#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
SGK1	6446	broad.mit.edu	37	6	134491968	134491973	+	In_Frame_Del	DEL	TTTGGG	TTTGGG	-			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08			TTTGGG	-	TTTGGG	TTTGGG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:134491968_134491973delTTTGGG	ENST00000237305.7	-	11	1207_1212	c.1119_1124delCCCAAA	c.(1117-1125)aacccaaat>aat	p.373_375NPN>N	SGK1_ENST00000367858.5_In_Frame_Del_p.468_470NPN>N|SGK1_ENST00000475719.2_In_Frame_Del_p.329_331NPN>N|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000413996.3_In_Frame_Del_p.387_389NPN>N|SGK1_ENST00000367857.5_In_Frame_Del_p.363_365NPN>N|SGK1_ENST00000528577.1_In_Frame_Del_p.401_403NPN>N	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	373	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACTCACCACATTTGGGTTAAAAGGGG	0.388																																						ENST00000237305.7	0.740000	0.340000	0.630000	0.420000	0.510000	0.531754	0.510000	0.510000																										0				46						c.(1117-1125)aacccaaat>aat		serum/glucocorticoid regulated kinase 1																																				SO:0001651	inframe_deletion	6446	0	0					g.chr6:134491968_134491973delTTTGGG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1119_1124delCCCAAA	chr6.hg19:g.134491968_134491973delTTTGGG	ENSP00000237305:p.Asn373_Pro374del	0					SGK1_ENST00000413996.3_In_Frame_Del_p.387_389NPN>N|SGK1_ENST00000367858.5_In_Frame_Del_p.468_470NPN>N|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_In_Frame_Del_p.329_331NPN>N|SGK1_ENST00000528577.1_In_Frame_Del_p.401_403NPN>N|SGK1_ENST00000367857.5_In_Frame_Del_p.363_365NPN>N	p.373_375NPN>N	NM_005627.3	NP_005618.2	0	0	0	1.966951	O00141	SGK1_HUMAN		11	1207_1212	-	Colorectal(23;0.221)		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	In_Frame_Del	DEL	ENST00000237305.7	1	1	hg19	c.1119_1124delCCCAAA	CCDS5170.1	0																																																																																								0.106776		TCGA-HV-A5A5-01A-11D-A26I-08	0.388	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2	0	0	1		27	2		0		0	2	123		123	125	1	1.930000	-19.954690	1	0.130000				24	45		670	687	0		1	1	0	0	0	123	0		0.462010	9.986496e-01	0	4	0	282	0	24	670
CCDC88B	283234	broad.mit.edu	37	11	64116904	64116904	+	Silent	SNP	G	G	C			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:64116904G>C	ENST00000356786.5	+	15	2762	c.2718G>C	c.(2716-2718)ctG>ctC	p.L906L	CCDC88B_ENST00000359902.2_Silent_p.L58L|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	906						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGAATTTCTGCGAGAAAAGG	0.652																																						ENST00000356786.5	1.000000	0.920000	1.000000	0.990000	0.990000	0.995370	0.990000	1.000000																										0				27						c.(2716-2718)ctG>ctC		coiled-coil domain containing 88B							19.0	24.0	22.0					11																	64116904		2200	4296	6496	SO:0001819	synonymous_variant	283234	0	0					g.chr11:64116904G>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2718G>C	chr11.hg19:g.64116904G>C		0					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.L58L	p.L906L	NM_032251.5	NP_115627.6	0	0	0	1.974689	A6NC98	CC88B_HUMAN		15	2762	+			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	1	1	hg19	c.2718G>C	CCDS8072.2	1																																																																																								0.110338		TCGA-HV-A5A5-01A-11D-A26I-08	0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	1	0	1		2	2	2	0		0	0	30		30	30	1	1.930000	-19.957820	1	0.130000	NM_032251			13	12		91	89	1		1	0		0	0	30	0		0.999576	6.562683e-01	0	1	0	16	0	13	91
MMP13	4322	broad.mit.edu	37	11	102816457	102816457	+	Silent	SNP	A	A	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:102816457A>T	ENST00000260302.3	-	9	1261	c.1233T>A	c.(1231-1233)atT>atA	p.I411I	MMP13_ENST00000340273.4_Silent_p.I411I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	411	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CTTTATCCATAATATGGTTAG	0.303																																						ENST00000260302.3	1.000000	0.680000	1.000000	0.890000	0.990000	0.959584	0.990000	1.000000																										0				27						c.(1231-1233)atT>atA		matrix metallopeptidase 13 (collagenase 3)	Marimastat(DB00786)						110.0	111.0	111.0					11																	102816457		2202	4298	6500	SO:0001819	synonymous_variant	4322	0	0					g.chr11:102816457A>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1233T>A	chr11.hg19:g.102816457A>T		0					MMP13_ENST00000340273.4_Silent_p.I411I	p.I411I	NM_002427.3	NP_002418.1	0	0	0	1.968664	P45452	MMP13_HUMAN		9	1261	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	A8K846|B2RCZ3|Q6NWN6	Silent	SNP	ENST00000260302.3	1	1	hg19	c.1233T>A	CCDS8324.1	1																																																																																								0.107967		TCGA-HV-A5A5-01A-11D-A26I-08	0.303	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	1	0	1		2	2	2	0		0	0	28		28	28	1	1.930000	-19.990060	1	0.130000	NM_002427			16	16		191	188	0		1	0		0	0	28	0		0.999937	6.971975e-03	0	0	0	2	0	16	191
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.520000	1.000000	0.790000	0.990000	0.928016	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	1	2	3	2.024156	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.137290		TCGA-HV-A5A5-01A-11D-A26I-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1		2	2	2	0		0	0	12		12	11	1	1.930000	-5.317441	1	0.130000	NM_033360			7	7		91	91	0		1	0	1	0	0	12	422		0.981909	1.998835e-02	9.999987e-01	1	41	2	533	7	91
ADAMTS20	80070	broad.mit.edu	37	12	43886398	43886398	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr12:43886398G>A	ENST00000389420.3	-	6	985	c.986C>T	c.(985-987)aCa>aTa	p.T329I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T329I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	329	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTCTTTAATGTGGTAGCACC	0.363																																						ENST00000389420.3	1.000000	0.660000	1.000000	0.940000	0.990000	0.966191	0.990000	1.000000																										0				95						c.(985-987)aCa>aTa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							163.0	131.0	142.0					12																	43886398		2203	4300	6503	SO:0001583	missense	80070	0	0					g.chr12:43886398G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.986C>T	chr12.hg19:g.43886398G>A	ENSP00000374071:p.Thr329Ile	0					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T329I	p.T329I	NM_025003.3	NP_079279.3	1	2	3	2.024156	P59510	ATS20_HUMAN		6	985	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	1	1	hg19	c.986C>T	CCDS31778.2	1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000515	0.54147	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.65916	-0.18;-0.18	4.79	4.79	0.61399	4.79	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.50627	D	0.000108	D	0.83880	0.5350	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87771	0.2605	10	0.87932	D	0	.	18.7307	0.91734	0.0:0.0:1.0:0.0	.	329	P59510	ATS20_HUMAN	I	329	ENSP00000374071:T329I;ENSP00000448341:T329I	ENSP00000374068:T329I	T	-	2	0	0	ADAMTS20	42172665	42172665	1.000000	0.71417	0.633000	0.29310	0.037000	0.13140	9.136000	0.94489	2.587000	0.87381	0.557000	0.71058	ACA	0.137290		TCGA-HV-A5A5-01A-11D-A26I-08	0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	1	0	1		2	2	2	0		0	0	32		32	32	1	1.930000	-15.198080	1	0.130000	NM_025003			10	10		114	111	0		1			0	0	32	0		0.996901	0	0	0	0	0	0	10	114
