#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PYHIN1	149628	broad.mit.edu	37	1	158913599	158913599	+	Missense_Mutation	SNP	C	C	T	rs373907087		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr1:158913599C>T	ENST00000368140.1	+	6	1267	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.T341M|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T332M	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	341	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.T341M(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AATAGGAAGACGACAATCTAT	0.353																																						ENST00000368140.1																			1	Substitution - Missense(1)	p.T341M(1)	endometrium(1)	breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1021-1023)aCg>aTg		pyrin and HIN domain family, member 1		C	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	67.0	68.0	68.0		1022,995,1022,995	-6.3	0.0	1		68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	PYHIN1	NM_152501.4,NM_198928.4,NM_198929.4,NM_198930.3	81,81,81,81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	341/493,332/484,341/462,332/453	158913599	3,13003	2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158913599C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1022C>T	1.37:g.158913599C>T	ENSP00000357122:p.Thr341Met					PYHIN1_ENST00000392254.2_Missense_Mutation_p.T341M|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000485134.1_3'UTR	p.T341M	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			6	1267	+	all_hematologic(112;0.0378)		341			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1022C>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042168	0.19748	2.27E-4	2.33E-4	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	3.13	-6.26	0.02033	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.05318	0.0141	L	0.43152	1.355	0.09310	N	1	D;D;D;D	0.71674	0.998;0.992;0.998;0.998	P;P;P;P	0.56751	0.705;0.661;0.705;0.805	T	0.02901	-1.1096	9	0.35671	T	0.21	.	1.0541	0.01586	0.1724:0.1392:0.2911:0.3973	.	332;341;332;341	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	M	341;332;341;332	ENSP00000357122:T341M;ENSP00000357120:T332M;ENSP00000376083:T341M;ENSP00000376082:T332M	ENSP00000357120:T332M	T	+	2	0	PYHIN1	157180223	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.332000	0.00070	-2.049000	0.00906	-1.072000	0.02254	ACG		0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		8	28	8	28	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186063456	186063456	+	Silent	SNP	C	C	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr1:186063456C>A	ENST00000271588.4	+	67	10474	c.10245C>A	c.(10243-10245)gcC>gcA	p.A3415A	HMCN1_ENST00000367492.2_Silent_p.A3415A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3415	Ig-like C2-type 32.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGTGTGGCCTCCAACAGAG	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10243-10245)gcC>gcA		hemicentin 1							237.0	204.0	215.0					1																	186063456		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186063456C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10245C>A	1.37:g.186063456C>A						HMCN1_ENST00000367492.2_Silent_p.A3415A	p.A3415A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			67	10474	+			3415			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.10245C>A	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	29	8	29	---	---	---	---
DGUOK	1716	broad.mit.edu	37	2	74154094	74154094	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:74154094C>T	ENST00000264093.4	+	1	142	c.57C>T	c.(55-57)gcC>gcT	p.A19A	DGUOK_ENST00000348222.1_Silent_p.A19A|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Silent_p.A19A	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	19					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GTTCCATGGCCAAGAGCCCAC	0.637																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(55-57)gcC>gcT		deoxyguanosine kinase							49.0	46.0	47.0					2																	74154094		2203	4300	6503	SO:0001819	synonymous_variant	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74154094C>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.57C>T	2.37:g.74154094C>T						DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Silent_p.A19A|DGUOK_ENST00000348222.1_Silent_p.A19A	p.A19A	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			1	142	+			19					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	c.57C>T	CCDS1931.1																																																																																				0.637	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			3	42	3	42	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133538654	133538654	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:133538654C>A	ENST00000409261.1	-	15	5393	c.5020G>T	c.(5020-5022)Gcc>Tcc	p.A1674S	NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1674S|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1674										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCATATCGGCTTTGATTTTC	0.463																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5020-5022)Gcc>Tcc		NCK-associated protein 5							96.0	96.0	96.0					2																	133538654		1903	4119	6022	SO:0001583	missense	344148						protein binding	g.chr2:133538654C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5020G>T	2.37:g.133538654C>A	ENSP00000387128:p.Ala1674Ser					NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1674S	p.A1674S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			15	5393	-			1674					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5020G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990510	0.35131	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10099	2.91;2.91	5.35	3.56	0.40772	.	