#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
PRKDC	5591	broad.mit.edu	37	8	48690415	48690415	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr8:48690415C>A	ENST00000314191.2	-	85	11927	c.11871G>T	c.(11869-11871)ttG>ttT	p.L3957F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L3926F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3958	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAAAAGGCATCAACTCAGGGA	0.468								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11869-11871)ttG>ttT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							73.0	73.0	73.0					8																	48690415		1983	4169	6152	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48690415C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11871G>T	8.37:g.48690415C>A	ENSP00000313420:p.Leu3957Phe					PRKDC_ENST00000338368.3_Missense_Mutation_p.L3926F|PRKDC_ENST00000523565.1_5'UTR	p.L3957F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			85	11927	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3958			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11871G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.016119|4.016119	0.75161|0.75161	.|.	.|.	ENSG00000253729|ENSG00000253729	ENST00000536429|ENST00000314191;ENST00000338368	.|T;T	.|0.77620	.|-1.11;-1.11	5.58|5.58	3.77|3.77	0.43336|0.43336	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.89880|0.89880	0.6843|0.6843	M|M	0.93763|0.93763	3.455|3.455	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.90363|0.90363	0.4375|0.4375	5|10	.|0.66056	.|D	.|0.02	.|.	11.2422|11.2422	0.48977|0.48977	0.0:0.8034:0.1279:0.0687|0.0:0.8034:0.1279:0.0687	.|.	.|3926;3958	.|E7EUY0;P78527	.|.;PRKDC_HUMAN	Y|F	34|3957;3926	.|ENSP00000313420:L3957F;ENSP00000345182:L3926F	.|ENSP00000313420:L3957F	D|L	-|-	1|3	0|2	PRKDC|PRKDC	48852968|48852968	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.834000|0.834000	0.47266|0.47266	2.450000|2.450000	0.44943|0.44943	0.700000|0.700000	0.31782|0.31782	0.655000|0.655000	0.94253|0.94253	GAT|TTG		0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	14	1	0	0.27861	1	0.28614	7	14				
GLCE	26035	broad.mit.edu	37	15	69553493	69553493	+	Silent	SNP	A	A	T			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr15:69553493A>T	ENST00000261858.2	+	4	882	c.654A>T	c.(652-654)ggA>ggT	p.G218G	GLCE_ENST00000559420.2_Silent_p.G154G|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	218					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CACAGTATGGATTAAGTCATT	0.373																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(652-654)ggA>ggT		glucuronic acid epimerase							120.0	110.0	113.0					15																	69553493		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69553493A>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.654A>T	15.37:g.69553493A>T						GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Silent_p.G154G	p.G218G	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			4	882	+			218					Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.654A>T	CCDS32277.1																																																																																				0.373	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		17	78	0	0	0	1	0	17	78				
INPPL1	3636	broad.mit.edu	37	11	71946489	71946489	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr11:71946489C>T	ENST00000298229.2	+	23	2857	c.2653C>T	c.(2653-2655)Ctc>Ttc	p.L885F	INPPL1_ENST00000538751.1_Missense_Mutation_p.L643F|INPPL1_ENST00000541756.1_Missense_Mutation_p.L643F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	885					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCGTGAGCGGCTCTACGGTGG	0.617																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1927-1929)Ctc>Ttc		inositol polyphosphate phosphatase-like 1							60.0	72.0	68.0					11																	71946489		2200	4290	6490	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71946489C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2653C>T	11.37:g.71946489C>T	ENSP00000298229:p.Leu885Phe					INPPL1_ENST00000538751.1_Missense_Mutation_p.L643F|INPPL1_ENST00000298229.2_Missense_Mutation_p.L885F	p.L643F			O15357	SHIP2_HUMAN			23	2857	+			885					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1927C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	27.8	4.868400	0.91587	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.35421	1.31;1.31;1.31	5.5	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.46464	0.1394	L	0.55990	1.75	0.49798	D	0.999821	D	0.60160	0.987	P	0.53912	0.737	T	0.46148	-0.9212	10	0.56958	D	0.05	.	13.1668	0.59575	0.0:0.9223:0.0:0.0777	.	885	O15357	SHIP2_HUMAN	F	885;643;643	ENSP00000298229:L885F;ENSP00000446360:L643F;ENSP00000444619:L643F	ENSP00000298229:L885F	L	+	1	0	INPPL1	71624137	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.493000	0.60341	1.307000	0.44944	0.655000	0.94253	CTC		0.617	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		17	96	0	0	0	1	0	17	96				
PQLC2	54896	broad.mit.edu	37	1	19653727	19653727	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr1:19653727C>T	ENST00000375153.3	+	7	1265	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	PQLC2_ENST00000400548.2_Missense_Mutation_p.R144W|PQLC2_ENST00000375155.3_Missense_Mutation_p.R209W	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	209	PQ-loop 2.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGTTCCTCCGGAAGTCCAC	0.597																																						ENST00000375153.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(625-627)Cgg>Tgg		PQ loop repeat containing 2							64.0	63.0	64.0					1																	19653727		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19653727C>T	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.625C>T	1.37:g.19653727C>T	ENSP00000364295:p.Arg209Trp					PQLC2_ENST00000400548.2_Missense_Mutation_p.R144W|PQLC2_ENST00000375155.3_Missense_Mutation_p.R209W	p.R209W	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	1265	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	209			PQ-loop 2.		