KBTBD6	89890	broad.mit.edu	37	13	41705969	41705969	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr13:41705969G>A	ENST00000379485.1	-	1	913	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R161C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	227										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTATCCAAGCGCAGGACAGCC	0.577																																						ENST00000379485.1	0.840000	0.320000	0.700000	0.420000	0.550000	0.569963	0.550000	0.540000																										0				43						c.(679-681)Cgc>Tgc		kelch repeat and BTB (POZ) domain containing 6							78.0	76.0	77.0					13																	41705969		2203	4300	6503	SO:0001583	missense	89890	1	121412	37				g.chr13:41705969G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.679C>T	chr13.hg19:g.41705969G>A	ENSP00000368799:p.Arg227Cys	1					KBTBD6_ENST00000499385.2_Missense_Mutation_p.R161C	p.R227C	NM_152903.4	NP_690867.3	1	2	3	2.131836	Q86V97	KBTB6_HUMAN		1	913	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	1	1	hg19	c.679C>T	CCDS9376.1	0	.	.	.	.	.	.	.	.	.	.	g	8.936	0.964565	0.18583	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.69926	-0.44;-0.44	3.69	2.84	0.33178	3.69	2.84	0.33178	BTB/Kelch-associated (2);	0.403521	0.25071	N	0.033363	T	0.53465	0.1798	L	0.47716	1.5	0.39301	D	0.964912	B;B	0.16396	0.013;0.017	B;B	0.12156	0.006;0.007	T	0.52177	-0.8610	10	0.46703	T	0.11	.	4.7523	0.13066	0.1156:0.0:0.6731:0.2113	.	161;227	F5GZN7;Q86V97	.;KBTB6_HUMAN	C	227;161	ENSP00000368799:R227C;ENSP00000444326:R161C	ENSP00000368799:R227C	R	-	1	0	0	KBTBD6	40603969	40603969	0.993000	0.37304	0.992000	0.48379	0.726000	0.41606	0.964000	0.29306	0.891000	0.36235	0.462000	0.41574	CGC	0.183099		TCGA-HV-A5A5-01A-11D-A26I-08	0.577	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	0	0	1		2	2	2	0		0	0	91		91	90	1	1.930000	-3.234467	1	0.130000	NM_152903			16	15		466	465	0		1	0		0	0	91	0		0.999933	6.645258e-02	0	0	0	12	0	16	466
NEK5	341676	broad.mit.edu	37	13	52661584	52661584	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr13:52661584G>A	ENST00000355568.4	-	15	1421	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	428					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R485G(1)|p.R428G(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAGATGGACGAAGACCCTAT	0.343																																						ENST00000355568.4	1.000000	0.430000	0.890000	0.560000	0.710000	0.726107	0.710000	1.000000																										2	Substitution - Missense(2)	p.R485G(1)|p.R428G(1)	kidney(2)	39						c.(1282-1284)Cgt>Tgt		NIMA-related kinase 5							108.0	101.0	103.0					13																	52661584		2203	4300	6503	SO:0001583	missense	341676	1	121412	29				g.chr13:52661584G>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1282C>T	chr13.hg19:g.52661584G>A	ENSP00000347767:p.Arg428Cys	1						p.R428C	NM_199289.1	NP_954983.1	1	2	3	2.131836	Q6P3R8	NEK5_HUMAN		15	1421	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	1	1	hg19	c.1282C>T	CCDS31979.1	0	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913462	0.52439	.	.	ENSG00000197168	ENST00000355568	T	0.79247	-1.25	5.45	2.83	0.33086	5.45	2.83	0.33086	.	0.000000	0.64402	D	0.000003	D	0.84061	0.5389	M	0.65498	2.005	0.33027	D	0.529691	D	0.89917	1.0	D	0.91635	0.999	D	0.85308	0.1077	10	0.87932	D	0	.	7.7703	0.29004	0.2616:0.0:0.7384:0.0	.	428	Q6P3R8	NEK5_HUMAN	C	428	ENSP00000347767:R428C	ENSP00000347767:R428C	R	-	1	0	0	NEK5	51559585	51559585	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	1.885000	0.39678	0.286000	0.22352	-0.812000	0.03155	CGT	0.183099		TCGA-HV-A5A5-01A-11D-A26I-08	0.343	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	1	0	1		2	2	2	0		0	0	43		43	43	1	1.930000	-3.006531	1	0.130000	NM_199289			18	18		401	392	0		1	0		0	0	43	0		0.999979	0	0	0	0	1	0	18	401
PCK2	5106	broad.mit.edu	37	14	24569250	24569250	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr14:24569250C>T	ENST00000216780.4	+	7	1330	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	PCK2_ENST00000558096.1_Silent_p.A220A|PCK2_ENST00000545054.2_Silent_p.A220A|PCK2_ENST00000561286.1_Silent_p.A220A|PCK2_ENST00000559250.1_Silent_p.A366A|PCK2_ENST00000396973.4_Silent_p.A354A|NRL_ENST00000561028.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	354					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTGGGGTTGCCCCTGGTACCT	0.502																																						ENST00000216780.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1060-1062)gcC>gcT		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							110.0	115.0	113.0					14																	24569250		2203	4300	6503	SO:0001819	synonymous_variant	5106	0	0					g.chr14:24569250C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1062C>T	chr14.hg19:g.24569250C>T		1					PCK2_ENST00000545054.2_Silent_p.A220A|PCK2_ENST00000558096.1_Silent_p.A220A|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.A354A|PCK2_ENST00000561286.1_Silent_p.A220A|PCK2_ENST00000559250.1_Silent_p.A366A	p.A354A	NM_004563.2	NP_004554.2	1	2	3	2.111925	Q16822	PCKGM_HUMAN		7	1330	+			O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	1	1	hg19	c.1062C>T	CCDS9609.1	1																																																																																								0.183099		TCGA-HV-A5A5-01A-11D-A26I-08	0.502	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	1	0	1		2	2	2	0		0	0	130		130	129	1	1.930000	-3.221884	1	0.130000	NM_001018073			101	100		655	654	1		1	1		0	0	130	0		1.000000	9.995625e-01	0	27	0	47	0	101	655
VKORC1	79001	broad.mit.edu	37	16	31102595	31102595	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:31102595C>A	ENST00000394975.2	-	3	579	c.352G>T	c.(352-354)Gtc>Ttc	p.V118F	VKORC1_ENST00000354895.4_Missense_Mutation_p.C81F|PRSS53_ENST00000280606.6_5'Flank|VKORC1_ENST00000319788.7_Missense_Mutation_p.C145F|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000498155.1_Missense_Mutation_p.C150F|VKORC1_ENST00000300851.6_Missense_Mutation_p.C138F|VKORC1_ENST00000394971.3_Missense_Mutation_p.C149F	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	118					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCCAGGTAGACAGAACCAGCG	0.557																																						ENST00000394975.2	1.000000	0.530000	1.000000	0.760000	0.990000	0.917441	0.990000	1.000000																										0				4						c.(352-354)Gtc>Ttc		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						92.0	80.0	84.0					16																	31102595		2197	4300	6497	SO:0001583	missense	79001	0	0					g.chr16:31102595C>A		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.352G>T	chr16.hg19:g.31102595C>A	ENSP00000378426:p.Val118Phe	0					VKORC1_ENST00000319788.7_Missense_Mutation_p.C145F|VKORC1_ENST00000354895.4_Missense_Mutation_p.C81F|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394971.3_Missense_Mutation_p.C149F|PRSS53_ENST00000280606.6_5'Flank|VKORC1_ENST00000300851.6_Missense_Mutation_p.C138F|VKORC1_ENST00000498155.1_Missense_Mutation_p.C150F	p.V118F	NM_024006.4	NP_076869.1	1	2	3	2.051020	Q9BQB6	VKOR1_HUMAN		3	579	-			A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	1	1	hg19	c.352G>T	CCDS10703.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.16|16.16	3.045854|3.045854	0.55110|0.55110	.|.	.|.	ENSG00000167397|ENSG00000167397	ENST00000300851;ENST00000319788;ENST00000354895;ENST00000394971;ENST00000498155|ENST00000394975	D;D;D|D	0.98120|0.98264	-4.39;-4.73;-4.09|-4.83	5.92|5.92	-3.16|-3.16	0.05217|0.05217	5.92|5.92	-3.16|-3.16	0.05217|0.05217	.|Vitamin K epoxide reductase (2);	.|0.619698	.|0.14857	.|N	.|0.294303	D|D	0.95204|0.95204	0.8445|0.8445	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B;B|B	0.30824|0.16603	0.296;0.128|0.018	B;B|B	0.29785|0.22152	0.107;0.035|0.038	T|T	0.82508|0.82508	-0.0422|-0.0422	8|8	0.87932|.	D|.	0|.	-15.2501|-15.2501	18.204|18.204	0.89848|0.89848	0.0:0.1877:0.7473:0.065|0.0:0.1877:0.7473:0.065	.|.	145;81|118	Q9BQB6-2;A6NIQ6|Q9BQB6	.;.|VKOR1_HUMAN	F|F	138;145;81;149;150|118	ENSP00000300851:C138F;ENSP00000326135:C145F;ENSP00000346969:C81F|ENSP00000378426:V118F	ENSP00000300851:C138F|.	C|V	-|-	2|1	0|0	0|0	VKORC1|VKORC1	31010096|31010096	31010096|31010096	0.565000|0.565000	0.26610|0.26610	0.676000|0.676000	0.29932|0.29932	0.976000|0.976000	0.68499|0.68499	0.092000|0.092000	0.15066|0.15066	-0.397000|-0.397000	0.07691|0.07691	-0.244000|-0.244000	0.11960|0.11960	TGT|GTC	0.142815		TCGA-HV-A5A5-01A-11D-A26I-08	0.557	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	1	0	1		2	2	2	0		0	0	32		32	32	1	1.930000	-13.191870	1	0.130000	NM_024006			9	9		131	130	0		1	1		0	0	32	0		0.994528	9.999965e-01	0	39	0	419	0	9	131
