#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACSM2A	123876	hgsc.bcm.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																																	0																																										SO:0001589	frameshift_variant	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1		NM_001010845	
ADIG	149685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37214721	37214721	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr20:37214721C>A	ENST00000537425.1	+	2	230	c.159C>A	c.(157-159)agC>agA	p.S53R		NM_001018082.1	NP_001018092.1			adipogenin									p.S53R(2)		endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				AGCCCTGGAGCAAAGGCCCAG	0.582																																																	2	Substitution - Missense(2)	kidney(2)											38.0	42.0	41.0					20																	37214721		1984	4163	6147	SO:0001583	missense	149685			BC029594	CCDS54461.1	20q11.23	2014-02-12	2007-03-29		ENSG00000182035	ENSG00000182035			28606	protein-coding gene	gene with protein product	"""small adipocyte factor 1"""	611396	"""adipogenesis associated"""			15567149, 16132694	Standard	NM_001018082		Approved	MGC39724, SMAF1, RP5-1100H13.2	uc002xjb.1	Q0VDE8	OTTHUMG00000032451	ENST00000537425.1:c.159C>A	20.37:g.37214721C>A	ENSP00000440331:p.Ser53Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000537425.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.05|19.05	3.751067|3.751067	0.69533|0.69533	.|.	.|.	ENSG00000182035|ENSG00000182035	ENST00000416116|ENST00000537425	.|.	.|.	.|.	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	.|0.000000	.|0.39475	.|U	.|0.001350	T|T	0.57725|0.57725	0.2073|0.2073	.|.	.|.	.|.	0.29943|0.29943	N|N	0.820889|0.820889	.|D	.|0.57257	.|0.979	.|P	.|0.56563	.|0.801	T|T	0.60551|0.60551	-0.7241|-0.7241	4|8	.|0.87932	.|D	.|0	-1.9079|-1.9079	11.7364|11.7364	0.51767|0.51767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58	.|Q0VDE8	.|ADIG_HUMAN	E|R	40|53	.|.	.|ENSP00000434385:S58R	A|S	+|+	2|3	0|2	ADIG|ADIG	36648135|36648135	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.836000|0.836000	0.47400|0.47400	2.941000|2.941000	0.49011|0.49011	2.218000|2.218000	0.71995|0.71995	0.462000|0.462000	0.41574|0.41574	GCA|AGC		0.582	ADIG-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_001018082	
AKR1B15	441282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134261744	134261744	+	Missense_Mutation	SNP	T	T	G	rs375543873		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:134261744T>G	ENST00000457545.2	+	10	1115	c.855T>G	c.(853-855)aaT>aaG	p.N285K	AKR1B15_ENST00000423958.1_Missense_Mutation_p.N257K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	285							oxidoreductase activity (GO:0016491)	p.N303K(1)|p.N257K(1)|p.N285K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TCCAGAGGAATGTGACAGTGA	0.488																																																	3	Substitution - Missense(3)	kidney(3)											192.0	187.0	189.0					7																	134261744		2203	4300	6503	SO:0001583	missense	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.855T>G	7.37:g.134261744T>G	ENSP00000389289:p.Asn285Lys	Somatic		WXS	Illumina HiSeq	Phase_I	C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	T	9.214	1.031567	0.19590	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.16897	2.31;2.31	3.51	-5.4	0.02656	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.11153	0.0272	L	0.38953	1.18	0.41436	D	0.987891	B;P	0.42941	0.055;0.794	B;B	0.41374	0.126;0.355	T	0.33343	-0.9872	9	0.46703	T	0.11	.	6.719	0.23321	0.2231:0.5377:0.0:0.2391	.	257;285	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	K	285;257	ENSP00000389289:N285K;ENSP00000397009:N257K	ENSP00000397009:N257K	N	+	3	2	AKR1B15	133912284	0.790000	0.28787	0.656000	0.29637	0.177000	0.22998	-0.157000	0.10085	-0.702000	0.05056	0.333000	0.21579	AAT		0.488	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			
ASPN	54829	hgsc.bcm.edu	37	9	95237024	95237024	+	Missense_Mutation	SNP	C	C	A	rs113747060|rs71362392|rs111419727|rs3078372|rs397838876|rs376433743|rs557103556	byFrequency	TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr9:95237024C>A	ENST00000375544.3	-	2	399	c.156G>T	c.(154-156)gaG>gaT	p.E52D	ASPN_ENST00000395538.3_Missense_Mutation_p.E52D|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.E52D|ASPN_ENST00000450139.2_Missense_Mutation_p.E24D	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	52	Poly-Asp.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GAGAGTTGTCCtcatcatcat	0.398																																																	0													114.0	105.0	108.0					9																	95237024		2203	4300	6503	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.156G>T	9.37:g.95237024C>A	ENSP00000364694:p.Glu52Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37		.	.	.	.	.	.	.	.	.	.	C	4.117	0.019984	0.08006	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	T;T;T	0.54279	0.58;1.1;1.1	5.02	-4.61	0.03380	.	1.173110	0.06296	N	0.700091	T	0.14270	0.0345	N	0.00268	-1.735	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25467	-1.0131	10	0.12766	T	0.61	.	7.4765	0.27378	0.3957:0.2175:0.3868:0.0	.	52;52	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	D	52;52;52;24	ENSP00000364694:E52D;ENSP00000364693:E52D;ENSP00000378909:E52D	ENSP00000364693:E52D	E	-	3	2	ASPN	94276845	0.675000	0.27558	0.000000	0.03702	0.005000	0.04900	-0.788000	0.04614	-1.088000	0.03077	-0.867000	0.03001	GAG		0.398	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1		NM_017680	
KIAA1549L	25758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33566837	33566837	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr11:33566837C>T	ENST00000321505.4	+	2	2587	c.2407C>T	c.(2407-2409)Cct>Tct	p.P803S	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P809S|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P809S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	803						integral component of membrane (GO:0016021)		p.P809S(1)|p.P803S(1)									TGCTGTCCTTCCTGCTGCATC	0.562																																																	2	Substitution - Missense(2)	kidney(2)											47.0	56.0	53.0					11																	33566837		2170	4270	6440	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2407C>T	11.37:g.33566837C>T	ENSP00000315295:p.Pro803Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	4.807	0.150067	0.09185	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.69	2.58	0.30949	.	0.783527	0.12130	N	0.496856	T	0.29882	0.0747	L	0.54323	1.7	0.09310	N	1	P;P	0.42296	0.483;0.775	B;B	0.39660	0.122;0.306	T	0.19516	-1.0303	9	0.45353	T	0.12	-1.7004	3.5515	0.07848	0.2349:0.4031:0.2815:0.0804	.	809;809	E9PAT2;Q6ZVL6-2	.;.	S	803;809;809;642	.	ENSP00000265654:P809S	P	+	1	0	C11orf41	33523413	0.003000	0.15002	0.008000	0.14137	0.011000	0.07611	1.085000	0.30840	0.721000	0.32231	0.549000	0.68633	CCT		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1		NM_012194	