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.625C>T	CCDS195.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936925	0.52972	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548	D;D;D	0.98876	-5.2;-5.2;-5.2	5.16	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	H	0.95611	3.695	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99066	1.0832	10	0.87932	D	0	-15.7328	10.9793	0.47483	0.604:0.396:0.0:0.0	.	209	Q6ZP29	PQLC2_HUMAN	W	209;209;144	ENSP00000364297:R209W;ENSP00000364295:R209W;ENSP00000383395:R144W	ENSP00000364295:R209W	R	+	1	2	PQLC2	19526314	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	2.321000	0.43805	1.135000	0.42183	0.484000	0.47621	CGG		0.597	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		7	49	0	0	0	1	0	7	49				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	40	0	0	0	1	0	5	40				
MACF1	23499	broad.mit.edu	37	1	39781228	39781228	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr1:39781228C>T	ENST00000372915.3	+	26	3416	c.3329C>T	c.(3328-3330)gCa>gTa	p.A1110V	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.A1142V|MACF1_ENST00000564288.1_Missense_Mutation_p.A1105V|MACF1_ENST00000545844.1_Missense_Mutation_p.A1110V|MACF1_ENST00000361689.2_Missense_Mutation_p.A1110V|MACF1_ENST00000539005.1_Missense_Mutation_p.A1110V|MACF1_ENST00000317713.7_Missense_Mutation_p.A1110V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1110					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)			GACTTGGATGCAGTTTCTATG	0.453																																						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.(3313-3315)gCa>gTa		microtubule-actin crosslinking factor 1							167.0	163.0	164.0					1																	39781228		2203	4300	6503	SO:0001583	missense	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.chr1:39781228C>T	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.3329C>T	1.37:g.39781228C>T	ENSP00000362006:p.Ala1110Val					MACF1_ENST00000317713.7_Missense_Mutation_p.A1110V|MACF1_ENST00000372915.3_Missense_Mutation_p.A1110V|MACF1_ENST00000545844.1_Missense_Mutation_p.A1110V|MACF1_ENST00000539005.1_Missense_Mutation_p.A1110V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.A1142V|MACF1_ENST00000361689.2_Missense_Mutation_p.A1110V	p.A1105V			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)		27	4091	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1110					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3314C>T		.	.	.	.	.	.	.	.	.	.	C	8.915	0.959730	0.18507	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;D;D	0.87966	-0.12;-0.05;-0.12;-0.16;0.04;-2.05;-2.32	6.02	4.0	0.46444	.	.	.	.	.	T	0.66046	0.2750	N	0.03608	-0.345	0.09310	N	0.999999	B;B;B	0.30634	0.106;0.288;0.082	B;B;B	0.27380	0.055;0.079;0.053	T	0.55321	-0.8159	9	0.28530	T	0.3	.	1.0227	0.01521	0.3522:0.2911:0.1936:0.1632	.	1110;1110;1075	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	V	1110;1110;1110;1110;1110;1068;1259	ENSP00000439537:A1110V;ENSP00000362006:A1110V;ENSP00000354573:A1110V;ENSP00000313438:A1110V;ENSP00000444364:A1110V;ENSP00000435070:A1068V;ENSP00000437059:A1259V	ENSP00000313438:A1110V	A	+	2	0	MACF1	39553815	0.408000	0.25360	0.998000	0.56505	0.711000	0.40976	1.534000	0.36051	1.477000	0.48234	0.650000	0.86243	GCA		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		20	97	0	0	0	1	0	20	97				
KMT2D	8085	broad.mit.edu	37	12	49420109	49420109	+	Missense_Mutation	SNP	G	G	A	rs398123728		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr12:49420109G>A	ENST00000301067.7	-	48	15639	c.15640C>T	c.(15640-15642)Cgc>Tgc	p.R5214C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5214	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.		R -> H (in KABUK1). {ECO:0000269|PubMed:20711175}.		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)	p.R5214C(1)|p.R4944C(1)									CAATAGATGCGCGTGGCCTCG	0.577																																						ENST00000301067.7																			2	Substitution - Missense(2)	p.R5214C(1)|p.R4944C(1)	haematopoietic_and_lymphoid_tissue(2)								c.(15640-15642)Cgc>Tgc		lysine (K)-specific methyltransferase 2D							49.0	53.0	52.0					12																	49420109		2085	4210	6295	SO:0001583	missense	8085							g.chr12:49420109G>A	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.15640C>T	12.37:g.49420109G>A	ENSP00000301067:p.Arg5214Cys						p.R5214C	NM_003482.3	NP_003473.3					48	15639	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15640C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666909	0.47677	.	.	ENSG00000167548	ENST00000301067	D	0.90004	-2.6	5.12	5.12	0.69794	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.37261	N	0.002172	D	0.95865	0.8654	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96743	0.9548	10	0.87932	D	0	.	17.7186	0.88344	0.0:0.0:1.0:0.0	.	5214	O14686	MLL2_HUMAN	C	5214	ENSP00000301067:R5214C	ENSP00000301067:R5214C	R	-	1	0	MLL2	47706376	1.000000	0.71417	0.962000	0.40283	0.980000	0.70556	8.008000	0.88588	2.565000	0.86533	0.655000	0.94253	CGC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	30	0	0	0	1	0	8	30				
