0.320225	T	0.01940	0.0061	N	0.00004	-3.325	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.12837	0.001;0.008;0.001	T	0.51012	-0.8759	10	0.02654	T	1	.	2.703	0.05154	0.4567:0.2339:0.2208:0.0886	.	190;190;190	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	190	ENSP00000430584:E190K;ENSP00000367372:E190K;ENSP00000431748:E190K	ENSP00000367372:E190K	E	+	1	0	PCDHA2	140155301	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.760000	0.04756	0.058000	0.16222	-0.153000	0.13522	GAA		0.458	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA9	9752	broad.mit.edu	37	5	140228225	140228225	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:140228225G>A	ENST00000532602.1	+	1	1178	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A49T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	49	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)	p.A49T(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCGCAGGACCT	0.652																																					p.A49T	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G145A	5						.						52.0	57.0	55.0					5																	140228225		2196	4266	6462	140208409	SO:0001583	missense	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.145G>A	5.37:g.140228225G>A	ENSP00000436042:p.Ala49Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140208409	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838814	0.91117	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.55413	0.52;0.52	3.69	3.69	0.42338	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.77850	0.4192	M	0.91196	3.185	0.34110	D	0.662905	D;D	0.89917	1.0;1.0	D;D	0.91635	0.933;0.999	D	0.87393	0.2364	9	0.62326	D	0.03	.	16.0581	0.80820	0.0:0.0:1.0:0.0	.	49;49	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	T	49	ENSP00000436042:A49T;ENSP00000367362:A49T	ENSP00000367362:A49T	A	+	1	0	PCDHA9	140208409	0.980000	0.34600	0.998000	0.56505	0.904000	0.53231	5.191000	0.65110	2.047000	0.60756	0.586000	0.80456	GCG		0.652	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA10	56139	broad.mit.edu	37	5	140236909	140236909	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:140236909G>A	ENST00000307360.5	+	1	1276	c.1276G>A	c.(1276-1278)Gcg>Acg	p.A426T	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A426T|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A426T(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCGCGGGACGG	0.647																																					p.A426T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1276A	5						.						110.0	105.0	107.0					5																	140236909		2197	4274	6471	140217093	SO:0001583	missense	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1276G>A	5.37:g.140236909G>A	ENSP00000304234:p.Ala426Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140217093	NM_031860	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365117	0.41902	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.36878	1.23;1.23	3.96	3.08	0.35506	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.70962	0.3284	H	0.97077	3.935	0.38895	D	0.957204	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.918;0.957;0.995	T	0.82904	-0.0226	9	0.87932	D	0	.	13.9605	0.64175	0.0:0.1531:0.8469:0.0	.	426;426;426	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	426	ENSP00000421030:A426T;ENSP00000304234:A426T	ENSP00000304234:A426T	A	+	1	0	PCDHA10	140217093	1.000000	0.71417	0.033000	0.17914	0.025000	0.11179	6.141000	0.71744	0.992000	0.38840	0.556000	0.70494	GCG		0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHB2	56133	broad.mit.edu	37	5	140475515	140475515	+	Missense_Mutation	SNP	G	G	A	rs569244465		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:140475515G>A	ENST00000194155.4	+	1	1289	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	381	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G381R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGACAACGGAAGGATGGT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19843	0.0		0.0	False		,,,				2504	0.0				p.G381R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1141A	5						.						83.0	75.0	77.0					5																	140475515		2203	4300	6503	140455699	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1141G>A	5.37:g.140475515G>A	ENSP00000194155:p.Gly381Arg	Somatic		Capture	Illumina HiSeq	Phase_I	140455699	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686532	0.47991	.	.	ENSG00000112852	ENST00000194155	T	0.43688	0.94	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72811	0.3507	M	0.91406	3.205	0.47737	D	0.999502	D	0.89917	1.0	D	0.76071	0.987	T	0.79940	-0.1591	9	0.87932	D	0	.	18.6117	0.91288	0.0:0.0:1.0:0.0	.	381	Q9Y5E7	PCDB2_HUMAN	R	381	ENSP00000194155:G381R	ENSP00000194155:G381R	G	+	1	0	PCDHB2	140455699	1.000000	0.71417	0.998000	0.56505	0.246000	0.25737	5.534000	0.67167	2.546000	0.85860	0.655000	0.94253	GGA		0.468	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHGA1	56114	broad.mit.edu	37	5	140711458	140711458	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:140711458C>T	ENST00000517417.1	+	1	1207	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R403C	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	403	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)	p.R403C(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATTATTACCGTTTAGTGAC	0.398																																					p.R403C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1207T	5						.						74.0	72.0	73.0					5																	140711458		2203	4300	6503	140691642	SO:0001583	missense	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1207C>T	5.37:g.140711458C>T	ENSP00000431083:p.Arg403Cys	Somatic		Capture	Illumina HiSeq	Phase_I	140691642	NM_031993	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	10.00	1.233128	0.22626	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01787	4.64;4.64	3.85	1.97	0.26223	Cadherin (4);Cadherin-like (1);	0.789993	0.10576	U	0.658525	T	0.03390	0.0098	M	0.79926	2.475	0.09310	N	1	B;B	0.32893	0.133;0.389	B;B	0.30646	0.073;0.118	T	0.30090	-0.9990	10	0.87932	D	0	.	6.4861	0.22089	0.3189:0.5898:0.0:0.0913	.	403;403	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	C	403	ENSP00000431083:R403C;ENSP00000367345:R403C	ENSP00000367345:R403C	R	+	1	0	PCDHGA1	140691642	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	-0.112000	0.10791	0.925000	0.37094	0.650000	0.86243	CGT		0.398	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA5	56110	broad.mit.edu	37	5	140744334	140744334	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:140744334C>T	ENST00000518069.1	+	1	437	c.437C>T	c.(436-438)gCg>gTg	p.A146V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	146	Cadherin 2. {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)	p.A146V(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGAAAATGCGGCTGCAGGG	0.443																																					p.A146V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C437T	5						.						35.0	37.0	36.0					5																	140744334		1958	4153	6111	140724518	SO:0001583	missense	56110	exon1			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.437C>T	5.37:g.140744334C>T	ENSP00000429834:p.Ala146Val	Somatic		Capture	Illumina HiSeq	Phase_I	140724518	NM_032054	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.434592	0.25813	.	.	ENSG00000253485	ENST00000518069	T	0.55588	0.51	5.42	5.42	0.78866	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.52789	0.1756	L	0.48986	1.54	0.32280	N	0.567715	B;B	0.32071	0.305;0.355	B;B	0.33568	0.103;0.166	T	0.60811	-0.7189	9	0.44086	T	0.13	.	19.1867	0.93647	0.0:1.0:0.0:0.0	.	146;146	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	146	ENSP00000429834:A146V	ENSP00000429834:A146V	A	+	2	0	PCDHGA5	140724518	0.016000	0.18221	0.923000	0.36655	0.074000	0.17049	2.730000	0.47335	2.699000	0.92147	0.563000	0.77884	GCG		0.443	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDH12	51294	broad.mit.edu	37	5	141335264	141335264	+	Missense_Mutation	SNP	G	G	A	rs147575499		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:141335264G>A	ENST00000231484.3	-	1	3363	c.2153C>T	c.(2152-2154)aCg>aTg	p.T718M	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	718					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T718M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGATCACCGTCAGCATCGA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		19970	0.0		0.0	False		,,,				2504	0.001				p.T718M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2153T	5						.	G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	62.0	51.0	55.0		2153	2.7	0.3	5	dbSNP_134	55	0,8600		0,0,4300	yes	missense	PCDH12	NM_016580.2	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	718/1185	141335264	3,13003	2203	4300	6503	141315448	SO:0001583	missense	51294	exon1			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2153C>T	5.37:g.141335264G>A	ENSP00000231484:p.Thr718Met	Somatic		Capture	Illumina HiSeq	Phase_I	141315448	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	0.703	-0.790055	0.02884	6.81E-4	0.0	ENSG00000113555	ENST00000231484	T	0.54071	0.59	5.38	2.7	0.31948	.	0.525769	0.22027	N	0.065647	T	0.33644	0.0870	N	0.20685	0.6	0.09310	N	0.999991	B	0.13594	0.008	B	0.04013	0.001	T	0.21552	-1.0242	10	0.52906	T	0.07	.	7.1686	0.25706	0.3401:0.0:0.6599:0.0	.	718	Q9NPG4	PCD12_HUMAN	M	718	ENSP00000231484:T718M	ENSP00000231484:T718M	T	-	2	0	PCDH12	141315448	0.061000	0.20836	0.287000	0.24848	0.016000	0.09150	1.404000	0.34623	0.433000	0.26313	-0.137000	0.14449	ACG		0.562	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
PCDH12	51294	broad.mit.edu	37	5	141336615	141336615	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:141336615C>T	ENST00000231484.3	-	1	2012	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A268T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTGTGGCGGTCAGTTTT	0.527																																					p.A268T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	5						.						97.0	95.0	96.0					5																	141336615		2203	4300	6503	141316799	SO:0001583	missense	51294	exon1			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.802G>A	5.37:g.141336615C>T	ENSP00000231484:p.Ala268Thr	Somatic		Capture	Illumina HiSeq	Phase_I	141316799	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727645	0.89390	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.32	5.32	0.75619	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.82190	0.4983	M	0.93283	3.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86437	0.1764	10	0.87932	D	0	.	16.5409	0.84384	0.0:1.0:0.0:0.0	.	268	Q9NPG4	PCD12_HUMAN	T	268	ENSP00000231484:A268T	ENSP00000231484:A268T	A	-	1	0	PCDH12	141316799	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	7.651000	0.83577	2.767000	0.95098	0.655000	0.94253	GCC		0.527	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
SH3TC2	79628	broad.mit.edu	37	5	148386608	148386608	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:148386608G>A	ENST00000515425.1	-	16	3612	c.3511C>T	c.(3511-3513)Cgc>Tgc	p.R1171C	SH3TC2_ENST00000502274.1_Missense_Mutation_p.R33C|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R1164C|SH3TC2_ENST00000538184.1_Missense_Mutation_p.P715L	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1171					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.R1171C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGCCAGGCGGTGAAAGGCC	0.502																																					p.R1171C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3511T	5						.						115.0	113.0	114.0					5																	148386608		2203	4300	6503	148366801	SO:0001583	missense	79628	exon16			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3511C>T	5.37:g.148386608G>A	ENSP00000423660:p.Arg1171Cys	Somatic		Capture	Illumina HiSeq	Phase_I	148366801	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.453411|5.453411	0.96223|0.96223	.|.	.|.	ENSG00000169247|ENSG00000169247	ENST00000538184|ENST00000502274;ENST00000515425;ENST00000512049	T|T;T;T	0.81415|0.66460	-1.49|0.12;-0.21;-0.21	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80793|0.80793	0.4691|0.4691	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;1.0	T|T	0.80025|0.80025	-0.1555|-0.1555	7|10	0.87932|0.87932	D|D	0|0	-15.4916|-15.4916	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1164;1171;1171	.|Q14CC0;E9PDF1;Q8TF17	.|.;.;S3TC2_HUMAN	L|C	715|33;1171;1164	ENSP00000441427:P715L|ENSP00000421092:R33C;ENSP00000423660:R1171C;ENSP00000421860:R1164C	ENSP00000441427:P715L|ENSP00000421092:R33C	P|R	-|-	2|1	0|0	SH3TC2|SH3TC2	148366801|148366801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.387000|9.387000	0.97232|0.97232	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.502	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
PDGFRB	5159	broad.mit.edu	37	5	149515341	149515341	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:149515341G>A	ENST00000261799.4	-	3	610	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	47	Ig-like C2-type 1.				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.S47S(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)	CGAAGGTGCTGGAGACATTGA	0.612			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.S47S			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C141T	5						.						44.0	40.0	41.0					5																	149515341		2203	4300	6503	149495534	SO:0001819	synonymous_variant	5159	exon3			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.141C>T	5.37:g.149515341G>A		Somatic		Capture	Illumina HiSeq	Phase_I	149495534	NM_002609	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
GALNT10	55568	broad.mit.edu	37	5	153674472	153674472	+	Missense_Mutation	SNP	C	C	T	rs146720050		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:153674472C>T	ENST00000297107.6	+	2	393	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	GALNT10_ENST00000377661.2_Missense_Mutation_p.R86C|GALNT10_ENST00000425427.2_Missense_Mutation_p.R86C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	86					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R86C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGACGCTCAGCGCGTAGGTAC	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19523	0.0		0.0	False		,,,				2504	0.0				p.R86C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C256T	5						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	79.0	82.0		256	5.5	1.0	5	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GALNT10	NM_198321.3	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	86/604	153674472	2,13004	2203	4300	6503	153654665	SO:0001583	missense	55568	exon2			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.256C>T	5.37:g.153674472C>T	ENSP00000297107:p.Arg86Cys	Somatic		Capture	Illumina HiSeq	Phase_I	153654665	NM_198321	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496615	0.44352	2.27E-4	1.16E-4	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59083	0.5;0.29;0.32	5.52	5.52	0.82312	.	0.393945	0.26859	N	0.022133	T	0.80380	0.4612	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.949;0.976	D	0.83412	0.0028	10	0.72032	D	0.01	.	17.9765	0.89129	0.0:1.0:0.0:0.0	.	86;86	Q86SR1;Q86SR1-3	GLT10_HUMAN;.	C	86	ENSP00000415210:R86C;ENSP00000297107:R86C;ENSP00000366889:R86C	ENSP00000297107:R86C	R	+	1	0	GALNT10	153654665	1.000000	0.71417	0.997000	0.53966	0.091000	0.18340	3.315000	0.51951	2.756000	0.94617	0.561000	0.74099	CGC		0.537	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321	
SLIT3	6586	broad.mit.edu	37	5	168620553	168620553	+	Splice_Site	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:168620553G>A	ENST00000519560.1	-	4	762	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	SLIT3_ENST00000404867.3_Splice_Site_p.R115C|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Splice_Site_p.R115C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	115					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R115C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTTCAGGCGCCTAAAGAGG	0.438																																					p.R115C	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C343T	5						.						115.0	109.0	111.0					5																	168620553		2203	4300	6503	168553131	SO:0001630	splice_region_variant	6586	exon4			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.342-1C>T	5.37:g.168620553G>A		Somatic		Capture	Illumina HiSeq	Phase_I	168553131	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416299	0.83449	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.25085	1.82;1.82;1.82	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000002	T	0.47116	0.1428	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.39078	-0.9631	10	0.87932	D	0	.	17.0755	0.86585	0.0:0.0:1.0:0.0	.	115;115	O75094-2;O75094	.;SLIT3_HUMAN	C	115	ENSP00000430333:R115C;ENSP00000332164:R115C;ENSP00000384890:R115C	ENSP00000332164:R115C	R	-	1	0	SLIT3	168553131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.347000	0.73004	2.705000	0.92388	0.655000	0.94253	CGC		0.438	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Missense_Mutation
TLX3	30012	broad.mit.edu	37	5	170737326	170737326	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:170737326G>A	ENST00000296921.5	+	2	676	c.594G>A	c.(592-594)gcG>gcA	p.A198A		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	198					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A198A(1)		central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAGGGCGGCGCTCGCCAAGT	0.622			T	BCL11B	T-ALL																																p.A198A	Esophageal Squamous(33;43 807 3116 3348 30094)		Dom	yes		5	5q35.1	30012	"""T-cell leukemia, homeobox 3 (HOX11L2)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G594A	5						.						29.0	28.0	29.0					5																	170737326		2202	4300	6502	170669931	SO:0001819	synonymous_variant	30012	exon2			AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.594G>A	5.37:g.170737326G>A		Somatic		Capture	Illumina HiSeq	Phase_I	170669931	NM_021025	Q96AD3	Silent	SNP	ENST00000296921.5	37	CCDS34288.1																																																																																				0.622	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3		
HRH2	3274	broad.mit.edu	37	5	175110591	175110591	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:175110591G>A	ENST00000231683.2	+	1	2128	c.355G>A	c.(355-357)Gct>Act	p.A119T	HRH2_ENST00000377291.2_Missense_Mutation_p.A119T	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	119					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.A119T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CCGGTACTGCGCTGTCATGGA	0.532																																					p.A119T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	5						.						129.0	108.0	115.0					5																	175110591		2203	4300	6503	175043197	SO:0001583	missense	3274	exon1				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.355G>A	5.37:g.175110591G>A	ENSP00000231683:p.Ala119Thr	Somatic		Capture	Illumina HiSeq	Phase_I	175043197	NM_022304	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370133	0.95900	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.53423	0.62;0.62	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76392	0.3981	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	T	0.82010	-0.0669	10	0.87932	D	0	.	18.2999	0.90160	0.0:0.0:1.0:0.0	.	119;119	P25021;Q7Z5R9	HRH2_HUMAN;.	T	119	ENSP00000366506:A119T;ENSP00000231683:A119T	ENSP00000231683:A119T	A	+	1	0	HRH2	175043197	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.869000	0.99810	2.579000	0.87056	0.462000	0.41574	GCT		0.532	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1		
FGFR4	2264	broad.mit.edu	37	5	176523076	176523076	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:176523076G>T	ENST00000292408.4	+	14	2085	c.1840G>T	c.(1840-1842)Gct>Tct	p.A614S	FGFR4_ENST00000292410.3_Missense_Mutation_p.A574S|FGFR4_ENST00000393648.2_Missense_Mutation_p.A546S|FGFR4_ENST00000502906.1_Missense_Mutation_p.A614S|FGFR4_ENST00000393637.1_Missense_Mutation_p.A574S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|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 tyrosine kinase activity (GO:0004713)	p.A574S(1)|p.A614S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	CCGGGACCTGGCTGCCCGCAA	0.617										TSP Lung(9;0.080)																											p.A614S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1840T	5						.						45.0	42.0	43.0					5																	176523076		2203	4300	6503	176455682	SO:0001583	missense	2264	exon14			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1840G>T	5.37:g.176523076G>T	ENSP00000292408:p.Ala614Ser	Somatic		Capture	Illumina HiSeq	Phase_I	176455682	NM_213647	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.157297|5.157297	0.94686|0.94686	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076	D;D;D;D;D|.	0.91577|.	-2.87;-2.87;-2.87;-2.87;-2.87|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77638|0.77638	0.4160|0.4160	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.91635|.	0.998;0.996;0.999|.	T|T	0.79838|0.79838	-0.1634|-0.1634	10|5	0.87932|.	D|.	0|.	.|.	17.1837|17.1837	0.86861|0.86861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	546;574;614|.	B4DVP5;P22455-2;P22455|.	.;.;FGFR4_HUMAN|.	S|V	614;546;614;574;574;842|245	ENSP00000292408:A614S;ENSP00000377259:A546S;ENSP00000424960:A614S;ENSP00000292410:A574S;ENSP00000377254:A574S|.	ENSP00000292408:A614S|.	A|G	+|+	1|2	0|0	FGFR4|FGFR4	176455682|176455682	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	2.146000|2.146000	0.66826|0.66826	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.617	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1		
ZNF354A	6940	broad.mit.edu	37	5	178139392	178139392	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:178139392C>T	ENST00000335815.2	-	5	1684	c.1487G>A	c.(1486-1488)tGt>tAt	p.C496Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	496					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C496Y(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		ACACTCGTTACATTTATAGGG	0.388																																					p.C496Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1487A	5						.						122.0	118.0	120.0					5																	178139392		2203	4300	6503	178071998	SO:0001583	missense	6940	exon5			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1487G>A	5.37:g.178139392C>T	ENSP00000337122:p.Cys496Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	178071998	NM_005649	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944219	0.53079	.	.	ENSG00000169131	ENST00000335815	D	0.85088	-1.94	5.26	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35585	N	0.003108	D	0.94637	0.8271	H	0.97023	3.925	0.44719	D	0.997711	D	0.89917	1.0	D	0.97110	1.0	D	0.95802	0.8834	10	0.87932	D	0	-8.8389	12.9593	0.58449	0.1632:0.8368:0.0:0.0	.	496	O60765	Z354A_HUMAN	Y	496	ENSP00000337122:C496Y	ENSP00000337122:C496Y	C	-	2	0	ZNF354A	178071998	1.000000	0.71417	0.726000	0.30738	0.751000	0.42716	7.013000	0.76373	1.427000	0.47276	0.650000	0.86243	TGT		0.388	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649	
CDH10	1008	broad.mit.edu	37	5	24487833	24487833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:24487833delC	ENST00000264463.4	-	12	2813	c.2306delG	c.(2305-2307)ggcfs	p.G769fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	769					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G769fs*7(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAACCGAGGGCCCCATTCTCG	0.403										HNSCC(23;0.051)																											p.G769fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2306delG	5						.						165.0	166.0	166.0					5																	24487833		2203	4300	6503	24523590	SO:0001589	frameshift_variant	1008	exon12			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2306delG	5.37:g.24487833delC	ENSP00000264463:p.Gly769fs	Somatic		Capture	Illumina HiSeq	Phase_I	24523590	NM_006727	Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	CCDS3892.1																																																																																				0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH6	1004	broad.mit.edu	37	5	31313516	31313516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:31313516G>T	ENST00000265071.2	+	8	1610	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.E394*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E449*(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTTGACCGAGAAACACTGCT	0.413																																					p.E449X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1345T	5						.						181.0	162.0	168.0					5																	31313516		2203	4300	6503	31349273	SO:0001587	stop_gained	1004	exon8			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1345G>T	5.37:g.31313516G>T	ENSP00000265071:p.Glu449*	Somatic		Capture	Illumina HiSeq	Phase_I	31349273	NM_004932	A8K5H5|Q9BWS0	Nonsense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	42	9.194539	0.99096	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9755	0.92735	0.0:0.0:1.0:0.0	.	.	.	.	X	394;449	.	ENSP00000265071:E449X	E	+	1	0	CDH6	31349273	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.869000	0.99810	2.467000	0.83353	0.655000	0.94253	GAA		0.413	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	
PDZD2	23037	broad.mit.edu	37	5	32090564	32090564	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:32090564A>G	ENST00000438447.1	+	20	7398	c.7010A>G	c.(7009-7011)cAg>cGg	p.Q2337R	PDZD2_ENST00000282493.3_Missense_Mutation_p.Q2337R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2337					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Q2337R(1)		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						TCTGTGAAGCAGCGGATCAAG	0.522																																					p.Q2337R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7010G	5						.						60.0	59.0	59.0					5																	32090564		2203	4300	6503	32126321	SO:0001583	missense	23037	exon19			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.7010A>G	5.37:g.32090564A>G	ENSP00000402033:p.Gln2337Arg	Somatic		Capture	Illumina HiSeq	Phase_I	32126321	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258302	0.80246	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.13196	2.61;2.61	5.15	5.15	0.70609	.	0.000000	0.48767	D	0.000171	T	0.35307	0.0927	M	0.71581	2.175	0.39125	D	0.961748	D	0.69078	0.997	D	0.75484	0.986	T	0.18650	-1.0330	10	0.52906	T	0.07	.	12.9302	0.58282	1.0:0.0:0.0:0.0	.	2337	O15018	PDZD2_HUMAN	R	2337;2138;2337	ENSP00000402033:Q2337R;ENSP00000282493:Q2337R	ENSP00000282493:Q2337R	Q	+	2	0	PDZD2	32126321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.185000	0.89704	1.930000	0.55929	0.459000	0.35465	CAG		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
RXFP3	51289	broad.mit.edu	37	5	33937434	33937434	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:33937434G>A	ENST00000330120.3	+	1	944	c.589G>A	c.(589-591)Ggc>Agc	p.G197S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	197					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.G197S(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCGAGGACACGGCCGGGGCGA	0.662																																					p.G197S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589A	5						.						39.0	41.0	40.0					5																	33937434		2203	4300	6503	33973191	SO:0001583	missense	51289	exon1			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.589G>A	5.37:g.33937434G>A	ENSP00000328708:p.Gly197Ser	Somatic		Capture	Illumina HiSeq	Phase_I	33973191	NM_016568	Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	5.819	0.335436	0.11013	.	.	ENSG00000182631	ENST00000330120	T	0.36157	1.27	5.44	0.142	0.14816	GPCR, rhodopsin-like superfamily (1);	1.281880	0.05647	N	0.584519	T	0.17238	0.0414	N	0.11106	0.095	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.22138	-1.0225	10	0.07325	T	0.83	-3.1866	5.8818	0.18860	0.4108:0.1541:0.4351:0.0	.	197	Q9NSD7	RL3R1_HUMAN	S	197	ENSP00000328708:G197S	ENSP00000328708:G197S	G	+	1	0	RXFP3	33973191	0.000000	0.05858	0.207000	0.23584	0.126000	0.20510	-0.751000	0.04803	-0.329000	0.08527	0.655000	0.94253	GGC		0.662	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568	
C6	729	broad.mit.edu	37	5	41149516	41149516	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:41149516T>G	ENST00000263413.3	-	17	2714	c.2450A>C	c.(2449-2451)aAg>aCg	p.K817T	C6_ENST00000337836.5_Missense_Mutation_p.K817T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	817	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.K817R(1)|p.K817T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGCCAAAAACTTACAAGCGGG	0.423																																					p.K817T												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.A2450C	5						.						126.0	134.0	131.0					5																	41149516		2203	4300	6503	41185273	SO:0001583	missense	729	exon17			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2450A>C	5.37:g.41149516T>G	ENSP00000263413:p.Lys817Thr	Somatic		Capture	Illumina HiSeq	Phase_I	41185273	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	7.290	0.610941	0.14066	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.04360	3.64;3.64	5.97	3.47	0.39725	Proteinase inhibitor I1, Kazal (1);Factor I / membrane attack complex (1);Protease inhibitor, Kazal-type (1);	0.511596	0.22714	N	0.056534	T	0.07548	0.0190	M	0.72894	2.215	0.19300	N	0.999979	B	0.23990	0.095	B	0.20955	0.032	T	0.18745	-1.0327	10	0.54805	T	0.06	-3.3395	9.2544	0.37575	0.1224:0.0:0.1285:0.7492	.	817	P13671	CO6_HUMAN	T	817	ENSP00000338861:K817T;ENSP00000263413:K817T	ENSP00000263413:K817T	K	-	2	0	C6	41185273	0.987000	0.35691	0.202000	0.23494	0.238000	0.25445	1.215000	0.32431	0.445000	0.26639	0.533000	0.62120	AAG		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
ACTBL2	345651	broad.mit.edu	37	5	56777787	56777787	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:56777787T>C	ENST00000423391.1	-	1	849	c.748A>G	c.(748-750)Acc>Gcc	p.T250A	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	250						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T250A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTCCCAATGGTGATCACCTGC	0.542																																					p.T250A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A748G	5						.						96.0	86.0	89.0					5																	56777787		2203	4300	6503	56813544	SO:0001583	missense	345651	exon1				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.748A>G	5.37:g.56777787T>C	ENSP00000416706:p.Thr250Ala	Somatic		Capture	Illumina HiSeq	Phase_I	56813544	NM_001017992	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280082	0.40294	.	.	ENSG00000169067	ENST00000423391	T	0.09073	3.02	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000007	T	0.20251	0.0487	M	0.88704	2.975	0.43152	D	0.994925	B	0.13145	0.007	B	0.32342	0.144	T	0.03981	-1.0987	10	0.87932	D	0	.	12.5346	0.56135	0.0:0.0:0.0:1.0	.	250	Q562R1	ACTBL_HUMAN	A	250	ENSP00000416706:T250A	ENSP00000416706:T250A	T	-	1	0	ACTBL2	56813544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.123000	0.71614	2.057000	0.61298	0.533000	0.62120	ACC		0.542	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
TNPO1	3842	broad.mit.edu	37	5	72199545	72199545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:72199545delT	ENST00000337273.5	+	23	2950	c.2524delT	c.(2524-2526)tttfs	p.F843fs	TNPO1_ENST00000523768.1_Frame_Shift_Del_p.F793fs|TNPO1_ENST00000454282.1_Frame_Shift_Del_p.F793fs|TNPO1_ENST00000506351.2_Frame_Shift_Del_p.F835fs	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	843					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.C836fs*45(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GGATTTTATATTTTTTTGTGA	0.318																																					p.F834fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2500delT	5						.						143.0	142.0	142.0					5																	72199545		2203	4300	6503	72235301	SO:0001589	frameshift_variant	3842	exon23			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2524delT	5.37:g.72199545delT	ENSP00000336712:p.Phe843fs	Somatic		Capture	Illumina HiSeq	Phase_I	72235301	NM_153188	B4DVC6|Q92957|Q92975	Frame_Shift_Del	DEL	ENST00000337273.5	37	CCDS43329.1																																																																																				0.318	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
GFM2	84340	broad.mit.edu	37	5	74026212	74026212	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:74026212A>G	ENST00000296805.3	-	17	2056	c.1599T>C	c.(1597-1599)tgT>tgC	p.C533C	GFM2_ENST00000345239.2_Silent_p.C486C|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Silent_p.C533C	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.C533C(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CCCCCATACCACACAGAACAG	0.368																																					p.C533C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1599C	5						.						94.0	88.0	90.0					5																	74026212		2203	4300	6503	74061968	SO:0001819	synonymous_variant	84340	exon17			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1599T>C	5.37:g.74026212A>G		Somatic		Capture	Illumina HiSeq	Phase_I	74061968	NM_032380		Silent	SNP	ENST00000296805.3	37	CCDS4023.1																																																																																				0.368	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
CKMT2	1160	broad.mit.edu	37	5	80548572	80548572	+	Missense_Mutation	SNP	G	G	A	rs548849398		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:80548572G>A	ENST00000424301.2	+	4	449	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	CKMT2_ENST00000254035.4_Missense_Mutation_p.A71T|CKMT2_ENST00000437669.1_Missense_Mutation_p.A71T|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	71	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.A71T(2)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCTCACCCCCGCCATTTATGC	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19702	0.0		0.0	False		,,,				2504	0.0				p.A71T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G211A	5						.						110.0	94.0	100.0					5																	80548572		2203	4300	6503	80584328	SO:0001583	missense	1160	exon4				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.211G>A	5.37:g.80548572G>A	ENSP00000404203:p.Ala71Thr	Somatic		Capture	Illumina HiSeq	Phase_I	80584328	NM_001825	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892821	0.52121	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	6.04	-3.38	0.04883	ATP:guanido phosphotransferase, N-terminal (4);	0.348813	0.34435	N	0.003966	T	0.49457	0.1558	L	0.52364	1.645	0.31991	N	0.604641	B	0.18863	0.031	B	0.14023	0.01	T	0.29610	-1.0006	10	0.62326	D	0.03	-0.2323	9.9591	0.41686	0.074:0.0:0.3595:0.5666	.	71	P17540	KCRS_HUMAN	T	71	ENSP00000254035:A71T;ENSP00000423264:A71T;ENSP00000410289:A71T;ENSP00000404203:A71T;ENSP00000427635:A71T	ENSP00000254035:A71T	A	+	1	0	CKMT2	80584328	0.801000	0.28930	0.002000	0.10522	0.949000	0.60115	1.225000	0.32551	-1.158000	0.02811	0.561000	0.74099	GCC		0.612	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825	
ACOT12	134526	broad.mit.edu	37	5	80655733	80655733	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:80655733C>T	ENST00000307624.3	-	5	513	c.485G>A	c.(484-486)aGc>aAc	p.S162N	ACOT12_ENST00000513751.1_Missense_Mutation_p.S162N	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	162					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.S162N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATCAAATTTGCTACTTTCCTT	0.333																																					p.S162N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G485A	5						.						109.0	107.0	108.0					5																	80655733		2202	4298	6500	80691489	SO:0001583	missense	134526	exon5			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.485G>A	5.37:g.80655733C>T	ENSP00000303246:p.Ser162Asn	Somatic		Capture	Illumina HiSeq	Phase_I	80691489	NM_130767	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644147	0.14451	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.31247	2.52;1.5	5.04	3.09	0.35607	.	0.447510	0.25461	N	0.030504	T	0.16428	0.0395	N	0.20685	0.6	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.22138	-1.0225	10	0.12766	T	0.61	-2.8548	9.024	0.36218	0.1463:0.7728:0.0:0.0808	.	162;162	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	N	162	ENSP00000303246:S162N;ENSP00000421628:S162N	ENSP00000303246:S162N	S	-	2	0	ACOT12	80691489	0.003000	0.15002	0.022000	0.16811	0.013000	0.08279	0.351000	0.20096	1.227000	0.43598	0.655000	0.94253	AGC		0.333	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
CHD1	1105	broad.mit.edu	37	5	98212187	98212187	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:98212187C>T	ENST00000284049.3	-	23	3462	c.3313G>A	c.(3313-3315)Gaa>Aaa	p.E1105K		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1105					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.E1105K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTTCCCTTCTGAGATGGAA	0.413																																					p.E1105K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3313A	5						.						171.0	167.0	168.0					5																	98212187		2203	4300	6503	98240087	SO:0001583	missense	1105	exon23			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3313G>A	5.37:g.98212187C>T	ENSP00000284049:p.Glu1105Lys	Somatic		Capture	Illumina HiSeq	Phase_I	98240087	NM_001270	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626490	0.46840	.	.	ENSG00000153922	ENST00000284049	D	0.89746	-2.56	5.14	5.14	0.70334	.	0.000000	0.34507	U	0.003918	D	0.83774	0.5327	N	0.22421	0.69	0.58432	D	0.999998	B	0.17268	0.021	B	0.16722	0.016	T	0.79198	-0.1902	10	0.52906	T	0.07	.	18.981	0.92755	0.0:1.0:0.0:0.0	.	1105	O14646	CHD1_HUMAN	K	1105	ENSP00000284049:E1105K	ENSP00000284049:E1105K	E	-	1	0	CHD1	98240087	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	7.480000	0.81109	2.546000	0.85860	0.650000	0.86243	GAA		0.413	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
CSF1R	1436	broad.mit.edu	37	5	149450109	149450109	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:149450109delG	ENST00000286301.3	-	8	1399	c.1108delC	c.(1108-1110)cgcfs	p.R370fs	CSF1R_ENST00000543093.1_Frame_Shift_Del_p.P305fs	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	370	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.R370fs*2(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCTTCAGGCGGGGCAGAGAG	0.597																																					p.R370fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1108delC	5						.						23.0	23.0	23.0					5																	149450109		2170	4224	6394	149430302	SO:0001589	frameshift_variant	1436	exon8			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1108delC	5.37:g.149450109delG	ENSP00000286301:p.Arg370fs	Somatic		Capture	Illumina HiSeq	Phase_I	149430302	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Frame_Shift_Del	DEL	ENST00000286301.3	37	CCDS4302.1																																																																																				0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
FLT4	2324	broad.mit.edu	37	5	180038349	180038349	+	Missense_Mutation	SNP	C	C	T	rs373742042		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr5:180038349C>T	ENST00000261937.6	-	27	3746	c.3668G>A	c.(3667-3669)cGc>cAc	p.R1223H	FLT4_ENST00000502649.1_Missense_Mutation_p.R1223H|FLT4_ENST00000393347.3_Missense_Mutation_p.R1223H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1223					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1223H(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCTGTGGCGCTGCAGGCT	0.627																																					p.R1223H	Colon(97;1075 1466 27033 27547 35871)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3668A	5						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	69.0	74.0	72.0		3668,3668	0.6	0.5	5		72	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	FLT4	NM_182925.4,NM_002020.4	29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1223/1364,1223/1299	180038349	1,12995	2203	4295	6498	179970955	SO:0001583	missense	2324	exon27			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3668G>A	5.37:g.180038349C>T	ENSP00000261937:p.Arg1223His	Somatic		Capture	Illumina HiSeq	Phase_I	179970955	NM_182925	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	7.340	0.620731	0.14193	0.0	1.16E-4	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76839	-1.05;-1.04;-1.04	4.39	0.571	0.17352	.	.	.	.	.	T	0.54854	0.1884	N	0.08118	0	0.25023	N	0.991324	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.42155	-0.9468	9	0.44086	T	0.13	.	5.6465	0.17592	0.0:0.6228:0.1401:0.237	.	1223;1223	E9PD35;P35916	.;VGFR3_HUMAN	H	1223	ENSP00000261937:R1223H;ENSP00000377016:R1223H;ENSP00000426057:R1223H	ENSP00000261937:R1223H	R	-	2	0	FLT4	179970955	0.995000	0.38212	0.477000	0.27303	0.074000	0.17049	0.979000	0.29500	-0.016000	0.14127	-0.439000	0.05793	CGC		0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