MT1B	4490	broad.mit.edu	37	16	56686964	56686964	+	Missense_Mutation	SNP	G	G	A	rs200369659		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:56686964G>A	ENST00000334346.2	+	3	228	c.173G>A	c.(172-174)cGc>cAc	p.R58H	RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Silent_p.P57P	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	58	Alpha.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GAGAAGTGCCGCTGCTGTGCC	0.542																																						ENST00000334346.2	1.000000	0.890000	1.000000	0.990000	0.990000	0.993707	0.990000	1.000000																										0				4						c.(172-174)cGc>cAc		metallothionein 1B							94.0	93.0	93.0					16																	56686964		2198	4300	6498	SO:0001583	missense	4490	5	121412	41				g.chr16:56686964G>A	AY168638	CCDS10765.1	16q13	2008-02-05	2007-03-02		ENSG00000169688	ENSG00000169688		"""Metallothioneins"""	7394	protein-coding gene	gene with protein product		156349	"""metallothionein 1Q"""	MT1, MT1Q		6089206, 3785191	Standard	NM_005947		Approved		uc002ejs.3	P07438	OTTHUMG00000133277	ENST00000334346.2:c.173G>A	chr16.hg19:g.56686964G>A	ENSP00000334998:p.Arg58His	0					RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Silent_p.P57P	p.R58H	NM_005947.2	NP_005938.1	1	2	3	2.035249	P07438	MT1B_HUMAN		3	228	+			Q86YX0	Missense_Mutation	SNP	ENST00000334346.2	1	1	hg19	c.173G>A	CCDS10765.1	1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738792	0.15642	.	.	ENSG00000169688	ENST00000334346	T	0.09911	2.93	3.06	0.876	0.19138	3.06	0.876	0.19138	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.285648	0.28140	U	0.016444	T	0.07413	0.0187	.	.	.	0.80722	D	1	P	0.39116	0.66	B	0.32762	0.152	T	0.24693	-1.0153	9	0.87932	D	0	.	5.4103	0.16344	0.1233:0.2054:0.6713:0.0	.	58	P07438	MT1B_HUMAN	H	58	ENSP00000334998:R58H	ENSP00000334998:R58H	R	+	2	0	0	MT1B	55244465	55244465	1.000000	0.71417	0.895000	0.35142	0.011000	0.07611	1.851000	0.39338	0.104000	0.17725	-0.279000	0.10071	CGC	0.139508		TCGA-HV-A5A5-01A-11D-A26I-08	0.542	MT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257057.2	1	0	1		2	2	2	0		0	0	109		109	109	1	1.930000	-10.311070	1	0.130000	NM_005947			42	40		497	496	0		1	0		0	0	109	0		1.000000	0	0	0	0	1	0	42	497
SPNS3	201305	broad.mit.edu	37	17	4356344	4356344	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:4356344C>T	ENST00000355530.2	+	8	1237	c.957C>T	c.(955-957)ggC>ggT	p.G319G	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.G192G	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	319					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCATGACCGGCGTCATTGGGG	0.567																																						ENST00000355530.2	0.870000	0.390000	0.740000	0.490000	0.610000	0.624284	0.610000	0.600000																										0				28						c.(955-957)ggC>ggT		spinster homolog 3 (Drosophila)							91.0	85.0	87.0					17																	4356344		2203	4300	6503	SO:0001819	synonymous_variant	201305	7	121412	41				g.chr17:4356344C>T		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.957C>T	chr17.hg19:g.4356344C>T		0					SPNS3_ENST00000333476.2_Silent_p.G192G|SPNS3_ENST00000576069.1_3'UTR	p.G319G	NM_182538.4	NP_872344.3	0	1	1	1.916031	Q6ZMD2	SPNS3_HUMAN		8	1237	+			Q8IZ31	Silent	SNP	ENST00000355530.2	1	1	hg19	c.957C>T	CCDS11045.1	0																																																																																								0.070811		TCGA-HV-A5A5-01A-11D-A26I-08	0.567	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	0	0	1		2	2	2	0		0	0	85		85	85	1	1.930000	-4.199964	1	0.130000	NM_182538			22	21		492	486	0		1	0		0	0	85	0		0.999999	3.696631e-02	0	0	0	7	0	22	492
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:7578235T>A	ENST00000269305.4	-	6	803	c.614A>T	c.(613-615)tAt>tTt	p.Y205F	TP53_ENST00000359597.4_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y205F|TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000445888.2_Missense_Mutation_p.Y205F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATCCAAATACTCCACACG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	1.000000	0.680000	1.000000	0.810000	0.920000	0.910877	0.920000	1.000000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	24185						c.(613-615)tAt>tTt	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						136.0	121.0	126.0					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7578235T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>T	chr17.hg19:g.7578235T>A	ENSP00000269305:p.Tyr205Phe	0	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000420246.2_Missense_Mutation_p.Y205F|TP53_ENST00000359597.4_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F	p.Y205F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	1	1	1.916031	P04637	P53_HUMAN		6	803	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.614A>T	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966153	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	4.33	0.51752	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	M	0.88906	2.99	0.54753	D	0.999982	D;D;D;D;D;D;D	0.69078	0.962;0.996;0.99;0.996;0.995;0.986;0.997	D;D;D;D;D;D;D	0.76071	0.946;0.984;0.966;0.979;0.987;0.979;0.969	D	0.97337	0.9954	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205F;ENSP00000352610:Y205F;ENSP00000269305:Y205F;ENSP00000398846:Y205F;ENSP00000391127:Y205F;ENSP00000391478:Y205F;ENSP00000425104:Y73F;ENSP00000423862:Y112F	ENSP00000269305:Y205F	Y	-	2	0	0	TP53	7518960	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT	0.070811		TCGA-HV-A5A5-01A-11D-A26I-08	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0		0	0	42		42	42	1	1.930000	-20.000000	1	0.130000	NM_000546			19	19		182	181	1		1	1	1	0	0	42	1380		0.999993	9.738842e-01	1	22	109	38	1467	19	182
CD226	10666	broad.mit.edu	37	18	67614045	67614045	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr18:67614045C>T	ENST00000280200.4	-	3	575	c.307G>A	c.(307-309)Gtt>Att	p.V103I	CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V103I	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	103	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TAGTAGCCAACATCATCTTCA	0.418																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4	1.000000	0.290000	0.450000	0.360000	0.410000	0.426184	0.410000	0.450000																										0				24						c.(307-309)Gtt>Att		CD226 molecule							114.0	104.0	108.0					18																	67614045		2203	4300	6503	SO:0001583	missense	10666	0	0					g.chr18:67614045C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.307G>A	chr18.hg19:g.67614045C>T	ENSP00000280200:p.Val103Ile	1					CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V103I	p.V103I	NM_006566.2	NP_006557.2	0	0	0	1.818857	Q15762	CD226_HUMAN		3	575	-		Esophageal squamous(42;0.129)	B2R818	Missense_Mutation	SNP	ENST00000280200.4	1	1	hg19	c.307G>A	CCDS11997.1	0	.	.	.	.	.	.	.	.	.	.	C	4.746	0.138729	0.09083	.	.	ENSG00000150637	ENST00000280200	T	0.64803	-0.12	5.51	0.462	0.16695	5.51	0.462	0.16695	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.314578	0.33916	N	0.004434	T	0.31606	0.0802	N	0.05510	-0.035	0.09310	N	1	B	0.20368	0.044	B	0.20577	0.03	T	0.13124	-1.0521	10	0.14252	T	0.57	.	4.3927	0.11348	0.0:0.4783:0.1594:0.3623	.	103	Q15762	CD226_HUMAN	I	103	ENSP00000280200:V103I	ENSP00000280200:V103I	V	-	1	0	0	CD226	65765025	65765025	0.000000	0.05858	0.009000	0.14445	0.442000	0.32017	-0.509000	0.06336	0.077000	0.16863	0.655000	0.94253	GTT	0.033226		TCGA-HV-A5A5-01A-11D-A26I-08	0.418	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	1	0	1		2	2	2	0		0	0	37		37	36	1	1.930000	-5.560943	1	0.130000	NM_006566			13	13		195	195	0		1	0		0	0	37	0		0.999585	4.739336e-03	0	0	0	2	0	13	195
LRFN1	57622	broad.mit.edu	37	19	39804836	39804836	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:39804836C>T	ENST00000248668.4	-	1	1140	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	381	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCCACGGGCGCCGTCGCTTCC	0.692																																						ENST00000248668.4	1.000000	0.350000	1.000000	0.540000	0.800000	0.782030	0.800000	1.000000																										0				18						c.(1141-1143)Gcg>Acg		leucine rich repeat and fibronectin type III domain containing 1							24.0	30.0	28.0					19																	39804836		2176	4262	6438	SO:0001583	missense	57622	1	121162	24				g.chr19:39804836C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1141G>A	chr19.hg19:g.39804836C>T	ENSP00000248668:p.Ala381Thr	1					CTC-246B18.8_ENST00000601911.1_RNA	p.A381T	NM_020862.1	NP_065913.1	1	8	9	2.882683	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)	1	1140	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	0	1	hg19	c.1141G>A	CCDS46071.1	0	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510446	0.64522	.	.	ENSG00000128011	ENST00000248668	T	0.68624	-0.34	4.53	4.53	0.55603	4.53	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000444	T	0.65923	0.2738	N	0.25286	0.73	0.58432	D	0.999998	P	0.46952	0.887	P	0.55391	0.775	T	0.66492	-0.5910	10	0.40728	T	0.16	.	14.7902	0.69837	0.0:1.0:0.0:0.0	.	381	Q9P244	LRFN1_HUMAN	T	381	ENSP00000248668:A381T	ENSP00000248668:A381T	A	-	1	0	0	LRFN1	44496676	44496676	0.996000	0.38824	0.615000	0.29064	0.472000	0.32918	2.624000	0.46444	2.352000	0.79861	0.655000	0.94253	GCG	0.386719		TCGA-HV-A5A5-01A-11D-A26I-08	0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	0	0	1		2	2	2	0		0	0	36		36	35	1	1.930000	-9.365681	1	0.130000	NM_020862			7	7		203	202	0		1	0		0	0	36	0		0.980810	1.451090e-02	0	0	0	5	0	7	203