0.263211	0.18733	U	0.132679	T	0.10208	0.0250	N	0.24115	0.695	0.80722	D	1	P	0.45531	0.86	P	0.47075	0.536	T	0.24154	-1.0168	10	0.30854	T	0.27	.	9.9861	0.41843	0.0:0.8452:0.0:0.1548	.	1674	O14513	NCKP5_HUMAN	S	1674	ENSP00000387128:A1674S;ENSP00000380603:A1674S	ENSP00000380603:A1674S	A	-	1	0	NCKAP5	133255124	0.993000	0.37304	0.794000	0.32065	0.485000	0.33311	2.325000	0.43840	0.823000	0.34589	0.655000	0.94253	GCC		0.463	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		4	16	4	16	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133538754	133538754	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:133538754A>G	ENST00000409261.1	-	15	5293	c.4920T>C	c.(4918-4920)gcT>gcC	p.A1640A	NCKAP5_ENST00000317721.6_Silent_p.A1640A|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1640										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCTGCAGGAAGCATTACTTG	0.433																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4918-4920)gcT>gcC		NCK-associated protein 5							124.0	123.0	123.0					2																	133538754		1916	4132	6048	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133538754A>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4920T>C	2.37:g.133538754A>G						NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1640A	p.A1640A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			15	5293	-			1640					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4920T>C	CCDS46418.1																																																																																				0.433	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	35	8	35	---	---	---	---
SEPT2	4735	broad.mit.edu	37	2	242289493	242289493	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:242289493C>T	ENST00000391973.2	+	12	1518	c.990C>T	c.(988-990)cgC>cgT	p.R330R	SEPT2_ENST00000360051.3_Silent_p.R330R|SEPT2_ENST00000401990.1_Silent_p.R340R|SEPT2_ENST00000391971.2_Silent_p.R330R|AC005104.3_ENST00000414896.1_RNA|SEPT2_ENST00000407971.1_Silent_p.R290R|SEPT2_ENST00000402092.2_Silent_p.R330R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	330					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CACAGCTCCGCCGCATGCAAG	0.502																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(988-990)cgC>cgT		septin 2							41.0	38.0	39.0					2																	242289493		2203	4300	6503	SO:0001819	synonymous_variant	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242289493C>T	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.990C>T	2.37:g.242289493C>T						SEPT2_ENST00000360051.3_Silent_p.R330R|SEPT2_ENST00000401990.1_Silent_p.R340R|SEPT2_ENST00000402092.2_Silent_p.R330R|SEPT2_ENST00000391971.2_Silent_p.R330R|SEPT2_ENST00000407971.1_Silent_p.R290R	p.R330R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	12	1518	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	330					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	37	c.990C>T	CCDS2548.1																																																																																				0.502	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		3	14	3	14	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19498330	19498330	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr3:19498330G>T	ENST00000328405.2	+	11	2162	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	632					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGATGTAAAGGCTTTAACCT	0.393																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1894-1896)aaG>aaT		potassium voltage-gated channel, subfamily H (eag-related), member 8							158.0	144.0	149.0					3																	19498330		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19498330G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1896G>T	3.37:g.19498330G>T	ENSP00000328813:p.Lys632Asn						p.K632N	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			11	2162	+			632					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1896G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604117	0.66445	.	.	ENSG00000183960	ENST00000328405	D	0.97066	-4.23	5.58	1.77	0.24775	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.32563	U	0.005936	D	0.98223	0.9412	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97502	1.0061	9	.	.	.	.	8.4112	0.32644	0.4302:0.0:0.5698:0.0	.	632	Q96L42	KCNH8_HUMAN	N	632	ENSP00000328813:K632N	.	K	+	3	2	KCNH8	19473334	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.593000	0.36686	0.402000	0.25451	0.557000	0.71058	AAG		0.393	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		24	41	24	41	---	---	---	---