ROS1	6098	broad.mit.edu	37	6	117715401	117715402	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:117715401_117715402insA	ENST00000368508.3	-	10	1285_1286	c.1087_1088insT	c.(1087-1089)tacfs	p.Y363fs	ROS1_ENST00000368507.3_Frame_Shift_Ins_p.Y372fs|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	363					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y363fs*25(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGAACCTCTGTAAAAAATTCTC	0.381			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.Y363fs			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1088_1089insT	6						.																																			117822095	SO:0001589	frameshift_variant	6098	exon10			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1088dupT	6.37:g.117715407_117715407dupA	ENSP00000357494:p.Tyr363fs	Somatic		Capture	Illumina HiSeq	Phase_I	117822094	NM_002944	Q15368|Q5TDB5	Frame_Shift_Ins	INS	ENST00000368508.3	37	CCDS5116.1																																																																																				0.381	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
HIVEP2	3097	broad.mit.edu	37	6	143095257	143095258	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:143095257_143095258insT	ENST00000367604.1	-	4	1257_1258	c.618_619insA	c.(616-621)aaacacfs	p.H207fs	HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.H207fs|HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.H207fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	207					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.H207fs*38(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GACCTGATGTGTTTTTTCAGTA	0.465																																					p.H207fs	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.619_620insA	6						.																																			143136951	SO:0001589	frameshift_variant	3097	exon5			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.619dupA	6.37:g.143095263_143095263dupT	ENSP00000356576:p.His207fs	Somatic		Capture	Illumina HiSeq	Phase_I	143136950	NM_006734	Q02646|Q5THT5|Q9NS05	Frame_Shift_Ins	INS	ENST00000367604.1	37	CCDS43510.1																																																																																				0.465	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
HACE1	57531	broad.mit.edu	37	6	105244559	105244559	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:105244559T>C	ENST00000262903.4	-	9	1063	c.787A>G	c.(787-789)Aca>Gca	p.T263A	HACE1_ENST00000369125.2_Missense_Mutation_p.T263A	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	263					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.T263A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCATTCTGTGTCATTTGAATA	0.343																																					p.T263A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A787G	6						.						81.0	81.0	81.0					6																	105244559		2203	4297	6500	105351252	SO:0001583	missense	57531	exon9			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.787A>G	6.37:g.105244559T>C	ENSP00000262903:p.Thr263Ala	Somatic		Capture	Illumina HiSeq	Phase_I	105351252	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072961	0.76415	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.36520	1.25;1.26	5.6	5.6	0.85130	.	0.095087	0.64402	D	0.000001	T	0.31263	0.0791	N	0.24115	0.695	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.09037	-1.0693	10	0.21540	T	0.41	.	15.7759	0.78214	0.0:0.0:0.0:1.0	.	263;263	E9PGP0;Q8IYU2	.;HACE1_HUMAN	A	263	ENSP00000262903:T263A;ENSP00000358121:T263A	ENSP00000262903:T263A	T	-	1	0	HACE1	105351252	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.285000	0.78660	2.120000	0.65058	0.477000	0.44152	ACA		0.343	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
EYA4	2070	broad.mit.edu	37	6	133785982	133785982	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:133785982A>G	ENST00000367895.5	+	10	1254	c.790A>G	c.(790-792)Agt>Ggt	p.S264G	EYA4_ENST00000430974.2_Missense_Mutation_p.S210G|EYA4_ENST00000452339.2_Missense_Mutation_p.S210G|EYA4_ENST00000355167.3_Missense_Mutation_p.S264G|EYA4_ENST00000525849.1_Missense_Mutation_p.S241G|EYA4_ENST00000355286.6_Missense_Mutation_p.S241G|EYA4_ENST00000431403.2_Missense_Mutation_p.S264G|EYA4_ENST00000531901.1_Missense_Mutation_p.S264G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	264					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.S264G(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACGAATTTCAGTGGTTCACA	0.308																																					p.S241G	Melanoma(57;398 1237 3528 4702 7415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A721G	6						.						95.0	91.0	93.0					6																	133785982		2200	4296	6496	133827675	SO:0001583	missense	2070	exon9			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.790A>G	6.37:g.133785982A>G	ENSP00000356870:p.Ser264Gly	Somatic		Capture	Illumina HiSeq	Phase_I	133827675	NM_172103	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531332	0.45073	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.99	5.99	0.97316	.	0.120567	0.85682	D	0.000000	T	0.51702	0.1690	N	0.08118	0	0.43279	D	0.99524	B;B;B;B;B;B	0.24317	0.029;0.023;0.066;0.066;0.101;0.056	B;B;B;B;B;B	0.28916	0.062;0.039;0.022;0.036;0.096;0.039	T	0.55335	-0.8157	10	0.17369	T	0.5	-17.6855	16.4943	0.84223	1.0:0.0:0.0:0.0	.	264;210;210;241;264;264	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	G	210;210;264;264;241;264;241;264	ENSP00000395916:S210G;ENSP00000388670:S210G;ENSP00000356870:S264G;ENSP00000347294:S264G;ENSP00000347434:S241G;ENSP00000432770:S264G;ENSP00000433219:S241G;ENSP00000404558:S264G	ENSP00000347294:S264G	S	+	1	0	EYA4	133827675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.291000	0.77112	0.533000	0.62120	AGT		0.308	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
HIVEP2	3097	broad.mit.edu	37	6	143082638	143082638	+	Silent	SNP	T	T	C	rs200660585	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:143082638T>C	ENST00000367604.1	-	7	6222	c.5583A>G	c.(5581-5583)tcA>tcG	p.S1861S	HIVEP2_ENST00000012134.2_Silent_p.S1861S|HIVEP2_ENST00000367603.2_Silent_p.S1861S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1861					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.S1861S(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCGATGTCATTGAGACTCCCA	0.388													T|||	10	0.00199681	0.0076	0.0	5008	,	,		15521	0.0		0.0	False		,,,				2504	0.0				p.S1861S	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5583G	6						.	T		34,3740		0,34,1853	192.0	181.0	184.0		5583	-3.4	1.0	6		184	0,8238		0,0,4119	no	coding-synonymous	HIVEP2	NM_006734.3		0,34,5972	CC,CT,TT		0.0,0.9009,0.2831		1861/2447	143082638	34,11978	1887	4119	6006	143124331	SO:0001819	synonymous_variant	3097	exon8			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5583A>G	6.37:g.143082638T>C		Somatic		Capture	Illumina HiSeq	Phase_I	143124331	NM_006734	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.388	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
PHACTR2	9749	broad.mit.edu	37	6	144104400	144104400	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:144104400C>T	ENST00000427704.2	+	10	1787	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	PHACTR2_ENST00000440869.2_Missense_Mutation_p.R564C|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R484C|PHACTR2_ENST00000305766.6_Missense_Mutation_p.R473C|PHACTR2_ENST00000367584.4_Missense_Mutation_p.R541C	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	553							protein phosphatase inhibitor activity (GO:0004864)	p.R564C(1)|p.R473C(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GGAACTTAAACGCAGACTCAG	0.303																																					p.R484C	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1450T	6						.						67.0	67.0	67.0					6																	144104400		1965	4145	6110	144146093	SO:0001583	missense	9749	exon9			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1657C>T	6.37:g.144104400C>T	ENSP00000391763:p.Arg553Cys	Somatic		Capture	Illumina HiSeq	Phase_I	144146093	NM_001100165	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471433	0.84533	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.37235	1.21;1.62;1.23;1.62;1.23	6.16	6.16	0.99307	.	0.092126	0.85682	D	0.000000	T	0.60077	0.2241	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.999;0.999;0.988	T	0.60742	-0.7203	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	564;473;484;553	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	C	541;553;473;564;484	ENSP00000356556:R541C;ENSP00000391763:R553C;ENSP00000305530:R473C;ENSP00000417038:R564C;ENSP00000356554:R484C	ENSP00000305530:R473C	R	+	1	0	PHACTR2	144146093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.443000	0.52907	2.937000	0.99478	0.650000	0.86243	CGC		0.303	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721	
SASH1	23328	broad.mit.edu	37	6	148854037	148854037	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:148854037G>A	ENST00000367467.3	+	14	2144	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	557	SH3.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.G557R(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCGTTCTGCGGGCGTGCCAG	0.582																																					p.G557R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1669A	6						.						130.0	126.0	127.0					6																	148854037		2203	4300	6503	148895730	SO:0001583	missense	23328	exon14			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1669G>A	6.37:g.148854037G>A	ENSP00000356437:p.Gly557Arg	Somatic		Capture	Illumina HiSeq	Phase_I	148895730	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779928	0.90195	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.28454	1.61	4.86	4.86	0.63082	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66720	-0.5852	10	0.72032	D	0.01	-30.4101	18.2189	0.89895	0.0:0.0:1.0:0.0	.	538;557	Q6P4R9;O94885	.;SASH1_HUMAN	R	557;318	ENSP00000356437:G557R	ENSP00000356437:G557R	G	+	1	0	SASH1	148895730	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	9.208000	0.95075	2.537000	0.85549	0.655000	0.94253	GGG		0.582	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
AKAP12	9590	broad.mit.edu	37	6	151672611	151672611	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:151672611G>A	ENST00000253332.1	+	3	3274	c.3085G>A	c.(3085-3087)Gta>Ata	p.V1029I	AKAP12_ENST00000402676.2_Missense_Mutation_p.V1029I|AKAP12_ENST00000359755.5_Missense_Mutation_p.V924I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V931I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1029					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.V1029I(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAAGGTGGCGTACCTGACAT	0.582																																					p.V1029I	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3085A	6						.						58.0	58.0	58.0					6																	151672611		2203	4300	6503	151714304	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3085G>A	6.37:g.151672611G>A	ENSP00000253332:p.Val1029Ile	Somatic		Capture	Illumina HiSeq	Phase_I	151714304	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820272	0.32145	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07327	3.2;3.2;3.21;3.21	5.05	-2.21	0.06973	.	1.135360	0.06811	N	0.790438	T	0.01189	0.0039	N	0.24115	0.695	0.09310	N	1	P;P;P	0.43287	0.802;0.802;0.701	B;B;B	0.31337	0.128;0.128;0.06	T	0.47195	-0.9136	10	0.18276	T	0.48	.	8.0122	0.30359	0.5418:0.1112:0.3469:0.0	.	924;931;1029	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	1029;1029;931;924	ENSP00000384537:V1029I;ENSP00000253332:V1029I;ENSP00000346702:V931I;ENSP00000352794:V924I	ENSP00000253332:V1029I	V	+	1	0	AKAP12	151714304	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.243000	0.08915	-0.325000	0.08577	0.462000	0.41574	GTA		0.582	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
SCAF8	22828	broad.mit.edu	37	6	155154117	155154117	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:155154117G>A	ENST00000367178.3	+	20	3980	c.3404G>A	c.(3403-3405)gGt>gAt	p.G1135D	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.G1201D|SCAF8_ENST00000417268.1_Missense_Mutation_p.G1135D	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1135	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.G1135D(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCTAGAAGTGGTCCTTGGAAC	0.463																																					p.G1135D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3404A	6						.						88.0	96.0	94.0					6																	155154117		2203	4300	6503	155195809	SO:0001583	missense	22828	exon20			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3404G>A	6.37:g.155154117G>A	ENSP00000356146:p.Gly1135Asp	Somatic		Capture	Illumina HiSeq	Phase_I	155195809	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590511	0.46214	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.66099	-0.11;-0.11;-0.19	5.79	5.79	0.91817	.	0.177034	0.35838	U	0.002945	T	0.53174	0.1780	L	0.27053	0.805	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.974	P;P;P	0.53912	0.737;0.737;0.601	T	0.57400	-0.7818	10	0.52906	T	0.07	.	15.4978	0.75669	0.0:0.1378:0.8622:0.0	.	1180;1201;1135	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	D	1135;1135;1201;96	ENSP00000356146:G1135D;ENSP00000413098:G1135D;ENSP00000356154:G1201D	ENSP00000356146:G1135D	G	+	2	0	TIAM2;SCAF8	155195809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.009000	0.57110	2.726000	0.93360	0.655000	0.94253	GGT		0.463	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
NOX3	50508	broad.mit.edu	37	6	155718088	155718088	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:155718088A>G	ENST00000159060.2	-	13	1691	c.1589T>C	c.(1588-1590)aTt>aCt	p.I530T		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	530					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.I530T(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GAACACGCCAATACTGCTGCT	0.448																																					p.I530T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1589C	6						.						67.0	68.0	68.0					6																	155718088		2203	4300	6503	155759780	SO:0001583	missense	50508	exon13			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1589T>C	6.37:g.155718088A>G	ENSP00000159060:p.Ile530Thr	Somatic		Capture	Illumina HiSeq	Phase_I	155759780	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037689	0.54896	.	.	ENSG00000074771	ENST00000159060	D	0.95885	-3.84	5.4	5.4	0.78164	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000016	D	0.96540	0.8871	M	0.87971	2.92	0.42677	D	0.993532	P	0.50819	0.939	P	0.53988	0.739	D	0.96837	0.9615	10	0.59425	D	0.04	-21.4417	14.0118	0.64503	1.0:0.0:0.0:0.0	.	530	Q9HBY0	NOX3_HUMAN	T	530	ENSP00000159060:I530T	ENSP00000159060:I530T	I	-	2	0	NOX3	155759780	0.991000	0.36638	0.663000	0.29738	0.481000	0.33189	6.385000	0.73182	2.055000	0.61198	0.379000	0.24179	ATT		0.448	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
FNDC1	84624	broad.mit.edu	37	6	159653798	159653798	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:159653798G>A	ENST00000297267.9	+	11	2454	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A689T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	752	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A752T(1)		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)		GGACGCCCCAGCCACCAACTC	0.617																																					p.A752T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2254A	6						.						42.0	46.0	45.0					6																	159653798		2150	4252	6402	159573788	SO:0001583	missense	84624	exon11			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.2254G>A	6.37:g.159653798G>A	ENSP00000297267:p.Ala752Thr	Somatic		Capture	Illumina HiSeq	Phase_I	159573788	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.02|14.02	2.411726|2.411726	0.42817|0.42817	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09073|.	3.02;3.68|.	4.5|4.5	1.63|1.63	0.23807|0.23807	.|.	0.731031|.	0.12306|.	N|.	0.480698|.	T|T	0.10766|0.10766	0.0263|0.0263	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	P;B|.	0.40180|.	0.705;0.437|.	B;B|.	0.44044|.	0.439;0.14|.	T|T	0.30534|0.30534	-0.9975|-0.9975	10|5	0.18276|.	T|.	0.48|.	-9.5144|-9.5144	4.3361|4.3361	0.11087|0.11087	0.1978:0.0:0.6209:0.1813|0.1978:0.0:0.6209:0.1813	.|.	689;752|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|N	752;689|647	ENSP00000297267:A752T;ENSP00000342460:A689T|.	ENSP00000297267:A752T|.	A|S	+|+	1|2	0|0	FNDC1|FNDC1	159573788|159573788	0.079000|0.079000	0.21365|0.21365	0.003000|0.003000	0.11579|0.11579	0.014000|0.014000	0.08584|0.08584	2.037000|2.037000	0.41174|0.41174	0.319000|0.319000	0.23209|0.23209	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.617	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
MAP3K4	4216	broad.mit.edu	37	6	161505604	161505604	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:161505604A>G	ENST00000392142.4	+	7	2475	c.2327A>G	c.(2326-2328)gAa>gGa	p.E776G	MAP3K4_ENST00000348824.7_Missense_Mutation_p.E776G|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E776G|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E776G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	776					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E776G(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGCTGTGCTGAATTTTGGACT	0.423																																					p.E776G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2327G	6						.						163.0	145.0	151.0					6																	161505604		2203	4300	6503	161425594	SO:0001583	missense	4216	exon7			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2327A>G	6.37:g.161505604A>G	ENSP00000375986:p.Glu776Gly	Somatic		Capture	Illumina HiSeq	Phase_I	161425594	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338410	0.81911	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.79	4.6	0.57074	.	0.065834	0.64402	D	0.000013	T	0.76428	0.3986	M	0.71581	2.175	0.50467	D	0.999875	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.989;0.994;0.996	T	0.77094	-0.2715	10	0.40728	T	0.16	-25.5355	12.9433	0.58359	0.8646:0.1354:0.0:0.0	.	776;776;776	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	G	776	ENSP00000355886:E776G;ENSP00000375986:E776G;ENSP00000355887:E776G;ENSP00000297332:E776G	ENSP00000297332:E776G	E	+	2	0	MAP3K4	161425594	1.000000	0.71417	0.007000	0.13788	0.873000	0.50193	4.817000	0.62650	0.985000	0.38656	0.528000	0.53228	GAA		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
NUP153	9972	broad.mit.edu	37	6	17629371	17629371	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:17629371G>T	ENST00000262077.2	-	18	3058	c.3059C>A	c.(3058-3060)gCa>gAa	p.A1020E	NUP153_ENST00000537253.1_Missense_Mutation_p.A1051E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1020					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.A1020E(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTAAAACCTGCAGAGGAAGA	0.433																																					p.A1020E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3059A	6						.						75.0	76.0	76.0					6																	17629371		2203	4300	6503	17737350	SO:0001583	missense	9972	exon18			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3059C>A	6.37:g.17629371G>T	ENSP00000262077:p.Ala1020Glu	Somatic		Capture	Illumina HiSeq	Phase_I	17737350	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329055	0.41197	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07114	3.22;3.23	5.75	2.85	0.33270	.	0.786957	0.10987	N	0.612076	T	0.01905	0.0060	L	0.40543	1.245	0.09310	N	0.999998	P;B;B	0.40834	0.73;0.411;0.411	B;B;B	0.42112	0.376;0.209;0.07	T	0.27971	-1.0058	10	0.05525	T	0.97	-1.3652	5.1244	0.14876	0.0815:0.3023:0.5034:0.1128	.	1051;1000;1020	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	E	1020;1000;1051	ENSP00000262077:A1020E;ENSP00000444029:A1051E	ENSP00000262077:A1020E	A	-	2	0	NUP153	17737350	0.568000	0.26635	0.592000	0.28758	0.724000	0.41520	1.110000	0.31147	0.775000	0.33450	0.655000	0.94253	GCA		0.433	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
KIF13A	63971	broad.mit.edu	37	6	17855844	17855844	+	Silent	SNP	C	C	T	rs189079716	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:17855844C>T	ENST00000259711.6	-	6	423	c.318G>A	c.(316-318)tcG>tcA	p.S106S	KIF13A_ENST00000378826.2_Silent_p.S106S|KIF13A_ENST00000378816.5_Silent_p.S106S|KIF13A_ENST00000378814.5_Silent_p.S106S|KIF13A_ENST00000378843.2_Silent_p.S106S	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	106	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S106S(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGGATTTTCCCGAACCTGGAG	0.453													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19617	0.0		0.001	False		,,,				2504	0.0				p.S106S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G318A	6						.						23.0	23.0	23.0					6																	17855844		1887	4128	6015	17963823	SO:0001819	synonymous_variant	63971	exon6			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.318G>A	6.37:g.17855844C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17963823	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	CCDS47381.1																																																																																				0.453	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
HIST1H2BE	8344	broad.mit.edu	37	6	26184202	26184202	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:26184202T>C	ENST00000356530.3	+	1	245	c.179T>C	c.(178-180)aTg>aCg	p.M60T		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	60					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M60T(1)		endometrium(1)|large_intestine(2)|lung(1)	4						TCTAAAGCCATGGGGATCATG	0.582																																					p.M60T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T179C	6						.						161.0	151.0	154.0					6																	26184202		2203	4300	6503	26292181	SO:0001583	missense	8344	exon1			Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.179T>C	6.37:g.26184202T>C	ENSP00000348924:p.Met60Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26292181	NM_003523	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.340884	0.24339	.	.	ENSG00000197697	ENST00000356530	T	0.69806	-0.43	4.96	4.96	0.65561	.	0.000000	0.41194	U	0.000936	T	0.67951	0.2948	.	.	.	0.39928	D	0.974245	.	.	.	.	.	.	T	0.74303	-0.3709	7	0.87932	D	0	.	10.6803	0.45811	0.1429:0.0:0.0:0.8571	.	.	.	.	T	60	ENSP00000348924:M60T	ENSP00000348924:M60T	M	+	2	0	HIST1H2BE	26292181	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.840000	0.62817	2.005000	0.58758	0.438000	0.28831	ATG		0.582	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523	
ZKSCAN3	80317	broad.mit.edu	37	6	28333731	28333731	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:28333731G>A	ENST00000377255.3	+	7	1583	c.1286G>A	c.(1285-1287)aGt>aAt	p.S429N	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.S429N|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.S281N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	429					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S429N(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TATCAGTGCAGTATGTGTGGC	0.512																																					p.S429N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1286A	6						.						72.0	73.0	73.0					6																	28333731		2203	4300	6503	28441710	SO:0001583	missense	80317	exon6			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1286G>A	6.37:g.28333731G>A	ENSP00000366465:p.Ser429Asn	Somatic		Capture	Illumina HiSeq	Phase_I	28441710	NM_024493	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	0.019	-1.449546	0.01080	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.19250	2.16;2.16;2.16	3.97	-4.15	0.03881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	N	0.12611	0.24	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41431	-0.9509	9	0.02654	T	1	.	1.9134	0.03292	0.3843:0.1375:0.3439:0.1343	.	429	Q9BRR0	ZKSC3_HUMAN	N	429;281;429	ENSP00000252211:S429N;ENSP00000341883:S281N;ENSP00000366465:S429N	ENSP00000252211:S429N	S	+	2	0	ZKSCAN3	28441710	0.000000	0.05858	0.076000	0.20297	0.836000	0.47400	-3.733000	0.00380	-0.549000	0.06191	-0.290000	0.09829	AGT		0.512	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493	
TRIM10	10107	broad.mit.edu	37	6	30128272	30128272	+	Missense_Mutation	SNP	G	G	A	rs370225840		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:30128272G>A	ENST00000449742.2	-	1	439	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	TRIM10_ENST00000376704.3_Missense_Mutation_p.R122W|TRIM15_ENST00000376694.4_5'Flank	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	122					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R122W(2)		ovary(1)	1						CCAGCCTCCCGGCACACCACG	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19856	0.0		0.0	False		,,,				2504	0.0				p.R122W												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C364T	6						.	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	81.0	87.0		364,364	2.3	0.2	6		87	0,8600		0,0,4300	no	missense,missense	TRIM10	NM_006778.3,NM_052828.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	122/482,122/396	30128272	1,13005	2203	4300	6503	30236251	SO:0001583	missense	10107	exon1			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.364C>T	6.37:g.30128272G>A	ENSP00000397073:p.Arg122Trp	Somatic		Capture	Illumina HiSeq	Phase_I	30236251	NM_006778	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651894	0.47362	2.27E-4	0.0	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.44482	0.92;0.92	5.37	2.34	0.29019	Zinc finger, B-box (3);	0.317119	0.23181	N	0.051005	T	0.47691	0.1459	M	0.81497	2.545	0.28670	N	0.905673	D;D	0.89917	1.0;0.999	D;P	0.69824	0.966;0.87	T	0.36986	-0.9725	10	0.72032	D	0.01	.	7.9189	0.29835	0.0:0.1559:0.4236:0.4205	.	122;122	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	W	122	ENSP00000397073:R122W;ENSP00000365894:R122W	ENSP00000365894:R122W	R	-	1	2	TRIM10	30236251	0.001000	0.12720	0.223000	0.23860	0.180000	0.23129	-0.244000	0.08903	0.711000	0.32018	0.549000	0.68633	CGG		0.592	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
NCR3	259197	broad.mit.edu	37	6	31556310	31556310	+	IGR	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:31556310G>T	ENST00000340027.5	-	0	1042				LST1_ENST00000396101.3_Intron|LST1_ENST00000339530.4_Missense_Mutation_p.R50I|LST1_ENST00000376096.1_Intron|LST1_ENST00000376111.4_5'UTR|LST1_ENST00000438075.2_Nonsense_Mutation_p.E51*|LST1_ENST00000376090.2_Missense_Mutation_p.R12I|LST1_ENST00000376089.2_Nonsense_Mutation_p.E20*|LST1_ENST00000376092.3_Missense_Mutation_p.R19I|LST1_ENST00000303757.8_Missense_Mutation_p.R43I|LST1_ENST00000376099.1_Missense_Mutation_p.R12I|NCR3_ENST00000491161.1_5'Flank|LST1_ENST00000418507.2_Nonsense_Mutation_p.E20*|LST1_ENST00000376100.3_Missense_Mutation_p.R19I|LST1_ENST00000376110.3_Intron|LST1_ENST00000211921.7_Missense_Mutation_p.R12I|LST1_ENST00000376093.2_Nonsense_Mutation_p.E58*|LST1_ENST00000376086.3_Nonsense_Mutation_p.E27*|LST1_ENST00000376102.3_Nonsense_Mutation_p.E45*	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3						cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)		p.E51*(1)		cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GGGCTCCTCAGAGCAGGAACT	0.607																																					p.E58X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G172T	6						.						37.0	26.0	30.0					6																	31556310		1511	2707	4218	31664289	SO:0001628	intergenic_variant	7940	exon4			AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	protein-coding gene	gene with protein product		611550	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123		6.37:g.31556310G>T		Somatic		Capture	Illumina HiSeq	Phase_I	31664289	NM_007161	B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Nonsense_Mutation	SNP	ENST00000340027.5	37	CCDS34397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.06|12.06	1.825309|1.825309	0.32237|0.32237	.|.	.|.	ENSG00000204482|ENSG00000204482	ENST00000418507;ENST00000438075;ENST00000396114;ENST00000396117;ENST00000376089;ENST00000376086;ENST00000376093;ENST00000376102;ENST00000490742|ENST00000376100;ENST00000376099;ENST00000339530;ENST00000211921;ENST00000396107;ENST00000376090;ENST00000303757;ENST00000376092	.|.	.|.	.|.	4.43|4.43	2.64|2.64	0.31445|0.31445	.|.	.|.	.|.	.|.	.|.	.|T	.|0.23370	.|0.0565	.|.	.|.	.|.	0.21802|0.21802	N|N	0.999534|0.999534	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.20075	.|-1.0286	.|5	0.33141|0.87932	T|D	0.24|0	-3.0E-4|-3.0E-4	6.2769|6.2769	0.20985|0.20985	0.1015:0.1872:0.7113:0.0|0.1015:0.1872:0.7113:0.0	.|.	.|.	.|.	.|.	X|I	20;51;20;51;20;27;58;45;44|19;12;50;12;12;12;43;19	.|.	ENSP00000365254:E27X|ENSP00000211921:R12I	E|R	+|+	1|2	0|0	LST1|LST1	31664289|31664289	0.850000|0.850000	0.29656|0.29656	0.064000|0.064000	0.19789|0.19789	0.063000|0.063000	0.16089|0.16089	1.228000|1.228000	0.32588|0.32588	0.614000|0.614000	0.30107|0.30107	0.400000|0.400000	0.26472|0.26472	GAG|AGA		0.607	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2		
LY6G6C	80740	broad.mit.edu	37	6	31691574	31691574	+	5'Flank	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:31691574G>A	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Missense_Mutation_p.V74M|C6orf25_ENST00000375809.3_Missense_Mutation_p.V74M|C6orf25_ENST00000375805.2_Missense_Mutation_p.V74M|LY6G6C_ENST00000495859.1_5'Flank|C6orf25_ENST00000480039.1_Missense_Mutation_p.V74M	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V74M(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GACCCCCACCGTGCCTCCCCT	0.682																																					p.V74M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	6						.						47.0	57.0	54.0					6																	31691574		2203	4297	6500	31799553	SO:0001631	upstream_gene_variant	80739	exon2				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691574G>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	31799553	NM_138272	Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922284	0.52653	.	.	ENSG00000204420	ENST00000480039;ENST00000375810;ENST00000375805;ENST00000375809;ENST00000375804;ENST00000375814;ENST00000375806	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.79	2.91	0.33838	Immunoglobulin subtype (1);	0.322376	0.22544	N	0.058700	T	0.42743	0.1216	L	0.34521	1.04	0.27496	N	0.952121	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.78314	0.991;0.917;0.917;0.917;0.917;0.917	T	0.21793	-1.0235	10	0.87932	D	0	-5.5479	6.1424	0.20266	0.105:0.2038:0.6913:0.0	.	74;74;74;74;74;74	O95866-3;O95866-5;O95866;O95866-4;O95866-7;B0V023	.;.;G6B_HUMAN;.;.;.	M	74	ENSP00000419306:V74M;ENSP00000364968:V74M;ENSP00000364963:V74M;ENSP00000364967:V74M;ENSP00000364962:V74M;ENSP00000364972:V74M;ENSP00000364964:V74M	ENSP00000364962:V74M	V	+	1	0	C6orf25	31799553	0.283000	0.24277	0.698000	0.30274	0.415000	0.31203	1.651000	0.37302	1.239000	0.43787	0.491000	0.48974	GTG		0.682	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2		
MSH5	4439	broad.mit.edu	37	6	31721357	31721357	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:31721357G>A	ENST00000375755.3	+	12	1251	c.965G>A	c.(964-966)cGc>cAc	p.R322H	MSH5_ENST00000375742.3_Missense_Mutation_p.R339H|MSH5_ENST00000375740.3_Missense_Mutation_p.R339H|MSH5_ENST00000375750.3_Missense_Mutation_p.R322H|MSH5_ENST00000534153.4_Missense_Mutation_p.R339H|MSH5_ENST00000375703.3_Missense_Mutation_p.R322H|MSH5_ENST00000431848.2_Missense_Mutation_p.R21H|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R339H	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	322					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.R339H(1)|p.R322H(1)		breast(1)|ovary(2)|skin(2)	5						ATTCTGAAACGCATGAAGTTG	0.517								Direct reversal of damage;Mismatch excision repair (MMR)																													p.R339H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1016A	6						.						126.0	116.0	120.0					6																	31721357		2203	4300	6503	31829336	SO:0001583	missense	4439	exon12			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.965G>A	6.37:g.31721357G>A	ENSP00000364908:p.Arg322His	Somatic		Capture	Illumina HiSeq	Phase_I	31829336	NM_025259	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264102	0.80358	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848	T;T;T;T;T;T;T;D	0.94576	0.97;0.97;0.97;0.97;0.97;0.97;0.97;-3.46	5.04	5.04	0.67666	DNA mismatch repair protein MutS, core (3);	0.180306	0.33895	N	0.004455	D	0.94827	0.8329	L	0.47190	1.495	0.38070	D	0.936348	D;D;P;D	0.89917	1.0;1.0;0.943;1.0	D;D;P;D	0.85130	0.987;0.997;0.576;0.991	D	0.94642	0.7831	9	0.42905	T	0.14	-13.0364	13.9104	0.63864	0.0:0.0:1.0:0.0	.	339;322;322;339	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	H	322;339;322;339;322;339;159;21	ENSP00000364908:R322H;ENSP00000364894:R339H;ENSP00000364903:R322H;ENSP00000431693:R339H;ENSP00000364855:R322H;ENSP00000364892:R339H;ENSP00000394971:R159H;ENSP00000416784:R21H	ENSP00000364855:R322H	R	+	2	0	MSH5	31829336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.290000	0.72712	2.323000	0.78572	0.462000	0.41574	CGC		0.517	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		
HSPA1L	3305	broad.mit.edu	37	6	31777883	31777883	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:31777883C>T	ENST00000375654.4	-	2	2056	c.1867G>A	c.(1867-1869)Gga>Aga	p.G623R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G623R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	623					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.G623R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TACCCTGTTCCGCAGGCAGGC	0.458																																					p.G623R												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1867A	6						.						84.0	82.0	83.0					6																	31777883		2203	4300	6503	31885862	SO:0001583	missense	3305	exon2			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1867G>A	6.37:g.31777883C>T	ENSP00000364805:p.Gly623Arg	Somatic		Capture	Illumina HiSeq	Phase_I	31885862	NM_005527	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	6.768	0.510520	0.12883	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01068	5.38;5.38	5.52	2.59	0.31030	.	0.833861	0.09782	N	0.756460	T	0.00845	0.0028	M	0.85542	2.76	0.09310	N	1	D	0.53885	0.963	B	0.37943	0.261	T	0.48422	-0.9037	10	0.62326	D	0.03	-0.9058	7.3562	0.26721	0.1367:0.7045:0.0:0.1587	.	623	P34931	HS71L_HUMAN	R	623;623;568	ENSP00000364805:G623R;ENSP00000387691:G623R	ENSP00000364804:G568R	G	-	1	0	HSPA1L	31885862	0.000000	0.05858	0.002000	0.10522	0.533000	0.34776	1.123000	0.31308	0.789000	0.33779	0.591000	0.81541	GGA		0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
EGFL8	80864	broad.mit.edu	37	6	32134500	32134500	+	Missense_Mutation	SNP	C	C	T	rs376635812		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:32134500C>T	ENST00000395512.1	+	4	352	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.R83W			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	83	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R83W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGTTATGTGGCGGGAGGTGAG	0.652																																					p.R83W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C247T	6						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	47.0	56.0	53.0		247	0.3	1.0	6		53	0,8600		0,0,4300	no	missense	EGFL8	NM_030652.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	83/294	32134500	1,13005	2203	4300	6503	32242478	SO:0001583	missense	80864	exon4			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.247C>T	6.37:g.32134500C>T	ENSP00000378888:p.Arg83Trp	Somatic		Capture	Illumina HiSeq	Phase_I	32242478	NM_030652	B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178027	0.78564	2.27E-4	0.0	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	T;T;T	0.55588	0.51;0.51;0.51	6.08	0.346	0.16017	EMI domain (2);	.	.	.	.	T	0.62913	0.2467	M	0.78456	2.415	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	T	0.70753	-0.4786	9	0.87932	D	0	-20.3623	14.3132	0.66429	0.6053:0.3947:0.0:0.0	.	83	Q99944	EGFL8_HUMAN	W	83	ENSP00000333380:R83W;ENSP00000378888:R83W;ENSP00000401694:R83W	ENSP00000333380:R83W	R	+	1	2	EGFL8	32242478	0.983000	0.35010	0.998000	0.56505	0.921000	0.55340	-0.016000	0.12613	0.073000	0.16731	0.655000	0.94253	CGG		0.652	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652	
NOTCH4	4855	broad.mit.edu	37	6	32170047	32170047	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:32170047G>A	ENST00000375023.3	-	21	3699	c.3561C>T	c.(3559-3561)tgC>tgT	p.C1187C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1187					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.C1187C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCCAGCATCGCAGGCCCCAT	0.667																																					p.G1187G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3561T	6						.						31.0	33.0	32.0					6																	32170047		1509	2708	4217	32278025	SO:0001819	synonymous_variant	4855	exon21				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3561C>T	6.37:g.32170047G>A		Somatic		Capture	Illumina HiSeq	Phase_I	32278025	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1																																																																																				0.667	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
PSMB9	5698	broad.mit.edu	37	6	32826184	32826184	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:32826184C>T	ENST00000374859.2	+	5	503	c.434C>T	c.(433-435)gCc>gTc	p.A145V	PSMB9_ENST00000453265.2_Missense_Mutation_p.A101V|PSMB9_ENST00000395330.1_Missense_Mutation_p.A122V	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	145					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.A145V(1)		large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	CAGCCTTTTGCCATTGGTGGC	0.527																																					p.A145V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C434T	6						.						103.0	115.0	111.0					6																	32826184		1508	2709	4217	32934162	SO:0001583	missense	5698	exon5				CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.434C>T	6.37:g.32826184C>T	ENSP00000363993:p.Ala145Val	Somatic		Capture	Illumina HiSeq	Phase_I	32934162	NM_002800	B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	ENST00000374859.2	37	CCDS4759.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427662	0.62733	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859;ENST00000453265;ENST00000395333	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.85	3.98	0.46160	.	0.114180	0.64402	D	0.000017	T	0.13756	0.0333	L	0.35487	1.065	0.39638	D	0.970274	B;P	0.37101	0.416;0.582	B;B	0.38921	0.285;0.144	T	0.04607	-1.0939	10	0.62326	D	0.03	-16.056	10.9882	0.47534	0.0:0.9091:0.0:0.0909	.	101;145	B4DZW2;P28065	.;PSB9_HUMAN	V	122;122;145;101;101	ENSP00000378739:A122V;ENSP00000394363:A122V;ENSP00000363993:A145V;ENSP00000394773:A101V	ENSP00000363993:A145V	A	+	2	0	PSMB9	32934162	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.080000	0.57620	1.397000	0.46682	0.643000	0.83706	GCC		0.527	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5	NM_002800	