PSG4	5672	broad.mit.edu	37	19	43702149	43702149	+	Splice_Site	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:43702149G>A	ENST00000405312.3	-	3	946	c.709C>T	c.(709-711)Cca>Tca	p.P237S	PSG4_ENST00000244295.9_Splice_Site_p.H237Y|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	237	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.P237T(1)|p.H237N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGATACTCACGGAGGAGATTC	0.527																																						ENST00000405312.3	1.000000	0.890000	1.000000	0.990000	0.990000	0.991620	0.990000	1.000000																										2	Substitution - Missense(2)	p.P237T(1)|p.H237N(1)	lung(2)	24						c.(709-711)Cca>Tca		pregnancy specific beta-1-glycoprotein 4							40.0	48.0	45.0					19																	43702149		2110	4239	6349	SO:0001630	splice_region_variant	5672	4	119230	39				g.chr19:43702149G>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.709+1C>T	chr19.hg19:g.43702149G>A		0					PSG4_ENST00000244295.9_Splice_Site_p.H237Y|PSG4_ENST00000433626.2_Intron	p.P237S	NM_002780.3	NP_002771.2	1	2	3	2.094941	Q00888	PSG4_HUMAN		3	946	-		Prostate(69;0.00682)	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Splice_Site	SNP	ENST00000405312.3	0	1	hg19	c.709C>T	CCDS46093.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	4.459|4.459	0.085043|0.085043	0.08583|0.08583	.|.	.|.	ENSG00000243137|ENSG00000243137	ENST00000244295|ENST00000405312	T|T	0.34667|0.59772	1.35|0.24	1.96|1.96	-0.726|-0.726	0.11170|0.11170	1.96|1.96	-0.726|-0.726	0.11170|0.11170	.|Immunoglobulin-like (1);	.|.	.|.	.|.	.|.	T|T	0.44973|0.44973	0.1319|0.1319	L|L	0.49126|0.49126	1.545|1.545	0.09310|0.09310	N|N	1|1	B|B	0.06786|0.18310	0.001|0.027	B|B	0.08055|0.19946	0.003|0.027	T|T	0.32188|0.32188	-0.9916|-0.9916	9|9	0.02654|0.31617	T|T	1|0.26	.|.	4.4957|4.4957	0.11835|0.11835	0.6207:0.0:0.3793:0.0|0.6207:0.0:0.3793:0.0	.|.	237|237	Q00888-2|Q00888	.|PSG4_HUMAN	Y|S	237|237	ENSP00000244295:H237Y|ENSP00000384770:P237S	ENSP00000244295:H237Y|ENSP00000384770:P237S	H|P	-|-	1|1	0|0	0|0	PSG4|PSG4	48393989|48393989	48393989|48393989	0.003000|0.003000	0.15002|0.15002	0.008000|0.008000	0.14137|0.14137	0.006000|0.006000	0.05464|0.05464	-1.087000|-1.087000	0.03383|0.03383	-0.365000|-0.365000	0.08076|0.08076	-1.218000|-1.218000	0.01608|0.01608	CAT|CCA	0.152047		TCGA-HV-A5A5-01A-11D-A26I-08	0.527	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	0	0	1		2	2	2	0		0	0	250		250	364	1	1.930000	-3.142702	1	0.130000	NM_213633	Missense_Mutation		84	44		1125	484	0		1	0		0	0	250	0		1.000000	4.972261e-03	0	0	0	2	0	84	1125
NOTCH2	4853	broad.mit.edu	37	1	120458964	120458964	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr1:120458964C>G	ENST00000256646.2	-	34	6600	c.6381G>C	c.(6379-6381)aaG>aaC	p.K2127N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2127					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTACTACCCTTGGCATCCT	0.507			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2	0.640000	0.140000	0.500000	0.230000	0.350000	0.373812	0.350000	0.340000				Dom	yes			Dom	yes		1	1p13-p11	1p13-p11	4853	N, F, Mis	Notch homolog 2				L	L			marginal zone lymphoma, DLBCL		0				158						c.(6379-6381)aaG>aaC		notch 2							152.0	137.0	142.0					1																	120458964		2203	4300	6503	SO:0001583	missense	4853	1	121412	34	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	g.chr1:120458964C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6381G>C	chr1.hg19:g.120458964C>G	ENSP00000256646:p.Lys2127Asn	1						p.K2127N	NM_024408.3	NP_077719.2	1	10	11	3.169964	Q04721	NOTC2_HUMAN		34	6600	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	0	1	hg19	c.6381G>C	CCDS908.1	0	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777249	0.31411	.	.	ENSG00000134250	ENST00000256646	D	0.83250	-1.7	5.5	4.59	0.56863	5.5	4.59	0.56863	.	0.000000	0.39615	U	0.001310	T	0.69557	0.3124	M	0.61703	1.905	0.44012	D	0.996729	B	0.14438	0.01	B	0.10450	0.005	T	0.70934	-0.4737	10	0.51188	T	0.08	.	9.6325	0.39787	0.0:0.8419:0.0:0.1581	.	2127	Q04721	NOTC2_HUMAN	N	2127	ENSP00000256646:K2127N	ENSP00000256646:K2127N	K	-	3	2	2	NOTCH2	120260487	120260487	0.996000	0.38824	1.000000	0.80357	0.791000	0.44710	0.961000	0.29267	1.320000	0.45209	0.561000	0.74099	AAG	0.451104		TCGA-HV-A5A5-01A-11D-A26I-08	0.507	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	0	0	1		2	2	2	0		0	0	61		61	61	1	1.930000	-1.867313	0	0.130000	NM_024408			8	8		576	568	0		1	1		0	0	61	0		0.988834	3.937036e-01	0	4	0	86	0	8	576
CRKL	1399	broad.mit.edu	37	22	21272254	21272254	+	Missense_Mutation	SNP	G	G	A	rs567876179		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr22:21272254G>A	ENST00000354336.3	+	1	541	c.32G>A	c.(31-33)cGc>cAc	p.R11H		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	11					activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCTCGGACCGCTCCGCCTGG	0.692																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3	0.810000	0.130000	0.590000	0.230000	0.390000	0.422157	0.390000	0.340000																										0				14						c.(31-33)cGc>cAc		v-crk avian sarcoma virus CT10 oncogene homolog-like							28.0	29.0	28.0					22																	21272254		2202	4299	6501	SO:0001583	missense	1399	1	121404	30				g.chr22:21272254G>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.32G>A	chr22.hg19:g.21272254G>A	ENSP00000346300:p.Arg11His	0						p.R11H	NM_005207.3	NP_005198.1	0	1	1	1.923762	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)	1	541	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	0	1	hg19	c.32G>A	CCDS13785.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.711248	0.96821	.	.	ENSG00000099942	ENST00000354336	T	0.69806	-0.43	5.27	5.27	0.74061	5.27	5.27	0.74061	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	L	0.46885	1.475	0.80722	D	1	D	0.61697	0.99	D	0.69307	0.963	T	0.77579	-0.2535	10	0.59425	D	0.04	.	16.742	0.85462	0.0:0.0:1.0:0.0	.	11	P46109	CRKL_HUMAN	H	11	ENSP00000346300:R11H	ENSP00000346300:R11H	R	+	2	0	0	CRKL	19602254	19602254	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.444000	0.80532	2.627000	0.88993	0.650000	0.86243	CGC	0.092852		TCGA-HV-A5A5-01A-11D-A26I-08	0.692	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	0	0	1		2	2	2	0		0	0	26		26	26	1	1.930000	-6.110456	1	0.130000	NM_005207			4	4		158	155	0		1	0		0	0	26	0		0.886926	1.717032e-01	0	0	0	24	0	4	158
LRRTM4	80059	broad.mit.edu	37	2	77746270	77746270	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr2:77746270C>T	ENST00000409093.1	-	3	1061	c.725G>A	c.(724-726)cGc>cAc	p.R242H	LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R242H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	242					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.R242H(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTAATGGAGCGAATCCTGTT	0.448																																						ENST00000409093.1	1.000000	0.790000	1.000000	0.990000	0.990000	0.985182	0.990000	1.000000																										2	Substitution - Missense(2)	p.R242H(2)	large_intestine(2)	64						c.(724-726)cGc>cAc		leucine rich repeat transmembrane neuronal 4							57.0	54.0	55.0					2																	77746270		1891	4099	5990	SO:0001583	missense	80059	0	0					g.chr2:77746270C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.725G>A	chr2.hg19:g.77746270C>T	ENSP00000386357:p.Arg242His	0					LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R242H	p.R242H			0	0	0	1.969198	Q86VH4	LRRT4_HUMAN		3	1061	-			Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	0	1	hg19	c.725G>A	CCDS46346.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853202	0.51270	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.133674	0.50627	D	0.000114	T	0.66036	0.2749	N	0.25031	0.7	0.44570	D	0.997532	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.97;0.949;0.983	T	0.68112	-0.5495	10	0.62326	D	0.03	.	18.9104	0.92481	0.0:1.0:0.0:0.0	.	243;242;242	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	243;242;242;242;243	ENSP00000387228:R243H;ENSP00000387297:R242H;ENSP00000386357:R242H;ENSP00000386236:R242H;ENSP00000386286:R243H	ENSP00000386236:R242H	R	-	2	0	0	LRRTM4	77599778	77599778	0.966000	0.33281	1.000000	0.80357	0.997000	0.91878	1.999000	0.40806	2.798000	0.96311	0.655000	0.94253	CGC	0.107967		TCGA-HV-A5A5-01A-11D-A26I-08	0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	1	0	1		2	2	2	0		0	0	23		23	23	1	1.930000	-17.516960	1	0.130000	NM_024993			11	11		91	91	1		1	0		0	0	23	0		0.998645	0	0	0	0	1	0	11	91