RPTOR	57521	broad.mit.edu	37	17	78831653	78831653	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr17:78831653C>G	ENST00000306801.3	+	13	1824	c.1462C>G	c.(1462-1464)Cgg>Ggg	p.R488G	RPTOR_ENST00000537330.1_Missense_Mutation_p.R303G|RPTOR_ENST00000544334.2_Missense_Mutation_p.R488G|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	488					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCGAGAGCTGCGGCCACTTCT	0.652																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1462-1464)Cgg>Ggg		regulatory associated protein of MTOR, complex 1							72.0	65.0	68.0					17																	78831653		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78831653C>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1462C>G	17.37:g.78831653C>G	ENSP00000307272:p.Arg488Gly					RPTOR_ENST00000537330.1_Missense_Mutation_p.R303G|RPTOR_ENST00000544334.2_Missense_Mutation_p.R488G|RPTOR_ENST00000575542.1_3'UTR	p.R488G	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			13	1824	+			488					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1462C>G	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667593	0.67814	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T;T	0.52057	0.68;0.68;0.68	5.19	0.205	0.15204	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.70850	0.3271	M	0.90542	3.125	0.58432	D	0.999995	D;D;D	0.89917	0.992;0.999;1.0	D;D;D	0.72982	0.979;0.951;0.979	T	0.77661	-0.2504	10	0.66056	D	0.02	.	14.3938	0.66999	0.6205:0.3795:0.0:0.0	.	488;303;488	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	G	303;488;488	ENSP00000440947:R303G;ENSP00000307272:R488G;ENSP00000442479:R488G	ENSP00000307272:R488G	R	+	1	2	RPTOR	76446248	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	1.628000	0.37060	0.160000	0.19432	-0.467000	0.05162	CGG		0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		5	30	0	0	0	1	0	5	30				
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr19:22940373T>C	ENST00000596209.1	-	4	2428	c.2338A>G	c.(2338-2340)Aag>Gag	p.K780E	ZNF99_ENST00000397104.3_Missense_Mutation_p.K689E|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343																																						ENST00000397104.3																			3	Substitution - Missense(3)	p.K689E(3)	prostate(1)|lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2065-2067)Aag>Gag		zinc finger protein 99							32.0	34.0	34.0					19																	22940373		1947	4138	6085	SO:0001583	missense	7652							g.chr19:22940373T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2338A>G	19.37:g.22940373T>C	ENSP00000472969:p.Lys780Glu					ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E	p.K689E							5	2064	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2065A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	9.727	1.161345	0.21538	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	L	0.28400	0.85	0.09310	N	1	D	0.65815	0.995	D	0.65233	0.933	T	0.12837	-1.0532	9	0.54805	T	0.06	.	4.187	0.10402	0.1821:0.0:0.5141:0.3038	.	689	A8MXY4	ZNF99_HUMAN	E	689	ENSP00000380293:K689E	ENSP00000380293:K689E	K	-	1	0	ZNF99	22732213	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.737000	0.04877	-0.939000	0.03709	0.313000	0.20887	AAG		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	63	0	0	0	1	0	4	63				
C1S	716	broad.mit.edu	37	12	7177603	7177603	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr12:7177603G>A	ENST00000406697.1	+	15	2343	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	C1S_ENST00000328916.3_Missense_Mutation_p.R572Q|C1S_ENST00000360817.5_Missense_Mutation_p.R572Q|C1S_ENST00000402681.3_Missense_Mutation_p.R405Q			P09871	C1S_HUMAN	complement component 1, s subcomponent	572	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGGGCCGAACAGAGAAG	0.537																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1714-1716)cGa>cAa		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						59.0	55.0	56.0					12																	7177603		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177603G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1715G>A	12.37:g.7177603G>A	ENSP00000385035:p.Arg572Gln					C1S_ENST00000328916.3_Missense_Mutation_p.R572Q|C1S_ENST00000402681.3_Missense_Mutation_p.R405Q|C1S_ENST00000360817.5_Missense_Mutation_p.R572Q	p.R572Q			P09871	C1S_HUMAN			15	2343	+			572			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1715G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759080	0.31137	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.01	-1.11	0.09840	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.227304	0.21989	N	0.066197	T	0.77738	0.4175	N	0.17901	0.54	0.09310	N	1	B	0.34241	0.444	B	0.34093	0.175	T	0.66428	-0.5926	10	0.28530	T	0.3	.	11.4735	0.50284	0.5517:0.0:0.4483:0.0	.	572	P09871	C1S_HUMAN	Q	572;572;572;566;405	ENSP00000385035:R572Q;ENSP00000328173:R572Q;ENSP00000354057:R572Q;ENSP00000384171:R405Q	ENSP00000328173:R572Q	R	+	2	0	C1S	7047864	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.340000	0.07821	-0.152000	0.11156	0.561000	0.74099	CGA		0.537	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		4	29	0	0	0	1	0	4	29				
KMT2D	8085	broad.mit.edu	37	12	49420108	49420108	+	Missense_Mutation	SNP	C	C	A	rs398123729		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr12:49420108C>A	ENST00000301067.7	-	48	15640	c.15641G>T	c.(15640-15642)cGc>cTc	p.R5214L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5214	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.		R -> H (in KABUK1). {ECO:0000269|PubMed:20711175}.		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)										CCAATAGATGCGCGTGGCCTC	0.577																																						ENST00000301067.7																			0											c.(15640-15642)cGc>cTc		lysine (K)-specific methyltransferase 2D							50.0	54.0	53.0					12																	49420108		2080	4205	6285	SO:0001583	missense	8085							g.chr12:49420108C>A	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.15641G>T	12.37:g.49420108C>A	ENSP00000301067:p.Arg5214Leu						p.R5214L	NM_003482.3	NP_003473.3					48	15640	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15641G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915120	0.52546	.	.	ENSG00000167548	ENST00000301067	D	0.89939	-2.59	5.12	5.12	0.69794	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.37261	N	0.002172	D	0.95865	0.8654	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96743	0.9548	10	0.87932	D	0	.	17.7186	0.88344	0.0:1.0:0.0:0.0	.	5214	O14686	MLL2_HUMAN	L	5214	ENSP00000301067:R5214L	ENSP00000301067:R5214L	R	-	2	0	MLL2	47706375	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.818000	0.86416	2.565000	0.86533	0.655000	0.94253	CGC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	30	1	0	7.48243e-07	1	8.61613e-07	9	30				