BRD2	6046	broad.mit.edu	37	6	32944477	32944477	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:32944477C>T	ENST00000374825.4	+	7	2665	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	BRD2_ENST00000443797.2_Missense_Mutation_p.R202C|BRD2_ENST00000449085.2_Missense_Mutation_p.R275C|BRD2_ENST00000395289.2_Missense_Mutation_p.R322C|BRD2_ENST00000374831.4_Missense_Mutation_p.R322C|BRD2_ENST00000395287.1_Missense_Mutation_p.R322C	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	322					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.R322C(1)		central_nervous_system(3)|stomach(2)	5						AGAGAGTGGTCGCCCCATCAA	0.532																																					p.R322C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C964T	6						.						111.0	107.0	108.0					6																	32944477		1511	2709	4220	33052455	SO:0001583	missense	6046	exon7			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.964C>T	6.37:g.32944477C>T	ENSP00000363958:p.Arg322Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33052455	NM_005104	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841316	0.71488	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.12147	2.84;2.84;2.8;2.71;2.8;2.82	5.19	3.35	0.38373	.	0.128673	0.36200	N	0.002737	T	0.28566	0.0707	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.10405	-1.0631	10	0.66056	D	0.02	-11.5783	8.7519	0.34620	0.0:0.7631:0.153:0.0839	.	322;322	A2AAU0;P25440	.;BRD2_HUMAN	C	322;322;322;202;322;275	ENSP00000363958:R322C;ENSP00000363964:R322C;ENSP00000378704:R322C;ENSP00000413495:R202C;ENSP00000378702:R322C;ENSP00000409145:R275C	ENSP00000363958:R322C	R	+	1	0	BRD2	33052455	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.882000	0.69714	0.832000	0.34804	0.643000	0.83706	CGC		0.532	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		
BRD2	6046	broad.mit.edu	37	6	32945648	32945648	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:32945648A>G	ENST00000374825.4	+	9	3145	c.1444A>G	c.(1444-1446)Agt>Ggt	p.S482G	BRD2_ENST00000443797.2_Missense_Mutation_p.S362G|BRD2_ENST00000449085.2_Missense_Mutation_p.S435G|BRD2_ENST00000395289.2_Missense_Mutation_p.S482G|BRD2_ENST00000374831.4_Missense_Mutation_p.S482G|BRD2_ENST00000395287.1_Missense_Mutation_p.S482G	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	482	Glu/Ser-rich.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.S482G(1)		central_nervous_system(3)|stomach(2)	5						AGAGTCCTCCAGTGAGGAAAG	0.532																																					p.S482G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1444G	6						.						97.0	95.0	96.0					6																	32945648		1510	2708	4218	33053626	SO:0001583	missense	6046	exon9			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1444A>G	6.37:g.32945648A>G	ENSP00000363958:p.Ser482Gly	Somatic		Capture	Illumina HiSeq	Phase_I	33053626	NM_005104	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408740	0.25378	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.18338	4.27;4.27;2.22;3.08;2.22;4.27	5.51	4.36	0.52297	.	0.000000	0.64402	D	0.000013	T	0.08670	0.0215	M	0.76002	2.32	0.54753	D	0.999988	B;B	0.22211	0.066;0.049	B;B	0.17098	0.017;0.016	T	0.05550	-1.0878	10	0.21540	T	0.41	-10.1618	9.5763	0.39459	0.918:0.0:0.082:0.0	.	482;482	A2AAU0;P25440	.;BRD2_HUMAN	G	482;482;482;362;482;435	ENSP00000363958:S482G;ENSP00000363964:S482G;ENSP00000378704:S482G;ENSP00000413495:S362G;ENSP00000378702:S482G;ENSP00000409145:S435G	ENSP00000363958:S482G	S	+	1	0	BRD2	33053626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.718000	0.74713	1.110000	0.41699	0.523000	0.50628	AGT		0.532	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		
COL11A2	1302	broad.mit.edu	37	6	33133518	33133518	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:33133518G>A	ENST00000374708.4	-	61	4558	c.4300C>T	c.(4300-4302)Cgt>Tgt	p.R1434C	COL11A2_ENST00000341947.2_Missense_Mutation_p.R1520C|COL11A2_ENST00000374712.1_Missense_Mutation_p.R1439C|COL11A2_ENST00000395197.1_Missense_Mutation_p.R1460C|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000357486.1_Missense_Mutation_p.R1499C|COL11A2_ENST00000374714.1_Missense_Mutation_p.R1494C|COL11A2_ENST00000374713.1_Missense_Mutation_p.R1473C|COL11A2_ENST00000361917.1_Missense_Mutation_p.R1413C	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1520	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R1520C(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCATCAGACGGCTTCCATCC	0.652																																					p.R1434C	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4300T	6						.						62.0	62.0	62.0					6																	33133518		2203	4300	6503	33241496	SO:0001583	missense	1302	exon61			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4300C>T	6.37:g.33133518G>A	ENSP00000363840:p.Arg1434Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33241496	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870551	0.72065	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	D;D;D;D;D;D;D;D	0.89810	-2.51;-2.41;-2.46;-2.47;-2.46;-2.47;-2.57;-2.47	4.4	3.5	0.40072	.	0.292856	0.29053	N	0.013294	T	0.75459	0.3852	N	0.08118	0	0.42504	D	0.992946	D;D;D;D	0.65815	0.995;0.987;0.987;0.988	P;P;P;P	0.50896	0.642;0.653;0.653;0.451	T	0.80725	-0.1254	10	0.66056	D	0.02	.	10.9979	0.47587	0.0:0.0:0.8049:0.1951	.	116;1413;1434;1520	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	C	1434;1520;1499;1494;1473;1460;1439;1413;90	ENSP00000363840:R1434C;ENSP00000339915:R1520C;ENSP00000350079:R1499C;ENSP00000363846:R1494C;ENSP00000363845:R1473C;ENSP00000378623:R1460C;ENSP00000363844:R1439C;ENSP00000355123:R1413C	ENSP00000339915:R1520C	R	-	1	0	COL11A2	33241496	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	3.085000	0.50151	1.010000	0.39314	0.551000	0.68910	CGT		0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
SCUBE3	222663	broad.mit.edu	37	6	35211389	35211389	+	Missense_Mutation	SNP	C	C	T	rs531556751	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:35211389C>T	ENST00000274938.7	+	16	1928	c.1928C>T	c.(1927-1929)aCg>aTg	p.T643M	SCUBE3_ENST00000394681.1_Missense_Mutation_p.T659M	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.T643M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCGCAGGGAACGTATTACCAC	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15333	0.0		0.001	False		,,,				2504	0.0				p.T643M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1928T	6						.						37.0	34.0	35.0					6																	35211389		2203	4300	6503	35319367	SO:0001583	missense	222663	exon16			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1928C>T	6.37:g.35211389C>T	ENSP00000274938:p.Thr643Met	Somatic		Capture	Illumina HiSeq	Phase_I	35319367	NM_152753		Missense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500117	0.85176	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.31510	1.49;1.49	5.43	5.43	0.79202	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.163613	0.56097	D	0.000031	T	0.53400	0.1794	M	0.86805	2.84	0.58432	D	0.999997	D;D	0.71674	0.997;0.998	P;P	0.60609	0.804;0.877	T	0.62877	-0.6761	10	0.87932	D	0	.	19.2451	0.93899	0.0:1.0:0.0:0.0	.	659;643	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	M	659;643	ENSP00000378174:T659M;ENSP00000274938:T643M	ENSP00000274938:T643M	T	+	2	0	SCUBE3	35319367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.089000	0.71384	2.564000	0.86499	0.650000	0.86243	ACG		0.667	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
DEF6	50619	broad.mit.edu	37	6	35287451	35287451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:35287451C>T	ENST00000316637.5	+	8	1371	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	DEF6_ENST00000542066.1_Nonsense_Mutation_p.R201*	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	456	Glu-rich.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R456*(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGAATCTGTGCGAATCGCTCA	0.592																																					p.R456X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1366T	6						.						65.0	67.0	67.0					6																	35287451		2203	4300	6503	35395429	SO:0001587	stop_gained	50619	exon8			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1366C>T	6.37:g.35287451C>T	ENSP00000319831:p.Arg456*	Somatic		Capture	Illumina HiSeq	Phase_I	35395429	NM_022047	Q86VF4	Nonsense_Mutation	SNP	ENST00000316637.5	37	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818677	0.90790	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5602	11.7902	0.52065	0.2933:0.7067:0.0:0.0	.	.	.	.	X	201;456	.	ENSP00000319831:R456X	R	+	1	2	DEF6	35395429	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.502000	0.53332	2.722000	0.93159	0.563000	0.77884	CGA		0.592	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047	
TULP1	7287	broad.mit.edu	37	6	35473867	35473867	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:35473867C>T	ENST00000229771.6	-	10	991	c.912G>A	c.(910-912)acG>acA	p.T304T	TULP1_ENST00000322263.4_Silent_p.T251T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	304					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.T304T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCAGCGCACCGTGCGGCCCT	0.677																																					p.T304T	GBM(55;1027 1091 11115 23439)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G912A	6						.						47.0	53.0	51.0					6																	35473867		2203	4299	6502	35581845	SO:0001819	synonymous_variant	7287	exon10			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.912G>A	6.37:g.35473867C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35581845	NM_003322	O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	CCDS4807.1																																																																																				0.677	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2		
FGD2	221472	broad.mit.edu	37	6	36979513	36979513	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:36979513G>A	ENST00000274963.8	+	4	581	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	137	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R137H(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AAGACAGCCCGCAGCAGCAAG	0.572																																					p.R137H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410A	6						.						135.0	110.0	119.0					6																	36979513		2203	4300	6503	37087491	SO:0001583	missense	221472	exon4			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.410G>A	6.37:g.36979513G>A	ENSP00000274963:p.Arg137His	Somatic		Capture	Illumina HiSeq	Phase_I	37087491	NM_173558	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370128	0.61624	.	.	ENSG00000146192	ENST00000274963	T	0.59772	0.24	5.69	4.82	0.62117	Dbl homology (DH) domain (5);	0.297719	0.24456	N	0.038366	T	0.52901	0.1763	M	0.78456	2.415	0.09310	N	1	D	0.63046	0.992	P	0.49597	0.616	T	0.54255	-0.8321	10	0.72032	D	0.01	-0.0016	11.7235	0.51696	0.1456:0.0:0.8544:0.0	.	137	Q7Z6J4	FGD2_HUMAN	H	137	ENSP00000274963:R137H	ENSP00000274963:R137H	R	+	2	0	FGD2	37087491	0.159000	0.22864	0.980000	0.43619	0.721000	0.41392	2.954000	0.49113	1.408000	0.46895	0.655000	0.94253	CGC		0.572	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558	
TSPO2	222642	broad.mit.edu	37	6	41011860	41011860	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:41011860C>T	ENST00000373161.1	+	4	742	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TSPO2_ENST00000470917.1_Missense_Mutation_p.T166M|TSPO2_ENST00000373158.2_3'UTR	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	166					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)	p.T166M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCTCAGCCCACGGAGAAGAGT	0.622																																					p.T166M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	6						.						83.0	58.0	67.0					6																	41011860		2203	4300	6503	41119838	SO:0001583	missense	222642	exon4				CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.497C>T	6.37:g.41011860C>T	ENSP00000362255:p.Thr166Met	Somatic		Capture	Illumina HiSeq	Phase_I	41119838	NM_001010873	B2RPR2|B7ZMN8|Q3SX82	Missense_Mutation	SNP	ENST00000373161.1	37	CCDS34444.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644426	0.29246	.	.	ENSG00000112212	ENST00000373161;ENST00000470917	T;T	0.44881	0.91;0.91	4.64	-6.81	0.01704	.	0.846999	0.10665	N	0.648275	T	0.03220	0.0094	N	0.02011	-0.69	0.09310	N	1	B	0.23185	0.081	B	0.10450	0.005	T	0.31724	-0.9933	10	0.46703	T	0.11	-6.1909	0.4223	0.00458	0.2132:0.2154:0.21:0.3615	.	166	Q5TGU0	TSPO2_HUMAN	M	166	ENSP00000362255:T166M;ENSP00000419985:T166M	ENSP00000362255:T166M	T	+	2	0	TSPO2	41119838	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	-1.682000	0.01935	-1.524000	0.01764	0.462000	0.41574	ACG		0.622	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040493.1	NM_001010873.2	
FOXP4	116113	broad.mit.edu	37	6	41557797	41557797	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:41557797G>A	ENST00000307972.4	+	10	1258	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	FOXP4_ENST00000373063.3_Missense_Mutation_p.A403T|FOXP4_ENST00000373060.1_Missense_Mutation_p.A416T|FOXP4_ENST00000409208.1_Missense_Mutation_p.A404T|FOXP4_ENST00000373057.3_Missense_Mutation_p.A414T			Q8IVH2	FOXP4_HUMAN	forkhead box P4	416					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A403T(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GACCTCGGCCGCAGCCCCTGT	0.672																																					p.A416T												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G1246A	6						.						32.0	35.0	34.0					6																	41557797		2202	4300	6502	41665775	SO:0001583	missense	116113	exon11			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1246G>A	6.37:g.41557797G>A	ENSP00000309823:p.Ala416Thr	Somatic		Capture	Illumina HiSeq	Phase_I	41665775	NM_001012426	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	G	2.788	-0.252010	0.05829	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	D;D;D;D;D	0.90197	-2.63;-2.6;-2.6;-2.63;-2.63	4.12	4.12	0.48240	.	0.135387	0.49916	D	0.000133	T	0.70945	0.3282	N	0.01576	-0.805	0.49798	D	0.999825	D;B;B	0.67145	0.996;0.011;0.008	P;B;B	0.53401	0.725;0.005;0.003	T	0.75720	-0.3219	10	0.32370	T	0.25	.	5.7433	0.18106	0.2678:0.0:0.7322:0.0	.	403;414;416	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	T	416;403;404;414;416	ENSP00000362151:A416T;ENSP00000362154:A403T;ENSP00000386958:A404T;ENSP00000362148:A414T;ENSP00000309823:A416T	ENSP00000309823:A416T	A	+	1	0	FOXP4	41665775	1.000000	0.71417	0.701000	0.30321	0.692000	0.40212	4.127000	0.57944	2.033000	0.60031	0.455000	0.32223	GCA		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457	
TTBK1	84630	broad.mit.edu	37	6	43222851	43222851	+	Splice_Site	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:43222851G>A	ENST00000259750.4	+	7	724	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	TTBK1_ENST00000304139.5_Splice_Site_p.R163Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R214Q(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CACAAGAACCGGGTGAGTGGC	0.632																																					p.R214Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G641A	6						.						85.0	69.0	74.0					6																	43222851		2203	4300	6503	43330829	SO:0001630	splice_region_variant	84630	exon7			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.642+1G>A	6.37:g.43222851G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43330829	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816459	0.50527	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.06218	3.33	3.98	3.98	0.46160	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.257195	0.38326	N	0.001727	T	0.03095	0.0091	L	0.35542	1.07	0.46028	D	0.998828	P	0.42456	0.78	B	0.39531	0.302	T	0.51387	-0.8712	10	0.49607	T	0.09	.	15.0149	0.71576	0.0:0.0:1.0:0.0	.	214	Q5TCY1	TTBK1_HUMAN	Q	163;214;163	ENSP00000259750:R214Q	ENSP00000259750:R214Q	R	+	2	0	TTBK1	43330829	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.642000	0.74329	2.066000	0.61787	0.655000	0.94253	CGG		0.632	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		Missense_Mutation
PGK2	5232	broad.mit.edu	37	6	49753713	49753713	+	Silent	SNP	G	G	A	rs199596449		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:49753713G>A	ENST00000304801.3	-	1	1340	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	396				G -> R (in Ref. 1; CAA28872). {ECO:0000305}.	glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.G396G(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GACTGGCACCGCCTCCAGTGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19987	0.0		0.001	False		,,,				2504	0.0				p.G396G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1188T	6						.	G		0,4406		0,0,2203	104.0	101.0	102.0		1188	-8.4	0.7	6		102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PGK2	NM_138733.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		396/418	49753713	2,13004	2203	4300	6503	49861672	SO:0001819	synonymous_variant	5232	exon1			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1188C>T	6.37:g.49753713G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49861672	NM_138733	B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	CCDS4930.1																																																																																				0.483	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
PGK2	5232	broad.mit.edu	37	6	49754591	49754591	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:49754591C>A	ENST00000304801.3	-	1	462	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	104					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.V104L(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTTTCTCCACTTCTGCGCCT	0.532																																					p.V104L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310T	6						.						120.0	113.0	115.0					6																	49754591		2203	4300	6503	49862550	SO:0001583	missense	5232	exon1			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.310G>T	6.37:g.49754591C>A	ENSP00000305995:p.Val104Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49862550	NM_138733	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850334	0.32699	.	.	ENSG00000170950	ENST00000304801	D	0.92149	-2.98	4.09	3.22	0.36961	Phosphoglycerate kinase, N-terminal (1);	0.055817	0.64402	D	0.000001	D	0.90205	0.6938	M	0.83118	2.625	0.54753	D	0.999986	B	0.25169	0.119	B	0.37451	0.25	D	0.90737	0.4647	10	0.87932	D	0	-14.052	9.8531	0.41068	0.0:0.8971:0.0:0.1029	.	104	P07205	PGK2_HUMAN	L	104	ENSP00000305995:V104L	ENSP00000305995:V104L	V	-	1	0	PGK2	49862550	1.000000	0.71417	0.986000	0.45419	0.196000	0.23810	5.367000	0.66127	1.300000	0.44818	0.585000	0.79938	GTG		0.532	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
TFAP2D	83741	broad.mit.edu	37	6	50683211	50683211	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:50683211G>A	ENST00000008391.3	+	2	650	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.R141H(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GATGCCTACCGCCGCCATGAC	0.652																																					p.R141H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G422A	6						.						56.0	60.0	58.0					6																	50683211		2203	4296	6499	50791170	SO:0001583	missense	83741	exon2			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.422G>A	6.37:g.50683211G>A	ENSP00000008391:p.Arg141His	Somatic		Capture	Illumina HiSeq	Phase_I	50791170	NM_172238		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198839	0.58126	.	.	ENSG00000008197	ENST00000008391	D	0.97811	-4.55	5.06	5.06	0.68205	.	0.112791	0.64402	D	0.000008	D	0.96250	0.8777	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	D	0.98619	1.0666	10	0.87932	D	0	-19.7318	18.8042	0.92030	0.0:0.0:1.0:0.0	.	141	Q7Z6R9	AP2D_HUMAN	H	141	ENSP00000008391:R141H	ENSP00000008391:R141H	R	+	2	0	TFAP2D	50791170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.518000	0.98022	2.509000	0.84616	0.655000	0.94253	CGC		0.652	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
TFAP2B	7021	broad.mit.edu	37	6	50796392	50796392	+	Splice_Site	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:50796392G>T	ENST00000393655.3	+	3	770	c.601G>T	c.(601-603)Gtt>Ttt	p.V201F	TFAP2B_ENST00000263046.4_Splice_Site_p.V210F	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	201					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V201F(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CATTAAAAAAGGTATGGATAA	0.348																																					p.V201F	Pancreas(116;1373 2332 5475 10752)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G601T	6						.						111.0	112.0	112.0					6																	50796392		2203	4300	6503	50904351	SO:0001630	splice_region_variant	7021	exon3			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.601+1G>T	6.37:g.50796392G>T		Somatic		Capture	Illumina HiSeq	Phase_I	50904351	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742068	0.30865	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97575	-4.44;-4.44	5.68	5.68	0.88126	.	0.117523	0.56097	D	0.000026	D	0.97318	0.9123	M	0.65975	2.015	0.80722	D	1	D	0.61697	0.99	D	0.67900	0.954	D	0.95763	0.8802	10	0.09843	T	0.71	-1.9748	19.7959	0.96481	0.0:0.0:1.0:0.0	.	201	Q92481	AP2B_HUMAN	F	201;210	ENSP00000377265:V201F;ENSP00000263046:V210F	ENSP00000263046:V210F	V	+	1	0	TFAP2B	50904351	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.361000	0.97122	2.689000	0.91719	0.655000	0.94253	GTT		0.348	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	Missense_Mutation
DST	667	broad.mit.edu	37	6	56462678	56462678	+	Missense_Mutation	SNP	C	C	T	rs540399392		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:56462678C>T	ENST00000361203.3	-	43	11429	c.11422G>A	c.(11422-11424)Ggg>Agg	p.G3808R	DST_ENST00000421834.2_Missense_Mutation_p.G1722R|DST_ENST00000370769.4_Missense_Mutation_p.G3810R|DST_ENST00000446842.2_Missense_Mutation_p.G3484R|DST_ENST00000370788.2_Missense_Mutation_p.G1722R|DST_ENST00000312431.6_Missense_Mutation_p.G3808R|DST_ENST00000370754.5_Missense_Mutation_p.G3988R|DST_ENST00000244364.6_Missense_Mutation_p.G1396R			Q03001	DYST_HUMAN	dystonin	3808					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.G1396R(1)|p.G3810R(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAATGGGTCCCGTTCTGTTCG	0.428													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18882	0.0		0.0	False		,,,				2504	0.0				p.G1396R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4186A	6						.						231.0	214.0	219.0					6																	56462678		1962	4155	6117	56570637	SO:0001583	missense	667	exon28			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11422G>A	6.37:g.56462678C>T	ENSP00000354508:p.Gly3808Arg	Somatic		Capture	Illumina HiSeq	Phase_I	56570637	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	14.85	2.657151	0.47467	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.84223	1.09;-0.18;-0.19;0.05;0.74;-1.82;-0.01;-0.28	5.77	5.77	0.91146	.	0.000000	0.52532	D	0.000065	D	0.89532	0.6742	M	0.76002	2.32	0.29577	N	0.849423	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;P	0.97110	0.999;0.997;1.0;0.999;0.9	D	0.84563	0.0651	9	0.08837	T	0.75	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	1722;3810;3988;3808;1396	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	1396;3988;3810;1722;3484;3808;1722;3808	ENSP00000244364:G1396R;ENSP00000359790:G3988R;ENSP00000359805:G3810R;ENSP00000400883:G1722R;ENSP00000393645:G3484R;ENSP00000307959:G3808R;ENSP00000359824:G1722R;ENSP00000354508:G3808R	ENSP00000244364:G1396R	G	-	1	0	DST	56570637	1.000000	0.71417	0.973000	0.42090	0.020000	0.10135	7.406000	0.80017	2.890000	0.99128	0.650000	0.86243	GGG		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
BAI3	577	broad.mit.edu	37	6	70034837	70034837	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:70034837C>G	ENST00000370598.1	+	21	3709	c.2888C>G	c.(2887-2889)gCg>gGg	p.A963G	BAI3_ENST00000238918.8_Missense_Mutation_p.A169G	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	963					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A963V(1)|p.A963G(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGACTGAGGCGTGGCAATCA	0.403																																					p.A963G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2888G	6						.						182.0	171.0	175.0					6																	70034837		2203	4300	6503	70091558	SO:0001583	missense	577	exon21			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2888C>G	6.37:g.70034837C>G	ENSP00000359630:p.Ala963Gly	Somatic		Capture	Illumina HiSeq	Phase_I	70091558	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062253	0.76187	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55052	0.54;0.54	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	N	0.16037	0.36	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.997;0.994;0.999	T	0.22871	-1.0204	10	0.05436	T	0.98	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	169;963;963	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	G	963;169	ENSP00000359630:A963G;ENSP00000238918:A169G	ENSP00000238918:A169G	A	+	2	0	BAI3	70091558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.885000	0.99019	0.655000	0.94253	GCG		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
BAI3	577	broad.mit.edu	37	6	70065714	70065714	+	Splice_Site	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:70065714C>A	ENST00000370598.1	+	28	4378	c.3557C>A	c.(3556-3558)aCa>aAa	p.T1186K	BAI3_ENST00000238918.8_Splice_Site_p.T392K|BAI3_ENST00000546190.1_Splice_Site_p.T150K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1186					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T1186K(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGTTACAGACAGACTTTGAA	0.299																																					p.T1186K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3557A	6						.						114.0	125.0	121.0					6																	70065714		2203	4295	6498	70122435	SO:0001630	splice_region_variant	577	exon28			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3556-1C>A	6.37:g.70065714C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70122435	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924461	0.92319	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.54279	1.86;2.46;0.58	5.74	5.74	0.90152	.	0.098662	0.64402	D	0.000002	T	0.67401	0.2889	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.981;0.997	D;P	0.69824	0.966;0.84	T	0.65117	-0.6246	10	0.51188	T	0.08	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	392;1186	B7Z356;O60242	.;BAI3_HUMAN	K	1186;392;150	ENSP00000359630:T1186K;ENSP00000238918:T392K;ENSP00000441821:T150K	ENSP00000238918:T392K	T	+	2	0	BAI3	70122435	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.104000	0.77024	2.873000	0.98535	0.563000	0.77884	ACA		0.299	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Missense_Mutation
LMBRD1	55788	broad.mit.edu	37	6	70500291	70500291	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:70500291A>G	ENST00000370577.3	-	2	372	c.143T>C	c.(142-144)aTa>aCa	p.I48T	LMBRD1_ENST00000370570.1_5'UTR	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	48					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.I48T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AATTGCTGTTATGGTGGAGAC	0.353																																					p.I48T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T143C	6						.						122.0	130.0	127.0					6																	70500291		2203	4300	6503	70557012	SO:0001583	missense	55788	exon2			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.143T>C	6.37:g.70500291A>G	ENSP00000359609:p.Ile48Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70557012	NM_018368	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.450795	0.63290	.	.	ENSG00000168216	ENST00000370577	T	0.33438	1.41	5.93	5.93	0.95920	LMBR1-like membrane protein (1);	0.140149	0.64402	D	0.000007	T	0.16981	0.0408	L	0.37850	1.14	0.80722	D	1	B	0.18013	0.025	B	0.23716	0.048	T	0.03043	-1.1079	10	0.52906	T	0.07	-3.287	16.3766	0.83401	1.0:0.0:0.0:0.0	.	48	Q9NUN5	LMBD1_HUMAN	T	48	ENSP00000359609:I48T	ENSP00000359609:I48T	I	-	2	0	LMBRD1	70557012	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.919000	0.92770	2.263000	0.75096	0.533000	0.62120	ATA		0.353	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368	
RIMS1	22999	broad.mit.edu	37	6	72892067	72892067	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:72892067C>T	ENST00000521978.1	+	6	893	c.893C>T	c.(892-894)gCg>gTg	p.A298V	RIMS1_ENST00000264839.7_Missense_Mutation_p.A298V|RIMS1_ENST00000491071.2_Missense_Mutation_p.A298V|RIMS1_ENST00000518273.1_Missense_Mutation_p.A298V|RIMS1_ENST00000348717.5_Missense_Mutation_p.A298V|RIMS1_ENST00000517960.1_Missense_Mutation_p.A298V|RIMS1_ENST00000522291.1_Missense_Mutation_p.A298V|RIMS1_ENST00000520567.1_Missense_Mutation_p.A298V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	298					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.A298V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGACCTCAGCGCAGCCCGTG	0.582																																					p.A298V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C893T	6						.						33.0	39.0	37.0					6																	72892067		1886	4119	6005	72948788	SO:0001583	missense	22999	exon6			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.893C>T	6.37:g.72892067C>T	ENSP00000428417:p.Ala298Val	Somatic		Capture	Illumina HiSeq	Phase_I	72948788	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	7.096	0.573188	0.13623	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.14266	2.52;2.68;2.61;2.67;2.67;2.68;2.68;2.6	5.28	-8.01	0.01122	.	0.925876	0.08967	N	0.867774	T	0.01320	0.0043	N	0.03115	-0.41	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.46843	-0.9162	10	0.23891	T	0.37	-0.1044	11.8315	0.52299	0.0827:0.1915:0.0:0.7258	.	298	Q86UR5	RIMS1_HUMAN	V	298	ENSP00000430101:A298V;ENSP00000275037:A298V;ENSP00000264839:A298V;ENSP00000429959:A298V;ENSP00000430408:A298V;ENSP00000430502:A298V;ENSP00000430932:A298V;ENSP00000428417:A298V	ENSP00000264839:A298V	A	+	2	0	RIMS1	72948788	0.000000	0.05858	0.001000	0.08648	0.431000	0.31685	-0.825000	0.04433	-1.839000	0.01186	-0.379000	0.06801	GCG		0.582	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
COL12A1	1303	broad.mit.edu	37	6	75848543	75848543	+	Missense_Mutation	SNP	T	T	A	rs376586412		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:75848543T>A	ENST00000322507.8	-	28	5401	c.5092A>T	c.(5092-5094)Atg>Ttg	p.M1698L	COL12A1_ENST00000345356.6_Missense_Mutation_p.M534L|COL12A1_ENST00000416123.2_Missense_Mutation_p.M1698L|COL12A1_ENST00000483888.2_Missense_Mutation_p.M1698L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1698	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.M1698L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACTACCTCCATCTTATCTGAG	0.393																																					p.M1698L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5092T	6						.						118.0	113.0	114.0					6																	75848543		1848	4107	5955	75905263	SO:0001583	missense	1303	exon28			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5092A>T	6.37:g.75848543T>A	ENSP00000325146:p.Met1698Leu	Somatic		Capture	Illumina HiSeq	Phase_I	75905263	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.45|11.45	1.643557|1.643557	0.29246|0.29246	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.55413	.|0.52;0.52;0.52;0.52	5.95|5.95	4.77|4.77	0.60923|0.60923	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.342581	.|0.36101	.|N	.|0.002792	T|T	0.18923|0.18923	0.0454|0.0454	L|L	0.32530|0.32530	0.975|0.975	0.26311|0.26311	N|N	0.977822|0.977822	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.11060|0.11060	-1.0603|-1.0603	5|10	.|0.27082	.|T	.|0.32	.|.	8.5181|8.5181	0.33259|0.33259	0.0:0.0669:0.3321:0.601|0.0:0.0669:0.3321:0.601	.|.	.|534;1698	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	V|L	439|1698;1698;534;1698;1698	.|ENSP00000325146:M1698L;ENSP00000305147:M534L;ENSP00000412864:M1698L;ENSP00000421216:M1698L	.|ENSP00000325146:M1698L	D|M	-|-	2|1	0|0	COL12A1|COL12A1	75905263|75905263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	1.291000|1.291000	0.33330|0.33330	1.042000|1.042000	0.40150|0.40150	0.528000|0.528000	0.53228|0.53228	GAT|ATG		0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75861726	75861726	+	Missense_Mutation	SNP	C	C	T	rs191757914		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:75861726C>T	ENST00000322507.8	-	20	4166	c.3857G>A	c.(3856-3858)cGc>cAc	p.R1286H	COL12A1_ENST00000345356.6_Missense_Mutation_p.R122H|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1286H|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1286H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1286	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R1286H(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTTCTGTTGGCGAATGAAATT	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19648	0.0		0.0	False		,,,				2504	0.0				p.R1286H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3857A	6						.						160.0	155.0	157.0					6																	75861726		1931	4156	6087	75918446	SO:0001583	missense	1303	exon20			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3857G>A	6.37:g.75861726C>T	ENSP00000325146:p.Arg1286His	Somatic		Capture	Illumina HiSeq	Phase_I	75918446	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.48	1.652518	0.29336	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.74	4.88	0.63580	von Willebrand factor, type A (3);	0.184208	0.35708	N	0.003027	T	0.56140	0.1965	L	0.39514	1.22	0.32085	N	0.592648	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	T	0.40813	-0.9543	10	0.15066	T	0.55	.	8.134	0.31043	0.2557:0.6661:0.0:0.0782	.	122;1286	Q99715-2;Q99715	.;COCA1_HUMAN	H	1286;1286;122;1286;1286	ENSP00000325146:R1286H;ENSP00000305147:R122H;ENSP00000412864:R1286H;ENSP00000421216:R1286H	ENSP00000325146:R1286H	R	-	2	0	COL12A1	75918446	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.469000	0.53093	1.442000	0.47568	0.644000	0.83932	CGC		0.438	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
MYO6	4646	broad.mit.edu	37	6	76599858	76599858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:76599858delA	ENST00000369977.3	+	26	2882	c.2743delA	c.(2743-2745)aaafs	p.K917fs	MYO6_ENST00000369981.3_Frame_Shift_Del_p.K917fs|MYO6_ENST00000369985.4_Frame_Shift_Del_p.K917fs|MYO6_ENST00000369975.1_Frame_Shift_Del_p.K917fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	917					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGCATTACAGAAAAAAAAACA	0.383																																					p.K915fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2743delA	6						.						82.0	88.0	86.0					6																	76599858		2203	4300	6503	76656578	SO:0001589	frameshift_variant	4646	exon26			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2743delA	6.37:g.76599858delA	ENSP00000358994:p.Lys917fs	Somatic		Capture	Illumina HiSeq	Phase_I	76656578	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Del	DEL	ENST00000369977.3	37	CCDS34487.1																																																																																				0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
TPBG	7162	broad.mit.edu	37	6	83074897	83074898	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	CA	CA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:83074897_83074898delCA	ENST00000369750.3	+	2	836_837	c.219_220delCA	c.(217-222)cgcacafs	p.T74fs	TPBG_ENST00000543496.1_Frame_Shift_Del_p.T74fs|TPBG_ENST00000535040.1_Frame_Shift_Del_p.T74fs			Q13641	TPBG_HUMAN	trophoblast glycoprotein	74	LRRNT.				cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.T74fs*5(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		AGGCAGCGCGCACAGTCAAGTG	0.698																																					p.73_74del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.219_220del	6						.																																			83131617	SO:0001589	frameshift_variant	7162	exon2			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.219_220delCA	6.37:g.83074899_83074900delCA	ENSP00000358765:p.Thr74fs	Somatic		Capture	Illumina HiSeq	Phase_I	83131616	NM_001166392	A8K555	Frame_Shift_Del	DEL	ENST00000369750.3	37	CCDS4995.1																																																																																				0.698	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1		
SNX14	57231	broad.mit.edu	37	6	86227500	86227500	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:86227500T>C	ENST00000314673.3	-	23	2418	c.2242A>G	c.(2242-2244)Agc>Ggc	p.S748G	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.S467G|SNX14_ENST00000505648.1_Missense_Mutation_p.S696G|SNX14_ENST00000369627.2_Missense_Mutation_p.S739G|SNX14_ENST00000346348.3_Missense_Mutation_p.S695G	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	748					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.S748G(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GAAGTAGGGCTGAGAATGGTC	0.373																																					p.S695G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2083G	6						.						193.0	187.0	189.0					6																	86227500		2203	4300	6503	86284219	SO:0001583	missense	57231	exon20			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2242A>G	6.37:g.86227500T>C	ENSP00000313121:p.Ser748Gly	Somatic		Capture	Illumina HiSeq	Phase_I	86284219	NM_020468	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409036	0.83340	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.35236	1.76;1.71;1.32;1.73;1.7;1.72	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.47716	1.5	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.996;0.997;0.999	D;P;D;D	0.76071	0.982;0.845;0.937;0.987	T	0.14587	-1.0467	10	0.13470	T	0.59	-9.1725	14.9504	0.71067	0.0:0.0:0.0:1.0	.	739;695;748;696	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	G	695;205;748;467;696;739;666;113	ENSP00000257769:S695G;ENSP00000313121:S748G;ENSP00000420938:S467G;ENSP00000427380:S696G;ENSP00000358641:S739G;ENSP00000425630:S666G	ENSP00000313121:S748G	S	-	1	0	SNX14	86284219	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.655000	0.83696	1.999000	0.58509	0.454000	0.30748	AGC		0.373	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	
ZNF292	23036	broad.mit.edu	37	6	87969484	87969484	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:87969484delA	ENST00000369577.3	+	8	6180	c.6137delA	c.(6136-6138)gaafs	p.E2046fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E2041fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2046						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S2049fs*11(1)|p.S1904fs*11(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAACTTGTAGAAAAAAAAAGT	0.358																																					p.E2046fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.6137delA	6						.						28.0	26.0	26.0					6																	87969484		1797	4058	5855	88026203	SO:0001589	frameshift_variant	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6137delA	6.37:g.87969484delA	ENSP00000358590:p.Glu2046fs	Somatic		Capture	Illumina HiSeq	Phase_I	88026203	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	CCDS47457.1																																																																																				0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