PNRC1	10957	broad.mit.edu	37	6	89793533	89793533	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr6:89793533A>G	ENST00000336032.3	+	2	719	c.602A>G	c.(601-603)cAt>cGt	p.H201R	PNRC1_ENST00000369472.1_Missense_Mutation_p.H16R|PNRC1_ENST00000354922.3_Missense_Mutation_p.H16R	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CAGCTTGTTCATGGTATACAC	0.358										Multiple Myeloma(7;0.094)																												ENST00000336032.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(601-603)cAt>cGt		proline-rich nuclear receptor coactivator 1							59.0	59.0	59.0					6																	89793533		2203	4300	6503	SO:0001583	missense	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89793533A>G	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.602A>G	6.37:g.89793533A>G	ENSP00000336931:p.His201Arg	Multiple Myeloma(7;0.094)				PNRC1_ENST00000369472.1_Missense_Mutation_p.H16R|PNRC1_ENST00000354922.3_Missense_Mutation_p.H16R	p.H201R	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	2	719	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	201					B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	c.602A>G	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.739131	0.30774	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.50277	0.94;0.75;0.94	5.73	3.24	0.37175	.	0.274240	0.40908	D	0.000996	T	0.15739	0.0379	L	0.29908	0.895	0.31871	N	0.6198	B	0.10296	0.003	B	0.11329	0.006	T	0.07616	-1.0763	10	0.39692	T	0.17	-3.6829	7.6137	0.28145	0.7883:0.1392:0.0725:0.0	.	201	Q12796	PNRC1_HUMAN	R	16;201;16	ENSP00000358484:H16R;ENSP00000336931:H201R;ENSP00000347000:H16R	ENSP00000336931:H201R	H	+	2	0	PNRC1	89850252	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.637000	0.67854	0.939000	0.37446	0.533000	0.62120	CAT		0.358	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		20	45	20	45	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963984	88963984	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:88963984A>C	ENST00000333190.4	+	4	2297	c.1688A>C	c.(1687-1689)aAg>aCg	p.K563T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	563							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGCCAAATAAGAGTGAATAT	0.348										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1687-1689)aAg>aCg		zinc finger protein 804B							42.0	45.0	44.0					7																	88963984		2193	4294	6487	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963984A>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1688A>C	7.37:g.88963984A>C	ENSP00000329638:p.Lys563Thr	HNSCC(36;0.09)					p.K563T	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2297	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		563					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1688A>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	0.066	-1.212398	0.01555	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	5.49	-3.08	0.05347	.	1.092620	0.06785	N	0.786046	T	0.02494	0.0076	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.48479	-0.9032	10	0.15952	T	0.53	2.4248	6.7737	0.23609	0.3045:0.3827:0.0:0.3128	.	563	A4D1E1	Z804B_HUMAN	T	563	ENSP00000329638:K563T	ENSP00000329638:K563T	K	+	2	0	ZNF804B	88801920	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.087000	0.11215	-0.678000	0.05224	0.533000	0.62120	AAG		0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	43	14	43	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519341	113519341	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:113519341A>G	ENST00000284601.3	-	4	1874	c.1806T>C	c.(1804-1806)caT>caC	p.H602H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	602					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CACTAGTCAAATGATGATGCT	0.433																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1804-1806)caT>caC		protein phosphatase 1, regulatory subunit 3A							123.0	119.0	120.0					7																	113519341		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519341A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1806T>C	7.37:g.113519341A>G							p.H602H	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1874	-			602					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1806T>C	CCDS5759.1																																																																																				0.433	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		6	104	6	104	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468857	10468857	+	Silent	SNP	C	C	T	rs373883834		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr8:10468857C>T	ENST00000382483.3	-	4	2974	c.2751G>A	c.(2749-2751)gcG>gcA	p.A917A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	917					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCGAGACCCCGCACCCTGGC	0.706																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2749-2751)gcG>gcA		retinitis pigmentosa 1-like 1		C		1,3885		0,1,1942	16.0	20.0	18.0		2751	-0.5	0.0	8		18	1,8215		0,1,4107	no	coding-synonymous	RP1L1	NM_178857.5		0,2,6049	TT,TC,CC		0.0122,0.0257,0.0165		917/2401	10468857	2,12100	1943	4108	6051	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10468857C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2751G>A	8.37:g.10468857C>T							p.A917A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2974	-			917					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2751G>A	CCDS43708.1																																																																																				0.706	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			3	17	3	17	---	---	---	---
