#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
PRAMEF11	440560	broad.mit.edu	37	1	12887550	12887550	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:12887550C>T	ENST00000535591.1	-	3	502	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	103					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCTGCCGTTCTCTCATCCTT	0.502																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(307-309)Gaa>Aaa		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887550C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.307G>A	1.37:g.12887550C>T	ENSP00000439551:p.Glu103Lys		Somatic					p.E103K	NM_001146344.1	NP_001139816.1	WXS	Illumina GAIIx	Phase_I	O60813	PRA11_HUMAN			3	502	-			103						Missense_Mutation	SNP	ENST00000535591.1	37	c.307G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.521	-0.862357	0.02610	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04654	3.58;3.58	1.48	-2.96	0.05547	.	3.942340	0.00939	N	0.002815	T	0.04092	0.0114	L	0.39566	1.225	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.39961	-0.9588	10	0.06494	T	0.89	.	4.6731	0.12699	0.0:0.3117:0.513:0.1753	.	103	O60813	PRA11_HUMAN	K	103;144;103	ENSP00000439551:E103K;ENSP00000391839:E103K	ENSP00000328783:E144K	E	-	1	0	PRAMEF11	12810137	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.065000	0.03458	-1.019000	0.03358	-0.498000	0.04607	GAA		0.502	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		66	244	66	244	---	---	---	---
GBP4	115361	broad.mit.edu	37	1	89652043	89652043	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:89652043A>T	ENST00000355754.6	-	10	1777	c.1680T>A	c.(1678-1680)caT>caA	p.H560Q	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	560						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCAGCCTTTCATGCTCTCTGA	0.478																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1678-1680)caT>caA		guanylate binding protein 4							201.0	152.0	169.0					1																	89652043		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89652043A>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1680T>A	1.37:g.89652043A>T	ENSP00000359490:p.His560Gln		Somatic					p.H560Q	NM_052941.4	NP_443173.2	WXS	Illumina GAIIx	Phase_I	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	10	1777	-			560					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1680T>A	CCDS721.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.479204	0.01035	.	.	ENSG00000162654	ENST00000355754	T	0.46819	0.86	4.39	-6.0	0.02206	Guanylate-binding protein, C-terminal (3);	0.530488	0.20312	N	0.094806	T	0.01835	0.0058	N	0.00583	-1.355	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29427	-1.0012	10	0.02654	T	1	.	0.4462	0.00494	0.2112:0.283:0.1974:0.3084	.	560	Q96PP9	GBP4_HUMAN	Q	560	ENSP00000359490:H560Q	ENSP00000359490:H560Q	H	-	3	2	GBP4	89424631	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.886000	0.04157	-1.027000	0.03325	-2.414000	0.00220	CAT		0.478	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		19	78	19	78	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186136032	186136032	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:186136032G>A	ENST00000271588.4	+	100	15761	c.15532G>A	c.(15532-15534)Gga>Aga	p.G5178R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5178	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						GGTCCGTTGTGGAAGTGGCTT	0.453																																						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.(15532-15534)Gga>Aga		hemicentin 1							220.0	188.0	199.0					1																	186136032		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186136032G>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.15532G>A	1.37:g.186136032G>A	ENSP00000271588:p.Gly5178Arg		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R	p.G5178R	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			100	15761	+			5178			EGF-like 2; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15532G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539053	0.45176	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87256	-2.23;-2.23	5.39	5.39	0.77823	EGF-like calcium-binding (2);	0.094003	0.64402	D	0.000001	T	0.74658	0.3745	N	0.02225	-0.63	0.58432	D	0.999999	B	0.33477	0.413	B	0.38616	0.277	T	0.76462	-0.2950	10	0.37606	T	0.19	.	14.7787	0.69749	0.0716:0.0:0.9284:0.0	.	5178	Q96RW7	HMCN1_HUMAN	R	5178	ENSP00000271588:G5178R;ENSP00000356462:G5178R	ENSP00000271588:G5178R	G	+	1	0	HMCN1	184402655	1.000000	0.71417	0.960000	0.40013	0.429000	0.31625	7.359000	0.79477	2.677000	0.91161	0.655000	0.94253	GGA		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	57	17	57	---	---	---	---