MED15	51586	broad.mit.edu	37	22	20929420	20929420	+	Silent	SNP	C	C	G			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr22:20929420C>G	ENST00000263205.7	+	9	1242	c.1173C>G	c.(1171-1173)gcC>gcG	p.A391A	MED15_ENST00000292733.7_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000478831.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	391	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAGCCTTGGCCCAAGGTGGGA	0.587																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1171-1173)gcC>gcG		mediator complex subunit 15							168.0	154.0	159.0					22																	20929420		2203	4300	6503	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929420C>G	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1173C>G	22.37:g.20929420C>G						MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000478831.1_Intron	p.A391A	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1242	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	391			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.1173C>G	CCDS33602.1																																																																																				0.587	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		6	141	0	0	0	1	0	6	141				
OR11G2	390439	broad.mit.edu	37	14	20666367	20666367	+	Silent	SNP	C	C	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr14:20666367C>A	ENST00000357366.3	+	1	873	c.873C>A	c.(871-873)ggC>ggA	p.G291G		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTTCTACGGCTCAGTACTGG	0.507																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(871-873)ggC>ggA		olfactory receptor, family 11, subfamily G, member 2							158.0	152.0	154.0					14																	20666367		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666367C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.873C>A	14.37:g.20666367C>A							p.G291G	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	873	+	all_cancers(95;0.00108)		291					Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.873C>A	CCDS32032.1																																																																																				0.507	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			4	123	1	0	0.150653	1	0.159023	4	123				
TUBGCP5	114791	broad.mit.edu	37	15	22851079	22851079	+	Nonsense_Mutation	SNP	T	T	G			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr15:22851079T>G	ENST00000283645.4	+	11	1471	c.1341T>G	c.(1339-1341)taT>taG	p.Y447*	TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.Y447*|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	447					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTCTTGAATATGACAATGTTG	0.483																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1339-1341)taT>taG		tubulin, gamma complex associated protein 5							121.0	121.0	121.0					15																	22851079		2203	4300	6503	SO:0001587	stop_gained	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22851079T>G	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1341T>G	15.37:g.22851079T>G	ENSP00000283645:p.Tyr447*					TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.Y447*	p.Y447*	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	11	1471	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	447					E9PB12|Q6IQ52|Q96PY8	Nonsense_Mutation	SNP	ENST00000283645.4	37	c.1341T>G	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	38	6.981543	0.97979	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	.	.	.	5.62	-2.56	0.06268	.	0.127702	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1597	11.5016	0.50441	0.0:0.437:0.0:0.563	.	.	.	.	X	447	.	ENSP00000283645:Y447X	Y	+	3	2	TUBGCP5	20402520	0.995000	0.38212	0.989000	0.46669	0.912000	0.54170	0.271000	0.18626	-0.396000	0.07703	-0.912000	0.02778	TAT		0.483	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		9	60	0	0	0	1	0	9	60				
KRTAP5-7	440050	broad.mit.edu	37	11	71238651	71238651	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr11:71238651G>A	ENST00000398536.4	+	1	339	c.305G>A	c.(304-306)tGc>tAc	p.C102Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	102	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						aagccctgctgctgctcctca	0.632																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(304-306)tGc>tAc		keratin associated protein 5-7							69.0	88.0	82.0					11																	71238651		2197	4292	6489	SO:0001583	missense	440050					keratin filament		g.chr11:71238651G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.305G>A	11.37:g.71238651G>A	ENSP00000417330:p.Cys102Tyr						p.C102Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	339	+			102			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.305G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	11.12	1.544557	0.27563	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.66	1.66	0.24008	.	.	.	.	.	T	0.04679	0.0127	H	0.94503	3.545	0.28936	N	0.891254	P	0.47910	0.902	B	0.41135	0.348	T	0.11616	-1.0580	9	0.87932	D	0	.	9.311	0.37905	0.0:0.0:1.0:0.0	.	102	Q6L8G8	KRA57_HUMAN	Y	102	ENSP00000417330:C102Y	ENSP00000417330:C102Y	C	+	2	0	KRTAP5-7	70916299	1.000000	0.71417	0.731000	0.30826	0.054000	0.15201	1.883000	0.39658	1.261000	0.44149	0.281000	0.19383	TGC		0.632	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			16	193	0	0	0	1	0	16	193				
