#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GRHL3	57822	broad.mit.edu	37	1	24669481	24669481	+	Missense_Mutation	SNP	A	A	G	rs143169996		TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:24669481A>G	ENST00000350501.5	+	11	1512	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	GRHL3_ENST00000361548.4_Missense_Mutation_p.N462S|GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	462					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTCATCCCCAATGTGCACTTC	0.662													A|||	1	0.000199681	0.0	0.0	5008	,	,		16955	0.0		0.001	False		,,,				2504	0.0					ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1384-1386)aAt>aGt		grainyhead-like 3 (Drosophila)		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	109.0	117.0	114.0		1247,1400,1385,1385	5.3	1.0	1	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense	GRHL3	NM_001195010.1,NM_021180.3,NM_198173.2,NM_198174.2	46,46,46,46	0,5,6498	GG,GA,AA		0.0465,0.0227,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	416/557,467/608,462/603,462/627	24669481	5,13001	2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669481A>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1385A>G	1.37:g.24669481A>G	ENSP00000288955:p.Asn462Ser		Somatic				GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S|GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000350501.5_Missense_Mutation_p.N462S	p.N462S	NM_198173.2	NP_937816.1	WXS	Illumina GAIIx	Phase_I	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	11	1615	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	462					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1385A>G	CCDS252.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	14.19	2.461375	0.43736	2.27E-4	4.65E-4	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11495	2.98;2.77;2.96;2.98;2.98	5.27	5.27	0.74061	.	0.135823	0.64402	D	0.000003	T	0.07503	0.0189	N	0.19112	0.55	0.48830	D	0.999712	B;P;P	0.35272	0.181;0.493;0.493	B;B;B	0.29942	0.051;0.109;0.109	T	0.40156	-0.9578	10	0.30854	T	0.27	-33.1163	14.5217	0.67853	1.0:0.0:0.0:0.0	.	416;467;462	A2A297;Q8TE85-2;G3XAF0	.;.;.	S	462;369;462;416;467	ENSP00000354943:N462S;ENSP00000340543:N369S;ENSP00000288955:N462S;ENSP00000348333:N416S;ENSP00000236255:N467S	ENSP00000236255:N467S	N	+	2	0	GRHL3	24542068	1.000000	0.71417	0.960000	0.40013	0.457000	0.32468	4.952000	0.63618	2.216000	0.71823	0.459000	0.35465	AAT		0.662	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		4	203	4	203	---	---	---	---
FMO4	2329	broad.mit.edu	37	1	171301877	171301877	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:171301877G>C	ENST00000367749.3	+	7	987	c.657G>C	c.(655-657)tgG>tgC	p.W219C	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	219					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGGTACCTGGGTTCTTGGGC	0.363																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(655-657)tgG>tgC		flavin containing monooxygenase 4							146.0	144.0	145.0					1																	171301877		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171301877G>C	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.657G>C	1.37:g.171301877G>C	ENSP00000356723:p.Trp219Cys		Somatic				FMO4_ENST00000462992.1_3'UTR	p.W219C	NM_002022.1	NP_002013.1	WXS	Illumina GAIIx	Phase_I	P31512	FMO4_HUMAN			7	987	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		219					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.657G>C	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354361	0.61293	.	.	ENSG00000076258	ENST00000367749	T	0.66280	-0.2	5.93	5.02	0.67125	.	0.127611	0.64402	D	0.000018	D	0.82481	0.5046	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88566	0.3126	10	0.87932	D	0	-8.1658	14.524	0.67873	0.0707:0.0:0.9293:0.0	.	219	P31512	FMO4_HUMAN	C	219	ENSP00000356723:W219C	ENSP00000356723:W219C	W	+	3	0	FMO4	169568501	1.000000	0.71417	0.999000	0.59377	0.551000	0.35334	8.447000	0.90332	1.505000	0.48720	0.655000	0.94253	TGG		0.363	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		8	113	8	113	---	---	---	---