WNT7A	7476	broad.mit.edu	37	3	13860786	13860786	+	Silent	SNP	G	G	A	rs536761427		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr3:13860786G>A	ENST00000285018.4	-	4	1009	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	235					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCACGTGAACGGCCTCGTTGT	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		13197	0.0		0.0	False		,,,				2504	0.001					ENST00000285018.4	0.840000	0.340000	0.710000	0.440000	0.560000	0.578882	0.560000	0.550000																										0				24						c.(703-705)gcC>gcT		wingless-type MMTV integration site family, member 7A							109.0	102.0	105.0					3																	13860786		2203	4300	6503	SO:0001819	synonymous_variant	7476	6	121412	36				g.chr3:13860786G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.705C>T	chr3.hg19:g.13860786G>A		0						p.A235A	NM_004625.3	NP_004616.2	0	0	0	1.987976	O00755	WNT7A_HUMAN		4	1009	-			Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	1	1	hg19	c.705C>T	CCDS2616.1	0																																																																																								0.116213		TCGA-HV-A5A5-01A-11D-A26I-08	0.622	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	0	0	1		2	2	2	0		0	0	77		77	76	1	1.930000	-3.208233	1	0.130000	NM_004625			17	17		444	441	0		1	0		0	0	77	0		0.999965	7.909401e-02	0	0	0	12	0	17	444
HRASLS	57110	broad.mit.edu	37	3	192988436	192988436	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr3:192988436T>A	ENST00000602513.1	+	4	858	c.449T>A	c.(448-450)gTt>gAt	p.V150D	HRASLS_ENST00000264735.2_Missense_Mutation_p.V255D			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	150					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ACAGCTGCTGTTGGTGTCTTC	0.378																																						ENST00000602513.1	0.800000	0.280000	0.650000	0.380000	0.500000	0.524492	0.500000	0.490000																										0				10						c.(448-450)gTt>gAt		HRAS-like suppressor							167.0	153.0	158.0					3																	192988436		2203	4300	6503	SO:0001583	missense	57110	0	0					g.chr3:192988436T>A	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.449T>A	chr3.hg19:g.192988436T>A	ENSP00000473258:p.Val150Asp	0					HRASLS_ENST00000264735.2_Missense_Mutation_p.V255D	p.V150D			0	0	0	1.988754	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	4	858	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		D2KX19	Missense_Mutation	SNP	ENST00000602513.1	1	1	hg19	c.449T>A		0	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763169	0.49574	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.64	2.63	0.31362	5.64	2.63	0.31362	.	0.234074	0.43416	D	0.000571	T	0.24967	0.0606	N	0.14661	0.345	0.42689	D	0.99357	P	0.43169	0.8	B	0.32289	0.143	T	0.05801	-1.0863	9	0.54805	T	0.06	-6.1788	10.6667	0.45734	0.0:0.8466:0.0:0.1534	.	150	Q9HDD0	HRSL1_HUMAN	D	150	.	ENSP00000264735:V150D	V	+	2	0	0	HRASLS	194471130	194471130	0.958000	0.32768	0.982000	0.44146	0.968000	0.65278	2.072000	0.41510	0.359000	0.24239	-0.263000	0.10527	GTT	0.117379		TCGA-HV-A5A5-01A-11D-A26I-08	0.378	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	43		43	42	1	1.930000	-13.017070	1	0.130000				13	13		382	374	0		1	0		0	0	43	0		0.999487	1.329063e-03	0	0	0	2	0	13	382
ANK2	287	broad.mit.edu	37	4	114277476	114277476	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:114277476T>G	ENST00000357077.4	+	38	7755	c.7702T>G	c.(7702-7704)Tgt>Ggt	p.C2568G	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.C2535G|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2568					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATTCATGAATGTGCAGAGGA	0.433																																						ENST00000357077.4	1.000000	0.960000	1.000000	0.990000	0.990000	0.997839	0.990000	1.000000																										0				248						c.(7702-7704)Tgt>Ggt		ankyrin 2, neuronal							105.0	108.0	107.0					4																	114277476		2203	4300	6503	SO:0001583	missense	287	0	0					g.chr4:114277476T>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7702T>G	chr4.hg19:g.114277476T>G	ENSP00000349588:p.Cys2568Gly	0					ANK2_ENST00000264366.6_Missense_Mutation_p.C2535G|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.C2568G	NM_001148.4	NP_001139.3	0	0	0	1.984973	Q01484	ANK2_HUMAN		38	7755	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	1	1	hg19	c.7702T>G	CCDS3702.1	1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379860	0.61845	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66815	-0.22;-0.23	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.222920	0.31542	N	0.007467	T	0.69061	0.3069	L	0.60455	1.87	0.80722	D	1	B;P	0.50272	0.001;0.933	B;P	0.49829	0.002;0.623	T	0.69774	-0.5054	9	.	.	.	.	11.6148	0.51083	0.0:0.0:0.2662:0.7338	.	2535;2568	Q01484;Q01484-4	ANK2_HUMAN;.	G	2568;2535	ENSP00000349588:C2568G;ENSP00000264366:C2535G	.	C	+	1	0	0	ANK2	114496925	114496925	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	4.953000	0.63624	2.216000	0.71823	0.533000	0.62120	TGT	0.115044		TCGA-HV-A5A5-01A-11D-A26I-08	0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1		2	2	2	0		0	0	82		82	81	1	1.930000	-20.000000	1	0.130000	NM_001148			53	53		576	569	0		1			0	0	82	0		1.000000	0	0	0	0	0	0	53	576
ANKRD50	57182	broad.mit.edu	37	4	125592599	125592599	+	Silent	SNP	A	A	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:125592599A>G	ENST00000504087.1	-	4	2870	c.1833T>C	c.(1831-1833)ggT>ggC	p.G611G	ANKRD50_ENST00000515641.1_Silent_p.G432G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	611										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATGCTGTCCAACCATCTTGAT	0.453																																						ENST00000504087.1	0.830000	0.350000	0.700000	0.440000	0.560000	0.580667	0.560000	0.560000																										0				55						c.(1831-1833)ggT>ggC		ankyrin repeat domain 50							111.0	103.0	106.0					4																	125592599		2203	4300	6503	SO:0001819	synonymous_variant	57182	0	0					g.chr4:125592599A>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1833T>C	chr4.hg19:g.125592599A>G		0					ANKRD50_ENST00000515641.1_Silent_p.G432G	p.G611G	NM_020337.2	NP_065070.1	0	0	0	1.984973	Q9ULJ7	ANR50_HUMAN		4	2870	-			A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	1	1	hg19	c.1833T>C	CCDS34060.1	0																																																																																								0.115044		TCGA-HV-A5A5-01A-11D-A26I-08	0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	0	0	1		2	2	2	0		0	0	84		84	84	1	1.930000	-18.046860	1	0.130000	NM_020337			19	19		492	485	0		1	0		0	0	84	0		0.999990	1.292811e-01	0	0	0	16	0	19	492
CDKN2AIP	55602	broad.mit.edu	37	4	184368445	184368445	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:184368445C>T	ENST00000504169.1	+	3	1815	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	536	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGTTATTTCTCAAGAAAAAGG	0.383																																						ENST00000504169.1	1.000000	0.730000	1.000000	0.880000	0.990000	0.957813	0.990000	1.000000																										0				6						c.(1606-1608)ctC>ctT		CDKN2A interacting protein							77.0	84.0	81.0					4																	184368445		2203	4300	6503	SO:0001819	synonymous_variant	55602	0	0					g.chr4:184368445C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1608C>T	chr4.hg19:g.184368445C>T		0					CDKN2AIP_ENST00000302350.4_3'UTR	p.L536L	NM_017632.2	NP_060102.1	0	0	0	1.984973	Q9NXV6	CARF_HUMAN		3	1815	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	1	1	hg19	c.1608C>T	CCDS34110.1	1																																																																																								0.115044		TCGA-HV-A5A5-01A-11D-A26I-08	0.383	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	1	0	1		2	2	2	0		0	0	62		62	62	1	1.930000	-3.075755	1	0.130000	NM_017632			33	33		442	441	1		1	1		0	0	62	0		1.000000	9.178054e-01	0	13	0	46	0	33	442