CA2	760	broad.mit.edu	37	8	86386565	86386565	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr8:86386565C>T	ENST00000285379.5	+	4	594	c.364C>T	c.(364-366)Cac>Tac	p.H122Y		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	122					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCACTTGGTTCACTGGAACAC	0.408																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(364-366)Cac>Tac		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						159.0	167.0	164.0					8																	86386565		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86386565C>T	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.364C>T	8.37:g.86386565C>T	ENSP00000285379:p.His122Tyr						p.H122Y	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			4	594	+			122					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.364C>T	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647780	0.67358	.	.	ENSG00000104267	ENST00000285379	T	0.78924	-1.22	5.67	4.76	0.60689	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.92599	0.6089	10	0.87932	D	0	-21.313	15.1538	0.72723	0.1413:0.8587:0.0:0.0	.	122	P00918	CAH2_HUMAN	Y	122	ENSP00000285379:H122Y	ENSP00000285379:H122Y	H	+	1	0	CA2	86573817	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.794000	0.85869	2.660000	0.90430	0.650000	0.86243	CAC		0.408	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		25	56	25	56	---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13240783	13240783	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:13240783A>G	ENST00000484800.2	+	16	2320	c.2217A>G	c.(2215-2217)tcA>tcG	p.S739S	MCM10_ENST00000378694.1_Silent_p.S738S|MCM10_ENST00000378714.3_Silent_p.S738S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	739					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGCAAAATCAAAACACACAG	0.453																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(2212-2214)tcA>tcG		minichromosome maintenance complex component 10							76.0	74.0	75.0					10																	13240783		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13240783A>G	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2217A>G	10.37:g.13240783A>G						MCM10_ENST00000484800.2_Silent_p.S739S|MCM10_ENST00000378714.3_Silent_p.S738S	p.S738S			Q7L590	MCM10_HUMAN			15	2289	+			739					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.2214A>G	CCDS7096.1																																																																																				0.453	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		12	28	12	28	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16946102	16946102	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:16946102C>T	ENST00000377833.4	-	51	7990	c.7925G>A	c.(7924-7926)gGg>gAg	p.G2642E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2642	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCAGGGGCCCATCAGCATC	0.373																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7924-7926)gGg>gAg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						89.0	86.0	87.0					10																	16946102		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16946102C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7925G>A	10.37:g.16946102C>T	ENSP00000367064:p.Gly2642Glu						p.G2642E	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			51	7990	-			2642			CUB 19.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7925G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962256	0.74016	.	.	ENSG00000107611	ENST00000377833	T	0.29655	1.56	5.21	5.21	0.72293	CUB (5);	0.174753	0.27424	N	0.019433	T	0.52338	0.1728	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.40572	-0.9556	10	0.34782	T	0.22	.	19.0983	0.93263	0.0:1.0:0.0:0.0	.	2642	O60494	CUBN_HUMAN	E	2642	ENSP00000367064:G2642E	ENSP00000367064:G2642E	G	-	2	0	CUBN	16986108	1.000000	0.71417	0.872000	0.34217	0.554000	0.35429	6.662000	0.74426	2.579000	0.87056	0.591000	0.81541	GGG		0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		16	39	16	39	---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88702686	88702686	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:88702686G>C	ENST00000372027.5	-	6	2176	c.1855C>G	c.(1855-1857)Ctg>Gtg	p.L619V	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	619					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						ATCTCCTCCAGCACCTCCTCC	0.731																																						ENST00000372027.5																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1855-1857)Ctg>Gtg		multimerin 2							18.0	16.0	17.0					10																	88702686		2192	4282	6474	SO:0001583	missense	79812					extracellular space		g.chr10:88702686G>C	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1855C>G	10.37:g.88702686G>C	ENSP00000361097:p.Leu619Val						p.L619V	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	2176	-								Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1855C>G	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	8.417	0.845412	0.16963	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.25085	1.82	5.24	-10.5	0.00291	.	1.573380	0.03946	N	0.287629	T	0.13628	0.0330	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19445	0.008;0.003;0.036	B;B;B	0.14023	0.005;0.002;0.01	T	0.13361	-1.0512	10	0.30078	T	0.28	-3.2037	13.5783	0.61888	0.068:0.1039:0.6596:0.1685	.	397;558;619	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	V	619;397	ENSP00000361097:L619V	ENSP00000361097:L619V	L	-	1	2	MMRN2	88692666	0.004000	0.15560	0.001000	0.08648	0.779000	0.44077	-1.291000	0.02775	-2.472000	0.00529	-0.738000	0.03535	CTG		0.731	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		3	12	3	12	---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44092838	44092838	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr11:44092838A>G	ENST00000263776.8	+	3	755	c.321A>G	c.