FAM210B	116151	hgsc.bcm.edu;ucsc.edu	37	20	54941313	54941314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr20:54941313_54941314insT	ENST00000371384.3	+	3	640_641	c.549_550insT	c.(550-552)tttfs	p.F184fs		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	184	DUF1279.					integral component of membrane (GO:0016021)											GAAAAGTGGGATTTTTTAAACC	0.406																																																	0																																										SO:0001589	frameshift_variant	0			AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.555dupT	20.37:g.54941319_54941319dupT	ENSP00000360437:p.Phe184fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Frame_Shift_Ins	INS	ENST00000371384.3	37	CCDS13450.1																																																																																				0.406	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2		NM_080821	
STPG2	285555	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	98902354	98902354	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr4:98902354C>T	ENST00000295268.3	-	6	817	c.728G>A	c.(727-729)aGt>aAt	p.S243N		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	243								p.S243N(1)									TCGAACAGCACTTTGACCAAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											192.0	190.0	191.0					4																	98902354		2203	4300	6503	SO:0001583	missense	0			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.728G>A	4.37:g.98902354C>T	ENSP00000295268:p.Ser243Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696334	0.30052	.	.	ENSG00000163116	ENST00000295268	T	0.12361	2.69	5.58	-0.988	0.10245	.	0.722269	0.13259	N	0.401429	T	0.12902	0.0313	L	0.51422	1.61	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.27606	-1.0069	10	0.56958	D	0.05	-33.5351	10.3051	0.43676	0.0:0.3062:0.5456:0.1482	.	243	Q8N412	CD037_HUMAN	N	243	ENSP00000295268:S243N	ENSP00000295268:S243N	S	-	2	0	C4orf37	99121377	0.169000	0.23002	0.264000	0.24511	0.723000	0.41478	0.188000	0.17018	0.039000	0.15632	-0.217000	0.12591	AGT		0.383	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1		NM_174952	
DHX36	170506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154022915	154022915	+	Silent	SNP	T	T	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:154022915T>A	ENST00000496811.1	-	7	1016	c.936A>T	c.(934-936)acA>acT	p.T312T	DHX36_ENST00000329463.5_Silent_p.T312T|DHX36_ENST00000308361.6_Silent_p.T312T|DHX36_ENST00000544526.1_Silent_p.T312T	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	312	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.T312T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGATGATTCCTGTTGTACAGT	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	73.0	75.0					3																	154022915		2203	4300	6503	SO:0001819	synonymous_variant	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.936A>T	3.37:g.154022915T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	CCDS3171.1																																																																																				0.338	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1		NM_020865	
DISC1	27185	broad.mit.edu;hgsc.bcm.edu	37	1	231829671	231829671	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:231829671T>A	ENST00000602281.1	+	2	220	c.167T>A	c.(166-168)tTc>tAc	p.F56Y	DISC1_ENST00000535983.1_Missense_Mutation_p.F56Y|DISC1_ENST00000439617.2_Missense_Mutation_p.F56Y|DISC1_ENST00000366633.3_Missense_Mutation_p.F56Y|DISC1_ENST00000366636.4_Missense_Mutation_p.F56Y|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.F56Y|DISC1_ENST00000317586.4_Missense_Mutation_p.F56Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.F56Y	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	56	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.F56Y(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGATCGGGTTCCTTTCCCCA	0.662																																																	4	Substitution - Missense(4)	kidney(4)											44.0	41.0	42.0					1																	231829671		2203	4300	6503	SO:0001583	missense	27185			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.167T>A	1.37:g.231829671T>A	ENSP00000473425:p.Phe56Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357397	0.41801	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.88	2.52	0.30459	.	0.505078	0.19298	N	0.117706	T	0.39279	0.1072	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.998;0.998;0.999;0.998;0.999;0.999;0.999;0.999;0.997;0.998;0.998;0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81914	0.918;0.96;0.937;0.995;0.96;0.937;0.96;0.96;0.96;0.96;0.918;0.995;0.995;0.96;0.96;0.96;0.995;0.96;0.96;0.96;0.918	T	0.06716	-1.0811	10	0.87932	D	0	-10.2503	6.208	0.20613	0.0:0.0937:0.1738:0.7325	.	56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	Y	56	ENSP00000403888:F56Y;ENSP00000320784:F56Y;ENSP00000355596:F56Y;ENSP00000443996:F56Y;ENSP00000440909:F56Y;ENSP00000355593:F56Y;ENSP00000440953:F56Y;ENSP00000295051:F56Y;ENSP00000441193:F56Y	ENSP00000295051:F56Y	F	+	2	0	DISC1	229896294	0.943000	0.32029	0.113000	0.21522	0.229000	0.25112	1.681000	0.37618	0.901000	0.36495	0.533000	0.62120	TTC		0.662	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1		NM_018662	
DNAJC10	54431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	183601013	183601013	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr2:183601013C>T	ENST00000264065.7	+	11	1302	c.887C>T	c.(886-888)aCc>aTc	p.T296I	DNAJC10_ENST00000537515.1_Missense_Mutation_p.T296I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	296	Trxb 1.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.T296I(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GACTGTGCCACCCAGGATAAC	0.358																																					Pancreas(56;860 1183 25669 35822 48585)												1	Substitution - Missense(1)	kidney(1)											122.0	118.0	120.0					2																	183601013		2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.887C>T	2.37:g.183601013C>T	ENSP00000264065:p.Thr296Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409103	0.25378	.	.	ENSG00000077232	ENST00000264065;ENST00000537515	T;T	0.39406	1.08;1.08	5.44	0.532	0.17114	Thioredoxin-like fold (1);	0.747715	0.13487	N	0.384247	T	0.27933	0.0688	L	0.33485	1.01	0.19775	N	0.999952	B	0.06786	0.001	B	0.06405	0.002	T	0.18085	-1.0348	10	0.48119	T	0.1	.	5.8991	0.18955	0.0:0.5925:0.1263:0.2813	.	296	Q8IXB1	DJC10_HUMAN	I	296	ENSP00000264065:T296I;ENSP00000441560:T296I	ENSP00000264065:T296I	T	+	2	0	DNAJC10	183309258	0.098000	0.21812	0.302000	0.25058	0.670000	0.39368	0.589000	0.23939	-0.110000	0.12022	-0.834000	0.03071	ACC		0.358	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2		NM_018981	
DPYS	1807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	105456595	105456595	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr8:105456595A>G	ENST00000351513.2	-	4	806	c.674T>C	c.(673-675)gTg>gCg	p.V225A		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	225					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.V225A(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)			CTCTGCCTCCACTGCCTCTGG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											76.0	69.0	71.0					8																	105456595		2203	4300	6503	SO:0001583	missense	1807			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.674T>C	8.37:g.105456595A>G	ENSP00000276651:p.Val225Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	A	32	5.169308	0.94768	.	.	ENSG00000147647	ENST00000351513	D	0.88975	-2.45	5.89	5.89	0.94794	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	N	0.20766	0.605	0.80722	D	1	P	0.37731	0.607	P	0.61800	0.894	D	0.91689	0.5364	10	0.66056	D	0.02	-27.2405	16.3127	0.82898	1.0:0.0:0.0:0.0	.	225	Q14117	DPYS_HUMAN	A	225	ENSP00000276651:V225A	ENSP00000276651:V225A	V	-	2	0	DPYS	105525771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.991000	0.76232	2.246000	0.74042	0.533000	0.62120	GTG		0.542	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1		NM_001385	