DOCK1	1793	broad.mit.edu	37	10	129209120	129209120	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr10:129209120G>A	ENST00000280333.6	+	43	4406	c.4297G>A	c.(4297-4299)Gag>Aag	p.E1433K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1433	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGGGTGAACGAGGTCCAGCG	0.428																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4297-4299)Gag>Aag		dedicator of cytokinesis 1							73.0	70.0	71.0					10																	129209120		1872	4099	5971	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129209120G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4297G>A	10.37:g.129209120G>A	ENSP00000280333:p.Glu1433Lys						p.E1433K	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	43	4406	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1433			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4297G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.644533	0.87859	.	.	ENSG00000150760	ENST00000280333	T	0.16597	2.33	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.957;0.999;0.995	P;P;D	0.63283	0.781;0.829;0.913	T	0.04281	-1.0963	10	0.40728	T	0.16	.	18.3037	0.90172	0.0:0.0:1.0:0.0	.	1433;1499;1433	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	K	1433	ENSP00000280333:E1433K	ENSP00000280333:E1433K	E	+	1	0	DOCK1	129099110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.401000	0.79962	2.546000	0.85860	0.655000	0.94253	GAG		0.428	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		3	28	0	0	0	1	0	3	28				
UBAP1	51271	broad.mit.edu	37	9	34249846	34249846	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr9:34249846C>A	ENST00000297661.4	+	5	1388	c.1153C>A	c.(1153-1155)Ctg>Atg	p.L385M	UBAP1_ENST00000545103.1_Missense_Mutation_p.L449M|UBAP1_ENST00000359544.2_Missense_Mutation_p.L385M|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000540348.1_Missense_Mutation_p.L385M|UBAP1_ENST00000536252.1_Missense_Mutation_p.L385M|UBAP1_ENST00000543944.1_Missense_Mutation_p.L421M	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	385					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CTATTCTGAACTGCAGATGCT	0.527																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(1153-1155)Ctg>Atg		ubiquitin associated protein 1							122.0	114.0	117.0					9																	34249846		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34249846C>A	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1153C>A	9.37:g.34249846C>A	ENSP00000297661:p.Leu385Met					UBAP1_ENST00000297661.4_Missense_Mutation_p.L385M|UBAP1_ENST00000543944.1_Missense_Mutation_p.L421M|UBAP1_ENST00000540348.1_Missense_Mutation_p.L385M|UBAP1_ENST00000359544.2_Missense_Mutation_p.L385M|UBAP1_ENST00000545103.1_Missense_Mutation_p.L449M|UBAP1_ENST00000379186.4_Intron	p.L385M	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		6	1551	+			385					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.1153C>A	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006285	0.74932	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000359544	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.37	4.48	0.54585	UBA-like (1);	0.179453	0.37669	N	0.001981	T	0.64472	0.2601	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.72625	0.962;0.978;0.978;0.944	T	0.65689	-0.6107	10	0.48119	T	0.1	-5.648	11.1674	0.48552	0.0:0.8535:0.0:0.1465	.	449;421;449;385	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	M	449;421;385;385;385;385	ENSP00000441024:L449M;ENSP00000439806:L421M;ENSP00000440456:L385M;ENSP00000439976:L385M;ENSP00000297661:L385M;ENSP00000352541:L385M	ENSP00000297661:L385M	L	+	1	2	UBAP1	34239846	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.002000	0.40835	1.500000	0.48636	0.591000	0.81541	CTG		0.527	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			19	72	1	0	1.33834e-09	1	1.69523e-09	19	72				
SNX13	23161	broad.mit.edu	37	7	17838696	17838696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr7:17838696G>A	ENST00000409389.1	-	23	2585	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R794*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	805					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATATTCCTTCGCAACCACTGA	0.358																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2413-2415)Cga>Tga		sorting nexin 13							171.0	158.0	162.0					7																	17838696		1846	4087	5933	SO:0001587	stop_gained	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17838696G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2413C>T	7.37:g.17838696G>A	ENSP00000386705:p.Arg805*					SNX13_ENST00000428135.3_Nonsense_Mutation_p.R794*|SNX13_ENST00000496855.1_5'UTR	p.R805*			Q9Y5W8	SNX13_HUMAN			23	2585	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		805					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Nonsense_Mutation	SNP	ENST00000409389.1	37	c.2413C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.629015	0.98892	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	5.69	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0186	13.5417	0.61679	0.0:0.0:0.5848:0.4152	.	.	.	.	X	805;794;842	.	ENSP00000242044:R842X	R	-	1	2	SNX13	17805221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.218000	0.51192	1.339000	0.45563	0.563000	0.77884	CGA		0.358	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		6	53	0	0	0	1	0	6	53				
RABGGTA	5875	broad.mit.edu	37	14	24734832	24734832	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr14:24734832C>T	ENST00000399409.3	-	16	2176	c.1693G>A	c.(1693-1695)Gtc>Atc	p.V565I	RABGGTA_ENST00000560777.1_Missense_Mutation_p.V174I|RABGGTA_ENST00000216840.6_Missense_Mutation_p.V565I|TGM1_ENST00000206765.6_5'Flank|TGM1_ENST00000544573.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	565					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TAGGTGAGGACGCTGCTAACT	0.577																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(1693-1695)Gtc>Atc		Rab geranylgeranyltransferase, alpha subunit							38.0	41.0	40.0					14																	24734832		2019	4173	6192	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24734832C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1693G>A	14.37:g.24734832C>T	ENSP00000382341:p.Val565Ile					RABGGTA_ENST00000560777.1_Missense_Mutation_p.V174I|RABGGTA_ENST00000216840.6_Missense_Mutation_p.V565I	p.V565I	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	2176	-			565					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1693G>A	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.442077	0.01098	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.45276	0.9;0.9	5.67	3.25	0.37280	.	0.216537	0.40222	N	0.001156	T	0.13628	0.0330	N	0.02129	-0.67	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.02654	T	1	-6.3411	8.5901	0.33682	0.0:0.1576:0.0:0.8424	.	565	Q92696	PGTA_HUMAN	I	565	ENSP00000216840:V565I;ENSP00000382341:V565I	ENSP00000216840:V565I	V	-	1	0	RABGGTA	23804672	1.000000	0.71417	0.994000	0.49952	0.072000	0.16883	0.897000	0.28390	0.391000	0.25143	-0.605000	0.04089	GTC		0.577	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		3	21	0	0	0	1	0	3	21				