ALPI	248	broad.mit.edu	37	2	233323610	233323610	+	Silent	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr2:233323610G>A	ENST00000295463.3	+	11	1418	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	447					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCCCCTGTCGTCCGAGACCC	0.692																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1339-1341)tcG>tcA		alkaline phosphatase, intestinal							19.0	22.0	21.0					2																	233323610		2191	4293	6484	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323610G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1341G>A	2.37:g.233323610G>A			Somatic					p.S447S	NM_001631.3	NP_001622.2	WXS	Illumina GAIIx	Phase_I	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	11	1418	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	447					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.1341G>A	CCDS2492.1																																																																																				0.692	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		4	15	4	15	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70146412	70146412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr4:70146412A>G	ENST00000335568.5	+	1	196	c.194A>G	c.(193-195)gAt>gGt	p.D65G	UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	65					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTCTTTTTGATCCCAATGAC	0.383																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(193-195)gAt>gGt		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						107.0	127.0	120.0					4																	70146412		2053	4238	6291	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146412A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.194A>G	4.37:g.70146412A>G	ENSP00000334276:p.Asp65Gly		Somatic				UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G	p.D65G	NM_053039.1	NP_444267.1	WXS	Illumina GAIIx	Phase_I	Q9BY64	UDB28_HUMAN			1	196	+			65					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.194A>G	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	7.558	0.664142	0.14710	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.59906	0.23;0.23	2.18	0.751	0.18392	.	0.265381	0.30483	U	0.009525	T	0.38719	0.1051	L	0.33753	1.03	0.09310	N	1	B;B	0.21606	0.058;0.005	B;B	0.25987	0.065;0.02	T	0.17837	-1.0356	10	0.17832	T	0.49	.	5.6871	0.17809	0.8414:0.0:0.1586:0.0	.	65;65	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	G	65	ENSP00000334276:D65G;ENSP00000427399:D65G	ENSP00000334276:D65G	D	+	2	0	UGT2B28	70181001	0.013000	0.17824	0.002000	0.10522	0.013000	0.08279	1.992000	0.40737	0.066000	0.16515	0.155000	0.16302	GAT		0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		2	4	2	4	---	---	---	---
TRPC3	7222	broad.mit.edu	37	4	122824123	122824123	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr4:122824123C>A	ENST00000379645.3	-	9	2420	c.2347G>T	c.(2347-2349)Gtt>Ttt	p.V783F	TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F|TRPC3_ENST00000264811.5_Missense_Mutation_p.V710F	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	698	Binds to IP3R3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGACTAGGAACTAGACTGAAA	0.378																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2128-2130)Gtt>Ttt		transient receptor potential cation channel, subfamily C, member 3							113.0	110.0	111.0					4																	122824123		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122824123C>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2347G>T	4.37:g.122824123C>A	ENSP00000368966:p.Val783Phe		Somatic				TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F|TRPC3_ENST00000379645.3_Missense_Mutation_p.V783F	p.V710F	NM_003305.2	NP_003296.1	WXS	Illumina GAIIx	Phase_I	Q13507	TRPC3_HUMAN			8	2546	-			698					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.2128G>T	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026820	0.75390	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.85258	-1.96;-1.96;-1.96	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000002	D	0.83330	0.5231	L	0.45352	1.415	0.80722	D	1	B;B;B	0.17667	0.01;0.023;0.023	B;B;B	0.23419	0.019;0.046;0.046	T	0.77960	-0.2391	10	0.54805	T	0.06	-11.259	19.9944	0.97379	0.0:1.0:0.0:0.0	.	698;655;783	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	F	710;783;655	ENSP00000264811:V710F;ENSP00000368966:V783F;ENSP00000426899:V655F	ENSP00000264811:V710F	V	-	1	0	TRPC3	123043573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.855000	0.62925	2.720000	0.93068	0.557000	0.71058	GTT		0.378	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		13	56	13	56	---	---	---	---