MDN1	23195	broad.mit.edu	37	6	90415871	90415871	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:90415871G>A	ENST00000369393.3	-	53	8170	c.8055C>T	c.(8053-8055)gtC>gtT	p.V2685V	MDN1_ENST00000428876.1_Silent_p.V2685V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2685					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.V2685V(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGCAAGATTGACCACAATTT	0.418																																					p.V2685V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8055T	6						.						91.0	85.0	87.0					6																	90415871		2203	4300	6503	90472592	SO:0001819	synonymous_variant	23195	exon53			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8055C>T	6.37:g.90415871G>A		Somatic		Capture	Illumina HiSeq	Phase_I	90472592	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.418	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90422466	90422466	+	Nonsense_Mutation	SNP	G	G	A	rs187636155	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:90422466G>A	ENST00000369393.3	-	48	7373	c.7258C>T	c.(7258-7260)Cga>Tga	p.R2420*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.R2420*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2420					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R2420*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATGTGCTCGCAAAGAAGAA	0.453																																					p.R2420X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7258T	6						.						67.0	64.0	65.0					6																	90422466		2203	4300	6503	90479187	SO:0001587	stop_gained	23195	exon48			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7258C>T	6.37:g.90422466G>A	ENSP00000358400:p.Arg2420*	Somatic		Capture	Illumina HiSeq	Phase_I	90479187	NM_014611	O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	46	12.489094	0.99672	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.62	-1.64	0.08318	.	1.628850	0.03584	N	0.230613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	4.2383	0.10637	0.0756:0.2136:0.2091:0.5018	.	.	.	.	X	2420	.	ENSP00000358400:R2420X	R	-	1	2	MDN1	90479187	0.001000	0.12720	0.001000	0.08648	0.398000	0.30690	0.016000	0.13377	0.006000	0.14734	-0.518000	0.04402	CGA		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90424382	90424382	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:90424382C>A	ENST00000369393.3	-	46	7064	c.6949G>T	c.(6949-6951)Gat>Tat	p.D2317Y	MDN1_ENST00000428876.1_Missense_Mutation_p.D2317Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2317					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.D2317Y(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGCTTGCATCCCCTTCCCCT	0.463																																					p.D2317Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6949T	6						.						143.0	118.0	127.0					6																	90424382		2203	4300	6503	90481103	SO:0001583	missense	23195	exon46			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6949G>T	6.37:g.90424382C>A	ENSP00000358400:p.Asp2317Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	90481103	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	5.574	0.290710	0.10567	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03635	3.86;3.86	5.15	3.34	0.38264	.	0.299857	0.35436	N	0.003219	T	0.01627	0.0052	L	0.47716	1.5	0.45108	D	0.998126	B	0.32051	0.354	B	0.25987	0.065	T	0.50575	-0.8812	10	0.45353	T	0.12	.	10.7196	0.46032	0.0:0.7863:0.0:0.2137	.	2317	Q9NU22	MDN1_HUMAN	Y	2317	ENSP00000358400:D2317Y;ENSP00000413970:D2317Y	ENSP00000358400:D2317Y	D	-	1	0	MDN1	90481103	0.992000	0.36948	0.135000	0.22099	0.047000	0.14425	3.052000	0.49893	1.311000	0.45024	0.637000	0.83480	GAT		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MICAL1	64780	broad.mit.edu	37	6	109767944	109767944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:109767944delC	ENST00000358807.3	-	18	2570	c.2259delG	c.(2257-2259)cagfs	p.Q753fs	MICAL1_ENST00000358577.3_Frame_Shift_Del_p.Q667fs|MICAL1_ENST00000368952.4_Frame_Shift_Del_p.Q772fs	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	753	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.T754fs*150(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGTGGTCTGTCTGGGGCAGGT	0.562																																					p.Q667fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2001delG	6						.						69.0	62.0	64.0					6																	109767944		2203	4300	6503	109874637	SO:0001589	frameshift_variant	64780	exon17			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2259delG	6.37:g.109767944delC	ENSP00000351664:p.Gln753fs	Somatic		Capture	Illumina HiSeq	Phase_I	109874637	NM_001159291	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Frame_Shift_Del	DEL	ENST00000358807.3	37	CCDS5076.1																																																																																				0.562	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aaafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413																																					p.K115fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.343delA	6						.						112.0	108.0	109.0					6																	139097330		2203	4300	6503	139139023	SO:0001589	frameshift_variant	25901	exon2			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.343delA	6.37:g.139097330delA	ENSP00000332716:p.Lys116fs	Somatic		Capture	Illumina HiSeq	Phase_I	139139023	NM_015439	E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Frame_Shift_Del	DEL	ENST00000332797.6	37	CCDS5192.1																																																																																				0.413	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439	
FBXO5	26271	broad.mit.edu	37	6	153293482	153293482	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:153293482delT	ENST00000229758.3	-	4	1075	c.1017delA	c.(1015-1017)aaafs	p.K339fs	FBXO5_ENST00000367241.3_Frame_Shift_Del_p.K293fs|FBXO5_ENST00000477822.1_5'UTR	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	339					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.D340fs*30(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TTTGAGCATCTTTTTTGAGAG	0.368																																					p.K339fs	NSCLC(121;372 1757 17721 17977 29669)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1017delA	6						.						122.0	119.0	120.0					6																	153293482		2203	4300	6503	153335175	SO:0001589	frameshift_variant	26271	exon4			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1017delA	6.37:g.153293482delT	ENSP00000229758:p.Lys339fs	Somatic		Capture	Illumina HiSeq	Phase_I	153335175	NM_012177	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Frame_Shift_Del	DEL	ENST00000229758.3	37	CCDS5242.1																																																																																				0.368	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1		
RPS6KA2	6196	broad.mit.edu	37	6	166902391	166902391	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr6:166902391C>T	ENST00000265678.4	-	10	1060	c.837G>A	c.(835-837)ccG>ccA	p.P279P	RPS6KA2_ENST00000510118.1_Silent_p.P304P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000503859.1_Silent_p.P287P	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537																																					p.P279P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G837A	6						.						46.0	45.0	46.0					6																	166902391		2203	4300	6503	166822381	SO:0001819	synonymous_variant	6196	exon10			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.837G>A	6.37:g.166902391C>T		Somatic		Capture	Illumina HiSeq	Phase_I	166822381	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																				0.537	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
SSPO	23145	broad.mit.edu	37	7	149474082	149474083	+	RNA	INS	-	-	G	rs529229055		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:149474082_149474083insG	ENST00000378016.2	+	0	292_293							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCCCAGGCTGGGGGGGCGCC	0.624																																					p.W98fs												.	.	0			c.292_293insG	7						.																																			149105016			23145	exon3			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474089_149474089dupG		Somatic		Capture	Illumina HiSeq	Phase_I	149105015	NM_198455	Q76B61	Frame_Shift_Ins	INS	ENST00000378016.2	37																																																																																					0.624	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
CUX1	1523	broad.mit.edu	37	7	101877397	101877397	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:101877397C>T	ENST00000292535.7	+	22	3537	c.3499C>T	c.(3499-3501)Cgc>Tgc	p.R1167C	CUX1_ENST00000556210.1_Missense_Mutation_p.R1009C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.R1111C|CUX1_ENST00000360264.3_Missense_Mutation_p.R1178C|CUX1_ENST00000549414.2_Missense_Mutation_p.R1145C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R1065C	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1167					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R1167C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTCCTTGCCCGCCCCAAACC	0.547																																					p.R1167C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3499T	7						.						101.0	95.0	97.0					7																	101877397		2203	4300	6503	101664117	SO:0001583	missense	1523	exon22			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3499C>T	7.37:g.101877397C>T	ENSP00000292535:p.Arg1167Cys	Somatic		Capture	Illumina HiSeq	Phase_I	101664117	NM_181552	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204043	0.79127	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.63580	-0.04;-0.03;-0.04;-0.04;-0.05;-0.04	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.80921	-0.1166	10	0.87932	D	0	-17.6014	19.0082	0.92861	0.0:1.0:0.0:0.0	.	1167;1178	P39880;P39880-3	CUX1_HUMAN;.	C	1178;1167;1145;1111;1065;1009	ENSP00000353401:R1178C;ENSP00000292535:R1167C;ENSP00000446630:R1145C;ENSP00000447373:R1111C;ENSP00000450125:R1065C;ENSP00000451558:R1009C	ENSP00000292535:R1167C	R	+	1	0	CUX1	101664117	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.879000	0.63100	2.486000	0.83907	0.655000	0.94253	CGC		0.547	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
FLNC	2318	broad.mit.edu	37	7	128493809	128493810	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:128493809_128493810GA>TG	ENST00000325888.8	+	39	6663_6664	c.6402_6403GA>TG	c.(6400-6405)atGAag>atTGag	p.2134_2135MK>IE	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.2101_2102MK>IE	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2134			K -> R (in dbSNP:rs1063261). {ECO:0000269|PubMed:10658210}.		cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.M2134>?(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGGCCGCATGAAGGAGAGCAT	0.634																																					.												.	.	1	Complex(1)	large_intestine(1)	c.6402_6403TG	7						.																																			128281046	SO:0001583	missense	2318	exon39			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	Exception_encountered	7.37:g.128493809_128493810delinsTG	ENSP00000327145:p.M2134_K2135delinsIE	Somatic		Capture	Illumina HiSeq	Phase_I	128281045	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	DNP	ENST00000325888.8	37	CCDS43644.1																																																																																				0.634	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
WDR91	29062	broad.mit.edu	37	7	134894382	134894382	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:134894382T>C	ENST00000354475.4	-	2	280	c.249A>G	c.(247-249)acA>acG	p.T83T	WDR91_ENST00000423565.1_Silent_p.T48T|WDR91_ENST00000344400.5_Silent_p.T83T|WDR91_ENST00000485942.1_5'Flank	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	83								p.T83T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCTTGTGGATTGTGGGTCTGT	0.498																																					p.T83T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A249G	7						.						111.0	109.0	110.0					7																	134894382		2203	4300	6503	134544922	SO:0001819	synonymous_variant	29062	exon2			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.249A>G	7.37:g.134894382T>C		Somatic		Capture	Illumina HiSeq	Phase_I	134544922	NM_014149	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	CCDS34758.1																																																																																				0.498	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
NUP205	23165	broad.mit.edu	37	7	135304355	135304355	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:135304355A>G	ENST00000285968.6	+	29	4174	c.4148A>G	c.(4147-4149)aAc>aGc	p.N1383S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1383					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.N1383S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCTGAAGAGAACCCATTAGTG	0.398																																					p.N1383S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4148G	7						.						73.0	69.0	70.0					7																	135304355		2203	4300	6503	134954895	SO:0001583	missense	23165	exon29			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4148A>G	7.37:g.135304355A>G	ENSP00000285968:p.Asn1383Ser	Somatic		Capture	Illumina HiSeq	Phase_I	134954895	NM_015135	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	0.270	-0.993851	0.02145	.	.	ENSG00000155561	ENST00000285968	T	0.27402	1.67	5.67	-2.74	0.05932	.	0.451403	0.26032	N	0.026757	T	0.08447	0.0210	N	0.01705	-0.755	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	10	0.09084	T	0.74	-33.5279	9.5322	0.39200	0.2348:0.1068:0.6584:0.0	.	1383	Q92621	NU205_HUMAN	S	1383	ENSP00000285968:N1383S	ENSP00000285968:N1383S	N	+	2	0	NUP205	134954895	0.150000	0.22732	0.002000	0.10522	0.420000	0.31355	-0.054000	0.11826	-0.448000	0.07128	0.397000	0.26171	AAC		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
PTN	5764	broad.mit.edu	37	7	136935990	136935990	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:136935990C>A	ENST00000348225.2	-	4	865	c.438G>T	c.(436-438)aaG>aaT	p.K146N	PTN_ENST00000393083.2_Missense_Mutation_p.K146N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	146					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.K146N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GAGGTTTGGGCTTGGTCAGTT	0.473																																					p.K146N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	7						.						255.0	235.0	242.0					7																	136935990		2203	4300	6503	136586530	SO:0001583	missense	5764	exon4			M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.438G>T	7.37:g.136935990C>A	ENSP00000341170:p.Lys146Asn	Somatic		Capture	Illumina HiSeq	Phase_I	136586530	NM_002825	Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573139	0.45902	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	6.02	5.04	0.67666	Midkine heparin-binding growth factor, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	L	0.45352	1.415	0.40117	D	0.976555	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.65977	-0.6037	9	0.59425	D	0.04	-15.7326	7.3139	0.26489	0.0:0.8196:0.0:0.1804	.	146;146	C9JR52;P21246	.;PTN_HUMAN	N	146	.	ENSP00000341170:K146N	K	-	3	2	PTN	136586530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.783000	0.47766	2.857000	0.98124	0.650000	0.86243	AAG		0.473	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825	
KIAA1549	57670	broad.mit.edu	37	7	138579115	138579115	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:138579115A>G	ENST00000422774.1	-	10	4053	c.4005T>C	c.(4003-4005)acT>acC	p.T1335T	KIAA1549_ENST00000242365.4_Silent_p.T1285T|KIAA1549_ENST00000440172.1_Silent_p.T1335T			Q9HCM3	K1549_HUMAN	KIAA1549	1335						integral component of membrane (GO:0016021)		p.T1335T(1)|p.T1285T(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTTGGCCACAGTGTCAGGCT	0.527			O	BRAF	pilocytic astrocytoma																																p.T1335T	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T4005C	7						.						159.0	152.0	154.0					7																	138579115		2127	4231	6358	138229655	SO:0001819	synonymous_variant	57670	exon10				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4005T>C	7.37:g.138579115A>G		Somatic		Capture	Illumina HiSeq	Phase_I	138229655	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	CCDS56513.1																																																																																				0.527	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0 	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu	Somatic		Capture	Illumina HiSeq	Phase_I	140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
MGAM	8972	broad.mit.edu	37	7	141719015	141719015	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:141719015G>A	ENST00000549489.2	+	4	439	c.344G>A	c.(343-345)cGt>cAt	p.R115H	MGAM_ENST00000475668.2_Missense_Mutation_p.R115H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	115	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R115H(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGACCAACGTGGCTGTTGC	0.428																																					p.R115H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G344A	7						.						124.0	125.0	125.0					7																	141719015		1906	4128	6034	141365484	SO:0001583	missense	8972	exon4			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.344G>A	7.37:g.141719015G>A	ENSP00000447378:p.Arg115His	Somatic		Capture	Illumina HiSeq	Phase_I	141365484	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653121	0.88056	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;T;T	0.60424	0.19;0.19;0.19	4.85	4.85	0.62838	P-type trefoil, conserved site (1);Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.000000	0.48286	D	0.000198	T	0.77928	0.4204	M	0.86651	2.83	0.43919	D	0.996561	D	0.89917	1.0	D	0.66716	0.946	T	0.81514	-0.0898	10	0.62326	D	0.03	.	15.847	0.78901	0.0:0.0:1.0:0.0	.	115	O43451	MGA_HUMAN	H	115	ENSP00000419372:R115H;ENSP00000447378:R115H;ENSP00000417103:R115H	ENSP00000373973:R115H	R	+	2	0	MGAM	141365484	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.635000	0.91006	2.682000	0.91365	0.514000	0.50259	CGT		0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
MGAM	8972	broad.mit.edu	37	7	141803233	141803233	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:141803233G>A	ENST00000549489.2	+	47	5585	c.5490G>A	c.(5488-5490)acG>acA	p.T1830T	MGAM_ENST00000475668.2_Silent_p.T2726T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1830					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.T1830T(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGACCCCACGACACAGGTTT	0.512																																					p.T1830T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5490A	7						.						63.0	61.0	62.0					7																	141803233		2019	4205	6224	141449702	SO:0001819	synonymous_variant	8972	exon47			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5490G>A	7.37:g.141803233G>A		Somatic		Capture	Illumina HiSeq	Phase_I	141449702	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
TRPV5	56302	broad.mit.edu	37	7	142626540	142626540	+	Missense_Mutation	SNP	C	C	T	rs387907544		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:142626540C>T	ENST00000265310.1	-	4	818	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TRPV5_ENST00000442623.1_Missense_Mutation_p.R157H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	157					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R157H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GATGAGGTTGCGGGGACTACG	0.627																																					p.R157H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470A	7						.						78.0	66.0	70.0					7																	142626540		2203	4300	6503	142336662	SO:0001583	missense	56302	exon4			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.470G>A	7.37:g.142626540C>T	ENSP00000265310:p.Arg157His	Somatic		Capture	Illumina HiSeq	Phase_I	142336662	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	5.848	0.340606	0.11069	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.52983	0.64;0.64;0.64	4.66	-5.16	0.02857	Ankyrin repeat-containing domain (4);	0.645248	0.17299	N	0.179328	T	0.19087	0.0458	N	0.05012	-0.13	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.003	T	0.08371	-1.0725	10	0.32370	T	0.25	-4.9421	7.0025	0.24817	0.0:0.3696:0.1197:0.5107	.	157;157	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	H	157;151;157	ENSP00000265310:R157H;ENSP00000406361:R151H;ENSP00000406572:R157H	ENSP00000265310:R157H	R	-	2	0	TRPV5	142336662	0.005000	0.15991	0.007000	0.13788	0.278000	0.26855	-0.200000	0.09478	-1.147000	0.02851	-0.471000	0.05019	CGC		0.627	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
KEL	3792	broad.mit.edu	37	7	142658913	142658913	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:142658913G>A	ENST00000355265.2	-	2	524	c.50C>T	c.(49-51)gCa>gTa	p.A17V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	17					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.A17V(1)|p.A17E(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATTCCACCTGCCTGGCTGCG	0.547																																					p.A17V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C50T	7						.						280.0	238.0	252.0					7																	142658913		2203	4300	6503	142369035	SO:0001583	missense	3792	exon2			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.50C>T	7.37:g.142658913G>A	ENSP00000347409:p.Ala17Val	Somatic		Capture	Illumina HiSeq	Phase_I	142369035	NM_000420	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664679	0.29604	.	.	ENSG00000197993	ENST00000355265;ENST00000476829	D;T	0.82619	-1.63;0.91	4.67	-0.861	0.10676	.	1.031460	0.07782	N	0.953499	T	0.60715	0.2290	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44065	-0.9352	10	0.25106	T	0.35	0.8706	1.7361	0.02942	0.1847:0.3108:0.3554:0.1491	.	17	P23276	KELL_HUMAN	V	17	ENSP00000347409:A17V;ENSP00000419889:A17V	ENSP00000347409:A17V	A	-	2	0	KEL	142369035	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.175000	0.16762	-0.051000	0.13334	0.650000	0.86243	GCA		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
PIP	5304	broad.mit.edu	37	7	142836630	142836630	+	Silent	SNP	C	C	T	rs367785031		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:142836630C>T	ENST00000291009.3	+	4	376	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	112					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.A112A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AAATTGCAGCCGTCGTTGATG	0.463																																					p.A112A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C336T	7						.	T		0,4406		0,0,2203	152.0	143.0	146.0		336	-8.1	0.0	7		146	2,8596	2.2+/-6.3	1,0,4298	no	coding-synonymous	PIP	NM_002652.2		1,0,6501	TT,TC,CC		0.0233,0.0,0.0154		112/147	142836630	2,13002	2203	4299	6502	142546752	SO:0001819	synonymous_variant	5304	exon4				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.336C>T	7.37:g.142836630C>T		Somatic		Capture	Illumina HiSeq	Phase_I	142546752	NM_002652	A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	ENST00000291009.3	37	CCDS34768.1																																																																																				0.463	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652	
ZNF777	27153	broad.mit.edu	37	7	149129813	149129813	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:149129813G>C	ENST00000247930.4	-	6	1873	c.1550C>G	c.(1549-1551)gCg>gGg	p.A517G		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	517					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.A517G(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACGGAGGGCGCCAGCCTTTT	0.711																																					p.A517G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1550G	7						.																																			148760746	SO:0001583	missense	27153	exon6			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1550C>G	7.37:g.149129813G>C	ENSP00000247930:p.Ala517Gly	Somatic		Capture	Illumina HiSeq	Phase_I	148760746	NM_015694	Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919934	0.17982	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05447	3.44	4.43	4.43	0.53597	.	0.529823	0.17299	N	0.179352	T	0.09512	0.0234	N	0.24115	0.695	0.30577	N	0.762938	D	0.67145	0.996	P	0.62184	0.899	T	0.08932	-1.0698	10	0.19590	T	0.45	-24.6238	8.2313	0.31599	0.1059:0.0:0.8941:0.0	.	517	Q9ULD5-2	.	G	517;260	ENSP00000247930:A517G	ENSP00000247930:A517G	A	-	2	0	ZNF777	148760746	1.000000	0.71417	0.995000	0.50966	0.238000	0.25445	3.374000	0.52402	2.299000	0.77371	0.460000	0.39030	GCG		0.711	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694	
TMEM176B	28959	broad.mit.edu	37	7	150493611	150493611	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:150493611C>T	ENST00000447204.2	-	2	419	c.47G>A	c.(46-48)aGg>aAg	p.R16K	TMEM176B_ENST00000450753.2_Missense_Mutation_p.R16K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R16K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R16K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R16K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R16K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	16					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R16K(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGATGGCCTAGAGGCCAT	0.527																																					p.R16K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G47A	7						.						91.0	82.0	85.0					7																	150493611		2203	4300	6503	150124544	SO:0001583	missense	28959	exon2			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.47G>A	7.37:g.150493611C>T	ENSP00000410269:p.Arg16Lys	Somatic		Capture	Illumina HiSeq	Phase_I	150124544	NM_001101312	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	2.180	-0.387777	0.04932	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.07567	3.33;3.33;3.33;3.33;3.33;3.18	4.92	-3.53	0.04667	.	1.414080	0.04787	N	0.430917	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.09377	0.002;0.004	T	0.37957	-0.9683	10	0.06625	T	0.88	8.1206	1.6162	0.02704	0.3483:0.3202:0.2104:0.121	.	16;16	E9PAV4;Q3YBM2	.;T176B_HUMAN	K	16	ENSP00000419258:R16K;ENSP00000318409:R16K;ENSP00000410269:R16K;ENSP00000413531:R16K;ENSP00000397810:R16K;ENSP00000404831:R16K	ENSP00000318409:R16K	R	-	2	0	TMEM176B	150124544	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.530000	0.06179	-0.327000	0.08551	-1.265000	0.01443	AGG		0.527	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020	
GALNT11	63917	broad.mit.edu	37	7	151800307	151800307	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:151800307G>A	ENST00000434507.1	+	6	967	c.530G>A	c.(529-531)cGc>cAc	p.R177H	GALNT11_ENST00000320311.2_Missense_Mutation_p.R177H|GALNT11_ENST00000452146.2_Missense_Mutation_p.R96H|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.R177H|GALNT11_ENST00000415421.1_Missense_Mutation_p.R177H			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	177	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R177H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GTCATAGACCGCACGCCAGCA	0.483																																					p.R177H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	7						.						178.0	138.0	152.0					7																	151800307		2203	4300	6503	151431240	SO:0001583	missense	63917	exon4			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.530G>A	7.37:g.151800307G>A	ENSP00000416787:p.Arg177His	Somatic		Capture	Illumina HiSeq	Phase_I	151431240	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046020	0.93685	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.0	5.0	0.66597	Glycosyl transferase, family 2 (1);	0.064431	0.64402	D	0.000008	T	0.78117	0.4233	M	0.84326	2.69	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;P;D	0.69479	0.964;0.882;0.964	T	0.82319	-0.0516	10	0.87932	D	0	.	18.3133	0.90208	0.0:0.0:1.0:0.0	.	96;177;177	B7Z5G5;Q8NCW6-2;Q8NCW6	.;.;GLT11_HUMAN	H	177;96;177;177;177;177;177	ENSP00000395122:R177H;ENSP00000393399:R96H;ENSP00000416787:R177H;ENSP00000410093:R177H;ENSP00000315835:R177H;ENSP00000397581:R177H	ENSP00000315835:R177H	R	+	2	0	GALNT11	151431240	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	7.833000	0.86765	2.313000	0.78055	0.655000	0.94253	CGC		0.483	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	
GALNT11	63917	broad.mit.edu	37	7	151805265	151805265	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:151805265C>T	ENST00000434507.1	+	8	1292	c.855C>T	c.(853-855)agC>agT	p.S285S	GALNT11_ENST00000320311.2_Silent_p.S285S|GALNT11_ENST00000452146.2_Silent_p.S204S|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Silent_p.S285S			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	285					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S285S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGGCCTACAGCTCGTCCCCTG	0.627																																					p.S285S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C855T	7						.						66.0	64.0	65.0					7																	151805265		2203	4300	6503	151436198	SO:0001819	synonymous_variant	63917	exon6			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.855C>T	7.37:g.151805265C>T		Somatic		Capture	Illumina HiSeq	Phase_I	151436198	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Silent	SNP	ENST00000434507.1	37	CCDS5930.1																																																																																				0.627	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	
SUN1	23353	broad.mit.edu	37	7	893231	893231	+	Silent	SNP	C	C	T	rs373058985		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:893231C>T	ENST00000405266.1	+	11	1374	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	SUN1_ENST00000413514.2_Intron|SUN1_ENST00000401592.1_Silent_p.D413D|SUN1_ENST00000389574.3_Silent_p.D330D|SUN1_ENST00000452783.2_Silent_p.D310D|SUN1_ENST00000425407.2_Silent_p.D330D|SUN1_ENST00000456758.2_Silent_p.D602D			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	440					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.D330D(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGTCAGAGACGCTGTGGGAC	0.637																																					p.D413D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1239T	7						.						22.0	26.0	25.0					7																	893231		1985	4169	6154	859757	SO:0001819	synonymous_variant	23353	exon10			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1350C>T	7.37:g.893231C>T		Somatic		Capture	Illumina HiSeq	Phase_I	859757	NM_001130965	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37		.	.	.	.	.	.	.	.	.	.	C	4.422	0.077956	0.08485	.	.	ENSG00000164828	ENST00000433212	.	.	.	4.76	-9.53	0.00575	.	.	.	.	.	T	0.30293	0.0760	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36529	-0.9744	4	.	.	.	0.0153	12.6306	0.56655	0.0:0.627:0.131:0.242	.	.	.	.	C	262	.	.	R	+	1	0	SUN1	859757	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.330000	0.02675	-2.589000	0.00457	-2.048000	0.00412	CGC		0.637	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	
INTS1	26173	broad.mit.edu	37	7	1519968	1519969	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:1519968_1519969delAG	ENST00000404767.3	-	30	4143_4144	c.4058_4059delCT	c.(4057-4059)gctfs	p.A1353fs	INTS1_ENST00000389470.4_Frame_Shift_Del_p.A1552fs	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1353					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.A1552fs*75(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGAACATGCCAGCCAGGTCGTC	0.678																																					p.1353_1353del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4058_4059del	7						.																																			1486495	SO:0001589	frameshift_variant	26173	exon30			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4058_4059delCT	7.37:g.1519968_1519969delAG	ENSP00000385722:p.Ala1353fs	Somatic		Capture	Illumina HiSeq	Phase_I	1486494	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Frame_Shift_Del	DEL	ENST00000404767.3	37	CCDS47526.1																																																																																				0.678	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
INTS1	26173	broad.mit.edu	37	7	1519976	1519976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:1519976delC	ENST00000404767.3	-	30	4136	c.4051delG	c.(4051-4053)gacfs	p.D1351fs	INTS1_ENST00000389470.4_Frame_Shift_Del_p.D1550fs	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1351					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.D1550fs*72(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCAGCCAGGTCGTCCTCAGGG	0.672																																					p.D1351fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4051delG	7						.						34.0	38.0	37.0					7																	1519976		2066	4180	6246	1486502	SO:0001589	frameshift_variant	26173	exon30			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4051delG	7.37:g.1519976delC	ENSP00000385722:p.Asp1351fs	Somatic		Capture	Illumina HiSeq	Phase_I	1486502	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Frame_Shift_Del	DEL	ENST00000404767.3	37	CCDS47526.1																																																																																				0.672	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
GNA12	2768	broad.mit.edu	37	7	2771145	2771145	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:2771145C>T	ENST00000275364.3	-	4	978	c.816G>A	c.(814-816)gaG>gaA	p.E272E	GNA12_ENST00000544127.1_Silent_p.E179E|GNA12_ENST00000407904.3_Silent_p.E213E|GNA12_ENST00000396960.3_Silent_p.E124E|GNA12_ENST00000407653.1_Silent_p.E196E|GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	272					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E272E(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGTTCATGGACTCCACCAGCC	0.542																																					p.E272E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G816A	7						.						137.0	107.0	117.0					7																	2771145		2203	4300	6503	2737671	SO:0001819	synonymous_variant	2768	exon4			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.816G>A	7.37:g.2771145C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2737671	NM_007353	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	ENST00000275364.3	37	CCDS5335.1																																																																																				0.542	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353	
MACC1	346389	broad.mit.edu	37	7	20198341	20198341	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:20198341A>G	ENST00000400331.5	-	5	1951	c.1643T>C	c.(1642-1644)tTg>tCg	p.L548S	MACC1_ENST00000589011.1_Missense_Mutation_p.L548S|MACC1_ENST00000332878.4_Missense_Mutation_p.L548S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	548					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L548S(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GCTAAAGTTCAATGTTTTATC	0.383																																					p.L548S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1643C	7						.						92.0	100.0	97.0					7																	20198341		2203	4300	6503	20164866	SO:0001583	missense	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1643T>C	7.37:g.20198341A>G	ENSP00000383185:p.Leu548Ser	Somatic		Capture	Illumina HiSeq	Phase_I	20164866	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.194294	0.58017	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.12672	2.66;2.66	5.93	5.93	0.95920	.	0.254294	0.39687	N	0.001290	T	0.28234	0.0697	M	0.69823	2.125	0.53688	D	0.999971	P	0.50066	0.931	P	0.49752	0.621	T	0.01675	-1.1298	10	0.87932	D	0	-1.1019	16.3766	0.83401	1.0:0.0:0.0:0.0	.	548	Q6ZN28	MACC1_HUMAN	S	548	ENSP00000383185:L548S;ENSP00000328410:L548S	ENSP00000328410:L548S	L	-	2	0	MACC1	20164866	1.000000	0.71417	0.917000	0.36280	0.649000	0.38597	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	TTG		0.383	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
NPY	4852	broad.mit.edu	37	7	24324976	24324976	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:24324976C>T	ENST00000407573.1	+	3	407	c.117C>T	c.(115-117)gaC>gaT	p.D39D	NPY_ENST00000242152.2_Silent_p.D39D|NPY_ENST00000405982.1_Silent_p.D39D			P01303	NPY_HUMAN	neuropeptide Y	39					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.D39D(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGGGCGAGGACGCACCAGCGG	0.682																																					p.D39D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	7						.						83.0	63.0	70.0					7																	24324976		2203	4300	6503	24291501	SO:0001819	synonymous_variant	4852	exon2			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.117C>T	7.37:g.24324976C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24291501	NM_000905		Silent	SNP	ENST00000407573.1	37	CCDS5387.1																																																																																				0.682	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905	
CREB5	9586	broad.mit.edu	37	7	28610021	28610021	+	Silent	SNP	G	G	A	rs537303404		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:28610021G>A	ENST00000357727.2	+	5	720	c.330G>A	c.(328-330)acG>acA	p.T110T	CREB5_ENST00000409603.1_Silent_p.T77T|CREB5_ENST00000396300.2_Silent_p.T103T|CREB5_ENST00000396299.2_Silent_p.T77T	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	110					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T110T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGGCCATGACGGGGCCCGGAA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19435	0.0		0.0	False		,,,				2504	0.0				p.T103T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G309A	7						.						90.0	85.0	87.0					7																	28610021		2203	4300	6503	28576546	SO:0001819	synonymous_variant	9586	exon5			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.330G>A	7.37:g.28610021G>A		Somatic		Capture	Illumina HiSeq	Phase_I	28576546	NM_004904	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	CCDS5417.1																																																																																				0.542	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	
ELMO1	9844	broad.mit.edu	37	7	36934500	36934500	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:36934500G>A	ENST00000310758.4	-	17	2207	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	ELMO1_ENST00000448602.1_Silent_p.S520S|ELMO1_ENST00000396045.3_Silent_p.S40S|ELMO1_ENST00000442504.1_Silent_p.S520S|ELMO1_ENST00000341056.3_Silent_p.S222S|ELMO1_ENST00000396040.2_Silent_p.S40S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	520					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.S520S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATCCTCTCGGACTGGCGGA	0.463																																					p.S40S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	7						.						168.0	152.0	157.0					7																	36934500		2203	4300	6503	36901025	SO:0001819	synonymous_variant	9844	exon2			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1560C>T	7.37:g.36934500G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36901025	NM_001039459	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	CCDS5449.1																																																																																				0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
NME8	51314	broad.mit.edu	37	7	37927896	37927896	+	Missense_Mutation	SNP	C	C	T	rs117675957	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:37927896C>T	ENST00000199447.4	+	15	1637	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.A422V	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	422	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.A422V(1)									GCACAGTTTGCGATGGACAGT	0.363													C|||	2	0.000399361	0.0	0.0	5008	,	,		18670	0.0		0.001	False		,,,				2504	0.001				p.A422V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1265T	7						.						94.0	92.0	93.0					7																	37927896		2203	4300	6503	37894421	SO:0001583	missense	51314	exon15			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1265C>T	7.37:g.37927896C>T	ENSP00000199447:p.Ala422Val	Somatic		Capture	Illumina HiSeq	Phase_I	37894421	NM_016616	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.39	3.108738	0.56291	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.59224	0.28;0.28	4.42	4.42	0.53409	.	0.858993	0.09863	N	0.745981	T	0.82208	0.4987	M	0.91717	3.235	0.45502	D	0.998463	D	0.89917	1.0	D	0.79784	0.993	T	0.82161	-0.0594	10	0.66056	D	0.02	-26.7532	17.0023	0.86384	0.0:1.0:0.0:0.0	.	422	Q8N427	TXND3_HUMAN	V	422	ENSP00000199447:A422V;ENSP00000397063:A422V	ENSP00000199447:A422V	A	+	2	0	TXNDC3	37894421	0.993000	0.37304	0.970000	0.41538	0.018000	0.09664	3.177000	0.50871	2.758000	0.94735	0.563000	0.77884	GCG		0.363	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