(319-321)aaA>aaG	p.K107K	ACCS_ENST00000432284.2_Silent_p.K107K|ACCS_ENST00000533208.1_3'UTR|CTD-2609K8.3_ENST00000531268.1_RNA	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	107					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GTGAGAACAAACTCTGCTTTG	0.582																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(319-321)aaA>aaG		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							139.0	127.0	131.0					11																	44092838		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44092838A>G	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.321A>G	11.37:g.44092838A>G						ACCS_ENST00000432284.2_Silent_p.K107K|ACCS_ENST00000533208.1_3'UTR	p.K107K	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			3	755	+			107					B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	c.321A>G	CCDS7907.1																																																																																				0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		4	81	4	81	---	---	---	---
ZBTB44	29068	broad.mit.edu	37	11	130109742	130109742	+	Silent	SNP	C	C	T	rs199833780		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr11:130109742C>T	ENST00000357899.4	-	3	1340	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	ZBTB44_ENST00000525842.1_Silent_p.T356T|ZBTB44_ENST00000397753.1_Silent_p.T356T|ZBTB44_ENST00000530205.1_Silent_p.T356T			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TAGTGCTAGACGTGCTTTGAA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		17448	0.0		0.001	False		,,,				2504	0.0					ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1066-1068)acG>acA		zinc finger and BTB domain containing 44		C		0,3892		0,0,1946	139.0	133.0	135.0		1068	-3.8	0.9	11		135	1,8325		0,1,4162	no	coding-synonymous	ZBTB44	NM_014155.4		0,1,6108	TT,TC,CC		0.012,0.0,0.0082		356/454	130109742	1,12217	1946	4163	6109	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130109742C>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1068G>A	11.37:g.130109742C>T						ZBTB44_ENST00000357899.4_Silent_p.T356T|ZBTB44_ENST00000530205.1_Silent_p.T356T|ZBTB44_ENST00000397753.1_Silent_p.T356T	p.T356T	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	3	1435	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	356					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.1068G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	2.061|2.061	-0.415282|-0.415282	0.04766|0.04766	0.0|0.0	1.2E-4|1.2E-4	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000527478	.|.	.|.	.|.	5.54|5.54	-3.77|-3.77	0.04346|0.04346	.|.	.|.	.|.	.|.	.|.	T|T	0.50718|0.50718	0.1632|0.1632	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49031|0.49031	-0.8981|-0.8981	4|4	.|.	.|.	.|.	.|.	7.87|7.87	0.29561|0.29561	0.1551:0.4612:0.3837:0.0|0.1551:0.4612:0.3837:0.0	.|.	.|.	.|.	.|.	H|I	210|353	.|.	.|.	R|V	-|-	2|1	0|0	ZBTB44|ZBTB44	129614952|129614952	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.081000|0.081000	0.17604|0.17604	1.107000|1.107000	0.31110|0.31110	-0.567000|-0.567000	0.06046|0.06046	-0.310000|-0.310000	0.09108|0.09108	CGT|GTC		0.438	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		3	15	3	15	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53242526	53242526	+	Silent	SNP	C	C	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr12:53242526C>A	ENST00000304620.4	-	1	252	c.189G>T	c.(187-189)ggG>ggT	p.G63G	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	63	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAACCGCACCCCCAGCCTAC	0.642																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(187-189)ggG>ggT		keratin 78							30.0	29.0	29.0					12																	53242526		2203	4300	6503	SO:0001819	synonymous_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242526C>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.189G>T	12.37:g.53242526C>A							p.G63G	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	252	-			63			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	c.189G>T	CCDS8840.1																																																																																				0.642	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		6	11	6	11	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130897244	130897244	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr12:130897244A>G	ENST00000261655.4	-	15	2904	c.2741T>C	c.(2740-2742)aTa>aCa	p.I914T		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	914	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATCTGCTTGTATCTCAGAGAC	0.478																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2740-2742)aTa>aCa		RIMS binding protein 2							118.0	112.0	114.0					12																	130897244		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130897244A>G	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2741T>C	12.37:g.130897244A>G	ENSP00000261655:p.Ile914Thr						p.I914T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	15	2904	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	914			SH3 2.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2741T>C	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168882	0.57584	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.09163	3.01;3.01	5.06	5.06	0.68205	Src homology-3 domain (3);Variant SH3 (1);	0.113461	0.64402	D	0.000014	T	0.20047	0.0482	M	0.69248	2.105	0.80722	D	1	P	0.48998	0.918	P	0.47299	0.543	T	0.01165	-1.1431	10	0.87932	D	0	-24.8959	14.8261	0.70113	1.0:0.0:0.0:0.0	.	