OFCC1	266553	broad.mit.edu	37	6	9908812	9908812	+	Silent	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr6:9908812A>G	ENST00000316020.6	-	5	485	c.486T>C	c.(484-486)ttT>ttC	p.F162F	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	94										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TCAGTGGGTCAAAGTAATTTC	0.393																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.(484-486)ttT>ttC		orofacial cleft 1 candidate 1							165.0	148.0	154.0					6																	9908812		2203	4300	6503	SO:0001819	synonymous_variant	266553							g.chr6:9908812A>G	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.486T>C	6.37:g.9908812A>G			Somatic				OFCC1_ENST00000472329.1_5'UTR	p.F162F			WXS	Illumina GAIIx	Phase_I					5	485	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Silent	SNP	ENST00000316020.6	37	c.486T>C		.	.	.	.	.	.	.	.	.	.	A	9.703	1.154977	0.21371	.	.	ENSG00000181355	ENST00000492169	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.7431	14.7065	0.69194	1.0:0.0:0.0:0.0	.	.	.	.	R	77	.	.	X	-	1	0	OFCC1	10016798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.792000	0.91856	2.207000	0.71202	0.533000	0.62120	TGA		0.393	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		22	69	22	69	---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30884980	30884980	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr6:30884980A>T	ENST00000321897.5	+	8	1484	c.852A>T	c.(850-852)agA>agT	p.R284S	VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	284					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGCTTTAAGATCAGCCATCT	0.537																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(850-852)agA>agT		valyl-tRNA synthetase 2, mitochondrial							192.0	189.0	190.0					6																	30884980		1511	2709	4220	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884980A>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.852A>T	6.37:g.30884980A>T	ENSP00000316092:p.Arg284Ser		Somatic				VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S	p.R284S			WXS	Illumina GAIIx	Phase_I	Q5ST30	SYVM_HUMAN			8	1484	+			284					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.852A>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172245	0.57584	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.81	-0.435	0.12279	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.526452	0.19656	N	0.109090	T	0.04048	0.0113	L	0.39633	1.23	0.29151	N	0.878393	B;P;B	0.36392	0.121;0.551;0.233	B;B;B	0.33454	0.122;0.164;0.098	T	0.30387	-0.9980	10	0.45353	T	0.12	-2.3768	0.8361	0.01140	0.3614:0.1726:0.2994:0.1666	.	284;314;284	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	S	284;284;144;284;314	ENSP00000316092:R284S;ENSP00000394802:R284S;ENSP00000438200:R144S;ENSP00000403749:R284S;ENSP00000441000:R314S	ENSP00000316092:R284S	R	+	3	2	VARS2	30992959	0.956000	0.32656	0.935000	0.37517	0.940000	0.58332	0.505000	0.22642	0.032000	0.15435	0.454000	0.30748	AGA		0.537	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		46	96	46	96	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113308118	113308118	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr8:113308118G>A	ENST00000297405.5	-	54	8802	c.8558C>T	c.(8557-8559)tCa>tTa	p.S2853L	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2853	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCTCACTGAAGAACCAAT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8557-8559)tCa>tTa		CUB and Sushi multiple domains 3							129.0	109.0	116.0					8																	113308118		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113308118G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8558C>T	8.37:g.113308118G>A	ENSP00000297405:p.Ser2853Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L	p.S2853L	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			54	8802	-			2853			Sushi 18.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8558C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831497	0.91036	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000006	D	0.83571	0.5283	M	0.90145	3.09	0.58432	D	0.999999	D;D;B	0.89917	0.995;1.0;0.095	D;D;B	0.91635	0.995;0.999;0.051	D	0.86450	0.1772	10	0.59425	D	0.04	.	18.9718	0.92718	0.0:0.0:1.0:0.0	.	2684;2853;2813	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2813;2853;2123;2684;2783	ENSP00000345799:S2813L;ENSP00000297405:S2853L;ENSP00000341558:S2123L;ENSP00000412263:S2684L;ENSP00000343124:S2783L	ENSP00000297405:S2853L	S	-	2	0	CSMD3	113377294	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	9.835000	0.99442	2.480000	0.83734	0.655000	0.94253	TCA		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	21	8	21	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49432198	49432198	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr12:49432198G>C	ENST00000301067.7	-	34	8940	c.8941C>G	c.(8941-8943)Ctg>Gtg	p.L2981V	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2981					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAGCTTCCAGGGCCAGAGGA	0.602																																						ENST00000301067.7																			0											c.(8941-8943)Ctg>Gtg		lysine (K)-specific methyltransferase 2D							66.0	69.0	68.0					12																	49432198		1976	4146	6122	SO:0001583	missense	8085							g.chr12:49432198G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8941C>G	12.37:g.49432198G>C	ENSP00000301067:p.Leu2981Val		Somatic					p.L2981V	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					34	8940	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8941C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840925	0.16891	.	