TFCP2L1	29842	broad.mit.edu	37	2	122038720	122038720	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr2:122038720C>G	ENST00000263707.5	-	2	287	c.190G>C	c.(190-192)Gag>Cag	p.E64Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	64					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTCAGCGTCTCTTCATGCAGC	0.637																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(190-192)Gag>Cag		transcription factor CP2-like 1							80.0	84.0	83.0					2																	122038720		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122038720C>G	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.190G>C	2.37:g.122038720C>G	ENSP00000263707:p.Glu64Gln		Somatic					p.E64Q	NM_014553.2	NP_055368.1	WXS	Illumina GAIIx	Phase_I	Q9NZI6	TF2L1_HUMAN			2	287	-	Renal(3;0.01)		64					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.190G>C	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176257	0.94846	.	.	ENSG00000115112	ENST00000263707	T	0.18338	2.22	5.2	5.2	0.72013	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.53528	-0.8426	10	0.34782	T	0.22	.	18.7572	0.91837	0.0:1.0:0.0:0.0	.	64;64	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	Q	64	ENSP00000263707:E64Q	ENSP00000263707:E64Q	E	-	1	0	TFCP2L1	121755190	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	7.818000	0.86416	2.429000	0.82318	0.655000	0.94253	GAG		0.637	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		7	95	7	95	---	---	---	---
SNTN	132203	broad.mit.edu	37	3	63638399	63638399	+	Silent	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr3:63638399T>C	ENST00000343837.3	+	1	56	c.36T>C	c.(34-36)tcT>tcC	p.S12S	SNTN_ENST00000496807.1_Silent_p.S8S	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	12						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						AGGACAAATCTCTCCACTTGG	0.488																																						ENST00000496807.1																			0				endometrium(2)|ovary(1)	3						c.(22-24)tcT>tcC		sentan, cilia apical structure protein							133.0	101.0	112.0					3																	63638399		2203	4300	6503	SO:0001819	synonymous_variant	132203					cilium	calcium ion binding	g.chr3:63638399T>C	AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817			33706	protein-coding gene	gene with protein product	"""S100A-like protein"""					18829862	Standard	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000343837.3:c.36T>C	3.37:g.63638399T>C			Somatic				SNTN_ENST00000343837.3_Silent_p.S12S	p.S8S			WXS	Illumina GAIIx	Phase_I	A6NMZ2	SNTAN_HUMAN			1	26	+			12					B7FF65	Silent	SNP	ENST00000343837.3	37	c.24T>C	CCDS33779.1																																																																																				0.488	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1	NM_001080537		3	42	3	42	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83788357	83788357	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr4:83788357G>C	ENST00000395310.2	-	9	1177	c.995C>G	c.(994-996)tCt>tGt	p.S332C	SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000432794.1_Missense_Mutation_p.S332C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	332	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCATGATAGAATAAACACT	0.413																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(994-996)tCt>tGt		SEC31 homolog A (S. cerevisiae)							132.0	119.0	124.0					4																	83788357		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83788357G>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.995C>G	4.37:g.83788357G>C	ENSP00000378721:p.Ser332Cys		Somatic				SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C	p.S332C			WXS	Illumina GAIIx	Phase_I	O94979	SC31A_HUMAN			9	1158	-		Hepatocellular(203;0.114)	332			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.995C>G	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238745	0.95240	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68331	1.57;1.57;1.57;1.42;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;-0.32;1.57;1.57	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84999	0.5597	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.998;0.998;0.988;0.999;0.989;1.0;0.995;0.997;0.998	D;D;P;P;D;D;D;P;D;D	0.75484	0.945;0.929;0.891;0.806;0.978;0.923;0.986;0.878;0.926;0.967	D	0.86835	0.2013	10	0.87932	D	0	-20.5567	19.8364	0.96659	0.0:0.0:1.0:0.0	.	327;332;332;332;332;332;332;332;332;104	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;.;SC31A_HUMAN;.	C	332;332;332;327;332;332;332;332;332;332;332;332;332;104;332;332	ENSP00000337602:S332C;ENSP00000426886:S332C;ENSP00000378721:S332C;ENSP00000408027:S327C;ENSP00000426569:S332C;ENSP00000407944:S332C;ENSP00000400926:S332C;ENSP00000325087:S332C;ENSP00000309070:S332C;ENSP00000421633:S332C;ENSP00000421464:S332C;ENSP00000424635:S332C;ENSP00000347329:S332C;ENSP00000264405:S104C;ENSP00000424451:S332C;ENSP00000425999:S332C	ENSP00000264405:S104C	S	-	2	0	SEC31A	84007381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.799000	0.99117	2.765000	0.95021	0.573000	0.79308	TCT		0.413	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		3	81	3	81	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123202796	123202796	+	Silent	SNP	A	A	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr4:123202796A>G	ENST00000264501.4	+	52	9277	c.8904A>G	c.