#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MYH3	4621	broad.mit.edu	37	17	10537355	10537355	+	Missense_Mutation	SNP	G	G	C	rs551438676		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr17:10537355G>C	ENST00000583535.1	-	32	4588	c.4501C>G	c.(4501-4503)Cgg>Ggg	p.R1501G	MYH3_ENST00000226209.7_Missense_Mutation_p.R1501G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1501					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTATTTTCCCGTTTCACAGTT	0.493																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(4501-4503)Cgg>Ggg		myosin, heavy chain 3, skeletal muscle, embryonic							181.0	155.0	164.0					17																	10537355		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10537355G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4501C>G	17.37:g.10537355G>C	ENSP00000464317:p.Arg1501Gly					MYH3_ENST00000226209.7_Missense_Mutation_p.R1501G	p.R1501G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			32	4588	-			1501					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4501C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896772	0.72639	.	.	ENSG00000109063	ENST00000226209	D	0.83914	-1.78	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.94588	0.8256	H	0.96943	3.91	0.41066	D	0.985411	D	0.89917	1.0	D	0.97110	1.0	D	0.96268	0.9196	9	0.87932	D	0	.	19.3282	0.94273	0.0:0.0:1.0:0.0	.	1501	P11055	MYH3_HUMAN	G	1501	ENSP00000226209:R1501G	ENSP00000226209:R1501G	R	-	1	2	MYH3	10478080	0.925000	0.31364	1.000000	0.80357	0.998000	0.95712	1.395000	0.34520	2.623000	0.88846	0.655000	0.94253	CGG		0.493	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		10	89	0	0	0	1	0	10	89				
AMER2	219287	broad.mit.edu	37	13	25744194	25744194	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr13:25744194C>T	ENST00000515384.1	-	1	2231	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.E403K|AMER2_ENST00000357816.2_Missense_Mutation_p.E403K			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	522					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E522*(1)|p.E403*(1)									CAGTAGCCCTCGTCGCTGTTG	0.662																																						ENST00000357816.2																			2	Substitution - Nonsense(2)	p.E522*(1)|p.E403*(1)	lung(2)								c.(1207-1209)Gag>Aag		APC membrane recruitment protein 2							68.0	64.0	65.0					13																	25744194		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744194C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1564G>A	13.37:g.25744194C>T	ENSP00000426528:p.Glu522Lys					AMER2_ENST00000515384.1_Missense_Mutation_p.E522K|AMER2_ENST00000381853.3_Missense_Mutation_p.E403K	p.E403K							3	1682	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1207G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107481	0.77096	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.47528	0.84;0.84;0.84	4.98	1.14	0.20703	.	0.173505	0.49916	N	0.000131	T	0.38295	0.1035	L	0.55743	1.74	0.49582	D	0.999803	P;P	0.47841	0.901;0.719	B;B	0.38755	0.281;0.109	T	0.23119	-1.0197	10	0.59425	D	0.04	-6.7672	10.0393	0.42148	0.0:0.5344:0.3925:0.073	.	522;403	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	K	403;403;522	ENSP00000350469:E403K;ENSP00000371277:E403K;ENSP00000426528:E522K	ENSP00000350469:E403K	E	-	1	0	FAM123A	24642194	0.980000	0.34600	0.938000	0.37757	0.991000	0.79684	2.482000	0.45224	-0.001000	0.14495	0.561000	0.74099	GAG		0.662	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		7	59	0	0	0	1	0	7	59				
CRIPAK	285464	broad.mit.edu	37	4	1389240	1389240	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr4:1389240G>A	ENST00000324803.4	+	1	3901	c.941G>A	c.(940-942)cGt>cAt	p.R314H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	314					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCTCACGTGCCCATATG	0.662																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(940-942)cGt>cAt		cysteine-rich PAK1 inhibitor							169.0	171.0	170.0					4																	1389240		2202	4299	6501	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389240G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.941G>A	4.37:g.1389240G>A	ENSP00000323978:p.Arg314His						p.R314H	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3901	+			314					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.941G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	A	9.936	1.216238	0.22373	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.20332	2.08	0.815	-1.63	0.08345	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	9	0.49607	T	0.09	.	6.5735	0.22551	0.5269:0.0:0.4731:0.0	.	314	Q8N1N5	CRPAK_HUMAN	H	314;256	ENSP00000323978:R314H	ENSP00000323978:R314H	R	+	2	0	CRIPAK	1379240	0.086000	0.21541	0.000000	0.03702	0.002000	0.02628	0.025000	0.13577	-1.906000	0.01089	-2.143000	0.00337	CGT		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		12	182	0	0	0	1	0	12	182				