NUDT12	83594	broad.mit.edu	37	5	102887965	102887965	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr5:102887965C>A	ENST00000230792.2	-	6	1327	c.1231G>T	c.(1231-1233)Gtt>Ttt	p.V411F	NUDT12_ENST00000507423.1_Missense_Mutation_p.V393F|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	411	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTCTTGTCAACTTTAATTTCT	0.403																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1231-1233)Gtt>Ttt		nudix (nucleoside diphosphate linked moiety X)-type motif 12							171.0	161.0	164.0					5																	102887965		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102887965C>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1231G>T	5.37:g.102887965C>A	ENSP00000230792:p.Val411Phe					NUDT12_ENST00000507423.1_Missense_Mutation_p.V393F	p.V411F	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	6	1327	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	411			Nudix hydrolase.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.1231G>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905670	0.92107	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.08008	3.14;3.14	5.76	5.76	0.90799	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.051376	0.85682	D	0.000000	T	0.29524	0.0736	M	0.64997	1.995	0.80722	D	1	D;P	0.76494	0.999;0.885	D;P	0.75484	0.986;0.688	T	0.00259	-1.1870	10	0.87932	D	0	-28.9781	19.9664	0.97271	0.0:1.0:0.0:0.0	.	393;411	E7EM93;Q9BQG2	.;NUD12_HUMAN	F	411;393	ENSP00000230792:V411F;ENSP00000424521:V393F	ENSP00000230792:V411F	V	-	1	0	NUDT12	102915864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.724000	0.93272	0.650000	0.86243	GTT		0.403	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		3	34	1	0	1	1	1	3	34				
TENM2	57451	broad.mit.edu	37	5	167553796	167553796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr5:167553796C>A	ENST00000518659.1	+	12	2286	c.2247C>A	c.(2245-2247)tgC>tgA	p.C749*	TENM2_ENST00000519204.1_Nonsense_Mutation_p.C628*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.C749*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.C582*|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Nonsense_Mutation_p.C517*	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	749	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACGGCGTCTGCATCGGGGGAG	0.582																																						ENST00000519204.1																			0											c.(1882-1884)tgC>tgA		teneurin transmembrane protein 2							35.0	41.0	39.0					5																	167553796		2031	4173	6204	SO:0001587	stop_gained	57451							g.chr5:167553796C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2247C>A	5.37:g.167553796C>A	ENSP00000429430:p.Cys749*					CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Nonsense_Mutation_p.C749*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.C749*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.C517*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.C582*	p.C628*							11	2002	+								Q9ULU2	Nonsense_Mutation	SNP	ENST00000518659.1	37	c.1884C>A		.	.	.	.	.	.	.	.	.	.	C	40	7.995026	0.98599	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	.	.	.	5.5	5.5	0.81552	.	0.089045	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	X	749;749;628;517;582	.	ENSP00000384905:C582X	C	+	3	2	ODZ2	167486374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.115000	0.50391	2.735000	0.93741	0.655000	0.94253	TGC		0.582	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	18	1	0	0.115264	1	0.128824	3	18				
ZNF232	7775	broad.mit.edu	37	17	5009416	5009416	+	Silent	SNP	G	G	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr17:5009416G>A	ENST00000250076.3	-	5	1692	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	ZNF232_ENST00000575898.1_Silent_p.L337L|ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	319					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GATGCTGACCGAGGTTTGAGC	0.438																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(1036-1038)ctC>ctT		zinc finger protein 232							111.0	113.0	112.0					17																	5009416		2203	4300	6503	SO:0001819	synonymous_variant	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009416G>A	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1038C>T	17.37:g.5009416G>A						ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.L337L	p.L346L	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN			5	1692	-			319						Silent	SNP	ENST00000250076.3	37	c.1038C>T	CCDS11068.1																																																																																				0.438	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		5	133	0	0	0	1	0	5	133				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	71	0	0	0	1	0	5	71				