(8902-8904)ccA>ccG	p.P2968P	KIAA1109_ENST00000388738.3_Silent_p.P2968P|KIAA1109_ENST00000455637.1_Silent_p.P2968P			Q2LD37	K1109_HUMAN	KIAA1109	2968					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCAGCTACCAGAAGGCTTAG	0.388																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(8902-8904)ccA>ccG		KIAA1109							113.0	106.0	109.0					4																	123202796		1824	4089	5913	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123202796A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8904A>G	4.37:g.123202796A>G			Somatic				KIAA1109_ENST00000455637.1_Silent_p.P2968P|KIAA1109_ENST00000388738.3_Silent_p.P2968P	p.P2968P			WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			52	9277	+			2968					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.8904A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	9.414	1.081333	0.20309	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.46	-7.83	0.01201	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	1.4871	0.02449	0.3497:0.1707:0.0853:0.3943	.	.	.	.	G	926	.	.	R	+	1	2	KIAA1109	123422246	0.544000	0.26441	0.916000	0.36221	0.993000	0.82548	-0.241000	0.08940	-1.599000	0.01605	-0.438000	0.05819	AGA		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		6	90	6	90	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109200789	109200789	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:109200789T>G	ENST00000261483.4	+	21	4276	c.3224T>G	c.(3223-3225)tTt>tGt	p.F1075C	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1075					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGAAAAGGGTTTGATTGTCGG	0.453																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3223-3225)tTt>tGt		mannosidase, alpha, class 2A, member 1							159.0	142.0	148.0					5																	109200789		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109200789T>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3224T>G	5.37:g.109200789T>G	ENSP00000261483:p.Phe1075Cys		Somatic				MAN2A1_ENST00000505313.1_3'UTR	p.F1075C	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	21	4276	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1075					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3224T>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338413	0.41398	.	.	ENSG00000112893	ENST00000261483	T	0.79454	-1.27	5.53	4.35	0.52113	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.055992	0.64402	D	0.000001	D	0.88265	0.6390	M	0.87456	2.885	0.52501	D	0.999951	D	0.76494	0.999	D	0.74674	0.984	D	0.88928	0.3371	9	.	.	.	-16.9903	12.1853	0.54234	0.1281:0.0:0.0:0.8719	.	1075	Q16706	MA2A1_HUMAN	C	1075	ENSP00000261483:F1075C	.	F	+	2	0	MAN2A1	109228688	1.000000	0.71417	0.289000	0.24876	0.030000	0.12068	4.152000	0.58111	1.003000	0.39130	0.528000	0.53228	TTT		0.453	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			5	56	5	56	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109200801	109200801	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:109200801T>C	ENST00000261483.4	+	21	4288	c.3236T>C	c.(3235-3237)tTc>tCc	p.F1079S	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1079					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATTGTCGGTTCTCTAGCAAA	0.463																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3235-3237)tTc>tCc		mannosidase, alpha, class 2A, member 1							164.0	144.0	151.0					5																	109200801		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109200801T>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3236T>C	5.37:g.109200801T>C	ENSP00000261483:p.Phe1079Ser		Somatic				MAN2A1_ENST00000505313.1_3'UTR	p.F1079S	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	21	4288	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1079					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3236T>C	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682908	0.47991	.	.	ENSG00000112893	ENST00000261483	T	0.77620	-1.11	5.53	5.53	0.82687	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.191337	0.46145	D	0.000317	T	0.75752	0.3892	L	0.61218	1.895	0.50171	D	0.999852	B	0.28128	0.201	B	0.29267	0.1	T	0.72330	-0.4326	9	.	.	.	-11.1991	15.9662	0.79974	0.0:0.0:0.0:1.0	.	1079	Q16706	MA2A1_HUMAN	S	1079	ENSP00000261483:F1079S	.	F	+	2	0	MAN2A1	109228700	1.000000	0.71417	0.756000	0.31282	0.389000	0.30415	4.162000	0.58177	2.223000	0.72356	0.528000	0.53228	TTC		0.463	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			4	52	4	52	---	---	---	---