ZNF471	57573	broad.mit.edu	37	19	57037154	57037154	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr19:57037154G>A	ENST00000308031.5	+	5	1851	c.1718G>A	c.(1717-1719)tGt>tAt	p.C573Y	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CCCTATAAATGTACTGAATGT	0.423																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1717-1719)tGt>tAt		zinc finger protein 471							72.0	71.0	71.0					19																	57037154		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037154G>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1718G>A	19.37:g.57037154G>A	ENSP00000309161:p.Cys573Tyr					ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	p.C573Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1851	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	573					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1718G>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984739	0.53934	.	.	ENSG00000196263	ENST00000308031	D	0.85088	-1.94	3.9	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93635	0.7967	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93514	0.6855	9	0.72032	D	0.01	.	10.2035	0.43099	0.1013:0.0:0.8987:0.0	.	573	Q9BX82	ZN471_HUMAN	Y	573	ENSP00000309161:C573Y	ENSP00000309161:C573Y	C	+	2	0	ZNF471	61728966	1.000000	0.71417	0.493000	0.27502	0.927000	0.56198	3.665000	0.54532	0.846000	0.35142	0.462000	0.41574	TGT		0.423	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		8	39	0	0	0	1	0	8	39				
PKHD1L1	93035	broad.mit.edu	37	8	110457177	110457177	+	Silent	SNP	C	C	T			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr8:110457177C>T	ENST00000378402.5	+	38	5183	c.5079C>T	c.(5077-5079)gtC>gtT	p.V1693V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1693	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTAAAAGTCCTTATGGGTC	0.443										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5077-5079)gtC>gtT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							149.0	144.0	145.0					8																	110457177		1873	4109	5982	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457177C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5079C>T	8.37:g.110457177C>T		HNSCC(38;0.096)					p.V1693V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5183	+			1693			IPT/TIG 9.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.5079C>T	CCDS47911.1																																																																																				0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		47	60	0	0	0	1	0	47	60				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		5	36	1	0	1.23904e-05	1	1.34678e-05	5	36				
METTL21C	196541	broad.mit.edu	37	13	103343216	103343216	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr13:103343216C>T	ENST00000267273.6	-	2	234	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	77					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGACAATCTCCTTTCCTGCA	0.453																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(229-231)Gag>Aag		methyltransferase like 21C							177.0	150.0	159.0					13																	103343216		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103343216C>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.229G>A	13.37:g.103343216C>T	ENSP00000267273:p.Glu77Lys						p.E77K	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			2	234	-			77						Missense_Mutation	SNP	ENST00000267273.6	37	c.229G>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086576	0.20390	.	.	ENSG00000139780	ENST00000267273	T	0.14516	2.5	6.16	3.76	0.43208	.	0.629443	0.18377	N	0.143063	T	0.05502	0.0145	N	0.04805	-0.155	0.25965	N	0.982573	B	0.02656	0.0	B	0.04013	0.001	T	0.41052	-0.9530	10	0.17369	T	0.5	-0.0346	5.3709	0.16138	0.0:0.1693:0.2475:0.5831	.	77	Q5VZV1	MT21C_HUMAN	K	77	ENSP00000267273:E77K	ENSP00000267273:E77K	E	-	1	0	METTL21C	102141217	0.850000	0.29656	0.954000	0.39281	0.863000	0.49368	1.201000	0.32259	0.553000	0.29044	-0.312000	0.09012	GAG		0.453	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		7	41	0	0	0	1	0	7	41				
SREBF2	6721	broad.mit.edu	37	22	42273265	42273265	+	Silent	SNP	G	G	A	rs143287516		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr22:42273265G>A	ENST00000361204.4	+	8	1585	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	473	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCCTGTGGCGCTGGGCATGG	0.512																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1417-1419)gcG>gcA		sterol regulatory element binding transcription factor 2		G		1,4405	2.1+/-5.4	0,1,2202	121.0	117.0	118.0		1419	-12.1	0.3	22	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	SREBF2	NM_004599.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		473/1142	42273265	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42273265G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1419G>A	22.37:g.42273265G>A							p.A473A	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			8	1585	+			473			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	c.1419G>A	CCDS14023.1																																																																																				0.512	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		6	67	0	0	0	1	0	6	67				
