#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ACAP3	116983	broad.mit.edu	37	1	1235355	1235355	+	Missense_Mutation	SNP	C	C	T	rs12409951		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:1235355C>T	ENST00000354700.5	-	8	863	c.661G>A	c.(661-663)Gag>Aag	p.E221K	ACAP3_ENST00000353662.3_Missense_Mutation_p.E179K|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	221					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.E221K(1)|p.E179K(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGGCTCACCTCGGCTGCCAGC	0.642																																						uc001aeb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(661-663)GAG>AAG		ArfGAP with coiled-coil, ankyrin repeat and PH		C	LYS/GLU	2,4394	4.2+/-10.8	0,2,2196	27.0	29.0	28.0		661	2.5	0.8	1	dbSNP_120	28	0,8588		0,0,4294	no	missense	ACAP3	NM_030649.2	56	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging	221/835	1235355	2,12982	2198	4294	6492	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1235355C>T	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.661G>A	1.37:g.1235355C>T	ENSP00000346733:p.Glu221Lys					ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.E179K|ACAP3_uc001aec.1_Missense_Mutation_p.E179K	p.E221K	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			8	735	-			221					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.661G>A	CCDS19.2	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306827	0.23821	4.55E-4	0.0	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.04194	3.68;3.68	3.44	2.5	0.30297	.	0.127483	0.51477	D	0.000100	T	0.08133	0.0203	L	0.56769	1.78	0.31905	N	0.615506	P;P;P	0.46512	0.879;0.765;0.854	P;B;B	0.44597	0.454;0.085;0.173	T	0.08911	-1.0699	10	0.41790	T	0.15	.	13.3952	0.60849	0.0:0.8398:0.1602:0.0	.	261;221;179	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	K	221;179	ENSP00000346733:E221K;ENSP00000321139:E179K	ENSP00000321139:E179K	E	-	1	0	ACAP3	1225218	0.986000	0.35501	0.762000	0.31397	0.012000	0.07955	2.711000	0.47177	1.001000	0.39076	-0.479000	0.04858	GAG		PASS	0.642	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		8	36	8	36	---	---	---	---
MORN1	79906	broad.mit.edu	37	1	2290142	2290142	+	Missense_Mutation	SNP	C	C	A	rs542779430		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:2290142C>A	ENST00000378531.3	-	9	931	c.758G>T	c.(757-759)cGg>cTg	p.R253L	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.R253L	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	253								p.R253L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CTGCAGGACCCGGCCGCTCTC	0.612																																						uc001ajb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(757-759)CGG>CTG		MORN repeat containing 1							69.0	65.0	67.0					1																	2290142		2203	4300	6503	SO:0001583	missense	79906							g.chr1:2290142C>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.758G>T	1.37:g.2290142C>A	ENSP00000367792:p.Arg253Leu					MORN1_uc009vld.2_Missense_Mutation_p.R229L|MORN1_uc001ajd.1_Missense_Mutation_p.R253L	p.R253L	NM_024848	NP_079124	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	9	779	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	253					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.758G>T	CCDS40.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213938	0.39102	.	.	ENSG00000116151	ENST00000378531;ENST00000378529	T;T	0.61510	0.25;0.1	4.47	3.55	0.40652	.	0.000000	0.52532	D	0.000064	T	0.71643	0.3364	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.72721	-0.4208	10	0.62326	D	0.03	.	8.5041	0.33177	0.0:0.8931:0.0:0.1069	.	253;253	Q5T089-2;Q5T089	.;MORN1_HUMAN	L	253	ENSP00000367792:R253L;ENSP00000367790:R253L	ENSP00000367790:R253L	R	-	2	0	MORN1	2280002	0.949000	0.32298	0.839000	0.33178	0.009000	0.06853	2.063000	0.41423	1.231000	0.43661	-0.251000	0.11542	CGG		PASS	0.612	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		18	12	18	12	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37324827	37324827	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:37324827G>A	ENST00000373091.3	-	7	1002	c.986C>T	c.(985-987)gCc>gTc	p.A329V	GRIK3_ENST00000462621.1_5'Flank|GRIK3_ENST00000373093.4_Missense_Mutation_p.A329V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	329					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.A329V(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GATATGGACGGCGTCGTACAG	0.652																																						uc001caz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(985-987)GCC>GTC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						136.0	115.0	123.0					1																	37324827		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37324827G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.986C>T	1.37:g.37324827G>A	ENSP00000362183:p.Ala329Val					GRIK3_uc001cba.1_Missense_Mutation_p.A329V	p.A329V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			7	1121	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	329			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.986C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192039	0.94923	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.41065	1.01;1.01	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67103	0.949;0.927	T	0.75306	-0.3364	10	0.87932	D	0	.	19.7849	0.96432	0.0:0.0:1.0:0.0	.	