KLC4	89953	broad.mit.edu	37	6	43034071	43034071	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr6:43034071C>G	ENST00000394056.2	+	6	1094	c.599C>G	c.(598-600)gCt>gGt	p.A200G	KLC4_ENST00000347162.5_Missense_Mutation_p.A200G|KLC4_ENST00000259708.3_Missense_Mutation_p.A218G|KLC4_ENST00000394058.1_Missense_Mutation_p.A200G|KLC4_ENST00000453940.2_Missense_Mutation_p.A123G|KLC4_ENST00000479388.1_Missense_Mutation_p.A200G|KLC4_ENST00000458460.2_Missense_Mutation_p.A200G			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	200						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GCTACAGCAGCTCAGCAGGGT	0.557																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(598-600)gCt>gGt		kinesin light chain 4							207.0	176.0	187.0					6																	43034071		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43034071C>G	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.599C>G	6.37:g.43034071C>G	ENSP00000377620:p.Ala200Gly					KLC4_ENST00000259708.3_Missense_Mutation_p.A218G|KLC4_ENST00000453940.2_Missense_Mutation_p.A123G|KLC4_ENST00000458460.2_Missense_Mutation_p.A200G|KLC4_ENST00000479388.1_Missense_Mutation_p.A200G|KLC4_ENST00000394058.1_Missense_Mutation_p.A200G|KLC4_ENST00000347162.5_Missense_Mutation_p.A200G	p.A200G			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		6	1094	+			200					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.599C>G	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160112	0.57368	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.41	3.5	0.40072	Rabaptin, GTPase-Rab5 binding (1);	0.257441	0.27645	N	0.018453	T	0.34337	0.0894	L	0.51422	1.61	0.46725	D	0.999179	P;B;P;P	0.43231	0.801;0.221;0.643;0.477	P;B;B;B	0.46419	0.516;0.057;0.209;0.133	T	0.09530	-1.0670	10	0.27785	T	0.31	1.7439	14.0729	0.64870	0.0:0.8476:0.1524:0.0	.	123;218;200;200	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	G	200;123;113;178;200;218;200;200;200	ENSP00000340221:A200G;ENSP00000395806:A123G;ENSP00000419784:A113G;ENSP00000417652:A178G;ENSP00000410358:A200G;ENSP00000259708:A218G;ENSP00000418031:A200G;ENSP00000377620:A200G;ENSP00000377622:A200G	ENSP00000259708:A218G	A	+	2	0	KLC4	43142049	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	4.716000	0.61916	1.137000	0.42214	0.650000	0.86243	GCT		0.557	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		3	74	0	0	0	1	0	3	74				
KCNC4	3749	broad.mit.edu	37	1	110768691	110768691	+	Silent	SNP	G	G	A			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr1:110768691G>A	ENST00000369787.3	+	3	1737	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	KCNC4_ENST00000438661.2_Silent_p.E570E|KCNC4_ENST00000413138.3_Silent_p.E570E|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	570					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCCCGAGGAGCGCCGGGCCC	0.637																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1708-1710)gaG>gaA		potassium voltage-gated channel, Shaw-related subfamily, member 4							51.0	57.0	55.0					1																	110768691		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768691G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1710G>A	1.37:g.110768691G>A						KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.E570E|KCNC4_ENST00000438661.2_Silent_p.E570E	p.E570E	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1737	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	570					Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.1710G>A	CCDS821.1																																																																																				0.637	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		9	47	0	0	0	1	0	9	47				
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16.0	18.0	17.0					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		4	12	0	0	0	1	0	4	12				
MYO9A	4649	broad.mit.edu	37	15	72119078	72119078	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr15:72119078T>G	ENST00000356056.5	-	42	7962	c.7490A>C	c.(7489-7491)aAg>aCg	p.K2497T	MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568T|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478T|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2497	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTTTGCCCTTTTCCGGGTT	0.488																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(7489-7491)aAg>aCg		myosin IXA							160.0	164.0	163.0					15																	72119078		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72119078T>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7490A>C	15.37:g.72119078T>G	ENSP00000348349:p.Lys2497Thr					MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568T|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478T	p.K2497T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7962	-			2497			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.7490A>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.506682	0.44558	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.90444	-2.64;-2.67;-2.63	5.2	2.83	0.33086	.	.	.	.	.	D	0.86209	0.5878	L	0.34521	1.04	0.47698	D	0.999499	P;P	0.46706	0.883;0.836	B;P	0.46758	0.444;0.526	T	0.82715	-0.0320	9	0.72032	D	0.01	.	6.9767	0.24679	0.1332:0.0732:0.0:0.7935	.	2497;2261	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	T	2497;2568;2478	ENSP00000348349:K2497T;ENSP00000399162:K2568T;ENSP00000398250:K2478T	ENSP00000348349:K2497T	K	-	2	0	MYO9A	69906132	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	5.802000	0.69122	0.278000	0.22164	-0.490000	0.04691	AAG		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		14	109	0	0	0	1	0	14	109				
FAM193B	54540	broad.mit.edu	37	5	176952083	176952083	+	Missense_Mutation	SNP	C	C	A	rs563761633		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr5:176952083C>A	ENST00000514747.1	-	6	1447	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	FAM193B_ENST00000443375.2_Missense_Mutation_p.V434F|FAM193B_ENST00000329540.5_Missense_Mutation_p.V93F|FAM193B_ENST00000508298.1_5'Flank	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	547						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						AAGCTGTTGACCCGATCCAGT	0.567																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(277-279)Gtc>Ttc		family with sequence similarity 193, member B							68.0	71.0	70.0					5																	176952083		1987	4155	6142	SO:0001583	missense	54540							g.chr5:176952083C>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1399G>T	5.37:g.176952083C>A	ENSP00000422131:p.Val467Phe					FAM193B_ENST00000443375.2_Missense_Mutation_p.V434F|FAM193B_ENST00000514747.1_Missense_Mutation_p.V467F	p.V93F			Q6IPW0	Q6IPW0_HUMAN			9	3106	-			143					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.277G>T	CCDS54954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.548601|4.548601	0.86127|0.86127	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000524677|ENST00000514747;ENST00000443375;ENST00000329540	.