TRBV7-1	28597	broad.mit.edu	37	7	142032456	142032456	+	RNA	SNP	C	C	T			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr7:142032456C>T	ENST00000547918.2	+	0	309									T cell receptor beta variable 7-1 (non-functional)																		CTGAGGGATCCATCTCCACTC	0.567																																						ENST00000547918.2																			0																																																			28597							g.chr7:142032456C>T	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032456C>T														0	309	+									RNA	SNP	ENST00000547918.2	37																																																																																						0.567	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		13	9	0	0	0	1	0	13	9				
DYNC2H1	79659	broad.mit.edu	37	11	103027115	103027115	+	Splice_Site	SNP	A	A	G			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr11:103027115A>G	ENST00000375735.2	+	26	3888		c.e26-1		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTGTTAAATAGGATTTAAAT	0.279																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.e26-1		dynein, cytoplasmic 2, heavy chain 1							28.0	28.0	28.0					11																	103027115		1812	4062	5874	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027115A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3745-1A>G	11.37:g.103027115A>G						DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron		NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	3888	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)						O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37		CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093054	0.76756	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1907	0.73041	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC2H1	102532325	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.690000	0.91272	2.001000	0.58596	0.460000	0.39030	.		0.279	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Intron	6	10	0	0	0	1	0	6	10				
KIF13B	23303	broad.mit.edu	37	8	28928038	28928038	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr8:28928038T>G	ENST00000524189.1	-	40	5502	c.5464A>C	c.(5464-5466)Aaa>Caa	p.K1822Q	CTD-2647L4.5_ENST00000560714.1_RNA|KIF13B_ENST00000404075.3_Missense_Mutation_p.K341Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1822					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCCCAGGATTTCCGGTTCTCA	0.682																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(5464-5466)Aaa>Caa		kinesin family member 13B							16.0	20.0	19.0					8																	28928038		1972	4145	6117	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28928038T>G	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.5464A>C	8.37:g.28928038T>G	ENSP00000427900:p.Lys1822Gln					KIF13B_ENST00000404075.3_Missense_Mutation_p.K341Q	p.K1822Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	40	5502	-		Ovarian(32;0.000536)	1822					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.5464A>C	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.805009	0.90623	.	.	ENSG00000197892	ENST00000524189;ENST00000523130;ENST00000404075	D;D;D	0.87029	-1.56;-2.2;-2.12	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90449	0.4437	10	0.66056	D	0.02	.	14.2199	0.65820	0.0:0.0:0.0:1.0	.	341;1822	B4DGY5;F8VPJ2	.;.	Q	1822;414;341	ENSP00000427900:K1822Q;ENSP00000429106:K414Q;ENSP00000384054:K341Q	ENSP00000384054:K341Q	K	-	1	0	KIF13B	28983957	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.205000	0.77881	1.960000	0.56953	0.459000	0.35465	AAA		0.682	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			3	14	0	0	0	1	0	3	14				
AGAP10	728127	broad.mit.edu	37	10	47207828	47207828	+	Missense_Mutation	SNP	C	C	A	rs587691689	byFrequency	TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr10:47207828C>A	ENST00000452145.2	-	4	491	c.380G>T	c.(379-381)aGc>aTc	p.S127I	AGAP10_ENST00000355232.3_Missense_Mutation_p.S152I|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	127					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S223I(4)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TGTACAGTTGCTTCTTCTTAT	0.264													c|||	4	0.000798722	0.0	0.0	5008	,	,		10150	0.0		0.0	False		,,,				2504	0.0041					ENST00000355232.3																			4	Substitution - Missense(4)	p.S223I(4)	lung(2)|kidney(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.(454-456)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001583	missense	728127							g.chr10:47207828C>A	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.380G>T	10.37:g.47207828C>A	ENSP00000392206:p.Ser127Ile					RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I	p.S152I							5	3467	-									Missense_Mutation	SNP	ENST00000452145.2	37	c.455G>T		.	.	.	.	.	.	.	.	.	.	c	8.454	0.853638	0.17106	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;D;D	0.88818	-2.37;-2.43;-2.37	1.4	1.4	0.22301	.	0.201708	0.42821	D	0.000652	T	0.81009	0.4734	.	.	.	0.20873	N	0.999835	B	0.30068	0.267	B	0.22386	0.039	T	0.74725	-0.3568	9	0.87932	D	0	.	8.772	0.34737	0.0:1.0:0.0:0.0	.	127	Q5T2P9	AGA10_HUMAN	I	127;223;152	ENSP00000392206:S127I;ENSP00000407436:S223I;ENSP00000347372:S152I	ENSP00000347372:S152I	S	-	2	0	AGAP10	46627834	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	1.432000	0.34936	1.086000	0.41228	0.194000	0.17425	AGC		0.264	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2		3	34	1	0	0.00024832	1	0.000258667	3	34				