329;329	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	329	ENSP00000362183:A329V;ENSP00000362185:A329V	ENSP00000362183:A329V	A	-	2	0	GRIK3	37097414	1.000000	0.71417	0.682000	0.30024	0.631000	0.37964	9.470000	0.97683	2.671000	0.90904	0.650000	0.86243	GCC		PASS	0.652	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		63	57	63	57	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39797830	39797830	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:39797830G>A	ENST00000372915.3	+	36	5672	c.5585G>A	c.(5584-5586)gGa>gAa	p.G1862E	MACF1_ENST00000567887.1_Missense_Mutation_p.G1894E|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G297E|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.G1857E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1862					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.G297E(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTGAATCTGGAGAGATCCTC	0.448																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(889-891)GGA>GAA		microfilament and actin filament cross-linker							119.0	116.0	117.0					1																	39797830		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797830G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5585G>A	1.37:g.39797830G>A	ENSP00000362006:p.Gly1862Glu					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.G297E	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1021	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1862			Plectin 5.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.890G>A		.	.	.	.	.	.	.	.	.	.	G	15.44	2.834200	0.50951	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.79247	-1.25;-1.25	5.34	5.34	0.76211	.	0.000000	0.51477	D	0.000086	D	0.88089	0.6343	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87471	0.2414	10	0.44086	T	0.13	.	19.0508	0.93043	0.0:0.0:1.0:0.0	.	1862	Q9UPN3	MACF1_HUMAN	E	1862;297	ENSP00000362006:G1862E;ENSP00000289893:G297E	ENSP00000289893:G297E	G	+	2	0	MACF1	39570417	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.968000	0.87980	2.510000	0.84645	0.555000	0.69702	GGA		PASS	0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		92	88	92	88	---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57224416	57224416	+	Silent	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:57224416A>G	ENST00000343433.6	-	6	1151	c.1071T>C	c.(1069-1071)taT>taC	p.Y357Y	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	357								p.Y357Y(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCCAACTTCATAAGTTGCTA	0.318																																						uc001cym.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(1069-1071)TAT>TAC		hypothetical protein LOC199920							50.0	49.0	50.0					1																	57224416		2203	4295	6498	SO:0001819	synonymous_variant	199920							g.chr1:57224416A>G	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1071T>C	1.37:g.57224416A>G						C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.2_RNA	p.Y357Y	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			6	1477	-			357					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.1071T>C	CCDS30729.1																																																																																				PASS	0.318	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		17	37	17	37	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74648474	74648474	+	Silent	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:74648474A>G	ENST00000395089.1	-	2	320	c.321T>C	c.(319-321)aaT>aaC	p.N107N	LRRIQ3_ENST00000370911.3_Silent_p.N107N|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Silent_p.N107N			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	107								p.N107N(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTGCAAACCCATTGTCATGAA	0.308																																						uc001dfy.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(319-321)AAT>AAC		leucine-rich repeats and IQ motif containing 3							67.0	66.0	66.0					1																	74648474		2203	4299	6502	SO:0001819	synonymous_variant	127255							g.chr1:74648474A>G	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.321T>C	1.37:g.74648474A>G						LRRIQ3_uc001dfz.3_RNA	p.N107N	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			3	513	-			107			LRR 3.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.321T>C	CCDS41350.1																																																																																				PASS	0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		31	77	31	77	---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155156413	155156413	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:155156413G>T	ENST00000334634.4	+	10	2027	c.2027G>T	c.(2026-2028)aGg>aTg	p.R676M	TRIM46_ENST00000392451.2_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Missense_Mutation_p.R550M|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.R653M|MUC1_ENST00000462215.