|T;T;T	.|0.59083	.|0.29;0.35;0.34	5.86|5.86	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72342|0.72342	0.3448|0.3448	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	T|T	0.74799|0.74799	-0.3542|-0.3542	5|10	.|0.59425	.|D	.|0.04	-19.591|-19.591	16.4156|16.4156	0.83732|0.83732	0.1326:0.8673:0.0:0.0|0.1326:0.8673:0.0:0.0	.|.	.|467;93;434	.|E9PET5;E7ER81;E9PEZ8	.|.;.;.	V|F	152|467;434;93	.|ENSP00000422131:V467F;ENSP00000410098:V434F;ENSP00000332014:V93F	.|ENSP00000332014:V93F	G|V	-|-	2|1	0|0	FAM193B|FAM193B	176884689|176884689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.453000|7.453000	0.80700|0.80700	1.468000|1.468000	0.48064|0.48064	0.563000|0.563000	0.77884|0.77884	GGT|GTC		0.567	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		17	81	1	0	1.67942e-08	1	2.05864e-08	17	81				
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	rs193921065		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr17:47696424G>C	ENST00000393328.2	-	6	764	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank	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.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttG		speckle-type POZ protein							118.0	120.0	119.0					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>C	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.399C>G	17.37:g.47696424G>C	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921613	0.73213	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		19	120	0	0	0	1	0	19	120				
TDRP	157695	broad.mit.edu	37	8	494659	494664	+	In_Frame_Del	DEL	GGCGGC	GGCGGC	-	rs71202629	byFrequency	TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr8:494659_494664delGGCGGC	ENST00000324079.6	-	1	334_339	c.94_99delGCCGCC	c.(94-99)gccgccdel	p.AA32del	TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del|TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del			Q86YL5	TDRP_HUMAN	testis development related protein	32	Poly-Ala.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A32_A33delAA(1)									CCTGCGCCTGggcggcggcggcggcg	0.782														1130	0.225639	0.056	0.4049	5008	,	,		8817	0.1677		0.3439	False		,,,				2504	0.2658					ENST00000324079.6																			1	Deletion - In frame(1)	p.A32_A33delAA(1)	upper_aerodigestive_tract(1)								c.(94-99)del		testis development related protein				110,14,698		47,1,15,6,1,341						1.0	0.0		dbSNP_134	2	1280,14,1322		556,0,168,7,0,577	no	codingComplex	C8orf42	NM_175075.3		603,1,183,13,1,918	A1A1,A1A2,A1R,A2A2,A2R,RR		49.4648,15.0852,41.2449				1390,28,2020				SO:0001651	inframe_deletion	157695							g.chr8:494659_494664delGGCGGC	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.94_99delGCCGCC	8.37:g.494665_494670delGGCGGC	ENSP00000315111:p.Ala32_Ala33del					TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del|TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del	p.AA32del							1	334_339	-								B6VF03|B9EG53	In_Frame_Del	DEL	ENST00000324079.6	37	c.94_99delGCCGCC	CCDS47759.1																																																																																				0.782	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		3	4						3	4	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		4	5						4	5	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440636	124440636	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr11:124440636delA	ENST00000284287.3	+	1	744	c.672delA	c.(670-672)atafs	p.I224fs		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	224					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCAACATCATAGTCACGAGCT	0.483																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(670-672)atfs		olfactory receptor, family 8, subfamily A, member 1							118.0	114.0	115.0					11																	124440636		2201	4299	6500	SO:0001589	frameshift_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440636delA	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.672delA	11.37:g.124440636delA	ENSP00000284287:p.Ile224fs						p.I224fs	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	744	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	224					Q6IEW7|Q96RC6	Frame_Shift_Del	DEL	ENST00000284287.3	37	c.672delA	CCDS31712.1																																																																																				0.483	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		17	45						17	45	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20045269	20045270	+	Frame_Shift_Del	DEL	TT	TT	-	rs150239312	byFrequency	TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr19:20045269_20045270delTT	ENST00000343769.5	+	4	1533_1534	c.1505_1506delTT	c.(1504-1506)attfs	p.I502fs	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CATAAGAAAATTCATACTGGAG	0.347																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1504-1506)afs		zinc finger protein 93																																				SO:0001589	frameshift_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045269_20045270delTT	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1505_1506delTT	19.37:g.20045269_20045270delTT	ENSP00000342002:p.Ile502fs					AC007204.2_ENST00000592245.1_lincRNA	p.I502fs	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1533_1534	+			502					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Frame_Shift_Del	DEL	ENST00000343769.5	37	c.1505_1506delTT	CCDS32973.1																																																																																				0.347	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		19	98						19	98	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		5	4						5	4	---	---	---	---