SFRP4	6424	broad.mit.edu	37	7	37955829	37955829	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:37955829G>A	ENST00000436072.2	-	1	688	c.311C>T	c.(310-312)gCg>gTg	p.A104V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	104	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A104V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTCGTCGCGCGCGCGTTGGCA	0.627																																					p.A104V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311T	7						.						58.0	50.0	53.0					7																	37955829		2203	4300	6503	37922354	SO:0001583	missense	6424	exon1			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.311C>T	7.37:g.37955829G>A	ENSP00000410715:p.Ala104Val	Somatic		Capture	Illumina HiSeq	Phase_I	37922354	NM_003014	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307179	0.81247	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.78003	-1.14	4.28	4.28	0.50868	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	L	0.28344	0.845	0.58432	D	0.999993	D	0.59767	0.986	P	0.51895	0.683	T	0.73652	-0.3915	10	0.32370	T	0.25	.	15.6407	0.76997	0.0:0.0:1.0:0.0	.	104	Q6FHJ7	SFRP4_HUMAN	V	104;101	ENSP00000410715:A104V	ENSP00000410715:A104V	A	-	2	0	SFRP4	37922354	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	9.493000	0.97960	2.205000	0.71048	0.650000	0.86243	GCG		0.627	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	
GLI3	2737	broad.mit.edu	37	7	42004279	42004279	+	Silent	SNP	G	G	A	rs566409623		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:42004279G>A	ENST00000395925.3	-	15	4476	c.4392C>T	c.(4390-4392)gaC>gaT	p.D1464D	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1464					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1464D(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCAGCTGGCGTCTGAAATAG	0.517									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	1	0.000199681	0.0	0.0	5008	,	,		20680	0.0		0.001	False		,,,				2504	0.0				p.D1464D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4392T	7						.						60.0	58.0	59.0					7																	42004279		2203	4300	6503	41970804	SO:0001819	synonymous_variant	2737	exon15	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4392C>T	7.37:g.42004279G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41970804	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.517	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
AEBP1	165	broad.mit.edu	37	7	44153288	44153288	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:44153288G>A	ENST00000223357.3	+	21	3210	c.2905G>A	c.(2905-2907)Gtt>Att	p.V969I	AEBP1_ENST00000450684.2_Missense_Mutation_p.V544I|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	969	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V969I(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACCTGCAATGTTGACTATGA	0.602																																					p.V969I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2905A	7						.						106.0	101.0	103.0					7																	44153288		2203	4300	6503	44119813	SO:0001583	missense	165	exon21			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2905G>A	7.37:g.44153288G>A	ENSP00000223357:p.Val969Ile	Somatic		Capture	Illumina HiSeq	Phase_I	44119813	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	-	27.6	4.843474	0.91197	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.51817	0.69;0.69	4.96	4.96	0.65561	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	M	0.64080	1.96	0.80722	D	1	P;D	0.56035	0.663;0.974	B;P	0.61592	0.243;0.891	T	0.65319	-0.6197	10	0.49607	T	0.09	-39.0271	18.2071	0.89858	0.0:0.0:1.0:0.0	.	544;969	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	I	969;544	ENSP00000223357:V969I;ENSP00000398878:V544I	ENSP00000223357:V969I	V	+	1	0	AEBP1	44119813	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	9.694000	0.98686	2.482000	0.83794	0.552000	0.68991	GTT		0.602	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	
OGDH	4967	broad.mit.edu	37	7	44684943	44684943	+	Silent	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:44684943T>C	ENST00000222673.5	+	3	282	c.240T>C	c.(238-240)ttT>ttC	p.F80F	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Silent_p.F80F|OGDH_ENST00000543843.1_Silent_p.F20F|OGDH_ENST00000444676.1_Silent_p.F80F|OGDH_ENST00000443864.2_Silent_p.F80F|OGDH_ENST00000447398.1_Silent_p.F80F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	80					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.F80F(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ACATTTTTTTTCGCAACACGA	0.582																																					p.F80F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T240C	7						.						130.0	125.0	127.0					7																	44684943		2203	4300	6503	44651468	SO:0001819	synonymous_variant	4967	exon3			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.240T>C	7.37:g.44684943T>C		Somatic		Capture	Illumina HiSeq	Phase_I	44651468	NM_001003941	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																				0.582	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
ZMIZ2	83637	broad.mit.edu	37	7	44800101	44800101	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:44800101C>T	ENST00000309315.4	+	9	1272	c.1149C>T	c.(1147-1149)agC>agT	p.S383S	ZMIZ2_ENST00000433667.1_Silent_p.S351S|ZMIZ2_ENST00000441627.1_Silent_p.S383S|ZMIZ2_ENST00000413916.1_Silent_p.S325S|ZMIZ2_ENST00000265346.7_Silent_p.S357S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	383	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.S383S(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAAGCAGCAGCGTCCCTTACA	0.572																																					p.S357S	NSCLC(20;604 852 1948 16908 50522)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1071T	7						.						148.0	162.0	157.0					7																	44800101		2145	4263	6408	44766626	SO:0001819	synonymous_variant	83637	exon7			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1149C>T	7.37:g.44800101C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44766626	NM_174929	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	CCDS43576.1																																																																																				0.572	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	
ZMIZ2	83637	broad.mit.edu	37	7	44804057	44804057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:44804057C>T	ENST00000309315.4	+	14	2023	c.1900C>T	c.(1900-1902)Cgg>Tgg	p.R634W	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R602W|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R634W|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R576W|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R608W	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	634					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.R634W(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAACTGTGAGCGGGGGACTTG	0.527																																					p.R608W	NSCLC(20;604 852 1948 16908 50522)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1822T	7						.						103.0	112.0	109.0					7																	44804057		2202	4300	6502	44770582	SO:0001583	missense	83637	exon12			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1900C>T	7.37:g.44804057C>T	ENSP00000311778:p.Arg634Trp	Somatic		Capture	Illumina HiSeq	Phase_I	44770582	NM_174929	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986442	0.74589	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.05	3.04	0.35103	Zinc finger, MIZ-type (2);	0.000000	0.52532	D	0.000062	D	0.92004	0.7467	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.999	D	0.92815	0.6267	10	0.87932	D	0	-17.9955	12.1784	0.54198	0.3692:0.6308:0.0:0.0	.	608;634;576	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	W	576;634;634;602;608;637	ENSP00000409648:R576W;ENSP00000311778:R634W;ENSP00000414723:R634W;ENSP00000396601:R602W;ENSP00000265346:R608W	ENSP00000265346:R608W	R	+	1	2	ZMIZ2	44770582	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.133000	0.31430	1.325000	0.45301	0.491000	0.48974	CGG		0.527	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	
ZPBP	11055	broad.mit.edu	37	7	50121489	50121489	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:50121489G>A	ENST00000046087.2	-	3	284	c.215C>T	c.(214-216)gCg>gTg	p.A72V	ZPBP_ENST00000419417.1_Missense_Mutation_p.A72V	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	72					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.A72V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CATGACATACGCTTTCACTGA	0.353																																					p.A72V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215T	7						.						109.0	101.0	103.0					7																	50121489		2202	4299	6501	50092035	SO:0001583	missense	11055	exon3			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.215C>T	7.37:g.50121489G>A	ENSP00000046087:p.Ala72Val	Somatic		Capture	Illumina HiSeq	Phase_I	50092035	NM_001159878	A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	2.482	-0.319349	0.05386	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.36699	1.26;1.24;2.09	5.1	3.94	0.45596	Immunoglobulin-like (1);	0.285266	0.24334	N	0.039436	T	0.07413	0.0187	N	0.00112	-2.095	0.19945	N	0.999946	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31392	-0.9945	9	.	.	.	-9.817	8.829	0.35072	0.9121:0.0:0.0879:0.0	.	72;72	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	V	72;72;33	ENSP00000046087:A72V;ENSP00000402071:A72V;ENSP00000390054:A33V	.	A	-	2	0	ZPBP	50092035	0.981000	0.34729	0.929000	0.37066	0.793000	0.44817	3.398000	0.52579	0.780000	0.33566	-0.606000	0.04082	GCG		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009	
IKZF1	10320	broad.mit.edu	37	7	50467779	50467779	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:50467779C>T	ENST00000331340.3	+	8	1169	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Silent_p.S296S|IKZF1_ENST00000346667.4_Silent_p.S108S|IKZF1_ENST00000438033.1_Silent_p.S251S|IKZF1_ENST00000343574.5_Silent_p.S251S|IKZF1_ENST00000349824.4_Silent_p.S195S|IKZF1_ENST00000357364.4_Silent_p.S251S|IKZF1_ENST00000359197.5_Silent_p.S296S	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	338					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.S338S(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGGGCGGTTCCGAGGTGGTCC	0.677			"""D,T"""	BCL6	"""ALL, DLBCL"""																																p.S338S			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	.	.	29	Unknown(28)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(28)|large_intestine(1)	c.C1014T	7						.						12.0	15.0	14.0					7																	50467779		1974	4134	6108	50435273	SO:0001819	synonymous_variant	10320	exon8			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1014C>T	7.37:g.50467779C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50435273	NM_006060	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																					0.677	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
POM121L12	285877	broad.mit.edu	37	7	53103781	53103781	+	Silent	SNP	C	C	T	rs534712268		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:53103781C>T	ENST00000408890.4	+	1	433	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	139								p.I139M(1)|p.I139I(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTGACCATCGGGATCGCGC	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		12104	0.0		0.0	False		,,,				2504	0.001				p.I139I												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C417T	7						.						24.0	28.0	27.0					7																	53103781		1967	4116	6083	53071275	SO:0001819	synonymous_variant	285877	exon1				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.417C>T	7.37:g.53103781C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53071275	NM_182595	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																				0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
ABCB1	5243	broad.mit.edu	37	7	87178781	87178781	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:87178781C>T	ENST00000265724.3	-	15	2025	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	ABCB1_ENST00000543898.1_Silent_p.K472K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	536	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.K536K(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CGATCCTCTGCTTCTGCCCAC	0.537																																					p.K536K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1608A	7						.						126.0	110.0	116.0					7																	87178781		2203	4300	6503	87016717	SO:0001819	synonymous_variant	5243	exon15			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1608G>A	7.37:g.87178781C>T		Somatic		Capture	Illumina HiSeq	Phase_I	87016717	NM_000927	A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	CCDS5608.1																																																																																				0.537	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
FZD1	8321	broad.mit.edu	37	7	90895134	90895134	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:90895134C>T	ENST00000287934.2	+	1	1352	c.939C>T	c.(937-939)ccC>ccT	p.P313P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	313					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P313P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ACTTCGGGCCCGAGGAGCTGC	0.612																																					p.P313P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	7						.						84.0	74.0	77.0					7																	90895134		2203	4300	6503	90733070	SO:0001819	synonymous_variant	8321	exon1			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.939C>T	7.37:g.90895134C>T		Somatic		Capture	Illumina HiSeq	Phase_I	90733070	NM_003505	A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	CCDS5620.1																																																																																				0.612	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
ASB4	51666	broad.mit.edu	37	7	95157168	95157168	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:95157168G>A	ENST00000325885.5	+	3	602	c.531G>A	c.(529-531)acG>acA	p.T177T	ASB4_ENST00000428113.1_Silent_p.T177T	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	177					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.T177T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGAGGAGACGCCCTTGCACA	0.498											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T177T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G531A	7						.						88.0	75.0	80.0					7																	95157168		2203	4300	6503	94995104	SO:0001819	synonymous_variant	51666	exon3			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.531G>A	7.37:g.95157168G>A		Somatic	1310	Capture	Illumina HiSeq	Phase_I	94995104	NM_016116	A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	CCDS5641.1																																																																																				0.498	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116	
GIGYF1	64599	broad.mit.edu	37	7	100285170	100285170	+	Frame_Shift_Del	DEL	G	G	-	rs553150910		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:100285170delG	ENST00000275732.5	-	4	1540	c.331delC	c.(331-333)ctgfs	p.L111fs	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	111					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.L111fs*234(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGCCAGCCAGGGGGGGGCCA	0.672																																					p.L111fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.331delC	7						.			59,54,4061		2,1,54,2,49,1979	16.0	18.0	18.0			-3.0	0.0	7		17	65,68,7969		2,0,61,1,66,3921	no	codingComplex	GIGYF1	NM_022574.4		4,1,115,3,115,5900	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6416,2.7072,2.0039			100285170	124,122,12030	2180	4264	6444	100123106	SO:0001589	frameshift_variant	64599	exon4			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.331delC	7.37:g.100285170delG	ENSP00000275732:p.Leu111fs	Somatic		Capture	Illumina HiSeq	Phase_I	100123106	NM_022574	Q6Y7W7|Q8WZ38	Frame_Shift_Del	DEL	ENST00000275732.5	37	CCDS34708.1																																																																																				0.672	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574	
RBM33	155435	broad.mit.edu	37	7	155534588	155534588	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr7:155534588C>T	ENST00000401878.3	+	13	2323	c.2125C>T	c.(2125-2127)Cgt>Tgt	p.R709C		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	709							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R709C(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAGCAATTTGCGTGAATTACC	0.507																																					p.R709C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2125T	7						.						111.0	109.0	110.0					7																	155534588		2203	4300	6503	155227349	SO:0001583	missense	155435	exon13			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2125C>T	7.37:g.155534588C>T	ENSP00000384160:p.Arg709Cys	Somatic		Capture	Illumina HiSeq	Phase_I	155227349	NM_053043	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214556	0.58452	.	.	ENSG00000184863	ENST00000401878	T	0.61040	0.14	5.76	4.82	0.62117	.	0.086489	0.51477	D	0.000100	T	0.69975	0.3171	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.917;0.966	T	0.68394	-0.5420	9	.	.	.	.	13.4472	0.61148	0.2744:0.7256:0.0:0.0	.	426;709	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	709	ENSP00000384160:R709C	.	R	+	1	0	RBM33	155227349	1.000000	0.71417	0.811000	0.32455	0.210000	0.24377	2.840000	0.48215	2.720000	0.93068	0.591000	0.81541	CGT		0.507	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408	
KHDRBS3	10656	broad.mit.edu	37	8	136554915	136554916	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:136554915_136554916insT	ENST00000355849.5	+	3	636_637	c.226_227insT	c.(226-228)cttfs	p.L76fs	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	76	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L77fs*49(1)|p.L76R(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TGTGGGGAAACTTTTGGGTCCA	0.371																																					p.L76fs												.	.	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(1)|lung(1)	c.226_227insT	8						.																																			136624098	SO:0001589	frameshift_variant	10656	exon3			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.230dupT	8.37:g.136554919_136554919dupT	ENSP00000348108:p.Leu76fs	Somatic		Capture	Illumina HiSeq	Phase_I	136624097	NM_006558	Q6NUL8|Q9UPA8	Frame_Shift_Ins	INS	ENST00000355849.5	37	CCDS6374.1																																																																																				0.371	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1		
STAU2	27067	broad.mit.edu	37	8	74464307	74464308	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:74464307_74464308insG	ENST00000521451.1	-	8	1185_1186	c.809_810insC	c.(808-810)cctfs	p.P270fs	STAU2_ENST00000521727.1_Frame_Shift_Ins_p.P470fs|STAU2_ENST00000355780.5_Frame_Shift_Ins_p.P458fs|STAU2_ENST00000523558.1_Frame_Shift_Ins_p.P318fs|STAU2_ENST00000522509.1_Frame_Shift_Ins_p.P458fs|STAU2_ENST00000517542.1_Frame_Shift_Ins_p.P452fs|STAU2_ENST00000521210.1_Frame_Shift_Ins_p.P386fs|STAU2_ENST00000524300.1_Frame_Shift_Ins_p.P490fs|STAU2_ENST00000522695.1_Frame_Shift_Ins_p.P458fs|STAU2_ENST00000519961.1_Frame_Shift_Ins_p.P490fs			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	490	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.C459fs*>22(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTGGAGAACAAGGGGGAGTAGG	0.371																																					p.P318fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.954_955insC	8						.																																			74626862	SO:0001589	frameshift_variant	27067	exon8			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.810dupC	8.37:g.74464312_74464312dupG	ENSP00000428476:p.Pro270fs	Somatic		Capture	Illumina HiSeq	Phase_I	74626861	NM_001164383	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Frame_Shift_Ins	INS	ENST00000521451.1	37																																																																																					0.371	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380	
CNBD1	168975	broad.mit.edu	37	8	88298877	88298878	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:88298877_88298878insA	ENST00000518476.1	+	8	1071_1072	c.1020_1021insA	c.(1021-1023)aaafs	p.K341fs		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	341								p.F343fs*21(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCCTTAAATGGAAAAAATTTCC	0.292																																					p.W340fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1020_1021insA	8						.																																			88367994	SO:0001589	frameshift_variant	168975	exon8			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1026dupA	8.37:g.88298883_88298883dupA	ENSP00000430073:p.Lys341fs	Somatic		Capture	Illumina HiSeq	Phase_I	88367993	NM_173538		Frame_Shift_Ins	INS	ENST00000518476.1	37	CCDS55259.1																																																																																				0.292	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
RIMS2	9699	broad.mit.edu	37	8	104924348	104924348	+	Missense_Mutation	SNP	G	G	A	rs375138135		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:104924348G>A	ENST00000436393.2	+	4	1335	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	RIMS2_ENST00000507740.1_Missense_Mutation_p.R395H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R442H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R587H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	665					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R395H(1)|p.R670H(1)|p.R365H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAATAAGCGTCTAAAAGAT	0.353										HNSCC(12;0.0054)																											p.R587H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1760A	8						.	G	HIS/ARG,HIS/ARG	1,3687		0,1,1843	119.0	116.0	117.0		1760,1184	5.9	1.0	8		117	1,8175		0,1,4087	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	29,29	0,2,5930	AA,AG,GG		0.0122,0.0271,0.0169	probably-damaging,probably-damaging	587/1350,395/1164	104924348	2,11862	1844	4088	5932	104993524	SO:0001583	missense	9699	exon6			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1094G>A	8.37:g.104924348G>A	ENSP00000390665:p.Arg365His	Somatic		Capture	Illumina HiSeq	Phase_I	104993524	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	35	5.445035	0.96187	2.71E-4	1.22E-4	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.21031	2.03;2.52;2.15;2.22;2.2;2.14;2.53	5.92	5.92	0.95590	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.44644	0.1303	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;0.999;0.998;1.0	D;D;D;D;D	0.81914	0.977;0.977;0.992;0.98;0.995	T	0.14254	-1.0479	9	0.66056	D	0.02	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	665;365;442;395;587	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	587;618;587;665;395;442;395;395;365	ENSP00000427018:R587H;ENSP00000384892:R587H;ENSP00000425205:R395H;ENSP00000262231:R442H;ENSP00000423559:R395H;ENSP00000386228:R395H;ENSP00000390665:R365H	ENSP00000262231:R442H	R	+	2	0	RIMS2	104993524	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.833000	0.86765	2.822000	0.97130	0.650000	0.86243	CGT		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
DPYS	1807	broad.mit.edu	37	8	105441848	105441848	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:105441848G>A	ENST00000351513.2	-	5	1007	c.875C>T	c.(874-876)gCa>gTa	p.A292V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	292					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.A292V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGTGGGCTGCATGGTGCCA	0.493																																					p.A292V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	8						.						162.0	127.0	139.0					8																	105441848		2203	4300	6503	105511024	SO:0001583	missense	1807	exon5			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.875C>T	8.37:g.105441848G>A	ENSP00000276651:p.Ala292Val	Somatic		Capture	Illumina HiSeq	Phase_I	105511024	NM_001385		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	36	5.968582	0.97156	.	.	ENSG00000147647	ENST00000351513	D	0.91407	-2.84	6.06	6.06	0.98353	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	M	0.91249	3.19	0.80722	D	1	D	0.67145	0.996	P	0.55999	0.789	D	0.95879	0.8897	10	0.87932	D	0	-20.2699	20.6243	0.99512	0.0:0.0:1.0:0.0	.	292	Q14117	DPYS_HUMAN	V	292	ENSP00000276651:A292V	ENSP00000276651:A292V	A	-	2	0	DPYS	105511024	1.000000	0.71417	0.961000	0.40146	0.961000	0.63080	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GCA		0.493	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
CSMD3	114788	broad.mit.edu	37	8	113933907	113933907	+	Missense_Mutation	SNP	G	G	A	rs138791171		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:113933907G>A	ENST00000297405.5	-	10	1826	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	CSMD3_ENST00000352409.3_Missense_Mutation_p.R528W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R488W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R424W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	528	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R528W(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAGCTATCCGTTGACAGGTG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16755	0.0		0.001	False		,,,				2504	0.0				p.R528W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1582T	8						.	G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	116.0	109.0	112.0		1270,1582,1462	0.9	1.0	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	424/3539,528/3708,488/3668	113933907	1,13005	2203	4300	6503	114003083	SO:0001583	missense	114788	exon10			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1582C>T	8.37:g.113933907G>A	ENSP00000297405:p.Arg528Trp	Somatic		Capture	Illumina HiSeq	Phase_I	114003083	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.2	3.955758	0.73902	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.48	0.936	0.19488	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000007	T	0.77498	0.4139	M	0.79475	2.455	0.29616	N	0.846584	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.996	T	0.76737	-0.2849	10	0.66056	D	0.02	.	15.0099	0.71542	0.0:0.0:0.2444:0.7556	.	424;528;488	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	488;528;424;528	ENSP00000345799:R488W;ENSP00000297405:R528W;ENSP00000412263:R424W;ENSP00000343124:R528W	ENSP00000297405:R528W	R	-	1	2	CSMD3	114003083	0.999000	0.42202	0.964000	0.40570	0.992000	0.81027	0.704000	0.25661	0.229000	0.21039	0.655000	0.94253	CGG		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TAF2	6873	broad.mit.edu	37	8	120754822	120754822	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:120754822G>A	ENST00000378164.2	-	25	3587	c.3289C>T	c.(3289-3291)Ccc>Tcc	p.P1097S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1097					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P1097S(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTGTGGTGGGTGTGCTGTCA	0.418																																					p.P1097S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3289T	8						.						62.0	60.0	61.0					8																	120754822		2203	4300	6503	120824003	SO:0001583	missense	6873	exon25			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3289C>T	8.37:g.120754822G>A	ENSP00000367406:p.Pro1097Ser	Somatic		Capture	Illumina HiSeq	Phase_I	120824003	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257592	0.39896	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.33216	2.57;1.42	5.57	2.66	0.31614	.	0.358272	0.24274	N	0.039976	T	0.15609	0.0376	N	0.14661	0.345	0.39165	D	0.962483	B	0.15930	0.015	B	0.19946	0.027	T	0.08680	-1.0710	10	0.19147	T	0.46	-11.2101	8.0199	0.30404	0.0:0.3512:0.4867:0.1621	.	1097	Q6P1X5	TAF2_HUMAN	S	1097;273	ENSP00000367406:P1097S;ENSP00000436750:P273S	ENSP00000367406:P1097S	P	-	1	0	TAF2	120824003	0.896000	0.30565	0.987000	0.45799	0.850000	0.48378	1.293000	0.33353	1.339000	0.45563	0.591000	0.81541	CCC		0.418	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
KLHL38	340359	broad.mit.edu	37	8	124664205	124664205	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:124664205C>T	ENST00000325995.7	-	1	985	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	321								p.R321Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTTGTACAGCCGTGTCGGGAG	0.592																																					p.R321Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	8						.						69.0	72.0	71.0					8																	124664205		2011	4166	6177	124733386	SO:0001583	missense	340359	exon1				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.962G>A	8.37:g.124664205C>T	ENSP00000321475:p.Arg321Gln	Somatic		Capture	Illumina HiSeq	Phase_I	124733386	NM_001081675	A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932027	0.52866	.	.	ENSG00000175946	ENST00000325995	T	0.66995	-0.24	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.81802	2.56	0.51482	D	0.999921	P	0.37731	0.607	B	0.29785	0.107	T	0.67241	-0.5720	10	0.30078	T	0.28	.	15.435	0.75140	0.0:0.8608:0.1392:0.0	.	321	Q2WGJ6	KLH38_HUMAN	Q	321	ENSP00000321475:R321Q	ENSP00000321475:R321Q	R	-	2	0	KLHL38	124733386	1.000000	0.71417	0.796000	0.32109	0.238000	0.25445	5.945000	0.70226	2.571000	0.86741	0.561000	0.74099	CGG		0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
KCNQ3	3786	broad.mit.edu	37	8	133492423	133492423	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:133492423C>A	ENST00000388996.4	-	1	777	c.357G>T	c.(355-357)cgG>cgT	p.R119R	KCNQ3_ENST00000519445.1_Silent_p.R119R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	119					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R119R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCGCCCAGCCCCGCGGTCTCT	0.687																																					p.R119R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G357T	8						.						41.0	48.0	46.0					8																	133492423		2203	4300	6503	133561605	SO:0001819	synonymous_variant	3786	exon1			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.357G>T	8.37:g.133492423C>A		Somatic		Capture	Illumina HiSeq	Phase_I	133561605	NM_004519	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.687	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
ZFAT	57623	broad.mit.edu	37	8	135614541	135614541	+	Missense_Mutation	SNP	C	C	T	rs374372896		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:135614541C>T	ENST00000377838.3	-	6	1595	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	ZFAT_ENST00000520214.1_Missense_Mutation_p.R462H|ZFAT_ENST00000520727.1_Missense_Mutation_p.R462H|ZFAT_ENST00000429442.2_Missense_Mutation_p.R462H|ZFAT_ENST00000520356.1_Missense_Mutation_p.R462H|ZFAT_ENST00000523399.1_Missense_Mutation_p.R412H|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	474					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R474H(1)|p.R462H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GATGTGGGTGCGCAGCCTGAT	0.602																																					p.R412H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1235A	8						.						40.0	42.0	41.0					8																	135614541		2079	4205	6284	135683723	SO:0001583	missense	57623	exon5			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1421G>A	8.37:g.135614541C>T	ENSP00000367069:p.Arg474His	Somatic		Capture	Illumina HiSeq	Phase_I	135683723	NM_001174157	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123579	0.77436	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	6.04	6.04	0.98038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.127483	0.53938	D	0.000058	T	0.18257	0.0438	L	0.35414	1.06	0.46478	D	0.999064	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75484	0.976;0.986;0.966;0.95	T	0.00339	-1.1805	10	0.44086	T	0.13	-33.9869	12.8339	0.57761	0.0:0.9264:0.0:0.0736	.	412;462;462;474	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	462;462;462;474;462;412;462	ENSP00000427879:R462H;ENSP00000427831:R462H;ENSP00000394501:R462H;ENSP00000367069:R474H;ENSP00000428483:R462H;ENSP00000429091:R412H	ENSP00000367069:R474H	R	-	2	0	ZFAT	135683723	0.871000	0.30034	0.991000	0.47740	0.982000	0.71751	1.672000	0.37523	2.873000	0.98535	0.563000	0.77884	CGC		0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
KHDRBS3	10656	broad.mit.edu	37	8	136659287	136659287	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:136659287C>A	ENST00000355849.5	+	9	1411	c.1001C>A	c.(1000-1002)gCa>gAa	p.A334E	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.A107E	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	334					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A334E(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCGAGGACAGCAAAGGGCGTC	0.453																																					p.A334E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1001A	8						.						143.0	126.0	132.0					8																	136659287		2203	4300	6503	136728469	SO:0001583	missense	10656	exon9			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.1001C>A	8.37:g.136659287C>A	ENSP00000348108:p.Ala334Glu	Somatic		Capture	Illumina HiSeq	Phase_I	136728469	NM_006558	Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589109	0.28357	.	.	ENSG00000131773	ENST00000355849;ENST00000520981	T;T	0.47177	0.92;0.85	5.37	4.49	0.54785	.	0.708972	0.13171	N	0.408245	T	0.40522	0.1120	L	0.38175	1.15	0.09310	N	1	P	0.42757	0.789	P	0.45428	0.48	T	0.11767	-1.0574	10	0.14252	T	0.57	-4.7104	9.142	0.36910	0.0:0.7757:0.1466:0.0777	.	334	O75525	KHDR3_HUMAN	E	334;107	ENSP00000348108:A334E;ENSP00000428607:A107E	ENSP00000348108:A334E	A	+	2	0	KHDRBS3	136728469	0.692000	0.27719	0.026000	0.17262	0.915000	0.54546	4.914000	0.63348	1.371000	0.46172	0.655000	0.94253	GCA		0.453	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1		
FAM135B	51059	broad.mit.edu	37	8	139144952	139144952	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:139144952C>T	ENST00000395297.1	-	20	4275	c.4105G>A	c.(4105-4107)Gcc>Acc	p.A1369T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1369								p.A1369T(2)		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)			TTGGGCAGGGCGTGGAACACG	0.537										HNSCC(54;0.14)																											p.A1369T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4105A	8						.						241.0	249.0	247.0					8																	139144952		1975	4165	6140	139214134	SO:0001583	missense	51059	exon20			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.4105G>A	8.37:g.139144952C>T	ENSP00000378710:p.Ala1369Thr	Somatic		Capture	Illumina HiSeq	Phase_I	139214134	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	35	5.548291	0.96488	.	.	ENSG00000147724	ENST00000395297	T	0.15718	2.4	5.65	4.72	0.59763	.	0.063724	0.64402	D	0.000008	T	0.41050	0.1142	M	0.71581	2.175	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.23833	-1.0177	10	0.87932	D	0	-23.2387	14.4806	0.67579	0.1474:0.8526:0.0:0.0	.	1369	Q49AJ0	F135B_HUMAN	T	1369	ENSP00000378710:A1369T	ENSP00000378710:A1369T	A	-	1	0	FAM135B	139214134	0.995000	0.38212	0.999000	0.59377	0.996000	0.88848	3.241000	0.51376	2.676000	0.91093	0.591000	0.81541	GCC		0.537	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
TDRP	157695	broad.mit.edu	37	8	442415	442415	+	Missense_Mutation	SNP	G	G	A	rs535067461		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:442415G>A	ENST00000324079.6	-	3	782	c.542C>T	c.(541-543)cCg>cTg	p.P181L	TDRP_ENST00000523656.1_Intron|TDRP_ENST00000524229.1_5'Flank|TDRP_ENST00000427263.2_Intron			Q86YL5	TDRP_HUMAN	testis development related protein	181					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P181L(1)									CGCCTCCTCCGGGCTATCTGT	0.607																																					p.P181L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C542T	8						.						10.0	12.0	11.0					8																	442415		2060	4203	6263	432415	SO:0001583	missense	157695	exon3			AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.542C>T	8.37:g.442415G>A	ENSP00000315111:p.Pro181Leu	Somatic		Capture	Illumina HiSeq	Phase_I	432415	NM_175075	B6VF03|B9EG53	Missense_Mutation	SNP	ENST00000324079.6	37	CCDS47759.1	.	.	.	.	.	.	.	.	.	.	G	8.539	0.872838	0.17322	.	.	ENSG00000180190	ENST00000324079	.	.	.	6.08	1.14	0.20703	.	0.390712	0.31834	N	0.006990	T	0.26919	0.0659	N	0.08118	0	0.47065	D	0.999309	B	0.21225	0.053	B	0.16722	0.016	T	0.03157	-1.1066	9	0.49607	T	0.09	.	5.6122	0.17412	0.1083:0.6323:0.1515:0.1079	.	181	Q86YL5	CH042_HUMAN	L	181	.	ENSP00000315111:P181L	P	-	2	0	C8orf42	432415	1.000000	0.71417	0.028000	0.17463	0.077000	0.17291	0.870000	0.28010	-0.072000	0.12864	-0.165000	0.13383	CCG		0.607	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075	
SLC7A2	6542	broad.mit.edu	37	8	17418003	17418003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:17418003C>T	ENST00000494857.1	+	10	1683	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	SLC7A2_ENST00000522656.1_Nonsense_Mutation_p.Q489*|SLC7A2_ENST00000398090.3_Nonsense_Mutation_p.Q528*|SLC7A2_ENST00000004531.10_Nonsense_Mutation_p.Q529*|SLC7A2_ENST00000470360.1_Nonsense_Mutation_p.Q528*	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	489					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.Q489*(1)|p.Q528*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCAACACAGCAGTCAGCTTC	0.537																																					p.Q489X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1465T	8						.						156.0	140.0	146.0					8																	17418003		2203	4300	6503	17462295	SO:0001587	stop_gained	6542	exon9			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1465C>T	8.37:g.17418003C>T	ENSP00000419140:p.Gln489*	Somatic		Capture	Illumina HiSeq	Phase_I	17462295	NM_001008539	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Nonsense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929220	0.92389	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	.	.	.	5.27	3.42	0.39159	.	0.531595	0.22641	N	0.057452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8104	0.46543	0.0:0.7966:0.1318:0.0715	.	.	.	.	X	489;489;528;529;528	.	ENSP00000004531:Q529X	Q	+	1	0	SLC7A2	17462295	0.377000	0.25106	0.155000	0.22561	0.125000	0.20455	1.229000	0.32600	0.681000	0.31386	0.655000	0.94253	CAG		0.537	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046	
PIWIL2	55124	broad.mit.edu	37	8	22173835	22173835	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:22173835A>G	ENST00000454009.2	+	19	2795	c.2286A>G	c.(2284-2286)gcA>gcG	p.A762A	PIWIL2_ENST00000521356.1_Silent_p.A762A|PIWIL2_ENST00000356766.6_Silent_p.A762A	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	762	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.A762A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCTTCGTGGCAAGCATCAATC	0.383																																					p.A762A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2286G	8						.						142.0	126.0	131.0					8																	22173835		2203	4300	6503	22229780	SO:0001819	synonymous_variant	55124	exon19			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2286A>G	8.37:g.22173835A>G		Somatic		Capture	Illumina HiSeq	Phase_I	22229780	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	CCDS6029.1																																																																																				0.383	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
CHRNA2	1135	broad.mit.edu	37	8	27320963	27320963	+	Silent	SNP	G	G	A	rs79996627		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:27320963G>A	ENST00000520933.2	-	5	1150	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	CHRNA2_ENST00000407991.1_Silent_p.L333L|CHRNA2_ENST00000240132.2_Silent_p.L318L			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	333					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.L333L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	ATGGTGAACAGCAGGTACTCG	0.592																																					p.L333L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C997T	8						.						170.0	129.0	143.0					8																	27320963		2203	4300	6503	27376880	SO:0001819	synonymous_variant	1135	exon6			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.997C>T	8.37:g.27320963G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27376880	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Silent	SNP	ENST00000520933.2	37	CCDS6059.1																																																																																				0.592	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4		