914	O15034	RIMB2_HUMAN	T	914;51	ENSP00000261655:I914T;ENSP00000439030:I51T	ENSP00000261655:I914T	I	-	2	0	RIMBP2	129463197	1.000000	0.71417	0.831000	0.32960	0.055000	0.15305	9.249000	0.95470	1.896000	0.54893	0.533000	0.62120	ATA		0.478	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		4	45	4	45	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101944385	101944385	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr13:101944385T>A	ENST00000251127.6	-	9	1084	c.1003A>T	c.(1003-1005)Atg>Ttg	p.M335L	NALCN_ENST00000376196.3_Missense_Mutation_p.M335L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	335					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATCCCCACATTTGTTGAAAC	0.418																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1003-1005)Atg>Ttg		sodium leak channel, non-selective							294.0	231.0	252.0					13																	101944385		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944385T>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1003A>T	13.37:g.101944385T>A	ENSP00000251127:p.Met335Leu					NALCN_ENST00000376196.3_Missense_Mutation_p.M335L|NALCN_ENST00000470333.1_5'UTR	p.M335L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			9	1084	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		335					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1003A>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100425	0.76983	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98280	-4.51;-4.84	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.64997	1.995	0.80722	D	1	B;B;B	0.26120	0.1;0.142;0.045	B;B;B	0.27500	0.08;0.043;0.08	D	0.95529	0.8601	10	0.46703	T	0.11	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	335;335;335	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	L	335	ENSP00000251127:M335L;ENSP00000365367:M335L	ENSP00000251127:M335L	M	-	1	0	NALCN	100742386	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	ATG		0.418	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		9	34	9	34	---	---	---	---
CCNB1IP1	57820	broad.mit.edu	37	14	20781932	20781932	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr14:20781932T>C	ENST00000398169.3	-	6	942	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.Y109C			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	109					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCTGAAATTGTATTCTTGATA	0.353			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(325-327)tAc>tGc		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							45.0	42.0	43.0					14																	20781932		2203	4298	6501	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20781932T>C	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.326A>G	14.37:g.20781932T>C	ENSP00000381235:p.Tyr109Cys					CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.Y109C	p.Y109C			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	6	942	-	all_cancers(95;0.00092)	all_lung(585;0.235)	109						Missense_Mutation	SNP	ENST00000398169.3	37	c.326A>G	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164054	0.78339	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.74647	2.275	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.80634	-0.1295	9	0.62326	D	0.03	-11.9413	14.3586	0.66754	0.0:0.0:0.0:1.0	.	109	Q9NPC3	CIP1_HUMAN	C	109	.	ENSP00000337396:Y109C	Y	-	2	0	CCNB1IP1	19851772	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.416000	0.66417	2.047000	0.60756	0.459000	0.35465	TAC		0.353	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		13	38	13	38	---	---	---	---
SNRPA1	6627	broad.mit.edu	37	15	101832175	101832175	+	Missense_Mutation	SNP	C	C	T	rs369821067		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr15:101832175C>T	ENST00000254193.6	-	3	373	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	101					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCAGTTCCACGAGACTATTA	0.388																																						ENST00000254193.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(301-303)Gtg>Atg		small nuclear ribonucleoprotein polypeptide A'		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	168.0	179.0	175.0		301	2.1	0.9	15		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNRPA1	NM_003090.2	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	101/256	101832175	2,13004	2203	4300	6503	SO:0001583	missense	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101832175C>T	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.301G>A	15.37:g.101832175C>T	ENSP00000254193:p.Val101Met					SNRPA1_ENST00000560856.1_5'UTR	p.V101M	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	373	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		101					B2R5I6|Q8TBD2	Missense_Mutation	SNP	ENST00000254193.6	37	c.301G>A	CCDS10391.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934732	0.34189	2.27E-4	1.16E-4	ENSG00000131876	ENST00000254193	T	0.23754	1.89	5.23	2.09	0.27110	.	0.614285	0.17139	N	0.185525	T	0.16981	0.0408	L	0.36672	1.1	0.27356	N	0.9561	B	0.14805	0.011	B	0.04013	0.001	T	0.14476	-1.0471	10	0.41790	T	0.15	-11.5504	5.1465	0.14987	0.3987:0.4454:0.0:0.1559	.	101	P09661	RU2A_HUMAN	M	101	ENSP00000254193:V101M	ENSP00000254193:V101M	V	-	1	0	SNRPA1	99649698	0.952000	0.32445	0.907000	0.35723	0.963000	0.63663	1.297000	0.33400	0.561000	0.29186	0.655000	0.94253	GTG		0.388	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		48	128	48	128	---	---	---	---