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	41385099	41385099	+	Silent	SNP	G	G	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr21:41385099G>A	ENST00000400454.1	-	33	6378	c.5901C>T	c.(5899-5901)gcC>gcT	p.A1967A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1967				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	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.A1967A(3)		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)				ATGTGGCCACGGCCCCCGGCT	0.652																																					Melanoma(134;970 1778 1785 21664 32388)												3	Substitution - coding silent(3)	lung(1)|kidney(1)|endometrium(1)											27.0	29.0	28.0					21																	41385099		1931	4140	6071	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5901C>T	21.37:g.41385099G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389	
ELK3	2004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96640767	96640767	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr12:96640767C>A	ENST00000228741.3	+	3	583	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	86					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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)|transcription corepressor activity (GO:0003714)	p.S86Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					AAGTTTGTCTCTTTCCCGGAG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											82.0	86.0	85.0					12																	96640767		2203	4300	6503	SO:0001583	missense	2004			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.257C>A	12.37:g.96640767C>A	ENSP00000228741:p.Ser86Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255550	0.80135	.	.	ENSG00000111145	ENST00000228741;ENST00000547860	T;T	0.56275	0.47;0.47	5.74	5.74	0.90152	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (2);	0.098116	0.64402	D	0.000001	T	0.72906	0.3519	M	0.76002	2.32	0.80722	D	1	D	0.59767	0.986	D	0.64321	0.924	T	0.74962	-0.3485	10	0.87932	D	0	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	86	P41970	ELK3_HUMAN	Y	86	ENSP00000228741:S86Y;ENSP00000447857:S86Y	ENSP00000228741:S86Y	S	+	2	0	ELK3	95164898	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.686000	0.68211	2.716000	0.92895	0.561000	0.74099	TCT		0.527	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1		NM_005230	
FAM188A	80013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	15879243	15879243	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr10:15879243A>G	ENST00000277632.3	-	6	756	c.536T>C	c.(535-537)tTt>tCt	p.F179S	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	179					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F179S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CAATACTCCAAATTTATTTCC	0.333																																					Pancreas(159;946 1953 2111 4475 22008)												1	Substitution - Missense(1)	kidney(1)											156.0	160.0	159.0					10																	15879243		2203	4298	6501	SO:0001583	missense	80013			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.536T>C	10.37:g.15879243A>G	ENSP00000277632:p.Phe179Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742862	0.49151	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.27557	1.66;1.66;1.66	5.82	5.82	0.92795	.	0.140920	0.64402	D	0.000002	T	0.33206	0.0855	L	0.43152	1.355	0.80722	D	1	P	0.37914	0.611	P	0.46049	0.502	T	0.07046	-1.0793	10	0.22109	T	0.4	-19.2014	11.2768	0.49172	0.8638:0.0:0.0:0.1362	.	179	Q9H8M7	F188A_HUMAN	S	179;19;32	ENSP00000277632:F179S;ENSP00000388661:F19S;ENSP00000389883:F32S	ENSP00000277632:F179S	F	-	2	0	FAM188A	15919249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.023000	0.57211	2.217000	0.71921	0.482000	0.46254	TTT		0.333	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2		NM_024948	
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	126328192	126328192	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr4:126328192C>T	ENST00000394329.3	+	3	5478	c.5465C>T	c.(5464-5466)tCc>tTc	p.S1822F	FAT4_ENST00000335110.5_Missense_Mutation_p.S120F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1822	Cadherin 17. {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.S1822F(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						GGTCTTCAGTCCTCGGATATG	0.468																																																	2	Substitution - Missense(2)	kidney(2)											158.0	147.0	150.0					4																	126328192		2203	4300	6503	SO:0001583	missense	79633			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.5465C>T	4.37:g.126328192C>T	ENSP00000377862:p.Ser1822Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901468	0.52227	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01871	4.59;4.59	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.34386	U	0.004017	T	0.08935	0.0221	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.29119	-1.0022	10	0.41790	T	0.15	.	19.1712	0.93578	0.0:1.0:0.0:0.0	.	120;1822	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	F	1822;120	ENSP00000377862:S1822F;ENSP00000335169:S120F	ENSP00000335169:S120F	S	+	2	0	FAT4	126547642	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.428000	0.80296	2.582000	0.87167	0.650000	0.86243	TCC		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582	
MFAP2	4237	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17303611	17303611	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:17303611G>C	ENST00000375535.3	-	3	409	c.120C>G	c.(118-120)gaC>gaG	p.D40E	RP1-37C10.3_ENST00000446261.1_RNA|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000375534.3_Missense_Mutation_p.D39E|MFAP2_ENST00000438542.1_Missense_Mutation_p.D39E			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	40					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)		p.D40E(1)		kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TACCGATCTGGTCGCTATAGT	0.647																																																	1	Substitution - Missense(1)	kidney(1)											48.0	39.0	42.0					1																	17303611		2203	4300	6503	SO:0001583	missense	4237			BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.120C>G	1.37:g.17303611G>C	ENSP00000364685:p.Asp40Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	CCDS174.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486532	0.44249	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.33	3.4	0.38934	.	0.167958	0.27223	N	0.020344	T	0.42314	0.1197	L	0.44542	1.39	0.32183	N	0.580072	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.47509	-0.9112	9	0.33940	T	0.23	-9.7942	10.4793	0.44684	0.0:0.1982:0.8018:0.0	.	39;40	Q5JXY0;P55001	.;MFAP2_HUMAN	E	40;39;39	.	ENSP00000364684:D39E	D	-	3	2	MFAP2	17176198	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	1.313000	0.33585	0.934000	0.37316	0.462000	0.41574	GAC		0.647	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1		NM_002403	