NUGGC	389643	broad.mit.edu	37	8	27903131	27903131	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:27903131C>G	ENST00000413272.2	-	12	1501	c.1359G>C	c.(1357-1359)aaG>aaC	p.K453N	NUGGC_ENST00000341513.6_Missense_Mutation_p.K453N	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	453					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K453N(1)									TCCTCTTCTTCTTGTCCAAGA	0.448																																					p.K453N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1359C	8						.						195.0	195.0	195.0					8																	27903131		1911	4137	6048	27959050	SO:0001583	missense	389643	exon12			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1359G>C	8.37:g.27903131C>G	ENSP00000408697:p.Lys453Asn	Somatic		Capture	Illumina HiSeq	Phase_I	27959050	NM_001010906	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955610	0.34471	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15372	2.43;2.43	5.32	4.45	0.53987	.	0.413994	0.26867	N	0.022096	T	0.10208	0.0250	N	0.24115	0.695	0.36008	D	0.837874	B	0.33583	0.418	B	0.28784	0.094	T	0.29731	-1.0002	10	0.25751	T	0.34	-12.9975	10.0564	0.42248	0.0:0.9068:0.0:0.0932	.	453	Q68CJ6	SLIP_HUMAN	N	453	ENSP00000408697:K453N;ENSP00000345031:K453N	ENSP00000345031:K453N	K	-	3	2	C8orf80	27959050	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	2.439000	0.44846	1.229000	0.43630	0.655000	0.94253	AAG		0.448	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
KIF13B	23303	broad.mit.edu	37	8	29006133	29006133	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:29006133C>A	ENST00000524189.1	-	16	1812	c.1774G>T	c.(1774-1776)Gca>Tca	p.A592S	KIF13B_ENST00000521515.1_Missense_Mutation_p.A592S	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	592					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.A592S(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCCATCTGTGCGTATTCGTAA	0.527																																					p.A592S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1774T	8						.						92.0	95.0	94.0					8																	29006133		1995	4160	6155	29062052	SO:0001583	missense	23303	exon16			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1774G>T	8.37:g.29006133C>A	ENSP00000427900:p.Ala592Ser	Somatic		Capture	Illumina HiSeq	Phase_I	29062052	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002337	0.93227	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.77098	-1.07;-1.07	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.89252	0.6662	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.992;0.998;0.999	D	0.89821	0.3989	10	0.62326	D	0.03	.	19.098	0.93260	0.0:1.0:0.0:0.0	.	578;592;592	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	S	592	ENSP00000427900:A592S;ENSP00000429201:A592S	ENSP00000429201:A592S	A	-	1	0	KIF13B	29062052	1.000000	0.71417	0.881000	0.34555	0.881000	0.50899	7.215000	0.77966	2.826000	0.97356	0.561000	0.74099	GCA		0.527	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
ANK1	286	broad.mit.edu	37	8	41581127	41581127	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:41581127C>T	ENST00000347528.4	-	8	819	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	ANK1_ENST00000379758.2_Missense_Mutation_p.A246T|ANK1_ENST00000396942.1_Missense_Mutation_p.A246T|ANK1_ENST00000396945.1_Missense_Mutation_p.A246T|ANK1_ENST00000289734.7_Missense_Mutation_p.A246T|ANK1_ENST00000265709.8_Missense_Mutation_p.A279T|ANK1_ENST00000352337.4_Missense_Mutation_p.A246T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	246	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A246T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGCGGGAGGCGATGTGCAGT	0.632																																					p.A246T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G736A	8						.						105.0	75.0	85.0					8																	41581127		2203	4300	6503	41700284	SO:0001583	missense	286	exon8			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.736G>A	8.37:g.41581127C>T	ENSP00000339620:p.Ala246Thr	Somatic		Capture	Illumina HiSeq	Phase_I	41700284	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.725632	0.96847	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.93913	0.8052	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.992;0.986;0.999	D	0.95410	0.8497	10	0.87932	D	0	.	18.9173	0.92510	0.0:1.0:0.0:0.0	.	279;246;246;246;246	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	T	246;246;246;246;246;246;279;246	ENSP00000339620:A246T;ENSP00000289734:A246T;ENSP00000369082:A246T;ENSP00000380149:A246T;ENSP00000380147:A246T;ENSP00000309131:A246T;ENSP00000265709:A279T	ENSP00000265709:A279T	A	-	1	0	ANK1	41700284	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.468000	0.83385	0.561000	0.74099	GCC		0.632	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
MCM4	4173	broad.mit.edu	37	8	48889328	48889328	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:48889328G>A	ENST00000262105.2	+	16	2791	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	RNU6-519P_ENST00000410590.1_RNA|MCM4_ENST00000523944.1_Missense_Mutation_p.R861H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	861					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.R861H(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AAGACCGTGCGCTTGCTCTGA	0.532																																					p.R861H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2582A	8						.						135.0	122.0	126.0					8																	48889328		2203	4300	6503	49051881	SO:0001583	missense	4173	exon17				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2582G>A	8.37:g.48889328G>A	ENSP00000262105:p.Arg861His	Somatic		Capture	Illumina HiSeq	Phase_I	49051881	NM_182746	Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397159	0.83120	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000524276	T;T	0.03920	3.76;3.76	5.86	4.04	0.47022	.	0.052085	0.85682	D	0.000000	T	0.20820	0.0501	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.91635	0.9;0.999	T	0.00677	-1.1614	10	0.87932	D	0	-21.82	11.5074	0.50474	0.0655:0.0:0.8101:0.1244	.	861;861	B3KMX0;P33991	.;MCM4_HUMAN	H	861;861;848;821;145	ENSP00000430194:R861H;ENSP00000262105:R861H	ENSP00000262105:R861H	R	+	2	0	MCM4	49051881	1.000000	0.71417	0.961000	0.40146	0.671000	0.39405	7.642000	0.83385	1.472000	0.48140	0.655000	0.94253	CGC		0.532	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	
RGS20	8601	broad.mit.edu	37	8	54852152	54852152	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:54852152G>A	ENST00000297313.3	+	3	619	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	RGS20_ENST00000344277.6_Missense_Mutation_p.R61Q|RGS20_ENST00000522225.1_Intron|RGS20_ENST00000276500.4_Missense_Mutation_p.R29Q	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	176					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R176Q(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GGATCAGAGCGGATGGAGATG	0.667																																					p.R176Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G527A	8						.						15.0	20.0	18.0					8																	54852152		2200	4300	6500	55014705	SO:0001583	missense	8601	exon3			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.527G>A	8.37:g.54852152G>A	ENSP00000297313:p.Arg176Gln	Somatic		Capture	Illumina HiSeq	Phase_I	55014705	NM_170587	Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044322	0.36085	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000276500	T;T;T	0.40756	1.02;1.13;1.16	4.89	0.913	0.19354	.	5.670770	0.00166	N	0.000008	T	0.27629	0.0679	N	0.17082	0.46	0.33142	D	0.544536	B;B;B	0.26258	0.083;0.145;0.05	B;B;B	0.19148	0.011;0.024;0.005	T	0.27872	-1.0061	10	0.13853	T	0.58	.	9.1787	0.37127	0.3221:0.0:0.6779:0.0	.	29;61;176	O76081-6;O76081-2;O76081	.;.;RGS20_HUMAN	Q	176;61;29	ENSP00000297313:R176Q;ENSP00000344630:R61Q;ENSP00000276500:R29Q	ENSP00000276500:R29Q	R	+	2	0	RGS20	55014705	1.000000	0.71417	0.001000	0.08648	0.551000	0.35334	1.924000	0.40065	0.181000	0.19994	0.650000	0.86243	CGG		0.667	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1		
PDE7A	5150	broad.mit.edu	37	8	66692030	66692030	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:66692030G>A	ENST00000401827.3	-	3	651	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	PDE7A_ENST00000379419.4_Missense_Mutation_p.R44C|PDE7A_ENST00000396642.3_Missense_Mutation_p.R70C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	70					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.R70C(1)|p.R44C(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CTCCTTACACGTACATCTCCT	0.388																																					p.R44C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C130T	8						.						105.0	108.0	107.0					8																	66692030		2203	4300	6503	66854584	SO:0001583	missense	5150	exon3			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.208C>T	8.37:g.66692030G>A	ENSP00000385632:p.Arg70Cys	Somatic		Capture	Illumina HiSeq	Phase_I	66854584	NM_002603	A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866187	0.71949	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.70516	-0.46;-0.49;-0.48;0.29	5.87	5.87	0.94306	.	0.106709	0.64402	D	0.000005	T	0.80565	0.4647	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.986	D;P;P	0.79108	0.992;0.88;0.636	T	0.81230	-0.1027	10	0.72032	D	0.01	.	13.8914	0.63740	0.0:0.0:0.8474:0.1526	.	70;70;44	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	C	70;44;70;44	ENSP00000385632:R70C;ENSP00000368730:R44C;ENSP00000379881:R70C;ENSP00000430262:R44C	ENSP00000368730:R44C	R	-	1	0	PDE7A	66854584	1.000000	0.71417	0.995000	0.50966	0.832000	0.47134	4.601000	0.61090	2.781000	0.95711	0.655000	0.94253	CGT		0.388	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1		
DNAJC5B	85479	broad.mit.edu	37	8	66988979	66988979	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:66988979C>T	ENST00000276570.5	+	4	491	c.204C>T	c.(202-204)caC>caT	p.H68H	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	68	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)		p.H68H(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAACGCCCACGCAATACTTA	0.428																																					p.H68H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204T	8						.						169.0	151.0	157.0					8																	66988979		2203	4300	6503	67151533	SO:0001819	synonymous_variant	85479	exon4			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.204C>T	8.37:g.66988979C>T		Somatic		Capture	Illumina HiSeq	Phase_I	67151533	NM_033105	Q969Y8	Silent	SNP	ENST00000276570.5	37	CCDS6183.1																																																																																				0.428	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105	
WWP1	11059	broad.mit.edu	37	8	87473456	87473456	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:87473456G>A	ENST00000517970.1	+	23	2810	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M	WWP1_ENST00000265428.4_Missense_Mutation_p.V835M|WWP1_ENST00000341922.2_Missense_Mutation_p.V705M|WWP1_ENST00000349423.2_Missense_Mutation_p.V617M	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	835	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V835M(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATTACAGTTTGTGAAAGAGAC	0.353																																					p.V835M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2503A	8						.						121.0	116.0	117.0					8																	87473456		2203	4300	6503	87542572	SO:0001583	missense	11059	exon23			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2503G>A	8.37:g.87473456G>A	ENSP00000427793:p.Val835Met	Somatic		Capture	Illumina HiSeq	Phase_I	87542572	NM_007013	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063094	0.76187	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423;ENST00000520798	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	5.31	4.43	0.53597	HECT (4);	0.060880	0.64402	N	0.000003	T	0.67487	0.2898	L	0.47190	1.495	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.69665	-0.5084	10	0.72032	D	0.01	.	11.256	0.49054	0.1477:0.0:0.8523:0.0	.	835	Q9H0M0	WWP1_HUMAN	M	835;835;705;617;1	ENSP00000427793:V835M;ENSP00000265428:V835M;ENSP00000340564:V705M;ENSP00000342665:V617M;ENSP00000430228:V1M	ENSP00000265428:V835M	V	+	1	0	WWP1	87542572	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.605000	0.82844	1.378000	0.46305	0.650000	0.86243	GTG		0.353	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
CNBD1	168975	broad.mit.edu	37	8	88298782	88298782	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:88298782G>C	ENST00000518476.1	+	8	976	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	309								p.E309Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AATAAAACTTGAAAATATGCA	0.274																																					p.E309Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G925C	8						.						39.0	36.0	37.0					8																	88298782		1759	3996	5755	88367898	SO:0001583	missense	168975	exon8			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.925G>C	8.37:g.88298782G>C	ENSP00000430073:p.Glu309Gln	Somatic		Capture	Illumina HiSeq	Phase_I	88367898	NM_173538		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254593	0.59212	.	.	ENSG00000176571	ENST00000518476	T	0.21031	2.03	5.49	5.49	0.81192	RmlC-like jelly roll fold (1);	0.649179	0.14311	N	0.327700	T	0.38453	0.1041	L	0.59436	1.845	0.23886	N	0.996565	D	0.71674	0.998	P	0.59761	0.863	T	0.18493	-1.0335	10	0.27785	T	0.31	-14.945	15.2216	0.73316	0.0:0.0:1.0:0.0	.	309	Q8NA66	CNBD1_HUMAN	Q	309	ENSP00000430073:E309Q	ENSP00000430073:E309Q	E	+	1	0	CNBD1	88367898	0.950000	0.32346	0.368000	0.25939	0.060000	0.15804	3.256000	0.51492	2.733000	0.93635	0.655000	0.94253	GAA		0.274	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
DCAF4L2	138009	broad.mit.edu	37	8	88885686	88885686	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:88885686G>A	ENST00000319675.3	-	1	610	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	172								p.R172C(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAGGCCGACGCATTCCTGGG	0.572																																					p.R172C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C514T	8						.						115.0	107.0	110.0					8																	88885686		2203	4300	6503	88954802	SO:0001583	missense	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.514C>T	8.37:g.88885686G>A	ENSP00000316496:p.Arg172Cys	Somatic		Capture	Illumina HiSeq	Phase_I	88954802	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	3.090	-0.187161	0.06299	.	.	ENSG00000176566	ENST00000319675	T	0.61859	0.07	1.39	-2.79	0.05841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.470541	0.25657	N	0.029168	T	0.22475	0.0542	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06320	-1.0833	10	0.54805	T	0.06	.	3.851	0.08955	0.2704:0.3292:0.4003:0.0	.	172	Q8NA75	DC4L2_HUMAN	C	172	ENSP00000316496:R172C	ENSP00000316496:R172C	R	-	1	0	DCAF4L2	88954802	0.964000	0.33143	0.000000	0.03702	0.001000	0.01503	0.919000	0.28692	-1.634000	0.01537	-0.670000	0.03821	CGT		0.572	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
RUNX1T1	862	broad.mit.edu	37	8	93026904	93026904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:93026904C>T	ENST00000523629.1	-	4	825	c.371G>A	c.(370-372)aGc>aAc	p.S124N	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S97N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S87N|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.S87N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S97N|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S135N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S87N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S87N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S124N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	124	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S124N(1)|p.S87N(1)|p.S135N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTTCAGCTTGCTGAGTTGCCT	0.542																																					p.S124N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G371A	8						.						81.0	78.0	79.0					8																	93026904		2203	4300	6503	93096080	SO:0001583	missense	862	exon5			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.371G>A	8.37:g.93026904C>T	ENSP00000428543:p.Ser124Asn	Somatic		Capture	Illumina HiSeq	Phase_I	93096080	NM_001198626	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069333	0.76301	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.92;0.93;0.93	6.05	6.05	0.98169	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.57536	1.79	0.80722	D	1	B;B;P;B;P	0.44241	0.035;0.067;0.829;0.031;0.795	B;B;P;B;P	0.57204	0.055;0.124;0.815;0.124;0.67	T	0.55535	-0.8126	10	0.54805	T	0.06	-17.8517	20.6013	0.99457	0.0:1.0:0.0:0.0	.	135;135;97;124;97	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	N	124;97;124;87;87;87;135;97;87;124;87;124;87;124;124;97;87;87	ENSP00000428543:S124N;ENSP00000379520:S97N;ENSP00000265814:S124N;ENSP00000353504:S87N;ENSP00000390137:S87N;ENSP00000428742:S87N;ENSP00000402257:S135N;ENSP00000430728:S97N;ENSP00000429728:S87N;ENSP00000431094:S124N;ENSP00000427763:S87N;ENSP00000430204:S124N;ENSP00000429940:S87N;ENSP00000429532:S124N	ENSP00000265814:S124N	S	-	2	0	RUNX1T1	93096080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.783000	0.85696	2.878000	0.98634	0.650000	0.86243	AGC		0.542	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
TSPYL5	85453	broad.mit.edu	37	8	98289672	98289672	+	Frame_Shift_Del	DEL	T	T	-	rs372230018		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:98289672delT	ENST00000322128.3	-	1	504	c.401delA	c.(400-402)aatfs	p.N134fs		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	134					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.N134fs*30(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCGGGGGGCATTTTTCGGCCT	0.697																																					p.N134fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.401delA	8						.						19.0	22.0	21.0					8																	98289672		2196	4288	6484	98358848	SO:0001589	frameshift_variant	85453	exon1			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.401delA	8.37:g.98289672delT	ENSP00000322802:p.Asn134fs	Somatic		Capture	Illumina HiSeq	Phase_I	98358848	NM_033512	B3KRF0|Q9C0B3	Frame_Shift_Del	DEL	ENST00000322128.3	37	CCDS34927.1																																																																																				0.697	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512	
RIMS2	9699	broad.mit.edu	37	8	104927779	104927779	+	Frame_Shift_Del	DEL	A	A	-	rs369114535		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:104927779delA	ENST00000436393.2	+	5	1444	c.1203delA	c.(1201-1203)gtafs	p.V401fs	RIMS2_ENST00000507740.1_Frame_Shift_Del_p.V431fs|RIMS2_ENST00000262231.10_Frame_Shift_Del_p.V478fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.V623fs			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	701					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.G434fs*3(1)|p.G709fs*3(1)|p.G404fs*3(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTACTAAAGTAAAAAAAGGAA	0.323										HNSCC(12;0.0054)																											p.V623fs												.	.	3	Deletion - Frameshift(3)	large_intestine(3)	c.1869delA	8						.						98.0	94.0	95.0					8																	104927779		1817	4076	5893	104996955	SO:0001589	frameshift_variant	9699	exon7			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1203delA	8.37:g.104927779delA	ENSP00000390665:p.Val401fs	Somatic		Capture	Illumina HiSeq	Phase_I	104996955	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Frame_Shift_Del	DEL	ENST00000436393.2	37																																																																																					0.323	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
COLEC10	10584	broad.mit.edu	37	8	120114599	120114599	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:120114599delA	ENST00000332843.2	+	4	346	c.305delA	c.(304-306)gaafs	p.E102fs	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	102	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.G104fs*39(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GACAAAGGGGAAAAAGGTTTG	0.333																																					p.E102fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.305delA	8						.						107.0	107.0	107.0					8																	120114599		2203	4300	6503	120183780	SO:0001589	frameshift_variant	10584	exon4			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.305delA	8.37:g.120114599delA	ENSP00000332723:p.Glu102fs	Somatic		Capture	Illumina HiSeq	Phase_I	120183780	NM_006438	Q3SYH6|Q6UW19	Frame_Shift_Del	DEL	ENST00000332843.2	37	CCDS6327.1																																																																																				0.333	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		
HAS2	3037	broad.mit.edu	37	8	122629355	122629355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:122629355delC	ENST00000303924.4	-	3	1256	c.719delG	c.(718-720)ggafs	p.G240fs		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	240					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.G240fs*6(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGGACATCTCCCCCAACACC	0.388																																					p.G240fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.719delG	8						.						141.0	133.0	136.0					8																	122629355		2203	4300	6503	122698536	SO:0001589	frameshift_variant	3037	exon3			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.719delG	8.37:g.122629355delC	ENSP00000306991:p.Gly240fs	Somatic		Capture	Illumina HiSeq	Phase_I	122698536	NM_005328	Q32MM3	Frame_Shift_Del	DEL	ENST00000303924.4	37	CCDS6335.1																																																																																				0.388	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328	
PTK2	5747	broad.mit.edu	37	8	141889622	141889622	+	Missense_Mutation	SNP	C	C	T	rs200017517		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr8:141889622C>T	ENST00000522684.1	-	4	539	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	PTK2_ENST00000340930.3_Missense_Mutation_p.V104I|PTK2_ENST00000535192.1_Missense_Mutation_p.V104I|PTK2_ENST00000521059.1_Missense_Mutation_p.V104I|PTK2_ENST00000520892.1_Missense_Mutation_p.V104I|PTK2_ENST00000517887.1_Missense_Mutation_p.V148I|PTK2_ENST00000395218.2_Missense_Mutation_p.V104I|PTK2_ENST00000519419.1_Missense_Mutation_p.V148I|PTK2_ENST00000519881.1_Missense_Mutation_p.V104I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.V126I(1)|p.V104I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ACACTGGAGACGCCCATATCC	0.507																																					p.V104I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G310A	8						.	C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	275.0	258.0	264.0		310,376,310	5.4	1.0	8		264	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PTK2	NM_001199649.1,NM_005607.4,NM_153831.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	104/1066,126/1075,104/1053	141889622	1,13005	2203	4300	6503	141958804	SO:0001583	missense	5747	exon4			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.310G>A	8.37:g.141889622C>T	ENSP00000429911:p.Val104Ile	Somatic		Capture	Illumina HiSeq	Phase_I	141958804	NM_001199649	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.172364|5.172364	0.94807|0.94807	0.0|0.0	1.16E-4|1.16E-4	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395218;ENST00000340930;ENST00000519419;ENST00000520828;ENST00000520475;ENST00000519881;ENST00000520892;ENST00000523803;ENST00000521907;ENST00000517453;ENST00000520045;ENST00000521395	.|T;T;T;T;T;T;T	.|0.76839	.|-1.01;-1.0;-1.05;-1.01;-1.0;-1.0;-1.05	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Band 4.1 domain (1);FERM domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83871|0.83871	0.5348|0.5348	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	.|D;D;B;D	.|0.67145	.|0.993;0.996;0.452;0.991	.|D;D;B;D	.|0.75484	.|0.981;0.986;0.086;0.973	T|T	0.81479|0.81479	-0.0914|-0.0914	5|10	.|0.33141	.|T	.|0.24	.|.	19.4568|19.4568	0.94895|0.94895	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|104;104;126;104	.|B4E2N6;Q05397;Q658W2;Q8IYN9	.|.;FAK1_HUMAN;.;.	H|I	114|104;104;148;104;104;104;148;3;104;104;104;104;104;104;104;104	.|ENSP00000429911:V104I;ENSP00000438009:V104I;ENSP00000429082:V148I;ENSP00000429474:V104I;ENSP00000378644:V104I;ENSP00000341189:V104I;ENSP00000429129:V148I	.|ENSP00000341189:V104I	R|V	-|-	2|1	0|0	PTK2|PTK2	141958804|141958804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.124000|7.124000	0.77185|0.77185	2.673000|2.673000	0.90976|0.90976	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.507	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	
TEX10	54881	broad.mit.edu	37	9	103109447	103109447	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:103109447A>G	ENST00000374902.4	-	3	598	c.422T>C	c.(421-423)gTa>gCa	p.V141A	TEX10_ENST00000537512.1_Missense_Mutation_p.V76A|TEX10_ENST00000535814.1_Missense_Mutation_p.V144A	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	141						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.V141A(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGGGCACTTACCAAAGGAAA	0.413																																					p.V141A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T422C	9						.						107.0	114.0	112.0					9																	103109447		2203	4300	6503	102149268	SO:0001583	missense	54881	exon3			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.422T>C	9.37:g.103109447A>G	ENSP00000364037:p.Val141Ala	Somatic		Capture	Illumina HiSeq	Phase_I	102149268	NM_017746	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.400152|3.400152	0.62177|0.62177	.|.	.|.	ENSG00000136891|ENSG00000136891	ENST00000444730|ENST00000535814;ENST00000374902;ENST00000537512	.|T;T;T	.|0.66638	.|-0.22;-0.22;-0.22	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.056328	.|0.64402	.|D	.|0.000001	.|T	.|0.72574	.|0.3477	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P;B	.|0.40360	.|0.714;0.584;0.329	.|P;B;B	.|0.49085	.|0.6;0.212;0.311	.|T	.|0.73049	.|-0.4105	.|10	.|0.45353	.|T	.|0.12	.|-7.7853	15.5926|15.5926	0.76550|0.76550	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|76;144;141	.|B7Z9D5;B4DYV2;Q9NXF1	.|.;.;TEX10_HUMAN	.|A	-1|144;141;76	.|ENSP00000444555:V144A;ENSP00000364037:V141A;ENSP00000438120:V76A	.|ENSP00000364037:V141A	.|V	-|-	.|2	.|0	TEX10|TEX10	102149268|102149268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.068000|2.068000	0.61886|0.61886	0.482000|0.482000	0.46254|0.46254	.|GTA		0.413	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
ALDOB	229	broad.mit.edu	37	9	104187180	104187180	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:104187180C>G	ENST00000374855.4	-	8	1068	c.944G>C	c.(943-945)gGt>gCt	p.G315A	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	315					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.G315A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCCTTGCCACCCCAGGCAGC	0.522																																					p.G315A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G944C	9						.						87.0	85.0	86.0					9																	104187180		2203	4300	6503	103227001	SO:0001583	missense	229	exon8			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.944G>C	9.37:g.104187180C>G	ENSP00000363988:p.Gly315Ala	Somatic		Capture	Illumina HiSeq	Phase_I	103227001	NM_000035	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	CCDS6756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.132|7.132	0.580076|0.580076	0.13686|0.13686	.|.	.|.	ENSG00000136872|ENSG00000136872	ENST00000374855|ENST00000430164	D|.	0.85411|.	-1.98|.	5.74|5.74	1.9|1.9	0.25705|0.25705	Aldolase-type TIM barrel (1);|.	0.882598|.	0.10512|.	N|.	0.665992|.	T|T	0.25494|0.25494	0.0620|0.0620	N|N	0.20530|0.20530	0.585|0.585	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.23511|0.23511	-1.0186|-1.0186	10|6	0.16896|0.87932	T|D	0.51|0	-0.1403|-0.1403	5.8306|5.8306	0.18579|0.18579	0.1303:0.5921:0.0:0.2776|0.1303:0.5921:0.0:0.2776	.|.	315|.	P05062|.	ALDOB_HUMAN|.	A|L	315|303	ENSP00000363988:G315A|.	ENSP00000363988:G315A|ENSP00000398334:V303L	G|V	-|-	2|1	0|0	ALDOB|ALDOB	103227001|103227001	0.000000|0.000000	0.05858|0.05858	0.836000|0.836000	0.33094|0.33094	0.974000|0.974000	0.67602|0.67602	-0.266000|-0.266000	0.08631|0.08631	0.162000|0.162000	0.19483|0.19483	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2		
SLC44A1	23446	broad.mit.edu	37	9	108127820	108127820	+	Missense_Mutation	SNP	G	G	A	rs540159903		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:108127820G>A	ENST00000374720.3	+	11	1557	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	SLC44A1_ENST00000374723.1_Missense_Mutation_p.R437H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.R437H|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R229H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	437					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.R437H(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CGCCTTATTCGTTACCACCTA	0.353													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21266	0.0		0.0	False		,,,				2504	0.0				p.R437H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1310A	9						.						116.0	110.0	112.0					9																	108127820		2203	4300	6503	107167641	SO:0001583	missense	23446	exon11			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1310G>A	9.37:g.108127820G>A	ENSP00000363852:p.Arg437His	Somatic		Capture	Illumina HiSeq	Phase_I	107167641	NM_080546	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461230	0.63513	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.82	5.82	0.92795	.	0.049237	0.85682	D	0.000000	T	0.51415	0.1673	M	0.84773	2.715	0.50313	D	0.999869	B;B;D	0.63880	0.308;0.308;0.993	B;B;P	0.57283	0.077;0.077;0.817	T	0.46898	-0.9158	10	0.22109	T	0.4	-16.2355	20.1064	0.97896	0.0:0.0:1.0:0.0	.	437;437;437	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	H	437;437;437;229	ENSP00000363855:R437H;ENSP00000363852:R437H;ENSP00000363856:R437H;ENSP00000341856:R229H	ENSP00000341856:R229H	R	+	2	0	SLC44A1	107167641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.920000	0.87521	2.745000	0.94114	0.650000	0.86243	CGT		0.353	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
ZNF462	58499	broad.mit.edu	37	9	109734350	109734350	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:109734350G>A	ENST00000277225.5	+	8	6781	c.6492G>A	c.(6490-6492)ctG>ctA	p.L2164L	ZNF462_ENST00000542028.1_Silent_p.L121L|ZNF462_ENST00000441147.2_Silent_p.L1070L|ZNF462_ENST00000457913.1_Silent_p.L2224L|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2164					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L2164L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGCTGCCCTGGCAAGGAACA	0.527																																					p.L2164L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6492A	9						.						85.0	87.0	86.0					9																	109734350		2203	4300	6503	108774171	SO:0001819	synonymous_variant	58499	exon8			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6492G>A	9.37:g.109734350G>A		Somatic		Capture	Illumina HiSeq	Phase_I	108774171	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098696	0.20552	.	.	ENSG00000148143	ENST00000427098	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.62417	0.2426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59241	-0.7491	4	.	.	.	.	10.6972	0.45905	0.0669:0.0:0.8015:0.1315	.	.	.	.	S	66	.	.	G	+	1	0	ZNF462	108774171	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.785000	0.55424	2.941000	0.99782	0.655000	0.94253	GGC		0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
SVEP1	79987	broad.mit.edu	37	9	113259095	113259095	+	Splice_Site	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:113259095C>A	ENST00000401783.2	-	8	2136	c.1800G>T	c.(1798-1800)aaG>aaT	p.K600N	SVEP1_ENST00000374461.1_Splice_Site_p.K577N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Splice_Site_p.K600N|SVEP1_ENST00000374469.1_Splice_Site_p.K577N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	600	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.K600N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAAACCTTACCTTTTCACCAG	0.383																																					p.K600N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1800T	9						.						122.0	110.0	114.0					9																	113259095		1867	4071	5938	112298916	SO:0001630	splice_region_variant	79987	exon8			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1800+1G>T	9.37:g.113259095C>A		Somatic		Capture	Illumina HiSeq	Phase_I	112298916	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244596	0.59103	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.77750	-0.97;-0.98;-1.12;1.21	5.71	4.81	0.61882	Hyalin (2);	0.152075	0.64402	D	0.000013	T	0.70657	0.3249	N	0.16233	0.39	0.42091	D	0.991291	P;P;P	0.43231	0.801;0.801;0.557	P;B;B	0.49192	0.602;0.339;0.167	T	0.69072	-0.5242	9	.	.	.	.	13.6089	0.62063	0.0:0.9241:0.0:0.0759	.	600;600;600	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	N	600;577;600;577	ENSP00000384917:K600N;ENSP00000363593:K577N;ENSP00000304118:K600N;ENSP00000363585:K577N	.	K	-	3	2	SVEP1	112298916	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.089000	0.71384	1.430000	0.47334	-0.237000	0.12165	AAG		0.383	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation
RGS3	5998	broad.mit.edu	37	9	116346435	116346435	+	Missense_Mutation	SNP	C	C	T	rs371025710		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:116346435C>T	ENST00000374140.2	+	21	2952	c.2743C>T	c.(2743-2745)Cgc>Tgc	p.R915C	RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Missense_Mutation_p.R236C|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.R915C|RGS3_ENST00000462143.1_Missense_Mutation_p.R236C|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.R634C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	915					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R811C(1)|p.R915C(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAGGCCAAGCGCAGCAGCAT	0.667													C|||	0	0.0	0.0	0.0	5008	,	,		18011	0.0		0.0	False		,,,				2504	0.0				p.R915C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2743T	9						.	C	CYS/ARG,CYS/ARG,CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	113.0	86.0	95.0		706,1900,2743,	5.1	1.0	9		95	0,8600		0,0,4300	no	missense,missense,missense,intron	RGS3	NM_021106.3,NM_130795.2,NM_144488.4,NM_134427.1	180,180,180,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	236/520,634/918,915/1199,	116346435	1,13005	2203	4300	6503	115386256	SO:0001583	missense	5998	exon21			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2743C>T	9.37:g.116346435C>T	ENSP00000363255:p.Arg915Cys	Somatic		Capture	Illumina HiSeq	Phase_I	115386256	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236891	0.79800	2.27E-4	0.0	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.68025	0.39;0.39;-0.1;-0.3;-0.3	5.05	5.05	0.67936	.	0.069886	0.64402	D	0.000019	T	0.73916	0.3648	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.997;0.998	T	0.77117	-0.2706	10	0.87932	D	0	.	15.1196	0.72432	0.0:1.0:0.0:0.0	.	254;811;236;634;805;915	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	C	915;915;634;236;236	ENSP00000363255:R915C;ENSP00000259406:R915C;ENSP00000340284:R634C;ENSP00000420356:R236C;ENSP00000363249:R236C	ENSP00000340284:R634C	R	+	1	0	RGS3	115386256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.928000	0.63447	2.332000	0.79248	0.455000	0.32223	CGC		0.667	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
COL27A1	85301	broad.mit.edu	37	9	116956725	116956725	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:116956725C>T	ENST00000356083.3	+	6	2449	c.2058C>T	c.(2056-2058)caC>caT	p.H686H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	686	Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.H686H(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAAAGGCCCACGATGGGGCAA	0.522																																					p.H686H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2058T	9						.						143.0	149.0	147.0					9																	116956725		2203	4300	6503	115996546	SO:0001819	synonymous_variant	85301	exon6			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2058C>T	9.37:g.116956725C>T		Somatic		Capture	Illumina HiSeq	Phase_I	115996546	NM_032888	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																				0.522	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
PAPPA	5069	broad.mit.edu	37	9	119094664	119094664	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:119094664C>T	ENST00000328252.3	+	12	3683	c.3314C>T	c.(3313-3315)aCg>aTg	p.T1105M	PAPPA_ENST00000534838.1_Missense_Mutation_p.T143M	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1105					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T1105M(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACCTGGTGACGGATGGGACA	0.498																																					p.T1105M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3314T	9						.						153.0	126.0	135.0					9																	119094664		2203	4300	6503	118134485	SO:0001583	missense	5069	exon12				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3314C>T	9.37:g.119094664C>T	ENSP00000330658:p.Thr1105Met	Somatic		Capture	Illumina HiSeq	Phase_I	118134485	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079208	0.94050	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.04156	4.46;3.69	5.83	5.83	0.93111	.	0.091295	0.85682	D	0.000000	T	0.21307	0.0513	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.95	T	0.00014	-1.2406	10	0.87932	D	0	-17.5358	20.1184	0.97949	0.0:1.0:0.0:0.0	.	143;1105	F5GZ19;Q13219	.;PAPP1_HUMAN	M	1105;143	ENSP00000330658:T1105M;ENSP00000441461:T143M	ENSP00000330658:T1105M	T	+	2	0	PAPPA	118134485	1.000000	0.71417	0.967000	0.41034	0.956000	0.61745	7.397000	0.79903	2.769000	0.95229	0.655000	0.94253	ACG		0.498	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
LHX6	26468	broad.mit.edu	37	9	124989285	124989285	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:124989285C>T	ENST00000373755.2	-	2	202	c.94G>A	c.(94-96)Gca>Aca	p.A32T	LHX6_ENST00000559529.1_5'Flank|LHX6_ENST00000394319.4_Missense_Mutation_p.A61T|LHX6_ENST00000541397.2_Missense_Mutation_p.A50T|LHX6_ENST00000373754.2_Missense_Mutation_p.A32T|LHX6_ENST00000340587.3_Missense_Mutation_p.A61T	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	32					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A61T(1)		endometrium(2)|kidney(1)|large_intestine(5)	8						AGAGCTCCTGCCAGGGCCTCG	0.677																																					p.A61T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181A	9						.						47.0	36.0	40.0					9																	124989285		2136	4177	6313	124029106	SO:0001583	missense	26468	exon3			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.94G>A	9.37:g.124989285C>T	ENSP00000362860:p.Ala32Thr	Somatic		Capture	Illumina HiSeq	Phase_I	124029106	NM_199160	A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	37	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684248	0.47991	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.88046	-2.33;-2.3;-2.19;-2.15;-2.2	5.44	3.5	0.40072	.	0.177582	0.48767	D	0.000180	T	0.73329	0.3573	N	0.14661	0.345	0.80722	D	1	B;B;B	0.23249	0.02;0.082;0.004	B;B;B	0.21708	0.027;0.036;0.015	T	0.66508	-0.5906	10	0.15952	T	0.53	.	10.2293	0.43245	0.1166:0.6125:0.2709:0.0	.	32;61;61	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	T	32;32;61;61;50	ENSP00000362860:A32T;ENSP00000362859:A32T;ENSP00000377854:A61T;ENSP00000340137:A61T;ENSP00000441464:A50T	ENSP00000340137:A61T	A	-	1	0	LHX6	124029106	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.836000	0.27545	2.541000	0.85698	0.462000	0.41574	GCA		0.677	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368	