.	ENSG00000167548	ENST00000301067	T	0.78364	-1.17	5.73	-1.46	0.08800	.	0.000000	0.30547	N	0.009389	T	0.66446	0.2790	N	0.22421	0.69	0.22424	N	0.999114	D	0.55172	0.97	P	0.48627	0.584	T	0.64837	-0.6313	10	0.87932	D	0	.	9.9359	0.41550	0.5629:0.0:0.4371:0.0	.	2981	O14686	MLL2_HUMAN	V	2981	ENSP00000301067:L2981V	ENSP00000301067:L2981V	L	-	1	2	MLL2	47718465	0.747000	0.28283	0.978000	0.43139	0.985000	0.73830	0.327000	0.19663	-0.217000	0.10033	-0.345000	0.07892	CTG		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	61	4	61	---	---	---	---
HOXC4	3221	broad.mit.edu	37	12	54448666	54448666	+	Missense_Mutation	SNP	C	C	T	rs200111255		TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr12:54448666C>T	ENST00000430889.2	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	HOXC4_ENST00000609810.1_Missense_Mutation_p.R158C|HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	158			R -> L (in dbSNP:rs11835301).		multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGAACCCAAGCGCTCGAGGAC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		12222	0.0		0.001	False		,,,				2504	0.0					ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(472-474)Cgc>Tgc		homeobox C4							36.0	38.0	38.0					12																	54448666		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448666C>T		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.472C>T	12.37:g.54448666C>T	ENSP00000399808:p.Arg158Cys		Somatic				HOXC4_ENST00000609810.1_Missense_Mutation_p.R158C|HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C	p.R158C	NM_153633.2	NP_705897.1	WXS	Illumina GAIIx	Phase_I	P09017	HXC4_HUMAN			2	518	+			158		R -> L (in dbSNP:rs11835301).				Missense_Mutation	SNP	ENST00000430889.2	37	c.472C>T	CCDS8873.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.84	2.950658	0.53186	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.97161	-4.27;-4.27	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98494	1.0611	10	0.87932	D	0	.	10.4796	0.44684	0.1948:0.8052:0.0:0.0	.	158	P09017	HXC4_HUMAN	C	158	ENSP00000305973:R158C;ENSP00000399808:R158C	ENSP00000305973:R158C	R	+	1	0	HOXC4	52734933	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.036000	0.49767	2.139000	0.66308	0.448000	0.29417	CGC		0.577	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			5	32	5	32	---	---	---	---
THSD4	79875	broad.mit.edu	37	15	71535425	71535425	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:71535425G>T	ENST00000355327.3	+	5	1036	c.902G>T	c.(901-903)tGc>tTc	p.C301F	THSD4_ENST00000261862.6_Missense_Mutation_p.C301F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	301	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACAAGCTGTGCAACACCAAC	0.542																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(901-903)tGc>tTc		thrombospondin, type I, domain containing 4							49.0	51.0	50.0					15																	71535425		2009	4192	6201	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71535425G>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.902G>T	15.37:g.71535425G>T	ENSP00000347484:p.Cys301Phe		Somatic				THSD4_ENST00000261862.6_Missense_Mutation_p.C301F	p.C301F			WXS	Illumina GAIIx	Phase_I	Q6ZMP0	THSD4_HUMAN			5	1036	+			301			TSP type-1 1.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.902G>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008982	0.75046	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.65916	-0.18;-0.18	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	L	0.40543	1.245	0.51233	D	0.99991	D	0.71674	0.998	D	0.78314	0.991	T	0.74830	-0.3531	10	0.87932	D	0	.	17.1495	0.86774	0.0:0.0:1.0:0.0	.	301	Q6ZMP0	THSD4_HUMAN	F	301	ENSP00000347484:C301F;ENSP00000261862:C301F	ENSP00000261862:C301F	C	+	2	0	THSD4	69322479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.594000	0.74104	2.721000	0.93114	0.655000	0.94253	TGC		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		10	39	10	39	---	---	---	---
ZFPM1	161882	broad.mit.edu	37	16	88598619	88598619	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr16:88598619G>A	ENST00000319555.3	+	7	1244	c.922G>A	c.(922-924)Gag>Aag	p.E308K	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	308					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCTCCCTGGAGATCCACAT	0.706																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(922-924)Gag>Aag		zinc finger protein, FOG family member 1							25.0	24.0	24.0					16																	88598619		2194	4295	6489	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88598619G>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.922G>A	16.37:g.88598619G>A	ENSP00000326630:p.Glu308Lys		Somatic					p.E308K	NM_153813.2	NP_722520.2	WXS	Illumina GAIIx	Phase_I	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	1244	+			308						Missense_Mutation	SNP	ENST00000319555.3	37	c.922G>A	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.160360	0.78226	.	