GRHL3	57822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24666207	24666207	+	Silent	SNP	C	C	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:24666207C>G	ENST00000350501.5	+	8	1129	c.1002C>G	c.(1000-1002)gcC>gcG	p.A334A	GRHL3_ENST00000356046.2_Silent_p.A288A|GRHL3_ENST00000236255.4_Silent_p.A339A|GRHL3_ENST00000361548.4_Silent_p.A334A|GRHL3_ENST00000342072.4_Silent_p.A241A	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	334					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A339A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AGGAGGTGGCCTATAATGCAC	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											267.0	243.0	251.0					1																	24666207		2203	4300	6503	SO:0001819	synonymous_variant	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1002C>G	1.37:g.24666207C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	CCDS252.2																																																																																				0.527	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2		NM_021180	
MICAL2	9645	hgsc.bcm.edu	37	11	12243299	12243299	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr11:12243299G>A	ENST00000256194.4	+	10	1603	c.1315G>A	c.(1315-1317)Gct>Act	p.A439T	MICAL2_ENST00000537344.1_Missense_Mutation_p.A439T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A439T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A439T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A439T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	439	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)|zinc ion binding (GO:0008270)	p.A439T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGAGCTGCTGGCTGAAAGGTG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											62.0	57.0	58.0					11																	12243299		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1315G>A	11.37:g.12243299G>A	ENSP00000256194:p.Ala439Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642899	0.87859	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	4.93	4.93	0.64822	Calponin homology domain (1);	0.061993	0.64402	D	0.000006	T	0.43344	0.1243	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.992;0.998;0.999;0.999	D;P;D;D;D	0.75020	0.985;0.809;0.927;0.951;0.964	T	0.49624	-0.8920	10	0.87932	D	0	.	17.9297	0.88993	0.0:0.0:1.0:0.0	.	439;439;439;439;439	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	T	439	ENSP00000441689:A439T;ENSP00000256194:A439T;ENSP00000433965:A439T;ENSP00000344894:A439T;ENSP00000368932:A439T	ENSP00000256194:A439T	A	+	1	0	MICAL2	12199875	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.671000	0.83941	2.555000	0.86185	0.655000	0.94253	GCT		0.622	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632	
MYH7	4625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23894489	23894489	+	Splice_Site	SNP	A	A	T	rs111726379		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr14:23894489A>T	ENST00000355349.3	-	21	2586		c.e21+1			NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta						adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.?(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGATCTCTCACCTACGTTCC	0.552																																																	1	Unknown(1)	kidney(1)											98.0	79.0	85.0					14																	23894489		2203	4300	6503	SO:0001630	splice_region_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2423+1T>A	14.37:g.23894489A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Splice_Site	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028407	0.75390	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0021	0.64439	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH7	22964329	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	8.369000	0.90118	1.964000	0.57103	0.460000	0.39030	.		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257	Intron
ORC4	5000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	148693265	148693265	+	Silent	SNP	A	A	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr2:148693265A>T	ENST00000392857.5	-	14	1232	c.1125T>A	c.(1123-1125)gcT>gcA	p.A375A	ORC4_ENST00000264169.2_Silent_p.A375A|ORC4_ENST00000392858.1_Silent_p.A375A|ORC4_ENST00000542387.1_Silent_p.A158A|ORC4_ENST00000536575.1_Silent_p.A291A|ORC4_ENST00000535373.1_Silent_p.A375A|ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000540442.1_Silent_p.A301A	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	375					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.A375A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						AGTGTTCAAAAGCCTGAAAGA	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											76.0	79.0	78.0					2																	148693265		2202	4300	6502	SO:0001819	synonymous_variant	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1125T>A	2.37:g.148693265A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Silent	SNP	ENST00000392857.5	37	CCDS2187.1																																																																																				0.398	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3		NM_181742	
PIGK	10026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	77627328	77627328	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:77627328G>T	ENST00000370812.3	-	7	676	c.653C>A	c.(652-654)cCt>cAt	p.P218H	PIGK_ENST00000359130.1_Missense_Mutation_p.P218H|PIGK_ENST00000370813.5_Missense_Mutation_p.P142H|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.P124H	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	218					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.P218H(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						CATTATGTTAGGAGAATAAAA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											113.0	104.0	107.0					1																	77627328		2203	4300	6503	SO:0001583	missense	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.653C>A	1.37:g.77627328G>T	ENSP00000359848:p.Pro218His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	CCDS674.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428330	0.83667	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;0.996	T	0.76953	-0.2768	10	0.87932	D	0	-19.2516	17.6359	0.88122	0.0:0.0:1.0:0.0	.	142;124;218;218	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	H	218;124;142;218	ENSP00000359848:P218H;ENSP00000388854:P124H;ENSP00000359849:P142H;ENSP00000352041:P218H	ENSP00000352041:P218H	P	-	2	0	PIGK	77399916	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.396000	0.79891	2.454000	0.82982	0.650000	0.86243	CCT		0.378	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1		NM_005482	
PKD1L1	168507	broad.mit.edu;hgsc.bcm.edu	37	7	47869026	47869026	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:47869026T>G	ENST00000289672.2	-	44	6782	c.6732A>C	c.(6730-6732)gaA>gaC	p.E2244D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2244					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E2244D(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTTTACTTTTTCAACCTCGC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											65.0	71.0	69.0					7																	47869026		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6732A>C	7.37:g.47869026T>G	ENSP00000289672:p.Glu2244Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892223	0.33442	.	.	ENSG00000158683	ENST00000289672	T	0.19669	2.13	4.11	1.73	0.24493	.	1.614660	0.03691	N	0.247120	T	0.20333	0.0489	L	0.59436	1.845	0.09310	N	1	P	0.48764	0.915	B	0.36922	0.236	T	0.25882	-1.0119	10	0.44086	T	0.13	-3.216	5.2395	0.15464	0.0:0.2441:0.0:0.7559	.	2244	Q8TDX9	PK1L1_HUMAN	D	2244	ENSP00000289672:E2244D	ENSP00000289672:E2244D	E	-	3	2	PKD1L1	47835551	0.001000	0.12720	0.003000	0.11579	0.168000	0.22595	-0.018000	0.12568	0.186000	0.20125	0.460000	0.39030	GAA		0.413	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295	