MST1L	11223	broad.mit.edu	37	1	17085006	17085006	+	RNA	SNP	C	C	T	rs201784242	byFrequency	TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr1:17085006C>T	ENST00000455405.2	-	0	182							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CGGATGGCCCCCAGCCACGCG	0.607																																						ENST00000455405.2																			0																																																			11223							g.chr1:17085006C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085006C>T														0	182	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	11.84	1.758278	0.31137	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.000000	0.42964	D	0.000638	T	0.62636	0.2444	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.65524	-0.6147	6	0.35671	T	0.21	.	6.8326	0.23919	0.0:0.9999:0.0:1.0E-4	.	490;490	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	E	459;490;490	.	ENSP00000439273:G490E	G	-	2	0	MST1P9	16957593	0.982000	0.34865	0.000000	0.03702	0.000000	0.00434	2.313000	0.43735	-0.000000	0.14550	0.000000	0.15137	GGG		0.607	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	52	0	0	0	1	0	5	52				
FAM111B	374393	broad.mit.edu	37	11	58877137	58877137	+	Silent	SNP	C	C	T	rs138558402		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr11:58877137C>T	ENST00000343597.3	+	3	230	c.39C>T	c.(37-39)agC>agT	p.S13S	FAM111B_ENST00000529618.1_Intron|FAM111B_ENST00000411426.1_Intron	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	13							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGTCATTTAGCGCTATGGAAG	0.368													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20931	0.0		0.0	False		,,,				2504	0.0					ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(37-39)agC>agT		family with sequence similarity 111, member B		C	,,	0,4402		0,0,2201	110.0	98.0	102.0		,,39	-1.1	0.0	11	dbSNP_134	102	1,8589	1.2+/-3.3	0,1,4294	no	intron,intron,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,	,,13/735	58877137	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58877137C>T	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.39C>T	11.37:g.58877137C>T						FAM111B_ENST00000411426.1_Intron|FAM111B_ENST00000529618.1_Intron	p.S13S	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			3	230	+			13					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.39C>T	CCDS7972.1																																																																																				0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		3	27	0	0	0	1	0	3	27				
ZNF608	57507	broad.mit.edu	37	5	123982608	123982608	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr5:123982608G>A	ENST00000306315.5	-	4	3904	c.3469C>T	c.(3469-3471)Ccc>Tcc	p.P1157S	ZNF608_ENST00000504926.1_Missense_Mutation_p.P730S|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1157							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGAGTAGAGGGAGCTTTTGAG	0.463																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3469-3471)Ccc>Tcc		zinc finger protein 608							122.0	119.0	120.0					5																	123982608		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123982608G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3469C>T	5.37:g.123982608G>A	ENSP00000307746:p.Pro1157Ser					ZNF608_ENST00000504926.1_Missense_Mutation_p.P730S	p.P1157S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3904	-		all_cancers(142;0.186)|Prostate(80;0.081)	1157					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3469C>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318628	0.60524	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.60299	0.2;0.37	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.73217	2.22	0.47584	D	0.999469	P	0.42518	0.782	B	0.38712	0.28	T	0.66716	-0.5853	10	0.62326	D	0.03	-19.0094	20.2015	0.98260	0.0:0.0:1.0:0.0	.	1157	Q9ULD9	ZN608_HUMAN	S	730;1157	ENSP00000427657:P730S;ENSP00000307746:P1157S	ENSP00000307746:P1157S	P	-	1	0	ZNF608	124010507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.345000	0.79337	2.773000	0.95371	0.643000	0.83706	CCC		0.463	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		22	69	0	0	0	1	0	22	69				