.	ENSG00000179588	ENST00000319555	T	0.17054	2.3	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.288156	0.32357	U	0.006212	T	0.14098	0.0341	N	0.00514	-1.41	0.53005	D	0.999966	D	0.71674	0.998	D	0.77557	0.99	T	0.61133	-0.7124	10	0.42905	T	0.14	-7.1132	16.5461	0.84446	0.0:0.0:1.0:0.0	.	308	Q8IX07	FOG1_HUMAN	K	308	ENSP00000326630:E308K	ENSP00000326630:E308K	E	+	1	0	ZFPM1	87126120	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.267000	0.72546	2.152000	0.67230	0.299000	0.19835	GAG		0.706	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			12	31	12	31	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:47696425A>G	ENST00000393328.2	-	6	763	c.398T>C	c.(397-399)tTc>tCc	p.F133S	SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000504102.1_Missense_Mutation_p.F133S|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133S|SPOP_ENST00000393331.3_Missense_Mutation_p.F133S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tCc		speckle-type POZ protein							119.0	120.0	120.0					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>C	17.37:g.47696425A>G	ENSP00000377001:p.Phe133Ser	Prostate(2;0.17)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000393328.2_Missense_Mutation_p.F133S|SPOP_ENST00000504102.1_Missense_Mutation_p.F133S	p.F133S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527622	0.85706	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66622	-0.5877	10	0.44086	T	0.13	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	S	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133S;ENSP00000377004:F133S;ENSP00000240327:F133S;ENSP00000425905:F133S;ENSP00000420908:F133S;ENSP00000426986:F133S;ENSP00000420960:F133S;ENSP00000426262:F133S;ENSP00000424119:F133S	ENSP00000240327:F133S	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		43	95	43	95	---	---	---	---
APPBP2	10513	broad.mit.edu	37	17	58529353	58529353	+	Silent	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:58529353A>G	ENST00000083182.3	-	12	1679	c.1392T>C	c.(1390-1392)ggT>ggC	p.G464G		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	464					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATCTTCTTGACCAAGAAGTT	0.323																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(1390-1392)ggT>ggC		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							97.0	96.0	96.0					17																	58529353		2202	4298	6500	SO:0001819	synonymous_variant	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58529353A>G	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1392T>C	17.37:g.58529353A>G			Somatic					p.G464G	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	WXS	Illumina GAIIx	Phase_I	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		12	1679	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		464					A8K862|O95095|Q8WVC9	Silent	SNP	ENST00000083182.3	37	c.1392T>C	CCDS32699.1																																																																																				0.323	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		4	61	4	61	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61432335	61432335	+	Silent	SNP	C	C	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:61432335C>A	ENST00000424789.2	+	12	1948	c.1944C>A	c.(1942-1944)acC>acA	p.T648T	TANC2_ENST00000389520.4_Silent_p.T648T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	648					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATCTCAAGACCCTCAGTCAAG	0.398																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1942-1944)acC>acA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							164.0	155.0	158.0					17																	61432335		1894	4111	6005	SO:0001819	synonymous_variant	26115						binding	g.chr17:61432335C>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1944C>A	17.37:g.61432335C>A			Somatic				TANC2_ENST00000389520.4_Silent_p.T648T	p.T648T	NM_025185.3	NP_079461.2	WXS	Illumina GAIIx	Phase_I	Q9HCD6	TANC2_HUMAN			12	1948	+			648					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.1944C>A	CCDS45754.1																																																																																				0.398	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			33	110	33	110	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9453237	9453237	+	Silent	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:9453237A>G	ENST00000393883.2	+	6	1758	c.1110A>G	c.