RBM28	55131	broad.mit.edu;hgsc.bcm.edu	37	7	127979814	127979814	+	Silent	SNP	G	G	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:127979814G>A	ENST00000223073.2	-	2	264	c.150C>T	c.(148-150)gtC>gtT	p.V50V	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	50	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V50V(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGAAAAAGTGACATAGCCAA	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	85.0	88.0					7																	127979814		2203	4300	6503	SO:0001819	synonymous_variant	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.150C>T	7.37:g.127979814G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	CCDS5801.1																																																																																				0.483	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2		NM_018077	
PTPRN2	5799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	157475557	157475557	+	Missense_Mutation	SNP	C	C	G	rs144004975		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:157475557C>G	ENST00000389418.4	-	13	1870	c.1861G>C	c.(1861-1863)Gtc>Ctc	p.V621L	PTPRN2_ENST00000389413.3_Missense_Mutation_p.V592L|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V644L|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V583L|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V604L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	621					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V621L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCGAGGGAGACCAGGGTGAGC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											112.0	115.0	114.0					7																	157475557		2203	4300	6503	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1861G>C	7.37:g.157475557C>G	ENSP00000374069:p.Val621Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	6.312	0.425640	0.11987	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03358	3.97;3.97;3.97;3.97;3.96	4.73	1.46	0.22682	.	0.516966	0.14107	N	0.340972	T	0.03095	0.0091	L	0.37561	1.115	0.27760	N	0.943868	B;B;B;B;B	0.16802	0.019;0.004;0.007;0.001;0.004	B;B;B;B;B	0.17098	0.017;0.008;0.017;0.001;0.008	T	0.40997	-0.9533	10	0.37606	T	0.19	.	3.2471	0.06801	0.1028:0.1124:0.4045:0.3803	.	644;583;592;604;621	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	L	583;592;604;621;644	ENSP00000387114:V583L;ENSP00000374064:V592L;ENSP00000374067:V604L;ENSP00000374069:V621L;ENSP00000385464:V644L	ENSP00000374064:V592L	V	-	1	0	PTPRN2	157168318	0.141000	0.22595	0.165000	0.22776	0.623000	0.37688	0.047000	0.14056	0.005000	0.14708	0.655000	0.94253	GTC		0.587	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			
RSPH9	221421	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43613007	43613007	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr6:43613007T>C	ENST00000372163.4	+	1	225	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	RSPH9_ENST00000372165.4_Missense_Mutation_p.Y58H	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	58					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.Y58H(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGCCGATTACTACATCGCGCA	0.642									Kartagener syndrome																																								2	Substitution - Missense(2)	kidney(2)											44.0	44.0	44.0					6																	43613007		2197	4291	6488	SO:0001583	missense	221421	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.172T>C	6.37:g.43613007T>C	ENSP00000361236:p.Tyr58His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487070	0.26686	.	.	ENSG00000172426	ENST00000372165;ENST00000372163;ENST00000372154	T	0.49139	0.79	4.85	4.85	0.62838	.	0.068264	0.64402	D	0.000011	T	0.22627	0.0546	L	0.45352	1.415	0.39781	D	0.972302	B;B	0.22003	0.063;0.004	B;B	0.17433	0.018;0.004	T	0.08269	-1.0730	10	0.30854	T	0.27	.	10.8172	0.46583	0.0:0.0:0.0:1.0	.	58;58	Q96NH9;Q9H1X1	.;RSPH9_HUMAN	H	58;58;26	ENSP00000361236:Y58H	ENSP00000361227:Y26H	Y	+	1	0	RSPH9	43720985	1.000000	0.71417	0.991000	0.47740	0.056000	0.15407	5.202000	0.65169	1.795000	0.52594	0.460000	0.39030	TAC		0.642	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1		NM_152732	
SASS6	163786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100571393	100571393	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:100571393G>T	ENST00000287482.5	-	13	1615	c.1475C>A	c.(1474-1476)cCt>cAt	p.P492H	SASS6_ENST00000535161.1_Missense_Mutation_p.P325H|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	492					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.P492H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		AGTAGTAGAAGGTCCCAATAC	0.363																																																	1	Substitution - Missense(1)	kidney(1)											175.0	153.0	161.0					1																	100571393		2203	4300	6503	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1475C>A	1.37:g.100571393G>T	ENSP00000287482:p.Pro492His	Somatic		WXS	Illumina HiSeq	Phase_I	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	7.525	0.657525	0.14645	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.50813	2.31;0.73	5.05	2.1	0.27182	.	0.530450	0.18574	N	0.137227	T	0.16471	0.0396	L	0.42245	1.32	0.22552	N	0.998999	B	0.33512	0.415	B	0.33392	0.163	T	0.09443	-1.0674	10	0.35671	T	0.21	-0.0472	5.1637	0.15075	0.1775:0.0:0.6566:0.1659	.	492	Q6UVJ0	SAS6_HUMAN	H	492;465;325	ENSP00000287482:P492H;ENSP00000440169:P325H	ENSP00000287482:P492H	P	-	2	0	SASS6	100343981	0.012000	0.17670	0.441000	0.26858	0.005000	0.04900	1.419000	0.34793	0.496000	0.27904	-0.444000	0.05651	CCT		0.363	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2		NM_194292	
SH3TC1	54436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8217896	8217896	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr4:8217896G>T	ENST00000245105.3	+	6	607	c.540G>T	c.(538-540)ttG>ttT	p.L180F	SH3TC1_ENST00000539824.1_Missense_Mutation_p.L104F	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	180								p.L180F(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCTGCTCTTGCCCAGTGAGG	0.602																																					NSCLC(145;2298 2623 35616 37297)												1	Substitution - Missense(1)	kidney(1)											87.0	70.0	76.0					4																	8217896		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.540G>T	4.37:g.8217896G>T	ENSP00000245105:p.Leu180Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	8.669	0.902382	0.17760	.	.	ENSG00000125089	ENST00000509119;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76186	-1.0;-0.99	4.19	-4.87	0.03123	.	0.263305	0.31772	N	0.007086	T	0.51398	0.1672	N	0.22421	0.69	0.09310	N	1	B	0.22146	0.065	B	0.14578	0.011	T	0.36648	-0.9739	10	0.54805	T	0.06	9.0E-4	7.7628	0.28961	0.2923:0.5239:0.1838:0.0	.	180	Q8TE82	S3TC1_HUMAN	F	104;180;104;9	ENSP00000245105:L180F;ENSP00000441045:L104F	ENSP00000245105:L180F	L	+	3	2	SH3TC1	8268796	0.000000	0.05858	0.001000	0.08648	0.711000	0.40976	-2.368000	0.01077	-0.667000	0.05303	-0.300000	0.09419	TTG		0.602	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2		NM_018986	