CDH10	1008	broad.mit.edu	37	5	24505322	24505322	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr5:24505322A>G	ENST00000264463.4	-	8	1799	c.1292T>C	c.(1291-1293)aTc>aCc	p.I431T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATGTTAAAGATTCTGTCAAG	0.368										HNSCC(23;0.051)																												ENST00000264463.4	1.000000	0.580000	1.000000	0.760000	0.990000	0.909359	0.990000	1.000000																										0				185						c.(1291-1293)aTc>aCc		cadherin 10, type 2 (T2-cadherin)							99.0	95.0	96.0					5																	24505322		2203	4300	6503	SO:0001583	missense	1008	0	0					g.chr5:24505322A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1292T>C	chr5.hg19:g.24505322A>G	ENSP00000264463:p.Ile431Thr	0	HNSCC(23;0.051)					p.I431T	NM_006727.3	NP_006718.2	1	2	3	2.041932	Q9Y6N8	CAD10_HUMAN		8	1799	-			Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	1	1	hg19	c.1292T>C	CCDS3892.1	1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056941	0.55325	.	.	ENSG00000040731	ENST00000264463	T	0.50548	0.74	5.57	5.57	0.84162	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.053511	0.64402	D	0.000001	T	0.46210	0.1381	L	0.49640	1.575	0.46241	D	0.998949	B	0.21606	0.058	B	0.26202	0.067	T	0.41070	-0.9529	10	0.52906	T	0.07	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	431	Q9Y6N8	CAD10_HUMAN	T	431	ENSP00000264463:I431T	ENSP00000264463:I431T	I	-	2	0	0	CDH10	24541079	24541079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.096000	0.76960	2.102000	0.63906	0.533000	0.62120	ATC	0.141165		TCGA-HV-A5A5-01A-11D-A26I-08	0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1		2	2	2	0		0	0	40		40	40	1	1.930000	-19.534750	1	0.130000	NM_006727			16	16		249	248	0		1	0		0	0	40	0		0.999939	0	0	0	0	1	0	16	249
GPLD1	2822	broad.mit.edu	37	6	24450108	24450108	+	Missense_Mutation	SNP	G	G	A	rs149093201		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:24450108G>A	ENST00000230036.1	-	15	1465	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	452					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGCCAAGGCCGAGCCAAACCG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16847	0.0		0.0	False		,,,				2504	0.0					ENST00000230036.1	1.000000	0.990000	1.000000	0.990000	0.990000	0.999996	0.990000	1.000000																										0				32						c.(1354-1356)tCg>tTg		glycosylphosphatidylinositol specific phospholipase D1		G	LEU/SER	0,4406		0,0,2203	107.0	99.0	101.0		1355	5.1	0.9	6	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPLD1	NM_001503.2	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	452/841	24450108	2,13004	2203	4300	6503	SO:0001583	missense	2822	63	121408	50				g.chr6:24450108G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1355C>T	chr6.hg19:g.24450108G>A	ENSP00000230036:p.Ser452Leu	0						p.S452L	NM_001503.3	NP_001494.2	0	0	0	1.965585	P80108	PHLD_HUMAN		15	1465	-			Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	1	1	hg19	c.1355C>T	CCDS4553.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	20.6	4.024960	0.75390	0.0	2.33E-4	ENSG00000112293	ENST00000230036	T	0.69561	-0.41	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000017	T	0.73946	0.3652	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69439	-0.5145	10	0.18276	T	0.48	-12.1527	18.1339	0.89610	0.0:0.0:1.0:0.0	.	452	P80108	PHLD_HUMAN	L	452	ENSP00000230036:S452L	ENSP00000230036:S452L	S	-	2	0	0	GPLD1	24558087	24558087	1.000000	0.71417	0.934000	0.37439	0.948000	0.59901	6.383000	0.73172	2.368000	0.80403	0.591000	0.81541	TCG	0.106776		TCGA-HV-A5A5-01A-11D-A26I-08	0.622	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	1	0	1		2	2	2	0		0	0	74		74	74	1	1.930000	-3.075738	1	0.130000	NM_001503			46	45		310	310	1		1	0		0	0	74	0		1.000000	0	0	0	0	1	0	46	310
KLHL32	114792	broad.mit.edu	37	6	97424015	97424015	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:97424015C>A	ENST00000369261.4	+	3	529	c.166C>A	c.(166-168)Cac>Aac	p.H56N	KLHL32_ENST00000539200.1_Missense_Mutation_p.H56N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H56N|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	56	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATTCCATGCTCACAAGGCAGT	0.463																																						ENST00000369261.4	1.000000	0.720000	1.000000	0.910000	0.990000	0.967096	0.990000	1.000000																										0				38						c.(166-168)Cac>Aac		kelch-like family member 32							105.0	81.0	89.0					6																	97424015		2203	4300	6503	SO:0001583	missense	114792	0	0					g.chr6:97424015C>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.166C>A	chr6.hg19:g.97424015C>A	ENSP00000358265:p.His56Asn	0					KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Missense_Mutation_p.H56N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H56N	p.H56N	NM_052904.3	NP_443136.2	0	0	0	1.966951	Q96NJ5	KLH32_HUMAN		3	529	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	1	1	hg19	c.166C>A	CCDS5038.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464888	0.84425	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.79141	-1.24;1.22;1.22;-1.24	5.14	5.14	0.70334	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	M	0.89785	3.06	0.80722	D	1	D;P;D;D	0.89917	1.0;0.936;1.0;0.999	D;P;D;D	0.97110	0.999;0.885;1.0;0.995	D	0.91142	0.4946	10	0.87932	D	0	.	18.7846	0.91949	0.0:1.0:0.0:0.0	.	56;56;56;56	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	N	56	ENSP00000358265:H56N;ENSP00000440382:H56N;ENSP00000441527:H56N;ENSP00000358258:H56N	ENSP00000358258:H56N	H	+	1	0	0	KLHL32	97530736	97530736	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.320000	0.79064	2.674000	0.91012	0.591000	0.81541	CAC	0.106776		TCGA-HV-A5A5-01A-11D-A26I-08	0.463	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	1	0	1		2	2	2	0		0	0	64		64	64	1	1.930000	-2.716743	1	0.130000	NM_052904			20	20		239	238	0		1			0	0	64	0		0.999996	0	0	0	0	0	0	20	239
TCP10	6953	broad.mit.edu	37	6	167789546	167789546	+	Missense_Mutation	SNP	C	C	T	rs577395533		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:167789546C>T	ENST00000397829.4	-	6	763	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	TCP10_ENST00000366827.2_Missense_Mutation_p.R199Q	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	226						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TTGCGGACTTCGGGAAGATGG	0.612													c|||	0	0.0	0.0	0.0	5008	,	,		20395	0.0		0.0	False		,,,				2504	0.0					ENST00000397829.4	0.810000	0.130000	0.590000	0.230000	0.390000	0.422908	0.390000	0.340000																										0				18						c.(595-597)cGa>cAa		t-complex 10							39.0	41.0	41.0					6																	167789546		1967	4170	6137	SO:0001583	missense	6953	12	120942	37				g.chr6:167789546C>T	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.596G>A	chr6.hg19:g.167789546C>T	ENSP00000380929:p.Arg199Gln	0					TCP10_ENST00000366827.2_Missense_Mutation_p.R199Q	p.R199Q	NM_004610.3	NP_004601.3	0	0	0	1.966951	Q12799	TCP10_HUMAN		6	763	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	0	1	hg19	c.596G>A	CCDS43527.1	0	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417194	0.25552	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.12361	2.69;2.69	1.65	-1.26	0.09376	1.65	-1.26	0.09376	.	.	.	.	.	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	D;B	0.64830	0.994;0.185	P;B	0.62382	0.901;0.006	T	0.17623	-1.0363	9	0.72032	D	0.01	.	4.5266	0.11985	0.0:0.4475:0.0:0.5525	.	226;226	Q12799;Q12799-2	TCP10_HUMAN;.	Q	199	ENSP00000355792:R199Q;ENSP00000380929:R199Q	ENSP00000355792:R199Q	R	-	2	0	0	TCP10	167709536	167709536	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-2.900000	0.00704	-0.317000	0.08677	0.306000	0.20318	CGA	0.106776		TCGA-HV-A5A5-01A-11D-A26I-08	0.612	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	0	0	0		2	2	2	0		0	0	31		31	34	1	1.930000	-5.888731	1	0.130000	NM_004610			4	4		162	158	0		1			0	0	31	0		0.885531	0	0	0	0	0	0	4	162