NPIPA1	9284	broad.mit.edu	37	16	15045869	15045869	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr16:15045869T>C	ENST00000328085.6	+	8	1040	c.1040T>C	c.(1039-1041)aTc>aCc	p.I347T	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	347					mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CGGATGATAATCTCAAGAAAC	0.413																																						ENST00000328085.6																			0											c.(1039-1041)aTc>aCc		nuclear pore complex interacting protein family, member A1							27.0	35.0	32.0					16																	15045869		1279	2278	3557	SO:0001583	missense	9284							g.chr16:15045869T>C	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.1040T>C	16.37:g.15045869T>C	ENSP00000331843:p.Ile347Thr					NPIPA1_ENST00000472413.1_3'UTR	p.I347T	NM_006985.2	NP_008916.2					8	1040	+								O15102	Missense_Mutation	SNP	ENST00000328085.6	37	c.1040T>C	CCDS10557.1	.	.	.	.	.	.	.	.	.	.	.	1.844	-0.466763	0.04476	.	.	ENSG00000183426	ENST00000432470;ENST00000328085	T	0.51071	0.72	.	.	.	.	.	.	.	.	T	0.32882	0.0844	N	0.14661	0.345	0.09310	N	1	P	0.44006	0.824	P	0.46208	0.507	T	0.19679	-1.0298	7	0.72032	D	0.01	.	.	.	.	.	347	Q9UND3	NPIP_HUMAN	T	347	ENSP00000331843:I347T	ENSP00000331843:I347T	I	+	2	0	NPIP	14953370	0.076000	0.21285	0.022000	0.16811	0.022000	0.10575	0.056000	0.14256	0.064000	0.16427	0.063000	0.15292	ATC		0.413	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		7	66	7	66	---	---	---	---
PIH1D1	55011	broad.mit.edu	37	19	49949879	49949879	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr19:49949879G>A	ENST00000262265.5	-	8	995	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	PIH1D1_ENST00000596049.1_Missense_Mutation_p.H254Y|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	254					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCGTCTAGATGATACAGCTGC	0.622																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(760-762)Cat>Tat		PIH1 domain containing 1							63.0	71.0	68.0					19																	49949879		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49949879G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.760C>T	19.37:g.49949879G>A	ENSP00000262265:p.His254Tyr					PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.H254Y	p.H254Y	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	8	995	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	254					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.760C>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	1.421	-0.572922	0.03882	.	.	ENSG00000104872	ENST00000262265	T	0.17528	2.27	3.88	1.7	0.24286	.	0.057187	0.64402	D	0.000002	T	0.12860	0.0312	L	0.47716	1.5	0.37402	D	0.912877	B	0.02656	0.0	B	0.04013	0.001	T	0.09662	-1.0664	10	0.36615	T	0.2	-11.653	5.7237	0.18000	0.1103:0.1968:0.6928:0.0	.	254	Q9NWS0	PIHD1_HUMAN	Y	254	ENSP00000262265:H254Y	ENSP00000262265:H254Y	H	-	1	0	PIH1D1	54641691	0.987000	0.35691	0.895000	0.35142	0.540000	0.34992	1.640000	0.37186	0.418000	0.25898	-0.137000	0.14449	CAT		0.622	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		33	75	33	75	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55340907	55340907	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr19:55340907C>T	ENST00000391728.4	+	7	1125	c.1092C>T	c.(1090-1092)tgC>tgT	p.C364C	KIR3DL1_ENST00000358178.4_Silent_p.C269C|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Silent_p.C364C|KIR3DL1_ENST00000326542.7_Silent_p.C347C|KIR3DL1_ENST00000541392.1_Silent_p.C347C	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	364					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		atctcTGGTGCTCCAACAAAA	0.532																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1090-1092)tgC>tgT		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							175.0	135.0	149.0					19																	55340907		2170	4147	6317	SO:0001819	synonymous_variant	3811							g.chr19:55340907C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1092C>T	19.37:g.55340907C>T						KIR3DL1_ENST00000358178.4_Silent_p.C269C|KIR3DL1_ENST00000326542.7_Silent_p.C347C|KIR3DL1_ENST00000541392.1_Silent_p.C347C|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Silent_p.C364C	p.C364C	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	7	1125	+								O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.1092C>T	CCDS42621.1																																																																																				0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		6	47	6	47	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9365016	9365016	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr20:9365016C>A	ENST00000378493.1	+	11	1037	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	PLCB4_ENST00000378473.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.S341Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.S341Y			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	341	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCGGGAAGTCTTCGGTAGAA	0.443																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1021-1023)tCt>tAt		phospholipase C, beta 4							99.0	92.0	95.0					20																	9365016		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9365016C>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1022C>A	20.37:g.9365016C>A	ENSP00000367754:p.Ser341Tyr					PLCB4_ENST00000334005.