GAPVD1	26130	broad.mit.edu	37	9	128099546	128099546	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:128099546G>A	ENST00000495955.1	+	17	2843	c.2553G>A	c.(2551-2553)tcG>tcA	p.S851S	GAPVD1_ENST00000297933.6_Silent_p.S851S|GAPVD1_ENST00000394083.2_Silent_p.S830S|GAPVD1_ENST00000394104.2_Silent_p.S851S|GAPVD1_ENST00000470056.1_Silent_p.S851S|GAPVD1_ENST00000312123.9_Silent_p.S830S|GAPVD1_ENST00000265956.4_Silent_p.S825S|GAPVD1_ENST00000394105.2_Silent_p.S878S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	851					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S878S(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTAGGCCATCGCATCCACCAC	0.483																																					p.S878S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2634A	9						.						84.0	83.0	83.0					9																	128099546		2203	4300	6503	127139367	SO:0001819	synonymous_variant	26130	exon16				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2553G>A	9.37:g.128099546G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127139367	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.265|9.265	1.044200|1.044200	0.19748|0.19748	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000431329	.|.	.|.	.|.	6.17|6.17	-8.67|-8.67	0.00863|0.00863	.|.	.|.	.|.	.|.	.|.	T|T	0.35970|0.35970	0.0950|0.0950	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41893|0.41893	-0.9483|-0.9483	4|4	.|.	.|.	.|.	.|.	3.7342|3.7342	0.08504|0.08504	0.4662:0.1595:0.289:0.0853|0.4662:0.1595:0.289:0.0853	.|.	.|.	.|.	.|.	T|H	688|688	.|.	.|.	A|R	+|+	1|2	0|0	GAPVD1|GAPVD1	127139367|127139367	0.006000|0.006000	0.16342|0.16342	0.497000|0.497000	0.27552|0.27552	0.994000|0.994000	0.84299|0.84299	-1.173000|-1.173000	0.03108|0.03108	-1.737000|-1.737000	0.01350|0.01350	-0.302000|-0.302000	0.09304|0.09304	GCA|CGC		0.483	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
GLE1	2733	broad.mit.edu	37	9	131301943	131301943	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:131301943A>C	ENST00000309971.4	+	14	2036	c.1930A>C	c.(1930-1932)Atg>Ctg	p.M644L	GLE1_ENST00000539582.1_Missense_Mutation_p.M390L|RP11-216B9.6_ENST00000426704.1_RNA|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Missense_Mutation_p.M644L	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	644					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.M644L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GTTCTGGAAGATGCTAATTCT	0.463																																					p.M644L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1930C	9						.						141.0	123.0	129.0					9																	131301943		2203	4300	6503	130341764	SO:0001583	missense	2733	exon14			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1930A>C	9.37:g.131301943A>C	ENSP00000308622:p.Met644Leu	Somatic		Capture	Illumina HiSeq	Phase_I	130341764	NM_001003722	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	A	2.441	-0.328547	0.05314	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.66099	-0.19;-0.19;-0.19	5.85	5.85	0.93711	.	0.141593	0.64402	D	0.000004	T	0.28532	0.0706	N	0.01297	-0.9	0.33688	D	0.612971	B;B	0.12630	0.006;0.005	B;B	0.08055	0.003;0.003	T	0.37911	-0.9685	10	0.02654	T	1	-23.0278	11.5902	0.50941	0.7373:0.2627:0.0:0.0	.	644;644	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	L	644;644;390	ENSP00000308622:M644L;ENSP00000361856:M644L;ENSP00000438670:M390L	ENSP00000308622:M644L	M	+	1	0	GLE1	130341764	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.078000	0.41567	2.238000	0.73509	0.533000	0.62120	ATG		0.463	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722	
SOHLH1	402381	broad.mit.edu	37	9	138588564	138588564	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:138588564C>T	ENST00000298466.5	-	5	615	c.555G>A	c.(553-555)gcG>gcA	p.A185A	SOHLH1_ENST00000425225.1_Silent_p.A185A	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	185					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A185A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCTGGAGGACGCAAGGATGT	0.652																																					p.A185A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G555A	9						.						57.0	55.0	56.0					9																	138588564		2203	4300	6503	137728385	SO:0001819	synonymous_variant	402381	exon5			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.555G>A	9.37:g.138588564C>T		Somatic		Capture	Illumina HiSeq	Phase_I	137728385	NM_001012415	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	CCDS35174.1																																																																																				0.652	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415	
RFX3	5991	broad.mit.edu	37	9	3271070	3271070	+	Missense_Mutation	SNP	A	A	T	rs370348559	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:3271070A>T	ENST00000382004.3	-	11	1446	c.1135T>A	c.(1135-1137)Ttg>Atg	p.L379M	RFX3_ENST00000302303.1_Missense_Mutation_p.L379M|RFX3_ENST00000358730.2_Missense_Mutation_p.L379M	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	379					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L379M(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTTTGCCACAATTTTTCTATC	0.373																																					p.L379M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1135A	9						.						180.0	165.0	170.0					9																	3271070		2203	4300	6503	3261070	SO:0001583	missense	5991	exon11			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1135T>A	9.37:g.3271070A>T	ENSP00000371434:p.Leu379Met	Somatic		Capture	Illumina HiSeq	Phase_I	3261070	NM_134428	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	a	17.45	3.393180	0.62066	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.09163	3.01;3.01;3.01	5.76	-3.38	0.04883	.	0.000000	0.64402	D	0.000001	T	0.27169	0.0666	M	0.80616	2.505	0.50813	D	0.99989	D;D;B	0.59767	0.986;0.977;0.418	P;D;B	0.63381	0.89;0.914;0.304	T	0.21381	-1.0247	10	0.59425	D	0.04	-7.9183	14.2255	0.65855	0.4465:0.0:0.5535:0.0	.	379;379;379	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	M	379	ENSP00000371434:L379M;ENSP00000351574:L379M;ENSP00000303847:L379M	ENSP00000303847:L379M	L	-	1	2	RFX3	3261070	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	0.984000	0.29565	-0.358000	0.08162	-0.289000	0.09944	TTG		0.373	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919	
RIC1	57589	broad.mit.edu	37	9	5732429	5732429	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:5732429G>A	ENST00000414202.2	+	7	953	c.762G>A	c.(760-762)acG>acA	p.T254T	KIAA1432_ENST00000251879.6_Silent_p.T254T|KIAA1432_ENST00000418622.3_Silent_p.T175T|KIAA1432_ENST00000381532.2_Silent_p.T175T|KIAA1432_ENST00000449720.2_Silent_p.T175T	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.T175T(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGACGGAACGTGTGTAGCAG	0.353																																					p.T175T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G525A	9						.						203.0	193.0	197.0					9																	5732429		2203	4300	6503	5722429	SO:0001819	synonymous_variant	57589	exon6																														ENST00000414202.2:c.762G>A	9.37:g.5732429G>A		Somatic		Capture	Illumina HiSeq	Phase_I	5722429	NM_020829		De_novo_Start_OutOfFrame	SNP	ENST00000414202.2	37	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	9.909	1.208966	0.22205	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.1	-4.51	0.03483	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38929	-0.9638	4	.	.	.	-14.1903	1.7165	0.02902	0.1242:0.1856:0.3219:0.3684	.	.	.	.	M	183	.	.	V	+	1	0	KIAA1432	5722429	0.633000	0.27181	0.988000	0.46212	0.992000	0.81027	-0.455000	0.06762	-0.585000	0.05905	-0.313000	0.08912	GTG		0.353	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		
UHRF2	115426	broad.mit.edu	37	9	6477754	6477754	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:6477754A>T	ENST00000276893.5	+	6	1274	c.1106A>T	c.(1105-1107)tAt>tTt	p.Y369F		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	369					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y369F(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AATGTGGCTTATCATATTTAC	0.403																																					p.Y369F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1106T	9						.						210.0	187.0	195.0					9																	6477754		2203	4300	6503	6467754	SO:0001583	missense	115426	exon6			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1106A>T	9.37:g.6477754A>T	ENSP00000276893:p.Tyr369Phe	Somatic		Capture	Illumina HiSeq	Phase_I	6467754	NM_152896	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	4.437	0.080874	0.08533	.	.	ENSG00000147854	ENST00000276893	D	0.82433	-1.61	4.69	2.12	0.27331	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.215292	0.41396	N	0.000899	T	0.59797	0.2220	N	0.05280	-0.08	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.20384	0.029;0.007	T	0.53222	-0.8469	10	0.02654	T	1	-9.4428	9.6495	0.39888	0.709:0.0:0.0:0.291	.	146;369	B3KV82;Q96PU4	.;UHRF2_HUMAN	F	369	ENSP00000276893:Y369F	ENSP00000276893:Y369F	Y	+	2	0	UHRF2	6467754	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.139000	0.50577	0.634000	0.30469	0.477000	0.44152	TAT		0.403	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306	
B4GALT1	2683	broad.mit.edu	37	9	33120442	33120442	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:33120442C>T	ENST00000379731.4	-	3	997	c.811G>A	c.(811-813)Gtt>Att	p.V271I	B4GALT1_ENST00000535206.1_Intron|B4GALT1_ENST00000541851.1_Missense_Mutation_p.V18I	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	271					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)	p.V271I(1)		endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TCCATTGCAACGGAAATGTGC	0.443																																					p.V271I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	9						.						189.0	155.0	167.0					9																	33120442		2203	4300	6503	33110442	SO:0001583	missense	2683	exon3			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.811G>A	9.37:g.33120442C>T	ENSP00000369055:p.Val271Ile	Somatic		Capture	Illumina HiSeq	Phase_I	33110442	NM_001497	B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440514	0.63067	.	.	ENSG00000086062	ENST00000379731;ENST00000541701;ENST00000541851	T;T	0.43688	0.94;0.94	5.71	5.71	0.89125	.	0.052649	0.85682	D	0.000000	T	0.47985	0.1475	L	0.37850	1.14	0.58432	D	0.999999	D	0.58970	0.984	P	0.54856	0.762	T	0.19877	-1.0292	10	0.27785	T	0.31	-21.3478	17.3574	0.87340	0.0:1.0:0.0:0.0	.	271	P15291	B4GT1_HUMAN	I	271;228;18	ENSP00000369055:V271I;ENSP00000445037:V18I	ENSP00000369055:V271I	V	-	1	0	B4GALT1	33110442	1.000000	0.71417	0.731000	0.30826	0.034000	0.12701	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	GTT		0.443	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497	
FRMPD1	22844	broad.mit.edu	37	9	37744869	37744869	+	Missense_Mutation	SNP	G	G	A	rs373579365		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:37744869G>A	ENST00000539465.1	+	16	3433	c.2840G>A	c.(2839-2841)cGg>cAg	p.R947Q	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R947Q			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	947						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R947Q(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ATTCGCTTCCGGATTGACCCC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21582	0.0		0.0	False		,,,				2504	0.001				p.R947Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2840A	9						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	110.0	113.0		2840	4.2	1.0	9		113	0,8600		0,0,4300	no	missense	FRMPD1	NM_014907.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	947/1579	37744869	1,13005	2203	4300	6503	37734869	SO:0001583	missense	22844	exon16			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2840G>A	9.37:g.37744869G>A	ENSP00000444411:p.Arg947Gln	Somatic		Capture	Illumina HiSeq	Phase_I	37734869	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925761	0.52759	2.27E-4	0.0	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.10573	2.86;2.86	5.11	4.21	0.49690	.	0.485813	0.22425	N	0.060226	T	0.08626	0.0214	L	0.40543	1.245	0.80722	D	1	B	0.32653	0.379	B	0.24394	0.053	T	0.15752	-1.0426	10	0.39692	T	0.17	-5.2545	10.6188	0.45467	0.0935:0.0:0.9065:0.0	.	947	Q5SYB0	FRPD1_HUMAN	Q	947	ENSP00000366995:R947Q;ENSP00000444411:R947Q	ENSP00000366995:R947Q	R	+	2	0	FRMPD1	37734869	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	2.187000	0.42602	2.372000	0.80975	0.561000	0.74099	CGG		0.517	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
ALDH1B1	219	broad.mit.edu	37	9	38397082	38397082	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:38397082C>T	ENST00000377698.3	+	2	1490	c.1337C>T	c.(1336-1338)gCg>gTg	p.A446V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	446					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.A446V(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GGCCTGGCTGCGGCTGTGTTC	0.577																																					p.A446V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1337T	9						.						65.0	63.0	64.0					9																	38397082		2203	4300	6503	38387082	SO:0001583	missense	219	exon2			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1337C>T	9.37:g.38397082C>T	ENSP00000366927:p.Ala446Val	Somatic		Capture	Illumina HiSeq	Phase_I	38387082	NM_000692	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729731	0.48833	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	T	0.81078	-1.45	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000005	D	0.92391	0.7585	M	0.94063	3.49	0.53688	D	0.999976	D	0.89917	1.0	D	0.81914	0.995	D	0.93898	0.7186	10	0.87932	D	0	.	17.326	0.87248	0.0:1.0:0.0:0.0	.	446	P30837	AL1B1_HUMAN	V	446;147	ENSP00000366927:A446V	ENSP00000366927:A446V	A	+	2	0	ALDH1B1	38387082	1.000000	0.71417	0.916000	0.36221	0.253000	0.25986	5.732000	0.68563	2.685000	0.91497	0.655000	0.94253	GCG		0.577	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		
APBA1	320	broad.mit.edu	37	9	72064691	72064691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:72064691C>A	ENST00000265381.4	-	10	2212	c.1990G>T	c.(1990-1992)Gga>Tga	p.G664*		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	664	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G664*(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AGGATTTCTCCTTTCTGCTTC	0.493																																					p.G664X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1990T	9						.						61.0	59.0	60.0					9																	72064691		2203	4300	6503	71254511	SO:0001587	stop_gained	320	exon10			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1990G>T	9.37:g.72064691C>A	ENSP00000265381:p.Gly664*	Somatic		Capture	Illumina HiSeq	Phase_I	71254511	NM_001163	O14914|O60570|Q5VYR8	Nonsense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	41	9.055383	0.99050	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7407	20.0124	0.97464	0.0:1.0:0.0:0.0	.	.	.	.	X	664	.	ENSP00000265381:G664X	G	-	1	0	APBA1	71254511	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.749000	0.94314	0.655000	0.94253	GGA		0.493	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
TRPM6	140803	broad.mit.edu	37	9	77400907	77400907	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:77400907A>T	ENST00000360774.1	-	21	3039	c.2802T>A	c.(2800-2802)ttT>ttA	p.F934L	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.F929L|TRPM6_ENST00000449912.2_Missense_Mutation_p.F929L|TRPM6_ENST00000376864.4_Missense_Mutation_p.F934L|TRPM6_ENST00000451710.3_Missense_Mutation_p.F934L|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	934					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)	p.F934L(1)		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						CCGCTGTGTGAAAAGGAGGGT	0.478																																					p.F929L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2787A	9						.						210.0	188.0	196.0					9																	77400907		2203	4300	6503	76590727	SO:0001583	missense	140803	exon21			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.2802T>A	9.37:g.77400907A>T	ENSP00000354006:p.Phe934Leu	Somatic		Capture	Illumina HiSeq	Phase_I	76590727	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	4.931	0.172997	0.09391	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.32	-10.4	0.00318	Ion transport (1);	0.749227	0.13841	N	0.359005	T	0.39860	0.1094	N	0.17278	0.47	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.13495	-1.0507	10	0.26408	T	0.33	.	5.5715	0.17200	0.2128:0.3089:0.3984:0.08	.	597;934;929	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	L	934;934;929;929;934;597;597	ENSP00000354006:F934L;ENSP00000407341:F934L;ENSP00000396672:F929L;ENSP00000354962:F929L;ENSP00000366060:F934L	ENSP00000309693:F597L	F	-	3	2	TRPM6	76590727	0.004000	0.15560	0.057000	0.19452	0.214000	0.24535	-0.576000	0.05854	-1.164000	0.02790	-0.398000	0.06409	TTT		0.478	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77436706	77436706	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:77436706G>A	ENST00000360774.1	-	8	1126	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	TRPM6_ENST00000376872.3_Missense_Mutation_p.P297S|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Missense_Mutation_p.P292S|TRPM6_ENST00000449912.2_Missense_Mutation_p.P292S|TRPM6_ENST00000376864.4_Missense_Mutation_p.P297S|TRPM6_ENST00000451710.3_Missense_Mutation_p.P297S|TRPM6_ENST00000376871.3_Missense_Mutation_p.P297S	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	297					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)	p.P297S(1)		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						ATGACGTTGGGACCGCCTTCC	0.582																																					p.P292S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874T	9						.						153.0	107.0	122.0					9																	77436706		2203	4300	6503	76626526	SO:0001583	missense	140803	exon8			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.889C>T	9.37:g.77436706G>A	ENSP00000354006:p.Pro297Ser	Somatic		Capture	Illumina HiSeq	Phase_I	76626526	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551594	0.86127	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.47	5.47	0.80525	.	0.048048	0.85682	D	0.000000	D	0.87160	0.6108	M	0.89478	3.035	0.50171	D	0.999855	D;D;D;D	0.64830	0.983;0.983;0.994;0.993	P;P;P;P	0.62435	0.808;0.808;0.902;0.864	D	0.89096	0.3486	10	0.62326	D	0.03	.	16.3679	0.83341	0.0:0.1316:0.8684:0.0	.	297;297;297;292	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	S	297;297;297;297;292;292;297	ENSP00000354006:P297S;ENSP00000407341:P297S;ENSP00000366068:P297S;ENSP00000366067:P297S;ENSP00000396672:P292S;ENSP00000354962:P292S;ENSP00000366060:P297S	ENSP00000354006:P297S	P	-	1	0	TRPM6	76626526	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	6.544000	0.73878	2.567000	0.86603	0.561000	0.74099	CCC		0.582	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
GNA14	9630	broad.mit.edu	37	9	80049407	80049407	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:80049407A>G	ENST00000341700.6	-	3	854	c.341T>C	c.(340-342)gTg>gCg	p.V114A	GNA14_ENST00000464095.1_5'Flank	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	114					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V114A(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GACCTTGTCCACTTCCACTTC	0.522											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V114A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T341C	9						.						118.0	96.0	104.0					9																	80049407		2203	4300	6503	79239227	SO:0001583	missense	9630	exon3			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.341T>C	9.37:g.80049407A>G	ENSP00000365807:p.Val114Ala	Somatic	1195	Capture	Illumina HiSeq	Phase_I	79239227	NM_004297	B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	A	7.042	0.562653	0.13498	.	.	ENSG00000156049	ENST00000341700	D	0.87412	-2.25	5.19	4.05	0.47172	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	N	0.17248	0.465	0.51233	D	0.999919	B	0.06786	0.001	B	0.15052	0.012	T	0.63800	-0.6555	10	0.08599	T	0.76	.	10.6564	0.45678	0.9243:0.0:0.0757:0.0	.	114	O95837	GNA14_HUMAN	A	114	ENSP00000365807:V114A	ENSP00000365807:V114A	V	-	2	0	GNA14	79239227	1.000000	0.71417	0.782000	0.31804	0.836000	0.47400	7.106000	0.77039	1.002000	0.39104	0.533000	0.62120	GTG		0.522	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1		
ZCCHC6	79670	broad.mit.edu	37	9	88916209	88916209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:88916209G>A	ENST00000375963.3	-	26	4574	c.4402C>T	c.(4402-4404)Cag>Tag	p.Q1468*	ZCCHC6_ENST00000375961.2_Nonsense_Mutation_p.Q1430*|ZCCHC6_ENST00000277141.6_Nonsense_Mutation_p.Q757*|ZCCHC6_ENST00000375957.1_Nonsense_Mutation_p.Q368*|ZCCHC6_ENST00000375960.2_Nonsense_Mutation_p.Q1232*	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1468					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.Q1468*(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCTTTAAACTGTGGGCATTCC	0.383																																					p.Q1468X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4402T	9						.						121.0	114.0	117.0					9																	88916209		2203	4300	6503	88106029	SO:0001587	stop_gained	79670	exon26			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4402C>T	9.37:g.88916209G>A	ENSP00000365130:p.Gln1468*	Somatic		Capture	Illumina HiSeq	Phase_I	88106029	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Nonsense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	44	11.025408	0.99504	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	.	.	.	5.24	5.24	0.73138	.	0.150291	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1057	19.0205	0.92912	0.0:0.0:1.0:0.0	.	.	.	.	X	757;1232;1430;368;1468	.	ENSP00000277141:Q757X	Q	-	1	0	ZCCHC6	88106029	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.721000	0.61951	2.706000	0.92434	0.655000	0.94253	CAG		0.383	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
DAPK1	1612	broad.mit.edu	37	9	90321079	90321079	+	Silent	SNP	C	C	T	rs371818389		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:90321079C>T	ENST00000408954.3	+	26	3428	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	DAPK1_ENST00000491893.1_Silent_p.D965D|DAPK1_ENST00000472284.1_Silent_p.D1031D|DAPK1_ENST00000469640.2_Silent_p.D1056D|DAPK1_ENST00000358077.5_Silent_p.D1031D	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1031					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D1032D(1)|p.D1031D(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAGTTCAGGACGTGCTGCTCC	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.D1031D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3093T	9						.						58.0	63.0	61.0					9																	90321079		2084	4206	6290	89510899	SO:0001819	synonymous_variant	1612	exon26	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3093C>T	9.37:g.90321079C>T		Somatic		Capture	Illumina HiSeq	Phase_I	89510899	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																				0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
DAPK1	1612	broad.mit.edu	37	9	90321802	90321802	+	Frame_Shift_Del	DEL	G	G	-	rs56169226	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:90321802delG	ENST00000408954.3	+	26	4151	c.3816delG	c.(3814-3816)atgfs	p.M1272fs	DAPK1_ENST00000491893.1_Frame_Shift_Del_p.M1206fs|DAPK1_ENST00000472284.1_Frame_Shift_Del_p.M1272fs|DAPK1_ENST00000469640.2_Frame_Shift_Del_p.M1297fs|DAPK1_ENST00000358077.5_Frame_Shift_Del_p.M1272fs	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1272			M -> I (in dbSNP:rs56169226). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y1276fs*31(1)|p.Y1275fs*31(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAACACCATGGGGGGGTACA	0.582									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.M1272fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.3816delG	9						.						51.0	58.0	56.0					9																	90321802		2098	4219	6317	89511622	SO:0001589	frameshift_variant	1612	exon26	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3816delG	9.37:g.90321802delG	ENSP00000386135:p.Met1272fs	Somatic		Capture	Illumina HiSeq	Phase_I	89511622	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Frame_Shift_Del	DEL	ENST00000408954.3	37	CCDS43842.1																																																																																				0.582	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
ECM2	1842	broad.mit.edu	37	9	95277256	95277256	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:95277256C>T	ENST00000344604.5	-	4	860	c.711G>A	c.(709-711)ggG>ggA	p.G237G	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.G215G	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	237					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.G237G(1)|p.G215G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TGTAAAGTTGCCCCTGATTTC	0.498																																					p.G237G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G711A	9						.						209.0	220.0	216.0					9																	95277256		2203	4300	6503	94317077	SO:0001819	synonymous_variant	1842	exon4			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.711G>A	9.37:g.95277256C>T		Somatic		Capture	Illumina HiSeq	Phase_I	94317077	NM_001393	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	CCDS6698.1																																																																																				0.498	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	
MSANTD3	91283	broad.mit.edu	37	9	103212999	103212999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:103212999delA	ENST00000395067.2	+	3	850	c.579delA	c.(577-579)ttafs	p.L193fs	MSANTD3-TMEFF1_ENST00000502978.1_Intron|TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000489377.1_3'UTR	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	193								p.K195fs*18(1)		endometrium(2)|lung(2)	4						AAGGTGCTTTAAAAAAGATGC	0.433																																					p.L193fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.579delA	9						.						80.0	71.0	74.0					9																	103212999		2203	4300	6503	102252820	SO:0001589	frameshift_variant	91283	exon3			BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.579delA	9.37:g.103212999delA	ENSP00000378506:p.Leu193fs	Somatic		Capture	Illumina HiSeq	Phase_I	102252820	NM_080655	B2RC35|Q5T726|Q5T727|Q5T728	Frame_Shift_Del	DEL	ENST00000395067.2	37	CCDS6749.1																																																																																				0.433	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655	
RGS3	5998	broad.mit.edu	37	9	116299119	116299121	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	AGA	AGA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:116299119_116299121delAGA	ENST00000374140.2	+	20	2167_2169	c.1958_1960delAGA	c.(1957-1962)cagaag>cag	p.K655del	RGS3_ENST00000394646.3_In_Frame_Del_p.K374del|RGS3_ENST00000350696.5_In_Frame_Del_p.K655del|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000317613.6_In_Frame_Del_p.K543del|RGS3_ENST00000374136.1_In_Frame_Del_p.K281del|RGS3_ENST00000343817.5_In_Frame_Del_p.K374del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	655					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.K551delK(1)|p.K655delK(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCGCAGGAGCAGAAGAAGAGAGT	0.576																																					p.653_654del												.	.	2	Deletion - In frame(2)	large_intestine(2)	c.1958_1960del	9						.																																			115338942	SO:0001651	inframe_deletion	5998	exon20			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1958_1960delAGA	9.37:g.116299125_116299127delAGA	ENSP00000363255:p.Lys655del	Somatic		Capture	Illumina HiSeq	Phase_I	115338940	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	In_Frame_Del	DEL	ENST00000374140.2	37	CCDS43869.1																																																																																				0.576	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
SLC25A25	114789	broad.mit.edu	37	9	130854316	130854316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:130854316delA	ENST00000373066.5	+	1	574	c.167delA	c.(166-168)gaafs	p.E56fs	SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Frame_Shift_Del_p.E56fs	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	102	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R58fs*30(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGGCCACGGAAAAAAGACCC	0.567																																					p.E56fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.167delA	9						.						101.0	106.0	105.0					9																	130854316		1910	4131	6041	129894137	SO:0001589	frameshift_variant	114789	exon1			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.167delA	9.37:g.130854316delA	ENSP00000362157:p.Glu56fs	Somatic		Capture	Illumina HiSeq	Phase_I	129894137	NM_001006642	Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Frame_Shift_Del	DEL	ENST00000373066.5	37	CCDS59146.1																																																																																				0.567	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054406.1	NM_052901	
CACNA1B	774	broad.mit.edu	37	9	140807684	140807684	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chr9:140807684C>T	ENST00000371372.1	+	4	728	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R195C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R195C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R195C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R195C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	195					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.R195C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGGGCTGTGCGTGTGCTGAG	0.562																																					p.R195C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583T	9						.						65.0	69.0	68.0					9																	140807684		2096	4216	6312	139927505	SO:0001583	missense	774	exon4			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.583C>T	9.37:g.140807684C>T	ENSP00000360423:p.Arg195Cys	Somatic		Capture	Illumina HiSeq	Phase_I	139927505	NM_000718	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208612	0.58343	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17	4.49	3.51	0.40186	.	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.99942	5.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96771	0.9568	10	0.87932	D	0	.	14.263	0.66097	0.2088:0.7912:0.0:0.0	.	195	B1AQK6	.	C	195	ENSP00000360423:R195C;ENSP00000277551:R195C;ENSP00000360414:R195C;ENSP00000360408:R195C;ENSP00000360406:R195C	ENSP00000277551:R195C	R	+	1	0	CACNA1B	139927505	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	1.731000	0.38135	2.319000	0.78375	0.561000	0.74099	CGT		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
USP11	8237	broad.mit.edu	37	X	47103936	47103937	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:47103936_47103937insG	ENST00000218348.3	+	14	1959_1960	c.1959_1960insG	c.(1960-1962)gggfs	p.G654fs	USP11_ENST00000377107.2_Frame_Shift_Ins_p.G611fs	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	654	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.D655fs*2(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATGAGGACGATGGGGATGAGAA	0.579																																					p.D653fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1959_1960insG	X						.																																			46988881	SO:0001589	frameshift_variant	8237	exon14			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1963dupG	X.37:g.47103940_47103940dupG	ENSP00000218348:p.Gly654fs	Somatic		Capture	Illumina HiSeq	Phase_I	46988880	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Frame_Shift_Ins	INS	ENST00000218348.3	37	CCDS14277.1																																																																																				0.579	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
AMER1	139285	broad.mit.edu	37	X	63410914	63410915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:63410914_63410915insG	ENST00000330258.3	-	2	2524_2525	c.2252_2253insC	c.(2251-2253)cctfs	p.P751fs	AMER1_ENST00000403336.1_Frame_Shift_Ins_p.P751fs|AMER1_ENST00000374869.3_Frame_Shift_Ins_p.P751fs	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	751					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.E752fs*1(2)									CTGGATCTTCAGGGGGTGAATA	0.51																																					p.P751fs												.	.	69	Whole gene deletion(67)|Insertion - Frameshift(2)	kidney(65)|large_intestine(3)|ovary(1)	c.2253_2254insC	X						.																																			63327640	SO:0001589	frameshift_variant	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2253dupC	X.37:g.63410919_63410919dupG	ENSP00000329117:p.Pro751fs	Somatic		Capture	Illumina HiSeq	Phase_I	63327639	NM_152424	A2IB86|Q8N885	Frame_Shift_Ins	INS	ENST00000330258.3	37	CCDS14377.2																																																																																				0.510	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
STARD8	9754	broad.mit.edu	37	X	67943519	67943520	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:67943519_67943520insC	ENST00000252336.6	+	12	2983_2984	c.2611_2612insC	c.(2611-2613)gccfs	p.A871fs	STARD8_ENST00000374599.3_Frame_Shift_Ins_p.A951fs|STARD8_ENST00000374597.3_Frame_Shift_Ins_p.A871fs	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	871	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.A874fs*16(2)|p.A954fs*16(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGAGGTGGCAGCCCCCCCAGCT	0.678																																					p.A951fs												.	.	3	Insertion - Frameshift(3)	large_intestine(3)	c.2851_2852insC	X						.		,,	19,3628		1,14,3,1555,504					,,	3.6	0.0			14	27,6388		0,14,13,2327,1720	no	frameshift,frameshift,frameshift	STARD8	NM_014725.4,NM_001142504.2,NM_001142503.2	,,	1,28,16,3882,2224	A1A1,A1R,A1,RR,R		0.4209,0.521,0.4572	,,	,,		46,10016				67860245	SO:0001589	frameshift_variant	9754	exon13			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2618dupC	X.37:g.67943526_67943526dupC	ENSP00000252336:p.Ala871fs	Somatic		Capture	Illumina HiSeq	Phase_I	67860244	NM_001142503	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Frame_Shift_Ins	INS	ENST00000252336.6	37	CCDS14390.1																																																																																				0.678	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
NXF3	56000	broad.mit.edu	37	X	102334345	102334345	+	Missense_Mutation	SNP	G	G	A	rs371513942		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:102334345G>A	ENST00000395065.3	-	15	1378	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	NXF3_ENST00000425644.1_Missense_Mutation_p.A98V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	426	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.A426V(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTAGGCAACGCACTGAGGGA	0.557													g|||	15	0.00397351	0.0	0.0	3775	,	,		13197	0.0		0.0	False		,,,				2504	0.0153				p.A426V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1277T	X						.	A	VAL/ALA	0,3835		0,0,1632,571	167.0	146.0	153.0		1277	-1.5	0.0	X		153	1,6727		0,1,2427,1872	no	missense	NXF3	NM_022052.1	64	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	426/532	102334345	1,10562	2203	4300	6503	102221001	SO:0001583	missense	56000	exon15			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1277C>T	X.37:g.102334345G>A	ENSP00000378504:p.Ala426Val	Somatic		Capture	Illumina HiSeq	Phase_I	102221001	NM_022052	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	g	7.612	0.674994	0.14841	0.0	1.49E-4	ENSG00000147206	ENST00000395065;ENST00000425644	T;T	0.61859	0.07;0.07	4.22	-1.49	0.08718	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.533478	0.19470	N	0.113468	T	0.25717	0.0626	N	0.04724	-0.175	0.27497	N	0.95211	B;B	0.22080	0.064;0.024	B;B	0.18871	0.023;0.018	T	0.08229	-1.0732	10	0.26408	T	0.33	-0.1389	3.0704	0.06229	0.2865:0.0:0.2405:0.473	.	322;426	E9PEY7;Q9H4D5	.;NXF3_HUMAN	V	426;98	ENSP00000378504:A426V;ENSP00000401026:A98V	ENSP00000378504:A426V	A	-	2	0	NXF3	102221001	0.830000	0.29337	0.019000	0.16419	0.011000	0.07611	0.489000	0.22387	-0.129000	0.11620	-1.428000	0.01097	GCG		0.557	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	
AGTR2	186	broad.mit.edu	37	X	115303976	115303976	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:115303976A>G	ENST00000371906.4	+	3	633	c.443A>G	c.(442-444)tAc>tGc	p.Y148C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	148					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.Y148C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TCTGTCATCTACCCCTTTCTG	0.388																																					p.Y148C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A443G	X						.						194.0	180.0	185.0					X																	115303976		2203	4300	6503	115218004	SO:0001583	missense	186	exon3			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.443A>G	X.37:g.115303976A>G	ENSP00000360973:p.Tyr148Cys	Somatic		Capture	Illumina HiSeq	Phase_I	115218004	NM_000686	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.671941	0.29693	.	.	ENSG00000180772	ENST00000371906	T	0.38401	1.14	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.201005	0.44483	D	0.000446	T	0.51363	0.1670	L	0.52011	1.625	0.46096	D	0.998861	D	0.89917	1.0	D	0.74674	0.984	T	0.53823	-0.8384	10	0.87932	D	0	-6.7555	11.0559	0.47918	1.0:0.0:0.0:0.0	.	148	P50052	AGTR2_HUMAN	C	148	ENSP00000360973:Y148C	ENSP00000360973:Y148C	Y	+	2	0	AGTR2	115218004	0.958000	0.32768	0.892000	0.35008	0.622000	0.37654	2.403000	0.44530	1.734000	0.51633	0.412000	0.27726	TAC		0.388	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686	
TENM1	10178	broad.mit.edu	37	X	123514978	123514978	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:123514978G>A	ENST00000371130.3	-	31	7649	c.7586C>T	c.(7585-7587)gCc>gTc	p.A2529V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.A2536V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2529					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A2531V(1)									ATCCTTGATGGCAAATTTTAT	0.458																																					p.A2529V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7586T	X						.						80.0	78.0	78.0					X																	123514978		2203	4300	6503	123342659	SO:0001583	missense	10178	exon31			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7586C>T	X.37:g.123514978G>A	ENSP00000360171:p.Ala2529Val	Somatic		Capture	Illumina HiSeq	Phase_I	123342659	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961573	0.74016	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86769	-2.17;-2.13	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.92734	0.7690	M	0.63843	1.955	0.80722	D	1	D;P;D	0.69078	0.997;0.615;0.966	D;B;P	0.75020	0.985;0.219;0.621	D	0.93124	0.6527	10	0.87932	D	0	.	19.0992	0.93266	0.0:0.0:1.0:0.0	.	2535;2536;2529	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	2529;2536	ENSP00000360171:A2529V;ENSP00000403954:A2536V	ENSP00000360171:A2529V	A	-	2	0	ODZ1	123342659	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.460000	0.83146	0.600000	0.82982	GCC		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
EGFL6	25975	broad.mit.edu	37	X	13626535	13626535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:13626535G>T	ENST00000361306.1	+	7	1005	c.748G>T	c.(748-750)Gga>Tga	p.G250*	EGFL6_ENST00000380602.3_Nonsense_Mutation_p.G250*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	250	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.G250*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						ATGCAAGCAGGGATATAAAGG	0.428																																					p.G250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G748T	X						.						248.0	197.0	214.0					X																	13626535		2203	4300	6503	13536456	SO:0001587	stop_gained	25975	exon7			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.748G>T	X.37:g.13626535G>T	ENSP00000355126:p.Gly250*	Somatic		Capture	Illumina HiSeq	Phase_I	13536456	NM_001167890	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Nonsense_Mutation	SNP	ENST00000361306.1	37	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	39	7.775547	0.98483	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6405	0.88135	0.0:0.0:1.0:0.0	.	.	.	.	X	250	.	ENSP00000355126:G250X	G	+	1	0	EGFL6	13536456	1.000000	0.71417	0.916000	0.36221	0.944000	0.59088	9.261000	0.95576	2.094000	0.63399	0.583000	0.79449	GGA		0.428	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507	