SLC22A16	85413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110763477	110763477	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr6:110763477C>T	ENST00000368919.3	-	4	1219	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	SLC22A16_ENST00000330550.4_Missense_Mutation_p.G351S|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Missense_Mutation_p.G385S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	385					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.G385S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TATTCATTGCCTCCTAAGTTA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											71.0	69.0	69.0					6																	110763477		2203	4300	6503	SO:0001583	missense	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1153G>A	6.37:g.110763477C>T	ENSP00000357915:p.Gly385Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602488	0.87157	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.72394	-0.63;-0.63;-0.63;-0.63;-0.63;-0.65	4.89	4.01	0.46588	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.240344	0.43747	D	0.000539	T	0.77772	0.4180	M	0.79011	2.435	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.66847	0.947;0.913	T	0.80979	-0.1140	10	0.59425	D	0.04	.	13.182	0.59660	0.0:0.9218:0.0:0.0782	.	385;351	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	S	385;302;351;385;215;342	ENSP00000357915:G385S;ENSP00000395642:G302S;ENSP00000328583:G351S;ENSP00000408799:G385S;ENSP00000409306:G215S;ENSP00000416310:G342S	ENSP00000328583:G351S	G	-	1	0	SLC22A16	110870170	1.000000	0.71417	0.543000	0.28128	0.951000	0.60555	4.285000	0.58989	1.175000	0.42826	0.655000	0.94253	GGC		0.388	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1		NM_033125	
SLC35A4	113829	broad.mit.edu;ucsc.edu	37	5	139947164	139947164	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr5:139947164G>T	ENST00000514199.1	+	2	2096	c.410G>T	c.(409-411)cGc>cTc	p.R137L	SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137L|APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	137	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.R137L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCACCGCCTCTCTGTG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											41.0	42.0	42.0					5																	139947164		2203	4300	6503	SO:0001583	missense	113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.410G>T	5.37:g.139947164G>T	ENSP00000424566:p.Arg137Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077120	0.76415	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.49432	0.78;0.78	5.11	4.23	0.50019	.	0.062145	0.64402	D	0.000009	T	0.61949	0.2388	M	0.72894	2.215	0.54753	D	0.999985	D	0.56968	0.978	P	0.59115	0.852	T	0.64097	-0.6487	9	.	.	.	.	13.2176	0.59869	0.0774:0.0:0.9226:0.0	.	137	Q96G79	S35A4_HUMAN	L	137	ENSP00000327133:R137L;ENSP00000424566:R137L	.	R	+	2	0	SLC35A4	139927348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.395000	0.79876	1.381000	0.46364	0.514000	0.50259	CGC		0.592	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1		NM_080670	
SLC38A8	146167	hgsc.bcm.edu;ucsc.edu	37	16	84066953	84066953	+	Missense_Mutation	SNP	G	G	C	rs142587413	byFrequency	TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr16:84066953G>C	ENST00000299709.3	-	3	509	c.510C>G	c.(508-510)atC>atG	p.I170M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	170					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.I170M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGGAAGGCGATCTCCCGCG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											88.0	101.0	96.0					16																	84066953		2200	4300	6500	SO:0001583	missense	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.510C>G	16.37:g.84066953G>C	ENSP00000299709:p.Ile170Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000299709.3	37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781426	0.49891	.	.	ENSG00000166558	ENST00000299709	T	0.02472	4.28	4.77	1.6	0.23607	.	0.111276	0.64402	D	0.000014	T	0.12178	0.0296	M	0.77820	2.39	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	T	0.00337	-1.1807	10	0.48119	T	0.1	-7.5969	9.8714	0.41177	0.2316:0.0:0.7684:0.0	.	170	A6NNN8	S38A8_HUMAN	M	170	ENSP00000299709:I170M	ENSP00000299709:I170M	I	-	3	3	SLC38A8	82624454	0.004000	0.15560	0.982000	0.44146	0.648000	0.38561	-0.049000	0.11924	0.156000	0.19299	0.643000	0.83706	ATC		0.657	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1		NM_001080442	
SMC5	23137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	72897437	72897437	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr9:72897437A>C	ENST00000361138.5	+	7	977	c.919A>C	c.(919-921)Aca>Cca	p.T307P		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	307					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.T307P(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GATTCCTGTAACATGTCGAAT	0.363																																																	1	Substitution - Missense(1)	kidney(1)											93.0	90.0	91.0					9																	72897437		2203	4300	6503	SO:0001583	missense	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.919A>C	9.37:g.72897437A>C	ENSP00000354957:p.Thr307Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550352	0.45383	.	.	ENSG00000198887	ENST00000361138	T	0.18502	2.21	5.61	3.26	0.37387	RecF/RecN/SMC (1);	0.368055	0.30920	N	0.008605	T	0.27313	0.0670	L	0.47716	1.5	0.09310	N	1	D	0.61697	0.99	P	0.61800	0.894	T	0.04840	-1.0923	10	0.35671	T	0.21	-6.3819	9.587	0.39524	0.7948:0.0:0.2052:0.0	.	307	Q8IY18	SMC5_HUMAN	P	307	ENSP00000354957:T307P	ENSP00000354957:T307P	T	+	1	0	SMC5	72087257	0.018000	0.18449	0.036000	0.18154	0.635000	0.38103	1.479000	0.35453	0.500000	0.27991	0.528000	0.53228	ACA		0.363	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1		NM_015110	
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	86258029	86258029	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr6:86258029A>G	ENST00000314673.3	-	9	1033	c.857T>C	c.(856-858)cTa>cCa	p.L286P	SNX14_ENST00000369627.2_Missense_Mutation_p.L286P|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.L286P|SNX14_ENST00000505648.1_Missense_Mutation_p.L234P|SNX14_ENST00000346348.3_Missense_Mutation_p.L242P	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	286	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				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.L286P(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)		TGGATCAGCTAGGAAATCCAA	0.269																																																	1	Substitution - Missense(1)	kidney(1)											46.0	52.0	50.0					6																	86258029		2203	4296	6499	SO:0001583	missense	57231			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.857T>C	6.37:g.86258029A>G	ENSP00000313121:p.Leu286Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308694	0.60305	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.54479	0.84;0.91;0.57;0.95;0.94;1.02	4.51	4.51	0.55191	Phox-associated domain (2);	0.074629	0.53938	D	0.000047	T	0.65322	0.2680	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.997;0.998	D;D;D;D	0.70935	0.929;0.929;0.958;0.971	T	0.72178	-0.4369	10	0.87932	D	0	-8.8694	14.1438	0.65336	1.0:0.0:0.0:0.0	.	286;242;286;234	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	P	242;286;286;234;286;213	ENSP00000257769:L242P;ENSP00000313121:L286P;ENSP00000420938:L286P;ENSP00000427380:L234P;ENSP00000358641:L286P;ENSP00000425630:L213P	ENSP00000313121:L286P	L	-	2	0	SNX14	86314748	1.000000	0.71417	0.997000	0.53966	0.583000	0.36354	8.901000	0.92560	1.801000	0.52704	0.260000	0.18958	CTA		0.269	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2		NM_153816	