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.S341Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.S341Y	p.S341Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			11	1037	+			341			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1022C>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954380	0.92726	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.105504	0.64402	D	0.000002	D	0.91516	0.7321	H	0.98701	4.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.962;0.996;1.0	D;P;D;D	0.91635	0.999;0.788;0.993;0.998	D	0.94349	0.7577	10	0.87932	D	0	.	20.1008	0.97874	0.0:1.0:0.0:0.0	.	341;188;341;341	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Y	341;341;341;341;341;177	ENSP00000334105:S341Y;ENSP00000367734:S341Y;ENSP00000278655:S341Y;ENSP00000367754:S341Y;ENSP00000367762:S341Y;ENSP00000390616:S177Y	ENSP00000278655:S341Y	S	+	2	0	PLCB4	9313016	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.756000	0.94617	0.563000	0.77884	TCT		0.443	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			7	52	7	52	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16485058	16485059	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr20:16485058_16485059CA>TG	ENST00000354981.2	-	10	1291_1292	c.1134_1135TG>CA	c.(1132-1137)gcTGaa>gcCAaa	p.E379K	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.E379K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E379K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	379					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGGCTATTTCAGCTCGCAGCT	0.411																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1135-1137)Gaa>Aaa|c.(1132-1134)gcT>gcC		kinesin family member 16B																																				SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16485058C>T|g.chr20:16485059A>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1134_1135delinsTG	20.37:g.16485058_16485059delinsTG	ENSP00000347076:p.Glu379Lys					KIF16B_ENST00000408042.1_Missense_Mutation_p.E379K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E379K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.A378A|KIF16B_ENST00000355755.3_Silent_p.A378A|KIF16B_ENST00000378003.2_5'UTR	p.E379K|p.A378A	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			10	1292|1291	-			379|378					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation|Silent	SNP	ENST00000354981.2	37	c.1135G>A|c.1134T>C	CCDS13122.1																																																																																				0.411	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		56	108|107	56	107	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47961679	47961679	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr21:47961679C>T	ENST00000417564.2	+	18	2068	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	DIP2A_ENST00000400274.1_Silent_p.L679L|DIP2A_ENST00000427143.2_Silent_p.L619L|DIP2A_ENST00000318711.7_Silent_p.L684L|DIP2A_ENST00000466639.1_Silent_p.L640L|DIP2A_ENST00000457905.3_Silent_p.L683L|DIP2A_ENST00000435722.3_Silent_p.L683L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	683					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCCACCTGATCTGGGAGGACC	0.488																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2050-2052)Ctg>Ttg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							95.0	93.0	93.0					21																	47961679		1909	4126	6035	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47961679C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2047C>T	21.37:g.47961679C>T						DIP2A_ENST00000417564.2_Silent_p.L683L|DIP2A_ENST00000466639.1_Silent_p.L640L|DIP2A_ENST00000427143.2_Silent_p.L619L|DIP2A_ENST00000400274.1_Silent_p.L679L|DIP2A_ENST00000457905.3_Silent_p.L683L|DIP2A_ENST00000435722.3_Silent_p.L683L	p.L684L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	18	2233	+	Breast(49;0.0933)		683					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.2050C>T	CCDS46655.1																																																																																				0.488	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		4	34	4	34	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151845543	151845555	+	Frame_Shift_Del	DEL	TTAATGGCGCAAG	TTAATGGCGCAAG	-	rs138230031		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:151845543_151845555delTTAATGGCGCAAG	ENST00000262189.6	-	52	13675_13687	c.13457_13469delCTTGCGCCATTAA	c.(13456-13470)acttgcgccattaaafs	p.TCAIK4486fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.TCAIK4543fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4486					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCATTGTGCTTTAATGGCGCAAGTGAAGTGATA	0.432																																						ENST00000355193.2																			0											c.(13627-13641)acttgcgccattaaafs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151845543_151845555delTTAATGGCGCAAG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13457_13469delCTTGCGCCATTAA	7.37:g.151845543_151845555delTTAATGGCGCAAG	ENSP00000262189:p.Thr4486fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.TCAIK4486fs	p.TCAIK4543fs							53	13846_13858	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.13628_13640delCTTGCGCCATTAA	CCDS5931.1																																																																																				0.432	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			30	97	30	97	---	---	---	---