CDK6	1021	broad.mit.edu	37	7	92462588	92462589	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:92462588_92462589GC>TT	ENST00000265734.4	-	2	460_461	c.49_50GC>AA	c.(49-51)GCg>AAg	p.A17K	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Missense_Mutation_p.A17K	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	17	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCCGATCTCCGCCACGCATTCG	0.723			T	MLLT10	ALL																																	ENST00000265734.4	1.000000	0.490000|0.500000	1.000000	0.810000|0.830000	0.990000	0.933182|0.935920	0.990000	1.000000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	1021	T	cyclin-dependent kinase 6				L	L	MLLT10		ALL		0				11						c.(49-51)gCg>gAg|c.(49-51)Gcg>Acg		cyclin-dependent kinase 6																																				SO:0001583	missense	1021	0	0					g.chr7:92462588G>T|g.chr7:92462589C>T		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.49_50delinsTT	chr7.hg19:g.92462588_92462589delinsTT	ENSP00000265734:p.Ala17Lys	0					CDK6_ENST00000424848.2_Missense_Mutation_p.A17E|CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Missense_Mutation_p.A17T|CDK6_ENST00000491250.1_5'Flank	p.A17E|p.A17T	NM_001259.6	NP_001250.1	1	2	3	2.046447	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)	2	461|460	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	0	1	hg19	c.50C>A|c.49G>A	CCDS5628.1	1																									5.5	5.5	0.81552																																												0			92300524|92300525														0.142266		TCGA-HV-A5A5-01A-11D-A26I-08	0.723	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2	0	0	1		2	2	2	0		0	0	18		18	17	1	1.930000	-9.778956|-10.160710	1	0.130000				5	5		61|60	61|60	0		1	0		0	0	18	0		0.940062|0.940103	2.480818e-02|2.551819e-02	0	0	0	3	0	5	60
IMPDH1	3614	broad.mit.edu	37	7	128035057	128035057	+	Missense_Mutation	SNP	G	G	A	rs201001000	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:128035057G>A	ENST00000480861.1	-	11	1243	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	IMPDH1_ENST00000378717.4_Missense_Mutation_p.T410M|IMPDH1_ENST00000354269.5_Missense_Mutation_p.T469M|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T369M|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T446M|IMPDH1_ENST00000338791.6_Missense_Mutation_p.T479M|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T443M|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T393M|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T369M	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						AGGGGCCTCCGTAGTGGCGGC	0.642													G|||	5	0.000998403	0.0008	0.0	5008	,	,		17356	0.004		0.0	False		,,,				2504	0.0					ENST00000480861.1	1.000000	0.600000	1.000000	0.740000	0.910000	0.887264	0.910000	1.000000																										0				22						c.(1165-1167)aCg>aTg		IMP (inosine 5'-monophosphate) dehydrogenase 1							45.0	55.0	52.0					7																	128035057		2203	4300	6503	SO:0001583	missense	3614	9	121412	41				g.chr7:128035057G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1166C>T	chr7.hg19:g.128035057G>A	ENSP00000420185:p.Thr389Met	0					IMPDH1_ENST00000354269.5_Missense_Mutation_p.T469M|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T369M|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T443M|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T446M|IMPDH1_ENST00000338791.6_Missense_Mutation_p.T479M|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T393M|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T410M|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T369M	p.T389M	NM_001142574.1	NP_001136046.1	1	2	3	2.046447				11	1243	-				Missense_Mutation	SNP	ENST00000480861.1	1	1	hg19	c.1166C>T	CCDS55161.1	1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	19.24	3.788614	0.70337	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.62	4.62	0.57501	4.62	4.62	0.57501	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;0.998;0.999;0.999;0.996;0.997;0.994	D;D;D;D;D;P;P;P	0.70016	0.967;0.935;0.92;0.955;0.955;0.823;0.889;0.893	D	0.86285	0.1670	10	0.87932	D	0	-11.3859	15.0316	0.71710	0.0:0.0:1.0:0.0	.	446;389;394;410;469;443;479;369	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	M	446;479;369;469;410;443;369;393;389	ENSP00000399400:T446M;ENSP00000345096:T479M;ENSP00000420803:T369M;ENSP00000346219:T469M;ENSP00000367989:T410M;ENSP00000265385:T443M;ENSP00000342438:T369M;ENSP00000417296:T393M;ENSP00000420185:T389M	ENSP00000345096:T479M	T	-	2	0	0	IMPDH1	127822293	127822293	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.218000	0.95166	2.409000	0.81822	0.561000	0.74099	ACG	0.142266		TCGA-HV-A5A5-01A-11D-A26I-08	0.642	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	1	0	1		2	2	2	0		0	0	90		90	90	1	1.930000	-6.281820	1	0.130000	NM_000883			28	28		472	466	1		1	1		0	0	90	0		1.000000	9.440390e-01	0	10	0	73	0	28	472
DOCK8	81704	broad.mit.edu	37	9	428461	428461	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr9:428461C>G	ENST00000453981.1	+	35	4550	c.4438C>G	c.(4438-4440)Cac>Gac	p.H1480D	DOCK8_ENST00000469391.1_Missense_Mutation_p.H1380D|DOCK8_ENST00000432829.2_Missense_Mutation_p.H1412D|DOCK8_ENST00000382329.1_Missense_Mutation_p.H947D			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1480					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTACCTGACTCACTGCTTTGC	0.483																																						ENST00000453981.1	1.000000	0.550000	1.000000	0.750000	0.990000	0.908943	0.990000	1.000000																										0				65						c.(4438-4440)Cac>Gac		dedicator of cytokinesis 8							158.0	126.0	137.0					9																	428461		2203	4300	6503	SO:0001583	missense	81704	0	0					g.chr9:428461C>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4438C>G	chr9.hg19:g.428461C>G	ENSP00000408464:p.His1480Asp	0					DOCK8_ENST00000432829.2_Missense_Mutation_p.H1412D|DOCK8_ENST00000382329.1_Missense_Mutation_p.H947D|DOCK8_ENST00000469391.1_Missense_Mutation_p.H1380D	p.H1480D			1	2	3	2.031232	Q8NF50	DOCK8_HUMAN		35	4550	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	1	1	hg19	c.4438C>G	CCDS6440.2	1	.	.	.	.	.	.	.	.	.	.	C	32	5.175582	0.94807	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.65	5.65	0.86999	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	M	0.89904	3.07	0.80722	D	1	D;D;D	0.58970	0.984;0.984;0.967	P;P;P	0.59221	0.805;0.854;0.808	D	0.85234	0.1034	10	0.72032	D	0.01	.	19.713	0.96103	0.0:1.0:0.0:0.0	.	1380;947;1480	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	D	1480;1448;1412;1380;947	ENSP00000408464:H1480D;ENSP00000394888:H1412D;ENSP00000419438:H1380D;ENSP00000371766:H947D	ENSP00000287364:H1448D	H	+	1	0	0	DOCK8	418461	418461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.648000	0.89879	0.650000	0.86243	CAC	0.138955		TCGA-HV-A5A5-01A-11D-A26I-08	0.483	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	1	0	1		2	2	2	0		0	0	35		35	35	1	1.930000	-2.967499	1	0.130000	XM_036307			12	12		181	180	0		1	0		0	0	35	0		0.999183	4.287952e-01	0	0	0	21	0	12	181