TACR3	6870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104512654	104512654	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr4:104512654G>T	ENST00000304883.2	-	4	1215	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	359					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.L359M(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTTTTATTCAGACAGCAGTAG	0.398																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											159.0	165.0	163.0					4																	104512654		2203	4300	6503	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1075C>A	4.37:g.104512654G>T	ENSP00000303325:p.Leu359Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311583	0.40895	.	.	ENSG00000169836	ENST00000304883	T	0.38401	1.14	5.21	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.65320	2	0.46061	D	0.998844	D	0.89917	1.0	D	0.79108	0.992	T	0.37454	-0.9705	10	0.22706	T	0.39	.	9.4264	0.38583	0.2345:0.0:0.7655:0.0	.	359	P29371	NK3R_HUMAN	M	359	ENSP00000303325:L359M	ENSP00000303325:L359M	L	-	1	2	TACR3	104732103	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.191000	0.65110	0.287000	0.22375	-0.140000	0.14226	CTG		0.398	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1		NM_001059	
TEKT4	150483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	95537442	95537442	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr2:95537442C>A	ENST00000295201.4	+	1	255	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.L40M	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	40					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L40M(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTCCAAGTACCTGCTGGAGGA	0.677																																																	1	Substitution - Missense(1)	kidney(1)											33.0	38.0	36.0					2																	95537442		2154	4201	6355	SO:0001583	missense	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.118C>A	2.37:g.95537442C>A	ENSP00000295201:p.Leu40Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.582041	0.28180	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.10960	3.9;2.82	1.97	1.97	0.26223	.	0.451628	0.21397	N	0.075214	T	0.09774	0.0240	N	0.08118	0	0.35738	D	0.818444	D	0.63880	0.993	P	0.55161	0.77	T	0.33650	-0.9860	10	0.59425	D	0.04	-2.9295	9.5816	0.39490	0.0:1.0:0.0:0.0	.	40	Q8WW24	TEKT4_HUMAN	M	40	ENSP00000295201:L40M;ENSP00000407596:L40M	ENSP00000295201:L40M	L	+	1	2	TEKT4	94901169	0.889000	0.30405	0.998000	0.56505	0.088000	0.18126	1.466000	0.35310	1.094000	0.41399	0.558000	0.71614	CTG		0.677	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1		NM_144705	
TMEM168	64418	hgsc.bcm.edu;ucsc.edu	37	7	112412960	112412960	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:112412960delA	ENST00000312814.6	-	4	1982	c.1422delT	c.(1420-1422)tttfs	p.F474fs	TMEM168_ENST00000454074.1_Frame_Shift_Del_p.F474fs|TMEM168_ENST00000480969.1_5'Flank	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	474						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCAGAGTATCAAATGACAGTC	0.408																																																	0													120.0	110.0	113.0					7																	112412960		2203	4300	6503	SO:0001589	frameshift_variant	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1422delT	7.37:g.112412960delA	ENSP00000323068:p.Phe474fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Frame_Shift_Del	DEL	ENST00000312814.6	37	CCDS5757.1																																																																																				0.408	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4		NM_022484	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188204	10188219	+	Frame_Shift_Del	DEL	TTTGGCTCTTCAGAGA	TTTGGCTCTTCAGAGA	-	rs5030830|rs5030832		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	TTTGGCTCTTCAGAGA	TTTGGCTCTTCAGAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:10188204_10188219delTTTGGCTCTTCAGAGA	ENST00000256474.2	+	2	1187_1202	c.347_362delTTTGGCTCTTCAGAGA	c.(346-363)ctttggctcttcagagatfs	p.LWLFRD116fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W117*(7)|p.D121Y(6)|p.W117R(5)|p.L118P(5)|p.W117C(4)|p.D121G(3)|p.W117fs*42(3)|p.F119L(3)|p.?(2)|p.W117fs*14(2)|p.D121fs*38(2)|p.W117L(2)|p.W117G(2)|p.L116L(1)|p.L118fs*14(1)|p.R120fs*38(1)|p.W117fs*40(1)|p.R120G(1)|p.D121_A122del(1)|p.H115fs*15(1)|p.R120S(1)|p.F119fs*11(1)|p.A122fs*7(1)|p.D121*(1)|p.R120fs*39(1)|p.R120*(1)|p.R120fs*34(1)|p.R120fs*10(1)|p.L118_G123>P(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.D121fs*11(1)|p.D121fs*10(1)|p.D121fs*35(1)|p.D121fs*12(1)|p.L118H(1)|p.W117fs*1(1)|p.F119fs*40(1)|p.W117S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACA	0.519		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	72	Substitution - Missense(34)|Deletion - Frameshift(21)|Substitution - Nonsense(9)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Substitution - coding silent(1)	kidney(66)|large_intestine(3)|upper_aerodigestive_tract(1)|adrenal_gland(1)|pancreas(1)	GRCh37	CD962176|CI951985|CI983254|CM014753|CM056724|CM056725|CM941373|CM941374|CM951286|CM951287|CM952202|CM961425|CM961426|HM971481	VHL	D|I|M	rs5030830|rs5030832																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.347_362delTTTGGCTCTTCAGAGA	3.37:g.10188204_10188219delTTTGGCTCTTCAGAGA	ENSP00000256474:p.Leu116fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.519	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
TRAT1	50852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108572551	108572551	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:108572551C>A	ENST00000295756.6	+	6	618	c.388C>A	c.(388-390)Cat>Aat	p.H130N	TRAT1_ENST00000426646.1_Missense_Mutation_p.H93N	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	130					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H130N(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACAGAATACTCATTTCTCAGA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											114.0	100.0	105.0					3																	108572551		2203	4300	6503	SO:0001583	missense	50852			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.388C>A	3.37:g.108572551C>A	ENSP00000295756:p.His130Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	4.701	0.130365	0.08981	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.34472	1.36;1.63	5.41	-2.88	0.05682	.	1.620550	0.03290	N	0.187400	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.15464	-1.0436	10	0.02654	T	1	-8.1012	1.8172	0.03102	0.1226:0.3839:0.2302:0.2632	.	93;130	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	N	130;93	ENSP00000295756:H130N;ENSP00000410097:H93N	ENSP00000295756:H130N	H	+	1	0	TRAT1	110055241	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.573000	0.05874	-0.640000	0.05495	0.655000	0.94253	CAT		0.463	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1		NM_016388	