SLFNL1	200172	broad.mit.edu	37	1	41483806	41483808	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr1:41483806_41483808delTCC	ENST00000359345.1	-	2	3032_3034	c.456_458delGGA	c.(454-459)gaggac>gac	p.E152del	SLFNL1_ENST00000439569.2_In_Frame_Del_p.E152del|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000397197.2_In_Frame_Del_p.E152del|SLFNL1_ENST00000302946.8_In_Frame_Del_p.E152del|SLFNL1_ENST00000372613.2_In_Frame_Del_p.E152del	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	152							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGGCCACTGtcctcctcctcct	0.626																																						ENST00000359345.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(454-459)gac>ga		schlafen-like 1			,	18,3544		1,16,1764					,	2.0	0.1			5	72,7008		4,64,3472	no	coding,coding	SLFNL1	NM_144990.3,NM_001168247.1	,	5,80,5236	A1A1,A1R,RR		1.0169,0.5053,0.8457	,	,		90,10552				SO:0001651	inframe_deletion	200172						ATP binding	g.chr1:41483806_41483808delTCC	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.456_458delGGA	1.37:g.41483815_41483817delTCC	ENSP00000352299:p.Glu152del					SLFNL1_ENST00000302946.8_In_Frame_Del_p.ED152del|SLFNL1_ENST00000439569.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000397197.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000372613.2_In_Frame_Del_p.ED152del	p.ED152del	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			2	3032_3034	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	152					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	In_Frame_Del	DEL	ENST00000359345.1	37	c.456_458delGGA	CCDS460.1																																																																																				0.626	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		2	4						2	4	---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69741805	69741807	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr2:69741805_69741807delTGT	ENST00000409085.4	-	13	1948_1950	c.1572_1574delACA	c.(1570-1575)caacag>cag	p.524_525QQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.524_525QQ>Q|RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000406297.3_In_Frame_Del_p.524_525QQ>Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	524	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CATTAGCTGCTGTTGAGAGCCTC	0.502																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(1570-1575)cag>ca		AP2 associated kinase 1																																				SO:0001651	inframe_deletion	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69741805_69741807delTGT	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1572_1574delACA	2.37:g.69741805_69741807delTGT	ENSP00000386456:p.Gln526del					AAK1_ENST00000409068.1_In_Frame_Del_p.QQ524del|AAK1_ENST00000406297.3_In_Frame_Del_p.QQ524del	p.QQ524del	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			13	1948_1950	-			524			Gln-rich.		Q4ZFZ3|Q53RX6|Q9UPV4	In_Frame_Del	DEL	ENST00000409085.4	37	c.1572_1574delACA	CCDS1893.2																																																																																				0.502	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		12	8						12	8	---	---	---	---
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1					P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709																																						ENST00000339303.5																			0											c.e1+1		nuclear pore complex interacting protein family, member A8																																				SO:0001630	splice_region_variant	101059953							g.chr16:18441114_18441116delCAC		CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.4043+1GTG>-	16.37:g.18441117_18441119delCAC														1	15	-									Splice_Site	DEL	ENST00000339303.5	37																																																																																						0.709	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	4	2						4	2	---	---	---	---
ZNF720	124411	broad.mit.edu	37	16	31766972	31766972	+	Intron	DEL	G	G	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr16:31766972delG	ENST00000316491.9	+	4	560				ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000399681.3_Frame_Shift_Del_p.G454fs|ZNF720_ENST00000539915.1_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						TAAAGAATGTGGCAAATTATT	0.338																																						ENST00000399681.3																			0				endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						c.(1360-1362)gcfs		zinc finger protein 720																																				SO:0001627	intron_variant	124411				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:31766972delG	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+1751G>-	16.37:g.31766972delG						ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000316491.9_Intron	p.G454fs			Q7Z2F6	ZN720_HUMAN			6	1839	+			0					Q6ZQX1	Frame_Shift_Del	DEL	ENST00000316491.9	37	c.1360delG	CCDS45473.1																																																																																				0.338	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	NM_001004300		2	4						2	4	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58589235	58589236	+	Frame_Shift_Del	DEL	AT	AT	-	rs145768046		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr16:58589235_58589236delAT	ENST00000317147.5	-	21	3142_3143	c.2810_2811delAT	c.