KIF24	347240	broad.mit.edu	37	9	34311094	34311094	+	Missense_Mutation	SNP	C	C	T	rs369743252		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr9:34311094C>T	ENST00000402558.2	-	1	275	c.251G>A	c.(250-252)cGc>cAc	p.R84H	KIF24_ENST00000345050.2_Missense_Mutation_p.R84H|KIF24_ENST00000379174.3_Missense_Mutation_p.R84H|KIF24_ENST00000379166.2_Missense_Mutation_p.R84H			Q5T7B8	KIF24_HUMAN	kinesin family member 24	84					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGATTTGATGCGCAGGCTGCT	0.418																																						ENST00000402558.2	1.000000	0.760000	1.000000	0.990000	0.990000	0.980917	0.990000	1.000000																										0				32						c.(250-252)cGc>cAc		kinesin family member 24							98.0	89.0	92.0					9																	34311094		1913	4123	6036	SO:0001583	missense	347240	10	120860	41				g.chr9:34311094C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.251G>A	chr9.hg19:g.34311094C>T	ENSP00000384433:p.Arg84His	0					KIF24_ENST00000345050.2_Missense_Mutation_p.R84H|KIF24_ENST00000379166.2_Missense_Mutation_p.R84H|KIF24_ENST00000379174.3_Missense_Mutation_p.R84H	p.R84H			1	2	3	2.031232	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	1	275	-			Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	0	1	hg19	c.251G>A	CCDS6551.2	1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.298945	0.00243	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.33	-3.11	0.05299	5.33	-3.11	0.05299	.	1.777690	0.03267	N	0.184207	T	0.06142	0.0159	N	0.03608	-0.345	0.09310	N	1	B;B	0.26258	0.145;0.054	B;B	0.14023	0.01;0.004	T	0.24225	-1.0166	10	0.15952	T	0.53	.	4.7677	0.13141	0.1156:0.463:0.1071:0.3143	.	84;84	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	H	84	ENSP00000384433:R84H;ENSP00000368472:R84H;ENSP00000368464:R84H;ENSP00000340179:R84H	ENSP00000340179:R84H	R	-	2	0	0	KIF24	34301094	34301094	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.077000	0.11394	-0.464000	0.06963	-0.312000	0.09012	CGC	0.138955		TCGA-HV-A5A5-01A-11D-A26I-08	0.418	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5	1	0	1		2	2	2	0		0	0	16		16	16	1	1.930000	-6.697247	1	0.130000				14	14		155	155	0		1	0		0	0	16	0		0.999796	0	0	0	0	1	0	14	155
PHKA2	5256	broad.mit.edu	37	X	18956750	18956750	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:18956750C>G	ENST00000379942.4	-	10	1701	c.1036G>C	c.(1036-1038)Gtt>Ctt	p.V346L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	346					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTCACCTGAACAGCATCACCA	0.368																																						ENST00000379942.4	1.000000	0.920000	1.000000	0.990000	0.990000	0.995721	0.990000	1.000000																										0				61						c.(1036-1038)Gtt>Ctt		phosphorylase kinase, alpha 2 (liver)							110.0	102.0	104.0					X																	18956750		2203	4300	6503	SO:0001583	missense	5256	0	0					g.chrX:18956750C>G		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1036G>C	chrX.hg19:g.18956750C>G	ENSP00000369274:p.Val346Leu							p.V346L	NM_000292.2	NP_000283.1	0	1	1		P46019	KPB2_HUMAN		10	1701	-	Hepatocellular(33;0.183)		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	1	1	hg19	c.1036G>C	CCDS14190.1	1	.	.	.	.	.	.	.	.	.	.	c	13.19	2.163684	0.38217	.	.	ENSG00000044446	ENST00000379942	D	0.92805	-3.11	4.53	3.65	0.41850	4.53	3.65	0.41850	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.184470	0.46145	N	0.000306	D	0.85457	0.5701	L	0.38175	1.15	0.38841	D	0.956057	B	0.02656	0.0	B	0.08055	0.003	T	0.78961	-0.1997	10	0.41790	T	0.15	-9.3948	6.1366	0.20237	0.0:0.6738:0.1786:0.1476	.	346	P46019	KPB2_HUMAN	L	346	ENSP00000369274:V346L	ENSP00000369274:V346L	V	-	1	0	0	PHKA2	18866671	18866671	0.974000	0.33945	0.709000	0.30452	0.843000	0.47879	3.060000	0.49955	0.809000	0.34255	0.597000	0.82753	GTT	0.130000		TCGA-HV-A5A5-01A-11D-A26I-08	0.368	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	1	0	1		2	2	2	0		0	0	47		47	47	1	1.930000	-20.000000	1	0.130000	NM_000292			36	36		392	387	0		1	0		0	0	47	0		1.000000	3.415070e-01	0	0	0	14	0	36	392
MAP3K15	389840	broad.mit.edu	37	X	19392682	19392682	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:19392682G>A	ENST00000338883.4	-	20	2685	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R728C|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R331C|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	896	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTGGTGGCACGTTTGTGGGGG	0.537													G|||	1	0.000264901	0.0	0.0	3775	,	,		14922	0.001		0.0	False		,,,				2504	0.0					ENST00000338883.4	1.000000	0.700000	1.000000	0.860000	0.990000	0.951523	0.990000	1.000000																										0				42						c.(2686-2688)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 15							128.0	101.0	110.0					X																	19392682		2203	4300	6503	SO:0001583	missense	389840	1	121410	35				g.chrX:19392682G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2686C>T	chrX.hg19:g.19392682G>A	ENSP00000345629:p.Arg896Cys						MAP3K15_ENST00000359173.3_Missense_Mutation_p.R331C|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R728C|Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000518578.1_5'UTR	p.R896C	NM_001001671.3	NP_001001671.3	0	1	1		Q6ZN16	M3K15_HUMAN		20	2685	-	Hepatocellular(33;0.183)		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	1	1	hg19	c.2686C>T		1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570696	0.65765	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72051	-0.62;-0.62;-0.62	5.56	5.56	0.83823	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92087	0.7492	H	0.99752	4.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95672	0.8724	10	0.87932	D	0	.	18.8298	0.92133	0.0:0.0:1.0:0.0	.	371;896	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	C	896;331;728	ENSP00000345629:R896C;ENSP00000352093:R331C;ENSP00000428356:R728C	ENSP00000345629:R896C	R	-	1	0	0	MAP3K15	19302603	19302603	1.000000	0.71417	0.238000	0.24106	0.532000	0.34746	4.772000	0.62324	2.479000	0.83701	0.600000	0.82982	CGT	0.130000		TCGA-HV-A5A5-01A-11D-A26I-08	0.537	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	75		75	75	1	1.930000	-20.000000	1	0.130000	NM_001001671			26	26		355	350	0		1	0		0	0	75	0		1.000000	5.113636e-03	0	0	0	2	0	26	355
GPR174	84636	broad.mit.edu	37	X	78426854	78426854	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:78426854T>A	ENST00000276077.1	+	1	386	c.350T>A	c.(349-351)tTt>tAt	p.F117Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTGCGACGATTTTGGTTTCTC	0.468										HNSCC(63;0.18)																												ENST00000276077.1	1.000000	0.920000	1.000000	0.990000	0.990000	0.995207	0.990000	1.000000																										0				38						c.(349-351)tTt>tAt		G protein-coupled receptor 174							216.0	191.0	200.0					X																	78426854		2203	4300	6503	SO:0001583	missense	84636	0	0					g.chrX:78426854T>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.350T>A	chrX.hg19:g.78426854T>A	ENSP00000276077:p.Phe117Tyr		HNSCC(63;0.18)					p.F117Y	NM_032553.1	NP_115942.1	0	1	1		Q9BXC1	GP174_HUMAN		1	386	+			Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	1	1	hg19	c.350T>A	CCDS14443.1	1	.	.	.	.	.	.	.	.	.	.	t	5.465	0.270931	0.10349	.	.	ENSG00000147138	ENST00000276077	T	0.41065	1.01	5.13	5.13	0.70059	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.056736	0.64402	D	0.000001	T	0.22126	0.0533	N	0.16567	0.415	0.33746	D	0.620086	B	0.09022	0.002	B	0.18871	0.023	T	0.23833	-1.0177	10	0.02654	T	1	.	8.9269	0.35646	0.1684:0.0:0.0:0.8315	.	117	Q9BXC1	GP174_HUMAN	Y	117	ENSP00000276077:F117Y	ENSP00000276077:F117Y	F	+	2	0	0	GPR174	78313510	78313510	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.473000	0.53122	1.697000	0.51169	0.433000	0.28618	TTT	0.130000		TCGA-HV-A5A5-01A-11D-A26I-08	0.468	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	1	0	1		2	2	2	0		0	0	112		112	112	1	1.930000	-20.000000	1	0.130000	NM_032553			60	59		714	709	0		1	0		0	0	112	0		1.000000	0	0	0	0	1	0	60	714
POF1B	79983	broad.mit.edu	37	X	84560887	84560887	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:84560887C>T	ENST00000262753.4	-	13	1492	c.1347G>A	c.(1345-1347)ttG>ttA	p.L449L	POF1B_ENST00000373145.3_Silent_p.L449L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	449						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTTAGCCTGCAACATTGGGC	0.388																																						ENST00000262753.4	1.000000	0.630000	1.000000	0.770000	0.930000	0.902860	0.930000	1.000000																										0				35						c.(1345-1347)ttG>ttA		premature ovarian failure, 1B							167.0	142.0	150.0					X																	84560887		2203	4300	6503	SO:0001819	synonymous_variant	79983	0	0					g.chrX:84560887C>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1347G>A	chrX.hg19:g.84560887C>T							POF1B_ENST00000373145.3_Silent_p.L449L	p.L449L	NM_024921.3	NP_079197.3	0	1	1		Q8WVV4	POF1B_HUMAN		13	1492	-			A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	1	1	hg19	c.1347G>A	CCDS14452.1	1																																																																																								0.130000		TCGA-HV-A5A5-01A-11D-A26I-08	0.388	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	1	0	1		2	2	2	0		0	0	55		55	55	1	1.930000	-6.759467	1	0.130000	NM_024921			27	27		417	411	0		1	1		0	0	55	0		1.000000	3.359192e-01	0	5	0	14	0	27	417