(1108-1110)gtA>gtG	p.V370V	CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATCTTACTGTACATATGAGAA	0.388																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(1108-1110)gtA>gtG		zinc finger protein 559							65.0	59.0	61.0					19																	9453237		2203	4300	6503	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453237A>G	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1110A>G	19.37:g.9453237A>G			Somatic				ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron	p.V370V	NM_001202412.1	NP_001189341.1	WXS	Illumina GAIIx	Phase_I	Q9BR84	ZN559_HUMAN			6	1758	+			370					K7EMG6	Silent	SNP	ENST00000393883.2	37	c.1110A>G	CCDS12211.1																																																																																				0.388	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		4	44	4	44	---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12501393	12501393	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:12501393T>C	ENST00000430385.3	-	4	2019	c.1819A>G	c.(1819-1821)Aaa>Gaa	p.K607E	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.K575E	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGAGTCTTTTTATGTCTATGC	0.398																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1723-1725)Aaa>Gaa		zinc finger protein 799							86.0	92.0	90.0					19																	12501393		2203	4298	6501	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501393T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1819A>G	19.37:g.12501393T>C	ENSP00000411084:p.Lys607Glu		Somatic				ZNF799_ENST00000430385.3_Missense_Mutation_p.K607E|CTD-3105H18.14_ENST00000435033.1_Intron	p.K575E			WXS	Illumina GAIIx	Phase_I	Q96GE5	ZN799_HUMAN			4	2472	-			607						Missense_Mutation	SNP	ENST00000430385.3	37	c.1723A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	0.547	-0.850887	0.02651	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07567	3.18;3.18	1.27	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	N	0.13098	0.295	0.09310	N	1	D	0.55605	0.972	P	0.55824	0.785	T	0.27262	-1.0079	9	0.27785	T	0.31	.	3.5817	0.07955	0.0:0.2847:0.204:0.5113	.	607	Q96GE5	ZN799_HUMAN	E	575;607	ENSP00000415278:K575E;ENSP00000411084:K607E	ENSP00000415278:K575E	K	-	1	0	ZNF799	12362393	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.598000	0.02087	-0.499000	0.06623	0.347000	0.21830	AAA		0.398	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		31	91	31	91	---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17311626	17311626	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:17311626C>A	ENST00000594824.1	+	26	4698	c.4551C>A	c.(4549-4551)ttC>ttA	p.F1517L	MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L|MYO9B_ENST00000595618.1_Missense_Mutation_p.F1517L			Q13459	MYO9B_HUMAN	myosin IXB	1517	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGACGAGTTCCTGCTCAACA	0.552																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4549-4551)ttC>ttA		myosin IXB							122.0	126.0	125.0					19																	17311626		2060	4185	6245	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311626C>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4551C>A	19.37:g.17311626C>A	ENSP00000471367:p.Phe1517Leu		Somatic				MYO9B_ENST00000594824.1_Missense_Mutation_p.F1517L|MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L	p.F1517L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	WXS	Illumina GAIIx	Phase_I	Q13459	MYO9B_HUMAN			26	4703	+			1517			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4551C>A		.	.	.	.	.	.	.	.	.	.	C	14.42	2.530528	0.45073	.	.	ENSG00000099331	ENST00000397274	D	0.91577	-2.87	4.68	1.29	0.21616	.	0.000000	0.56097	D	0.000023	D	0.88786	0.6531	M	0.78456	2.415	0.45490	D	0.998451	B;B;B;B	0.16802	0.019;0.015;0.019;0.009	B;B;B;B	0.19391	0.014;0.025;0.014;0.011	T	0.82952	-0.0202	10	0.72032	D	0.01	.	9.02	0.36193	0.0:0.7527:0.0:0.2473	.	1517;1517;1517;1523	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	L	1517	ENSP00000380444:F1517L	ENSP00000380444:F1517L	F	+	3	2	MYO9B	17172626	0.998000	0.40836	0.999000	0.59377	0.782000	0.44232	0.517000	0.22832	0.074000	0.16767	0.436000	0.28706	TTC		0.552	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			20	53	20	53	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47570989	47570989	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:47570989C>A	ENST00000253048.5	-	15	2573	c.2536G>T	c.(2536-2538)Gac>Tac	p.D846Y	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	846							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGCGGGGGTCCCCCAGCCCA	0.682																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2536-2538)Gac>Tac		zinc finger CCCH-type containing 4							12.0	14.0	14.0					19																	47570989		1922	4112	6034	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570989C>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2536G>T	19.37:g.47570989C>A	ENSP00000253048:p.Asp846Tyr		Somatic				ZC3H4_ENST00000594019.1_Intron	p.D846Y	NM_015168.1	NP_055983.1	WXS	Illumina GAIIx	Phase_I	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2573	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	846					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2536G>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807774	0.70797	.	