(2809-2811)tatfs	p.Y937fs	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.Y937fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.Y932fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	937	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTTCAAGAACATATCGTAGAGC	0.401																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2809-2811)tfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589235_58589236delAT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2810_2811delAT	16.37:g.58589237_58589238delAT	ENSP00000320949:p.Tyr937fs					CNOT1_ENST00000569240.1_Frame_Shift_Del_p.Y932fs|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.Y937fs|CNOT1_ENST00000569732.1_5'UTR	p.Y937fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3142_3143	-			937					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.2810_2811delAT	CCDS10799.1																																																																																				0.401	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		56	79						56	79	---	---	---	---
PLIN5	440503	broad.mit.edu	37	19	4525016	4525016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr19:4525016delC	ENST00000381848.3	-	7	873	c.793delG	c.(793-795)gaafs	p.E265fs		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	265	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TGGCCCCATTCCCCCCACAGC	0.682																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(793-795)aafs		perilipin 5							4.0	6.0	5.0					19																	4525016		1912	3951	5863	SO:0001589	frameshift_variant	440503					lipid particle		g.chr19:4525016delC	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.793delG	19.37:g.4525016delC	ENSP00000371272:p.Glu265fs						p.E265fs	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			7	873	-			265					A2RRC1|Q6ZS68	Frame_Shift_Del	DEL	ENST00000381848.3	37	c.793delG	CCDS42473.1																																																																																				0.682	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		2	4						2	4	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39933743	39933743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chrX:39933743delT	ENST00000378444.4	-	4	1084	c.856delA	c.(856-858)agcfs	p.S286fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.S286fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.S286fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S286fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	286					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CACGGGAGGCTTTTGTCTGCG	0.607			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(856-858)gcfs		BCL6 corepressor							27.0	22.0	23.0					X																	39933743		2202	4299	6501	SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933743delT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.856delA	X.37:g.39933743delT	ENSP00000367705:p.Ser286fs					BCOR_ENST00000378444.4_Frame_Shift_Del_p.S286fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.S286fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S286fs	p.S286fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1218	-			286					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.856delA	CCDS48093.1																																																																																				0.607	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		2	4						2	4	---	---	---	---
UBL4A	8266	broad.mit.edu	37	X	153714628	153714628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chrX:153714628delG	ENST00000369660.4	-	2	178	c.93delC	c.(91-93)tccfs	p.S31fs	UBL4A_ENST00000369653.4_Frame_Shift_Del_p.S31fs|UBL4A_ENST00000477777.1_5'Flank	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	31	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCTTCTCGGAGACCAGCT	0.701																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	ENST00000369660.4																			0				endometrium(5)|lung(1)|urinary_tract(1)	7						c.(91-93)tcfs		ubiquitin-like 4A							13.0	9.0	11.0					X																	153714628		2149	4203	6352	SO:0001589	frameshift_variant	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153714628delG	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.93delC	X.37:g.153714628delG	ENSP00000358674:p.Ser31fs					UBL4A_ENST00000369653.4_Frame_Shift_Del_p.S31fs	p.S31fs	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN			2	178	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		31			Ubiquitin-like.		Q5HY80	Frame_Shift_Del	DEL	ENST00000369660.4	37	c.93delC	CCDS14754.1																																																																																				0.701	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		2	4						2	4	---	---	---	---