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	676	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R676M(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGACAGGGAGGGATGGCCCC	0.657																																						uc001fhs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2026-2028)AGG>ATG		tripartite motif-containing 46							70.0	70.0	70.0					1																	155156413		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156413G>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2027G>T	1.37:g.155156413G>T	ENSP00000334657:p.Arg676Met					RAG1AP1_uc010pey.1_Intron|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R550M|TRIM46_uc001fhu.1_Missense_Mutation_p.R653M|TRIM46_uc001fhw.1_RNA	p.R676M	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		10	2110	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		676			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.2027G>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574793	0.28092	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.61040	0.14;0.14;0.14	4.19	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.548616	0.17841	N	0.160210	T	0.29256	0.0728	N	0.14661	0.345	0.35235	D	0.777281	P	0.45634	0.863	B	0.41466	0.358	T	0.31364	-0.9946	10	0.52906	T	0.07	.	14.4025	0.67056	0.0:0.0:1.0:0.0	.	676	Q7Z4K8	TRI46_HUMAN	M	634;550;653;676	ENSP00000440254:R550M;ENSP00000357366:R653M;ENSP00000334657:R676M	ENSP00000334657:R676M	R	+	2	0	TRIM46	153423037	1.000000	0.71417	0.997000	0.53966	0.180000	0.23129	5.141000	0.64814	2.065000	0.61736	0.313000	0.20887	AGG		PASS	0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		25	36	25	36	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151513	158151513	+	Splice_Site	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:158151513T>C	ENST00000368171.3	+	3	827		c.e3+2			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule						antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCTTATCCTGTGAGCTGAGGG	0.542																																						uc001frr.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e3+2		CD1D antigen precursor							39.0	41.0	40.0					1																	158151513		2201	4299	6500	SO:0001630	splice_region_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151513T>C	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.328+2T>C	1.37:g.158151513T>C						CD1D_uc009wsr.1_Splice_Site_p.Y110_splice|CD1D_uc009wss.2_Splice_Site_p.Y110_splice|CD1D_uc009wst.1_Splice_Site_p.Y6_splice	p.Y110_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN			3	827	+	all_hematologic(112;0.0378)							D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Splice_Site	SNP	ENST00000368171.3	37	c.328_splice	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866755	0.51588	.	.	ENSG00000158473	ENST00000368171	.	.	.	4.33	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4109	0.21690	0.0:0.1119:0.0:0.8881	.	.	.	.	.	-1	.	.	.	+	.	.	CD1D	156418137	1.000000	0.71417	0.967000	0.41034	0.419000	0.31324	1.023000	0.30065	0.802000	0.34089	0.533000	0.62120	.		PASS	0.542	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	Intron	22	50	22	50	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161168117	161168117	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:161168117C>G	ENST00000367996.5	-	1	729	c.301G>C	c.(301-303)Ggt>Cgt	p.G101R	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G101R|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	101					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.G101R(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	ACCTGCACACCGGAGTCCTGC	0.667																																						uc001fyt.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(301-303)GGT>CGT		ADAM metallopeptidase with thrombospondin type 1							29.0	27.0	28.0					1																	161168117		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161168117C>G	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.301G>C	1.37:g.161168117C>G	ENSP00000356975:p.Gly101Arg					ADAMTS4_uc001fyu.2_Missense_Mutation_p.G101R|NDUFS2_uc001fyv.2_5'Flank	p.G101R	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	729	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		101					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.301G>C	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630687	0.46944	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.06933	3.24;3.24	5.58	5.58	0.84498	Peptidase M12B, propeptide (1);	0.090665	0.47093	D	0.000250	T	0.07503	0.0189	L	0.38175	1.15	0.39400	D	0.966577	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.972	T	0.32693	-0.9897	10	0.09084	T	0.74	.	8.6507	0.34033	0.0:0.8373:0.0:0.1627	.	101;101	Q5VTW1;O75173	.;ATS4_HUMAN	R	101	ENSP00000356975:G101R;ENSP00000356974:G101R	ENSP00000356974:G101R	G	-	1	0	ADAMTS4	159434741	0.071000	0.21146	0.507000	0.27676	0.574000	0.36063	1.400000	0.34577	2.630000	0.89119	0.491000	0.48974	GGT		PASS	0.667	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		13	30	13	30	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179084073	179084073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:179084073C>A	ENST00000502732.1	-	9	1704	c.1501G>T	c.(1501-1503)Gga>Tga	p.G501*	ABL2_ENST00000511413.1_Nonsense_Mutation_p.G501*|ABL2_ENST00000392043.3_Nonsense_Mutation_p.G480*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.G486*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.G465*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.G486*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.G480*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.G480*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.G465*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	501	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.G486*(1)|p.G501*(1)|p.G465*(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ATTCGATATCCTTTTTCTAGT	0.408			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		3	Substitution - Nonsense(3)		