MUT	4594	broad.mit.edu	37	6	49412360	49412360	+	Silent	SNP	A	A	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr6:49412360A>C	ENST00000274813.3	-	9	1795	c.1668T>G	c.(1666-1668)tcT>tcG	p.S556S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	556					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTTGCCCGAGATGCATCCA	0.433																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1666-1668)tcT>tcG		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						184.0	182.0	183.0					6																	49412360		2203	4300	6503	SO:0001819	synonymous_variant	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49412360A>C		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1668T>G	6.37:g.49412360A>C			Somatic					p.S556S	NM_000255.3	NP_000246.2	WXS	Illumina GAIIx	Phase_I	P22033	MUTA_HUMAN			9	1795	-	Lung NSC(77;0.0376)		556					A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	ENST00000274813.3	37	c.1668T>G	CCDS4924.1																																																																																				0.433	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			7	200	7	200	---	---	---	---
LYN	4067	broad.mit.edu	37	8	56860229	56860229	+	Silent	SNP	C	C	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr8:56860229C>A	ENST00000519728.1	+	4	527	c.231C>A	c.(229-231)atC>atA	p.I77I	LYN_ENST00000520220.2_Silent_p.I56I	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	77	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ATGATGGCATCCACCCGGACG	0.498																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(166-168)atC>atA		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							175.0	159.0	165.0					8																	56860229		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56860229C>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.231C>A	8.37:g.56860229C>A			Somatic				LYN_ENST00000519728.1_Silent_p.I77I	p.I56I	NM_001111097.2	NP_001104567.1	WXS	Illumina GAIIx	Phase_I	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		4	442	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	77					A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.168C>A	CCDS6162.1																																																																																				0.498	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		7	123	7	123	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95538760	95538760	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr8:95538760T>C	ENST00000297591.5	-	8	1787	c.1712A>G	c.(1711-1713)gAc>gGc	p.D571G	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	571					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGCTAAATGGTCACCAAGTCT	0.403																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1711-1713)gAc>gGc		KIAA1429							134.0	132.0	133.0					8																	95538760		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538760T>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1712A>G	8.37:g.95538760T>C	ENSP00000297591:p.Asp571Gly		Somatic				KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G	p.D571G	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1787	-	Breast(36;3.29e-05)		571					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1712A>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791398	0.70452	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.47177	0.85;0.85;0.85	5.95	5.95	0.96441	.	0.062105	0.64402	D	0.000003	T	0.38348	0.1037	N	0.24115	0.695	0.45662	D	0.99858	P;P	0.40476	0.718;0.718	B;B	0.39258	0.295;0.295	T	0.32693	-0.9897	10	0.54805	T	0.06	-15.4389	16.4069	0.83677	0.0:0.0:0.0:1.0	.	571;571	Q69YN4-4;Q69YN4	.;VIR_HUMAN	G	571	ENSP00000297591:D571G;ENSP00000395600:D571G;ENSP00000398390:D571G	ENSP00000297591:D571G	D	-	2	0	KIAA1429	95607936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.721000	0.47260	2.272000	0.75746	0.460000	0.39030	GAC		0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		6	140	6	140	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39763969	39763969	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr12:39763969T>G	ENST00000361418.5	-	2	154	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000395670.