APBA1	320	broad.mit.edu	37	9	72131197	72131197	+	Silent	SNP	G	G	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr9:72131197G>A	ENST00000265381.4	-	2	1152	c.930C>T	c.(928-930)cgC>cgT	p.R310R		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	310	Munc-18-1 binding.|Pro-rich.				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.R310R(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ggctgtcggggcgacccccgg	0.761																																																	1	Substitution - coding silent(1)	kidney(1)											5.0	5.0	5.0					9																	72131197		2058	4064	6122	SO:0001819	synonymous_variant	320			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.930C>T	9.37:g.72131197G>A		Somatic		WXS	Illumina GAIIx	Phase_I	O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	CCDS6630.1																																																																																				0.761	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2		NM_001163	
BAP1	8314	broad.mit.edu	37	3	52436397	52436397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:52436397delC	ENST00000460680.1	-	17	2568	c.2097delG	c.(2095-2097)cggfs	p.R701fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.R683fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q694fs*14(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTTGGCGCCGCCGCACGGAGA	0.657			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)											19.0	20.0	20.0					3																	52436397		2189	4287	6476	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2097delG	3.37:g.52436397delC	ENSP00000417132:p.Arg701fs	Somatic		WXS	Illumina GAIIx	Phase_I	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.657	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
GATA2	2624	broad.mit.edu	37	3	128199926	128199926	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:128199926T>G	ENST00000341105.2	-	6	1710	c.1379A>C	c.(1378-1380)cAc>cCc	p.H460P	GATA2_ENST00000487848.1_Missense_Mutation_p.H460P|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.H446P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	460					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H460P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGAGGAGGGGTGGATGGGCGT	0.687			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	1	Substitution - Missense(1)	kidney(1)											56.0	54.0	55.0					3																	128199926		2203	4300	6503	SO:0001583	missense	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1379A>C	3.37:g.128199926T>G	ENSP00000345681:p.His460Pro	Somatic		WXS	Illumina GAIIx	Phase_I	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990895	0.54041	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97598	-4.45;-4.45;-4.45	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.986	D	0.98871	1.0766	10	0.72032	D	0.01	-21.3494	14.5922	0.68373	0.0:0.0:0.0:1.0	.	446;460	P23769-2;P23769	.;GATA2_HUMAN	P	460;446;460	ENSP00000345681:H460P;ENSP00000400259:H446P;ENSP00000417074:H460P	ENSP00000345681:H460P	H	-	2	0	GATA2	129682616	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	6.192000	0.72069	1.909000	0.55274	0.402000	0.26972	CAC		0.687	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1		NM_032638	
LILRA2	11027	broad.mit.edu	37	19	55086976	55086976	+	Silent	SNP	C	C	T	rs200182124		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr19:55086976C>T	ENST00000251377.3	+	6	1042	c.909C>T	c.(907-909)tcC>tcT	p.S303S	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.S303S|LILRA2_ENST00000391737.1_Silent_p.S291S|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	303	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S303S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTCTCCTCCGAGTGGTCGG	0.672																																																	1	Substitution - coding silent(1)	kidney(1)											45.0	49.0	47.0					19																	55086976		2203	4299	6502	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.909C>T	19.37:g.55086976C>T		Somatic		WXS	Illumina GAIIx	Phase_I	O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.672	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			
TMEM39B	55116	broad.mit.edu	37	1	32557586	32557586	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:32557586G>T	ENST00000336294.5	+	6	1047	c.901G>T	c.(901-903)Gcc>Tcc	p.A301S	TMEM39B_ENST00000373634.4_Missense_Mutation_p.A102S|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000427288.1_Missense_Mutation_p.A186S|TMEM39B_ENST00000456834.2_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	301						integral component of membrane (GO:0016021)		p.A301S(1)|p.A174S(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTACTATGTGGCCTTTGTGCC	0.572																																																	2	Substitution - Missense(2)	kidney(2)											82.0	73.0	76.0					1																	32557586		2203	4300	6503	SO:0001583	missense	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.901G>T	1.37:g.32557586G>T	ENSP00000338165:p.Ala301Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	31	5.103836	0.94245	.	.	ENSG00000121775	ENST00000336294;ENST00000373634;ENST00000427288	.	.	.	4.95	4.95	0.65309	.	0.108232	0.64402	D	0.000006	T	0.79052	0.4381	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.979	P;D;P	0.87578	0.908;0.998;0.795	T	0.80600	-0.1310	9	0.56958	D	0.05	-16.4137	18.5641	0.91111	0.0:0.0:1.0:0.0	.	301;186;174	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	S	301;102;186	.	ENSP00000338165:A301S	A	+	1	0	TMEM39B	32330173	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.329000	0.96413	2.462000	0.83206	0.462000	0.41574	GCC		0.572	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2		NM_018056	
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	T	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr16:70268080T>C	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGG	0.373																																																	0																																												0																															16.37:g.70268080T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
PI4KB	5298	broad.mit.edu	37	1	151262327	151262328	+	IGR	INS	-	-	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:151262327_151262328insC	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Frame_Shift_Ins_p.P937fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCCCTGAGCCCCCCCGTCC	0.649																																					Colon(154;765 1838 9854 28443 37492)												0																																										SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262334_151262334dupC		Somatic		WXS	Illumina GAIIx	Phase_I	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Ins	INS	ENST00000368873.1	37																																																																																					0.649	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651	