DCAF12L2	340578	broad.mit.edu	37	X	125299604	125299604	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:125299604C>T	ENST00000360028.2	-	1	330	c.304G>A	c.(304-306)Gcg>Acg	p.A102T	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A102T			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	102								p.A102T(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACTGTGACGCGAACACCTTG	0.657																																					p.A102T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	X						.						65.0	58.0	60.0					X																	125299604		2203	4300	6503	125127285	SO:0001583	missense	340578	exon1			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.304G>A	X.37:g.125299604C>T	ENSP00000353128:p.Ala102Thr	Somatic		Capture	Illumina HiSeq	Phase_I	125127285	NM_001013628	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.552524	0.86127	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.50001	0.76;0.76	3.42	3.42	0.39159	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.60534	0.2276	M	0.80422	2.495	0.42084	D	0.991268	D	0.69078	0.997	P	0.53988	0.739	T	0.67902	-0.5550	9	0.59425	D	0.04	.	11.9709	0.53063	0.0:1.0:0.0:0.0	.	102	Q5VW00	DC122_HUMAN	T	102	ENSP00000441489:A102T;ENSP00000353128:A102T	ENSP00000353128:A102T	A	-	1	0	DCAF12L2	125127285	1.000000	0.71417	0.832000	0.32986	0.886000	0.51366	6.967000	0.76079	1.968000	0.57251	0.458000	0.33432	GCG		0.657	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
F9	2158	broad.mit.edu	37	X	138612969	138612969	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:138612969A>G	ENST00000218099.2	+	1	53	c.46A>G	c.(46-48)Acc>Gcc	p.T16A	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Missense_Mutation_p.T16A	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	16					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.T16A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGGCCTCATCACCATCTGCCT	0.393																																					p.T16A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A46G	X						.						294.0	236.0	256.0					X																	138612969		2203	4300	6503	138440635	SO:0001583	missense	2158	exon1			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.46A>G	X.37:g.138612969A>G	ENSP00000218099:p.Thr16Ala	Somatic		Capture	Illumina HiSeq	Phase_I	138440635	NM_000133	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	a	10.47	1.360604	0.24598	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.91464	-2.85;-2.85	5.08	3.88	0.44766	.	0.813752	0.11406	N	0.567309	D	0.84120	0.5402	L	0.38175	1.15	0.20703	N	0.999869	B;B	0.17465	0.022;0.002	B;B	0.12156	0.006;0.007	T	0.67389	-0.5683	10	0.16896	T	0.51	.	8.2686	0.31831	0.8023:0.1977:0.0:0.0	.	16;16	Q5FBE1;P00740	.;FA9_HUMAN	A	16	ENSP00000218099:T16A;ENSP00000377650:T16A	ENSP00000218099:T16A	T	+	1	0	F9	138440635	0.911000	0.30947	0.920000	0.36463	0.996000	0.88848	0.752000	0.26362	0.575000	0.29434	0.478000	0.44815	ACC		0.393	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
SLITRK4	139065	broad.mit.edu	37	X	142717079	142717079	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:142717079G>A	ENST00000381779.4	-	2	2071	c.1846C>T	c.(1846-1848)Cct>Tct	p.P616S	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P616S|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P616S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	616						integral component of membrane (GO:0016021)		p.P616S(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGACAGAGGCACTGGCCCA	0.453																																					p.P616S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1846T	X						.						81.0	82.0	81.0					X																	142717079		2203	4300	6503	142544745	SO:0001583	missense	139065	exon2			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1846C>T	X.37:g.142717079G>A	ENSP00000371198:p.Pro616Ser	Somatic		Capture	Illumina HiSeq	Phase_I	142544745	NM_173078	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500420	0.64298	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.58652	0.32;0.32;0.32	5.71	5.71	0.89125	.	0.000000	0.85682	U	0.000000	T	0.66858	0.2832	L	0.31476	0.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66881	-0.5811	10	0.44086	T	0.13	-5.5165	17.2799	0.87125	0.0:0.0:1.0:0.0	.	616	Q8IW52	SLIK4_HUMAN	S	616	ENSP00000371198:P616S;ENSP00000349400:P616S;ENSP00000336627:P616S	ENSP00000336627:P616S	P	-	1	0	SLITRK4	142544745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.404000	0.81709	0.600000	0.82982	CCT		0.453	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
GLRA2	2742	broad.mit.edu	37	X	14548213	14548213	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:14548213T>A	ENST00000218075.4	+	1	564	c.34T>A	c.(34-36)Ttg>Atg	p.L12M	GLRA2_ENST00000355020.4_Missense_Mutation_p.L12M|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	12					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.L12M(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TTTGACAGCCTTGTTTGCATT	0.373																																					p.L12M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T34A	X						.						134.0	116.0	122.0					X																	14548213		2203	4300	6503	14458134	SO:0001583	missense	2742	exon2				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.34T>A	X.37:g.14548213T>A	ENSP00000218075:p.Leu12Met	Somatic		Capture	Illumina HiSeq	Phase_I	14458134	NM_001118885	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059090	0.55325	.	.	ENSG00000101958	ENST00000218075;ENST00000355020	D;D	0.81579	-1.51;-1.51	5.47	5.47	0.80525	.	0.120355	0.37955	N	0.001869	T	0.77246	0.4102	N	0.08118	0	0.80722	D	1	D;P	0.58970	0.984;0.899	P;B	0.59595	0.86;0.299	T	0.82575	-0.0389	10	0.87932	D	0	.	13.8736	0.63638	0.0:0.0:0.0:1.0	.	12;12	P23416;P23416-2	GLRA2_HUMAN;.	M	12	ENSP00000218075:L12M;ENSP00000347123:L12M	ENSP00000218075:L12M	L	+	1	2	GLRA2	14458134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.323000	0.72891	1.941000	0.56285	0.441000	0.28932	TTG		0.373	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		
UBE2NL	389898	broad.mit.edu	37	X	142967451	142967451	+	Silent	SNP	G	G	A	rs142257518		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:142967451G>A	ENST00000370494.1	+	1	279	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	83						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.K83K(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTAGACAAGTTGGAAAGAA	0.413																																					p.K83K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G249A	X						.	G		0,3835		0,0,1632,571	85.0	79.0	81.0		249	0.1	0.9	X	dbSNP_134	81	1,6727		0,1,2427,1872	no	coding-synonymous	UBE2NL	NM_001012989.1		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		83/154	142967451	1,10562	2203	4300	6503	142795117	SO:0001819	synonymous_variant	389898	exon1					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.249G>A	X.37:g.142967451G>A		Somatic		Capture	Illumina HiSeq	Phase_I	142795117	NM_001012989	E9KL27	Silent	SNP	ENST00000370494.1	37	CCDS35420.1																																																																																				0.413	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
FMR1NB	158521	broad.mit.edu	37	X	147084778	147084778	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:147084778A>G	ENST00000370467.3	+	2	409	c.335A>G	c.(334-336)cAt>cGt	p.H112R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	112						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.H112R(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAATGCTCATGGCCAATCT	0.363																																					p.H112R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A335G	X						.						131.0	124.0	126.0					X																	147084778		2203	4300	6503	146892470	SO:0001583	missense	158521	exon2				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.335A>G	X.37:g.147084778A>G	ENSP00000359498:p.His112Arg	Somatic		Capture	Illumina HiSeq	Phase_I	146892470	NM_152578	D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	A	7.355	0.623679	0.14193	.	.	ENSG00000176988	ENST00000370467	T	0.44083	0.93	4.54	-0.431	0.12295	.	1.017170	0.07916	N	0.975082	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24119	-1.0169	10	0.14656	T	0.56	-0.3337	0.4608	0.00516	0.4213:0.182:0.1232:0.2735	.	112	Q8N0W7	FMR1N_HUMAN	R	112	ENSP00000359498:H112R	ENSP00000359498:H112R	H	+	2	0	FMR1NB	146892470	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	-0.031000	0.12287	0.094000	0.17404	0.481000	0.45027	CAT		0.363	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578	
GABRE	2564	broad.mit.edu	37	X	151123280	151123280	+	Missense_Mutation	SNP	G	G	A	rs553890653		TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:151123280G>A	ENST00000370328.3	-	9	1467	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	472					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R359C(1)|p.R472C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGCAGAGGCGGCCCTGCTGC	0.522																																					p.R472C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1414T	X						.						44.0	44.0	44.0					X																	151123280		2203	4300	6503	150873936	SO:0001583	missense	2564	exon9			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1414C>T	X.37:g.151123280G>A	ENSP00000359353:p.Arg472Cys	Somatic		Capture	Illumina HiSeq	Phase_I	150873936	NM_004961	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868922	0.51588	.	.	ENSG00000102287	ENST00000370328	D	0.85773	-2.03	5.68	1.77	0.24775	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.918420	0.09130	N	0.844470	D	0.88459	0.6442	L	0.60904	1.88	0.45515	D	0.998475	D	0.89917	1.0	D	0.69824	0.966	T	0.81678	-0.0824	10	0.87932	D	0	.	3.6043	0.08037	0.287:0.0:0.5389:0.1741	.	472	P78334	GBRE_HUMAN	C	472	ENSP00000359353:R472C	ENSP00000359353:R472C	R	-	1	0	GABRE	150873936	0.972000	0.33761	0.965000	0.40720	0.735000	0.41995	0.579000	0.23788	0.197000	0.20387	-0.208000	0.12717	CGC		0.522	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
ATP2B3	492	broad.mit.edu	37	X	152825309	152825309	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:152825309C>T	ENST00000349466.2	+	17	3074	c.2748C>T	c.(2746-2748)cgC>cgT	p.R916R	ATP2B3_ENST00000263519.4_Silent_p.R916R|ATP2B3_ENST00000370181.2_Silent_p.R902R|ATP2B3_ENST00000393842.1_Silent_p.R902R|ATP2B3_ENST00000359149.3_Silent_p.R916R|ATP2B3_ENST00000370186.1_Silent_p.R902R|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	916					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R916R(3)|p.R902R(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTACGGCCGCGACAAGCCCC	0.597																																					p.R916R												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C2748T	X						.						87.0	70.0	76.0					X																	152825309		2203	4300	6503	152478503	SO:0001819	synonymous_variant	492	exon16			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2748C>T	X.37:g.152825309C>T		Somatic		Capture	Illumina HiSeq	Phase_I	152478503	NM_021949	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	CCDS35440.1																																																																																				0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
DUSP9	1852	broad.mit.edu	37	X	152914854	152914854	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:152914854G>A	ENST00000342782.3	+	3	806	c.541G>A	c.(541-543)Gac>Aac	p.D181N	DUSP9_ENST00000370167.4_Missense_Mutation_p.D181N			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	181					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D181N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGACCGCGACTCCATGAG	0.677																																					p.D181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G541A	X						.						46.0	39.0	41.0					X																	152914854		2203	4299	6502	152568048	SO:0001583	missense	1852	exon3			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.541G>A	X.37:g.152914854G>A	ENSP00000345853:p.Asp181Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152568048	NM_001395	D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.339754	0.81911	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	T;T	0.41758	0.99;0.99	5.13	4.26	0.50523	.	0.195980	0.33834	N	0.004502	T	0.48021	0.1477	L	0.61218	1.895	0.39695	D	0.971093	D	0.65815	0.995	P	0.52710	0.707	T	0.44772	-0.9306	10	0.22109	T	0.4	.	10.3997	0.44222	0.098:0.0:0.902:0.0	.	181	Q99956	DUS9_HUMAN	N	181	ENSP00000359186:D181N;ENSP00000345853:D181N	ENSP00000345853:D181N	D	+	1	0	DUSP9	152568048	1.000000	0.71417	0.015000	0.15790	0.957000	0.61999	6.415000	0.73328	0.952000	0.37798	0.529000	0.55759	GAC		0.677	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395	
KAL1	3730	broad.mit.edu	37	X	8555880	8555880	+	Silent	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:8555880G>T	ENST00000262648.3	-	5	830	c.681C>A	c.(679-681)atC>atA	p.I227I		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	227	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I227I(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CGCTAGGATGGATTCCATAAT	0.443																																					p.I227I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681A	X						.						92.0	71.0	78.0					X																	8555880		2203	4300	6503	8515880	SO:0001819	synonymous_variant	3730	exon5				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.681C>A	X.37:g.8555880G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8515880	NM_000216	B2RPF8	Silent	SNP	ENST00000262648.3	37	CCDS14130.1																																																																																				0.443	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216	
NHS	4810	broad.mit.edu	37	X	17710528	17710528	+	Silent	SNP	A	A	G			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:17710528A>G	ENST00000380060.3	+	3	1130	c.792A>G	c.(790-792)ccA>ccG	p.P264P	NHS_ENST00000398097.3_Silent_p.P87P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	264					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P264P(1)|p.P87P(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTCCACTGCCAGCCTACCCTC	0.562																																					p.P87P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A261G	X	GRCh37	CD084891	NHS	D		.						94.0	79.0	84.0					X																	17710528		2203	4300	6503	17620449	SO:0001819	synonymous_variant	4810	exon3				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.792A>G	X.37:g.17710528A>G		Somatic		Capture	Illumina HiSeq	Phase_I	17620449	NM_001136024	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	CCDS14181.1																																																																																				0.562	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
ACOT9	23597	broad.mit.edu	37	X	23724822	23724822	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:23724822C>T	ENST00000336430.7	-	10	869	c.738G>A	c.(736-738)acG>acA	p.T246T	ACOT9_ENST00000379295.1_Silent_p.T186T|ACOT9_ENST00000379303.5_Silent_p.T255T	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	246					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)	p.T246T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TCAGTAACGACGTGGAGCTGA	0.507																																					p.T255T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G765A	X						.						134.0	99.0	111.0					X																	23724822		2203	4300	6503	23634743	SO:0001819	synonymous_variant	23597	exon11			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.738G>A	X.37:g.23724822C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23634743	NM_001037171	B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	CCDS35216.1																																																																																				0.507	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332	
JADE3	9767	broad.mit.edu	37	X	46918113	46918113	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:46918113C>A	ENST00000218343.4	+	11	2404	c.2106C>A	c.(2104-2106)ggC>ggA	p.G702G	PHF16_ENST00000397189.1_Silent_p.G702G	NM_014735.3	NP_055550.1												p.G702G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TCAGTCAGGGCAGCTTTAGAA	0.507																																					p.G702G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2106A	X						.						47.0	42.0	44.0					X																	46918113		2203	4300	6503	46803057	SO:0001819	synonymous_variant	9767	exon11																														ENST00000218343.4:c.2106C>A	X.37:g.46918113C>A		Somatic		Capture	Illumina HiSeq	Phase_I	46803057	NM_014735		Silent	SNP	ENST00000218343.4	37	CCDS14271.1																																																																																				0.507	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1		
UBA1	7317	broad.mit.edu	37	X	47065702	47065702	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:47065702C>T	ENST00000335972.6	+	16	1980	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G	UBA1_ENST00000490869.1_3'UTR|UBA1_ENST00000377269.3_5'Flank|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Silent_p.G599G	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	599	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.G599G(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGAGTCAGGCACACTGGGCA	0.562																																					p.G599G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1797T	X						.						80.0	49.0	60.0					X																	47065702		2203	4300	6503	46950646	SO:0001819	synonymous_variant	7317	exon16			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1797C>T	X.37:g.47065702C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46950646	NM_153280	Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	CCDS14275.1																																																																																				0.562	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
USP11	8237	broad.mit.edu	37	X	47100031	47100031	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:47100031G>A	ENST00000218348.3	+	6	856	c.856G>A	c.(856-858)Gca>Aca	p.A286T	USP11_ENST00000377107.2_Missense_Mutation_p.A243T	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	286					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.A286T(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TTGGCCCAGCGCACAGCTGCA	0.522																																					p.A286T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G856A	X						.						68.0	62.0	64.0					X																	47100031		2203	4300	6503	46984975	SO:0001583	missense	8237	exon6			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.856G>A	X.37:g.47100031G>A	ENSP00000218348:p.Ala286Thr	Somatic		Capture	Illumina HiSeq	Phase_I	46984975	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380766	0.61845	.	.	ENSG00000102226	ENST00000377107;ENST00000218348;ENST00000377078	T;T;T	0.42900	2.02;2.01;0.96	5.6	0.0622	0.14344	.	0.846335	0.10226	N	0.700276	T	0.25568	0.0622	L	0.44542	1.39	0.31428	N	0.673526	B;B	0.13594	0.002;0.008	B;B	0.09377	0.004;0.003	T	0.34054	-0.9844	10	0.13470	T	0.59	-0.8477	0.4929	0.00567	0.3011:0.1243:0.3221:0.2525	.	13;286	B3KP28;P51784	.;UBP11_HUMAN	T	243;286;13	ENSP00000366311:A243T;ENSP00000218348:A286T;ENSP00000366279:A13T	ENSP00000218348:A286T	A	+	1	0	USP11	46984975	0.521000	0.26258	0.001000	0.08648	0.762000	0.43233	1.189000	0.32114	-0.058000	0.13177	0.513000	0.50165	GCA		0.522	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
TBC1D25	4943	broad.mit.edu	37	X	48419280	48419280	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:48419280C>T	ENST00000376771.4	+	6	2325	c.1984C>T	c.(1984-1986)Cgg>Tgg	p.R662W	TBC1D25_ENST00000537536.1_Missense_Mutation_p.R408W|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	662					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.R662W(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CGTCCTGCGCCGGGCTAGGGC	0.597																																					p.R662W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1984T	X						.						36.0	35.0	35.0					X																	48419280		2202	4299	6501	48304224	SO:0001583	missense	4943	exon6			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1984C>T	X.37:g.48419280C>T	ENSP00000365962:p.Arg662Trp	Somatic		Capture	Illumina HiSeq	Phase_I	48304224	NM_002536	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507277	0.44558	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.23754	1.89;1.89	5.33	1.14	0.20703	Rab-GAP/TBC domain (1);	0.206543	0.40640	N	0.001043	T	0.42607	0.1210	L	0.51422	1.61	0.38599	D	0.950626	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.33059	-0.9883	10	0.87932	D	0	-19.1913	13.3205	0.60430	0.513:0.487:0.0:0.0	.	666;604;662	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	W	662;408	ENSP00000365962:R662W;ENSP00000444091:R408W	ENSP00000365962:R662W	R	+	1	2	TBC1D25	48304224	1.000000	0.71417	0.956000	0.39512	0.064000	0.16182	1.690000	0.37711	-0.209000	0.10156	-0.351000	0.07748	CGG		0.597	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536	
PRAF2	11230	broad.mit.edu	37	X	48929657	48929657	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:48929657C>T	ENST00000376390.4	-	3	491	c.408G>A	c.(406-408)gtG>gtA	p.V136V	PRAF2_ENST00000491199.1_5'UTR|AF196779.12_ENST00000376358.3_Silent_p.V250V|WDR45_ENST00000553851.1_Silent_p.V250V	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	136					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.V136V(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						ACGAGGCGTGCACCAGGATCA	0.607																																					p.V136V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G408A	X						.						80.0	59.0	66.0					X																	48929657		2203	4300	6503	48816601	SO:0001819	synonymous_variant	11230	exon3			BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.408G>A	X.37:g.48929657C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48816601	NM_007213	B2RD20	Silent	SNP	ENST00000376390.4	37	CCDS14317.1																																																																																				0.607	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213	
IQSEC2	23096	broad.mit.edu	37	X	53263829	53263829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:53263829delC	ENST00000375368.5	-	14	4209	c.4009delG	c.(4009-4011)gctfs	p.A1337fs	IQSEC2_ENST00000396435.3_Frame_Shift_Del_p.A1347fs|IQSEC2_ENST00000375365.2_3'UTR			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1337	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A1347fs*50(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGTCCTCCAGCCCCCCGTCTG	0.697																																					p.A1347fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4039delG	X						.						12.0	13.0	13.0					X																	53263829		692	1588	2280	53280554	SO:0001589	frameshift_variant	23096	exon15			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.4009delG	X.37:g.53263829delC	ENSP00000364517:p.Ala1337fs	Somatic		Capture	Illumina HiSeq	Phase_I	53280554	NM_001111125	B3KT97|C7SDG1|O60275|Q5JUX1	Frame_Shift_Del	DEL	ENST00000375368.5	37																																																																																					0.697	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345	
PHF8	23133	broad.mit.edu	37	X	54028603	54028603	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:54028603G>T	ENST00000357988.5	-	10	1592	c.1234C>A	c.(1234-1236)Ctg>Atg	p.L412M	PHF8_ENST00000338946.6_Missense_Mutation_p.L376M|PHF8_ENST00000338154.6_Missense_Mutation_p.L376M|PHF8_ENST00000322659.8_Missense_Mutation_p.L376M	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	412					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)	p.L376M(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AAGATGTCCAGGATGTGCTTT	0.493																																					p.L376M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1126A	X						.						149.0	120.0	130.0					X																	54028603		2203	4300	6503	54045328	SO:0001583	missense	23133	exon10			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1234C>A	X.37:g.54028603G>T	ENSP00000350676:p.Leu412Met	Somatic		Capture	Illumina HiSeq	Phase_I	54045328	NM_001184898	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.451067|4.451067	0.84209|0.84209	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302	T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71626|0.71626	0.3362|0.3362	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.89917|.	1.0;0.997;0.998;0.941|.	D;D;D;P|.	0.97110|.	1.0;0.998;0.999;0.771|.	T|T	0.69431|0.69431	-0.5147|-0.5147	10|5	0.62326|.	D|.	0.03|.	-7.1672|-7.1672	17.3226|17.3226	0.87240|0.87240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	376;376;412;412|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	M|H	412;376;376;406;376|139	ENSP00000350676:L412M;ENSP00000338868:L376M;ENSP00000340051:L376M;ENSP00000319473:L376M|.	ENSP00000319473:L376M|.	L|P	-|-	1|2	2|0	PHF8|PHF8	54045328|54045328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.249000|5.249000	0.65427|0.65427	2.358000|2.358000	0.79984|0.79984	0.513000|0.513000	0.50165|0.50165	CTG|CCT		0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	
PHF8	23133	broad.mit.edu	37	X	54040973	54040973	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:54040973G>A	ENST00000357988.5	-	7	1086	c.728C>T	c.(727-729)cCg>cTg	p.P243L	PHF8_ENST00000338946.6_Missense_Mutation_p.P207L|PHF8_ENST00000338154.6_Missense_Mutation_p.P207L|PHF8_ENST00000322659.8_Missense_Mutation_p.P207L	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	243	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)	p.P207L(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AACAATCTTCGGTGTCTCCAC	0.473																																					p.P207L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	X						.						91.0	61.0	71.0					X																	54040973		2203	4300	6503	54057698	SO:0001583	missense	23133	exon7			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.728C>T	X.37:g.54040973G>A	ENSP00000350676:p.Pro243Leu	Somatic		Capture	Illumina HiSeq	Phase_I	54057698	NM_001184898	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.878680|4.878680	0.91740|0.91740	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000396282	T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.051460|.	0.85682|.	D|.	0.000000|.	D|.	0.87759|.	0.6258|.	H|H	0.96208|0.96208	3.785|3.785	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.968;0.99;0.998|.	D|.	0.91792|.	0.5444|.	10|.	0.87932|.	D|.	0|.	-12.1705|-12.1705	16.8548|16.8548	0.86003|0.86003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	207;243;243|.	B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;PHF8_HUMAN|.	L|X	243;207;207;237;207|111	ENSP00000350676:P243L;ENSP00000338868:P207L;ENSP00000340051:P207L;ENSP00000319473:P207L|.	ENSP00000319473:P207L|.	P|R	-|-	2|1	0|2	PHF8|PHF8	54057698|54057698	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.906000|0.906000	0.53458|0.53458	9.833000|9.833000	0.99426|0.99426	2.241000|2.241000	0.73720|0.73720	0.494000|0.494000	0.49563|0.49563	CCG|CGA		0.473	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	
AR	367	broad.mit.edu	37	X	66931276	66931276	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:66931276C>T	ENST00000374690.3	+	4	2442	c.1918C>T	c.(1918-1920)Cta>Tta	p.L640L	AR_ENST00000396043.2_Silent_p.L108L|AR_ENST00000396044.3_Silent_p.L640L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	639	Interaction with HIPK3. {ECO:0000250}.|Interaction with KAT7.|Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L640L(1)|p.L450L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TAATCTGAAACTACAGGAGGA	0.468									Androgen Insensitivity Syndrome																												p.L108L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C322T	X						.						51.0	37.0	42.0					X																	66931276		2203	4299	6502	66848001	SO:0001819	synonymous_variant	367	exon4	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1918C>T	X.37:g.66931276C>T		Somatic		Capture	Illumina HiSeq	Phase_I	66848001	NM_001011645	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	CCDS14387.1																																																																																				0.468	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
AR	367	broad.mit.edu	37	X	66942787	66942787	+	Silent	SNP	C	C	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:66942787C>A	ENST00000374690.3	+	7	3092	c.2568C>A	c.(2566-2568)cgC>cgA	p.R856R	AR_ENST00000396043.2_Silent_p.R324R|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	855	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		F -> L (in AIS).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R674R(1)|p.R856R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GCTCAAGACGCTTCTACCAGC	0.433									Androgen Insensitivity Syndrome																												p.R324R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C972A	X						.						108.0	99.0	102.0					X																	66942787		2203	4300	6503	66859512	SO:0001819	synonymous_variant	367	exon7	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2568C>A	X.37:g.66942787C>A		Somatic		Capture	Illumina HiSeq	Phase_I	66859512	NM_001011645	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	CCDS14387.1																																																																																				0.433	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
KIF4A	24137	broad.mit.edu	37	X	69594039	69594039	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:69594039G>A	ENST00000374403.3	+	16	1795	c.1713G>A	c.(1711-1713)ctG>ctA	p.L571L	KIF4A_ENST00000374388.3_Silent_p.L571L	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	571					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.L571L(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCATCAATCTGCAAAAGGAAA	0.338																																					p.L571L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1713A	X						.						70.0	62.0	65.0					X																	69594039		2203	4300	6503	69510764	SO:0001819	synonymous_variant	24137	exon16			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1713G>A	X.37:g.69594039G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69510764	NM_012310	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	CCDS14401.1																																																																																				0.338	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
ZMYM3	9203	broad.mit.edu	37	X	70464683	70464683	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:70464683T>C	ENST00000353904.2	-	19	3255	c.3068A>G	c.(3067-3069)gAg>gGg	p.E1023G	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.E1011G|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E1023G|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E1025G|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E1025G	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1023					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1023G(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGACACATCCTCAGGCCCTAC	0.453																																					p.E1011G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3032G	X						.						74.0	54.0	61.0					X																	70464683		2203	4300	6503	70381408	SO:0001583	missense	9203	exon19			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3068A>G	X.37:g.70464683T>C	ENSP00000343909:p.Glu1023Gly	Somatic		Capture	Illumina HiSeq	Phase_I	70381408	NM_001171162	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	16.06	3.016373	0.54468	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.48836	1.4;0.8;1.4;1.39;1.4	5.18	5.18	0.71444	.	0.153286	0.45126	D	0.000396	T	0.35856	0.0946	L	0.32530	0.975	0.42650	D	0.993443	B;B	0.34290	0.447;0.319	B;B	0.26969	0.075;0.034	T	0.31752	-0.9932	10	0.54805	T	0.06	-20.3277	14.128	0.65235	0.0:0.0:0.0:1.0	.	1011;1023	Q14202-2;Q14202	.;ZMYM3_HUMAN	G	1023;1011;1023;1025;1025	ENSP00000322845:E1023G;ENSP00000363110:E1011G;ENSP00000343909:E1023G;ENSP00000363096:E1025G;ENSP00000363100:E1025G	ENSP00000322845:E1023G	E	-	2	0	ZMYM3	70381408	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.609000	0.67661	1.911000	0.55334	0.412000	0.27726	GAG		0.453	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
KIAA2022	340533	broad.mit.edu	37	X	73964131	73964131	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:73964131G>A	ENST00000055682.6	-	3	872	c.261C>T	c.(259-261)ccC>ccT	p.P87P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	87					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)	p.P87P(1)		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						CAGCATGTTCGGGTGCTTCAA	0.507																																					p.P87P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C261T	X						.						86.0	77.0	80.0					X																	73964131		2203	4300	6503	73880856	SO:0001819	synonymous_variant	340533	exon3				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.261C>T	X.37:g.73964131G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73880856	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																				0.507	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
MAGEE2	139599	broad.mit.edu	37	X	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-	rs61732441	byFrequency	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:75004754delG	ENST00000373359.2	-	1	325	c.133delC	c.(133-135)cagfs	p.Q45fs		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	45								p.Q45fs*27(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGGGCACTGGGGGGCATCA	0.587																																					p.Q45fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.133delC	X						.						38.0	35.0	36.0					X																	75004754		2203	4300	6503	74921479	SO:0001589	frameshift_variant	139599	exon1			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.133delC	X.37:g.75004754delG	ENSP00000362457:p.Gln45fs	Somatic		Capture	Illumina HiSeq	Phase_I	74921479	NM_138703	Q5JSI5	Frame_Shift_Del	DEL	ENST00000373359.2	37	CCDS14431.1																																																																																				0.587	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703	
MAGEE1	57692	broad.mit.edu	37	X	75649844	75649844	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:75649844G>T	ENST00000361470.2	+	1	1799	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	507	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.Q507H(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGAAGGATCAGAGCAAGTACC	0.512																																					p.Q507H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1521T	X						.						65.0	63.0	64.0					X																	75649844		2203	4300	6503	75566248	SO:0001583	missense	57692	exon1			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1521G>T	X.37:g.75649844G>T	ENSP00000354912:p.Gln507His	Somatic		Capture	Illumina HiSeq	Phase_I	75566248	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	7.225	0.598222	0.13939	.	.	ENSG00000198934	ENST00000361470	T	0.05139	3.49	2.13	1.24	0.21308	.	.	.	.	.	T	0.10465	0.0256	M	0.69248	2.105	0.32031	N	0.599487	P	0.35527	0.507	B	0.43478	0.421	T	0.12192	-1.0557	9	0.66056	D	0.02	.	4.2951	0.10897	0.2126:0.0:0.7874:0.0	.	507	Q9HCI5	MAGE1_HUMAN	H	507	ENSP00000354912:Q507H	ENSP00000354912:Q507H	Q	+	3	2	MAGEE1	75566248	0.999000	0.42202	0.788000	0.31933	0.009000	0.06853	1.153000	0.31676	0.320000	0.23234	-0.215000	0.12644	CAG		0.512	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
POF1B	79983	broad.mit.edu	37	X	84561310	84561310	+	Silent	SNP	G	G	A			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:84561310G>A	ENST00000262753.4	-	12	1339	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	POF1B_ENST00000373145.3_Silent_p.C398C	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	398						tight junction (GO:0005923)		p.C398C(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CCAATGCCTGGCATTTTGAAC	0.353																																					p.C398C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1194T	X						.						169.0	132.0	145.0					X																	84561310		2203	4300	6503	84447966	SO:0001819	synonymous_variant	79983	exon12			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1194C>T	X.37:g.84561310G>A		Somatic		Capture	Illumina HiSeq	Phase_I	84447966	NM_024921	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	CCDS14452.1																																																																																				0.353	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921	
STAG2	10735	broad.mit.edu	37	X	123171446	123171446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:123171446delT	ENST00000371160.1	+	6	648	c.358delT	c.(358-360)tttfs	p.F121fs	STAG2_ENST00000354548.5_Frame_Shift_Del_p.F52fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.F121fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.F121fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.F121fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.F121fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	121					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.F121fs*24(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTATCAACTTTTTTATTCA	0.348																																					p.F120fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.358delT	X						.						161.0	136.0	144.0					X																	123171446		2203	4300	6503	122999127	SO:0001589	frameshift_variant	10735	exon6			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.358delT	X.37:g.123171446delT	ENSP00000360202:p.Phe121fs	Somatic		Capture	Illumina HiSeq	Phase_I	122999127	NM_001042750	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	CCDS14607.1																																																																																				0.348	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
SLC25A14	9016	broad.mit.edu	37	X	129506883	129506883	+	Splice_Site	DEL	T	T	-			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:129506883delT	ENST00000218197.5	+	10	1164	c.937delT	c.(937-939)ttt>tt	p.F314fs	SLC25A14_ENST00000339231.3_Splice_Site_p.F342fs|SLC25A14_ENST00000361980.5_Splice_Site_p.F311fs	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	314					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.F314fs*7(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TACTCCTCAGTTTTTTATTAC	0.403																																					p.F313fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.937delT	X						.						243.0	238.0	239.0					X																	129506883		2203	4300	6503	129334564	SO:0001630	splice_region_variant	9016	exon10			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.937-1T>-	X.37:g.129506883delT		Somatic		Capture	Illumina HiSeq	Phase_I	129334564	NM_003951	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Frame_Shift_Del	DEL	ENST00000218197.5	37	CCDS14623.1																																																																																				0.403	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951	Frame_Shift_Del
HCFC1	3054	broad.mit.edu	37	X	153220616	153220616	+	Silent	SNP	C	C	T			TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3821-01A-01W-0995-10	TCGA-AA-3821-10A-01W-0995-10	g.chrX:153220616C>T	ENST00000310441.7	-	17	4200	c.3234G>A	c.(3232-3234)ccG>ccA	p.P1078P	HCFC1_ENST00000354233.3_Silent_p.P1009P|HCFC1_ENST00000369984.4_Silent_p.P1078P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1078					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P1078P(1)|p.P981P(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGCAGGGCGGGTTCGAAC	0.632																																					p.P1078P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3234A	X						.						46.0	52.0	50.0					X																	153220616		2178	4249	6427	152873810	SO:0001819	synonymous_variant	3054	exon17				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3234G>A	X.37:g.153220616C>T		Somatic		Capture	Illumina HiSeq	Phase_I	152873810	NM_005334	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1																																																																																				0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