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	47	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTAAAAGCCTTATCTTTCCCT	0.393																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(139-141)Aag>Cag		kinesin family member 21A							123.0	120.0	121.0					12																	39763969		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763969T>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.139A>C	12.37:g.39763969T>G	ENSP00000354878:p.Lys47Gln		Somatic				KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.K47Q	p.K47Q			WXS	Illumina GAIIx	Phase_I	Q7Z4S6	KI21A_HUMAN			2	558	-		Lung NSC(34;0.179)|all_lung(34;0.213)	47			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.139A>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445287	0.83993	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.47	5.47	0.80525	Kinesin, motor domain (4);	0.000000	0.52532	D	0.000066	D	0.83538	0.5276	L	0.53561	1.675	0.58432	D	0.999992	P;D;D;D;D	0.89917	0.829;0.999;0.988;1.0;0.963	P;D;D;D;P	0.91635	0.499;0.997;0.92;0.999;0.747	D	0.85291	0.1067	10	0.87932	D	0	.	15.8762	0.79166	0.0:0.0:0.0:1.0	.	47;47;47;47;47	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	Q	47	ENSP00000354851:K47Q;ENSP00000379029:K47Q;ENSP00000445606:K47Q;ENSP00000354878:K47Q;ENSP00000438075:K47Q	ENSP00000344501:K47Q	K	-	1	0	KIF21A	38050236	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	7.757000	0.85209	2.206000	0.71126	0.528000	0.53228	AAG		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	96	8	96	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67801398	67801398	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr13:67801398T>C	ENST00000377865.2	-	1	1309	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000544246.1_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G|PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G			Q9HC56	PCDH9_HUMAN	protocadherin 9	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CACATCTGTGTCCTTATCTGA	0.383																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1174-1176)gAc>gGc		protocadherin 9							118.0	114.0	115.0					13																	67801398		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801398T>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1175A>G	13.37:g.67801398T>C	ENSP00000367096:p.Asp392Gly		Somatic				PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000377865.2_Missense_Mutation_p.D392G	p.D392G	NM_203487.2	NP_982354.1	WXS	Illumina GAIIx	Phase_I	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1866	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	392			Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1175A>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996635	0.54147	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.89917	0.972;1.0;1.0;1.0	P;D;D;D	0.97110	0.883;1.0;0.999;1.0	D	0.93490	0.6835	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	392;392;392;392	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	G	392	ENSP00000442186:D392G;ENSP00000367096:D392G;ENSP00000401699:D392G;ENSP00000332060:D392G;ENSP00000367092:D392G	ENSP00000332060:D392G	D	-	2	0	PCDH9	66699399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAC		0.383	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	138	5	138	---	---	---	---
WDR76	79968	broad.mit.edu	37	15	44150892	44150892	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr15:44150892G>A	ENST00000263795.6	+	11	1503	c.1433G>A	c.(1432-1434)aGg>aAg	p.R478K	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.R414K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	478										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TATGATGCAAGGCGATTGAAT	0.388																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1432-1434)aGg>aAg		WD repeat domain 76							154.0	149.0	151.0					15																	44150892		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44150892G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1433G>A	15.37:g.44150892G>A	ENSP00000263795:p.Arg478Lys		Somatic				WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.R414K	p.R478K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	WXS	Illumina GAIIx	Phase_I	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	11	1503	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	478					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1433G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724563	0.89298	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.69175	-0.38;-0.38	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.87269	2.87	0.52501	D	0.999953	D	0.71674	0.998	D	0.68943	0.961	D	0.85916	0.1443	10	0.66056	D	0.02	-9.8978	18.8584	0.92262	0.0:0.0:1.0:0.0	.	478	Q9H967	WDR76_HUMAN	K	478;414	ENSP00000263795:R478K;ENSP00000370645:R414K	ENSP00000263795:R478K	R	+	2	0	WDR76	41938184	1.000000	0.71417	0.971000	0.41717	0.553000	0.35397	7.961000	0.87903	2.804000	0.96469	0.462000	0.41574	AGG		0.388	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		4	79	4	79	---	---	---	---