.	ENSG00000130749	ENST00000253048	T	0.46451	0.87	5.28	5.28	0.74379	.	0.218384	0.27971	N	0.017107	T	0.63248	0.2495	M	0.64404	1.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.65425	-0.6171	10	0.87932	D	0	.	18.0536	0.89357	0.0:1.0:0.0:0.0	.	846	Q9UPT8	ZC3H4_HUMAN	Y	846	ENSP00000253048:D846Y	ENSP00000253048:D846Y	D	-	1	0	ZC3H4	52262829	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.306000	0.65756	2.642000	0.89623	0.655000	0.94253	GAC		0.682	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			6	13	6	13	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30416351	30416351	+	Silent	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr22:30416351G>A	ENST00000401950.2	+	17	3045	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	MTMR3_ENST00000323630.5_Silent_p.R765R|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.R901R|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.R901R|MTMR3_ENST00000406629.1_Silent_p.R901R	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	901					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGTGCATAGGACTTCCCTTG	0.562																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2701-2703)agG>agA		myotubularin related protein 3							85.0	83.0	84.0					22																	30416351		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416351G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2703G>A	22.37:g.30416351G>A			Somatic				CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.R901R|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.R901R|MTMR3_ENST00000323630.5_Silent_p.R765R|MTMR3_ENST00000406629.1_Silent_p.R901R	p.R901R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3031	+			901					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.2703G>A	CCDS13870.1																																																																																				0.562	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		17	51	17	51	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39907713	39907717	+	Frame_Shift_Del	DEL	AAATG	AAATG	-			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:39907713_39907717delAAATG	ENST00000372915.3	+	74	18546_18550	c.18459_18463delAAATG	c.(18457-18465)ttaaatgaafs	p.NE6154fs	MACF1_ENST00000539005.1_Frame_Shift_Del_p.NE4066fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.NE4698fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.NE6292fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.NE6255fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6154					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGATCAGTTAAATGAAATGAAGGT	0.356																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18760-18768)ttaaatgaafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39907713_39907717delAAATG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18459_18463delAAATG	1.37:g.39907718_39907722delAAATG	ENSP00000362006:p.Asn6154fs		Somatic				MACF1_ENST00000372915.3_Frame_Shift_Del_p.NE6154fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.NE4066fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.NE6292fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.NE4698fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.NE4196fs	p.NE6255fs			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		75	19539_19543	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6264					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.18762_18766delAAATG																																																																																					0.356	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	64	14	64	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98205472	98205473	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr5:98205472_98205473insAT	ENST00000284049.3	-	29	4241_4242	c.4092_4093insAT	c.(4090-4095)gatgaafs	p.E1365fs	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1365					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATCATCTTCATCAGACTTCT	0.317																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4090-4095)gatgaafs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)																																			SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98205472_98205473insAT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4091_4092dupAT	5.37:g.98205473_98205474dupAT	ENSP00000284049:p.Glu1365fs		Somatic				CHD1_ENST00000511067.1_5'UTR	p.E1365fs	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	29	4241_4242	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1365					Q17RZ3	Frame_Shift_Ins	INS	ENST00000284049.3	37	c.4092_4093insAT	CCDS34204.1																																																																																				0.317	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		18	22	18	22	---	---	---	---