lung(3)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1501-1503)GGA>TGA		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						123.0	124.0	124.0					1																	179084073		2203	4300	6503	SO:0001587	stop_gained	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084073C>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1501G>T	1.37:g.179084073C>A	ENSP00000427562:p.Gly501*					ABL2_uc010pnf.1_Nonsense_Mutation_p.G501*|ABL2_uc010png.1_Nonsense_Mutation_p.G480*|ABL2_uc010pnh.1_Nonsense_Mutation_p.G480*|ABL2_uc009wxe.2_Nonsense_Mutation_p.G480*|ABL2_uc001gmg.3_Nonsense_Mutation_p.G486*|ABL2_uc001gmi.3_Nonsense_Mutation_p.G486*|ABL2_uc001gmh.3_Nonsense_Mutation_p.G465*|ABL2_uc010pne.1_Nonsense_Mutation_p.G465*	p.G501*	NM_007314	NP_009298	P42684	ABL2_HUMAN			9	1788	-			501			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.1501G>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870098	0.97901	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	.	.	.	5.99	5.99	0.97316	.	0.000000	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4456	0.94845	0.0:1.0:0.0:0.0	.	.	.	.	X	501;465;486;486;465;480;480;501;480	.	ENSP00000339209:G486X	G	-	1	0	ABL2	177350696	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.760000	0.85248	2.843000	0.97960	0.591000	0.81541	GGA		PASS	0.408	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		43	150	43	150	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216850454	216850454	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:216850454C>T	ENST00000408911.3	-	2	589	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	ESRRG_ENST00000359162.2_Missense_Mutation_p.E123K|ESRRG_ENST00000366940.2_Missense_Mutation_p.E123K|ESRRG_ENST00000487276.1_Missense_Mutation_p.E123K|ESRRG_ENST00000493603.1_Missense_Mutation_p.E123K|ESRRG_ENST00000463665.1_Missense_Mutation_p.E123K|ESRRG_ENST00000366938.2_Missense_Mutation_p.E123K|ESRRG_ENST00000493748.1_Missense_Mutation_p.E123K|ESRRG_ENST00000361395.2_Missense_Mutation_p.E123K|ESRRG_ENST00000391890.3_Missense_Mutation_p.E123K|ESRRG_ENST00000366937.1_Missense_Mutation_p.E151K|ESRRG_ENST00000361525.3_Missense_Mutation_p.E123K|ESRRG_ENST00000360012.3_Missense_Mutation_p.E123K	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	146					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E146K(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTGCAGGCTTCACATGATGCT	0.478																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(436-438)GAA>AAA		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						132.0	115.0	121.0					1																	216850454		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850454C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.436G>A	1.37:g.216850454C>T	ENSP00000386171:p.Glu146Lys					ESRRG_uc001hky.1_Missense_Mutation_p.E123K|ESRRG_uc009xdp.1_Missense_Mutation_p.E123K|ESRRG_uc001hkz.1_Missense_Mutation_p.E123K|ESRRG_uc010puc.1_Missense_Mutation_p.E123K|ESRRG_uc001hla.1_Missense_Mutation_p.E123K|ESRRG_uc001hlb.1_Missense_Mutation_p.E123K|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.E123K|ESRRG_uc001hld.1_Missense_Mutation_p.E123K|ESRRG_uc001hkx.1_Missense_Mutation_p.E151K|ESRRG_uc009xdo.1_Missense_Mutation_p.E123K|ESRRG_uc001hle.1_Missense_Mutation_p.E123K	p.E146K	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	602	-			146			Nuclear receptor.|NR C4-type.		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.436G>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620209	0.96660	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69	6.01	6.01	0.97437	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98679	0.9557	M	0.76574	2.34	0.80722	D	1	D;D;D	0.69078	0.993;0.974;0.997	D;D;D	0.79108	0.951;0.969;0.992	D	0.99445	1.0939	10	0.87932	D	0	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	123;151;146	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	K	123;123;151;146;123;123;123;123;123;123;123;123;123;123;123	ENSP00000355225:E123K;ENSP00000355907:E123K;ENSP00000355904:E151K;ENSP00000386171:E146K;ENSP00000352077:E123K;ENSP00000354584:E123K;ENSP00000355905:E123K;ENSP00000353108:E123K;ENSP00000419594:E123K;ENSP00000375761:E123K;ENSP00000418629:E123K;ENSP00000419155:E123K;ENSP00000417374:E123K;ENSP00000419514:E123K	ENSP00000346386:E123K	E	-	1	0	ESRRG	214917077	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GAA		PASS	0.478	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		8	91	8	91	---	---	---	---
PLD5	200150	broad.mit.edu	37	1	242287914	242287914	+	Silent	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:242287914T>C	ENST00000536534.2	-	6	1030	c.789A>G	c.(787-789)ttA>ttG	p.L263L	PLD5_ENST00000427495.1_Silent_p.L201L|PLD5_ENST00000442594.2_Silent_p.L171L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	263						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.L263L(1)|p.L171L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATATCCTTTGTAAATCTAGGA	0.368																																						uc001hzn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)	6						c.(787-789)TTA>TTG		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							87.0	88.0	88.0					1																	242287914		2203	4300	6503	SO:0001819	synonymous_variant	200150					integral to membrane	catalytic activity	g.chr1:242287914T>C	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.789A>G	1.37:g.242287914T>C						PLD5_uc001hzl.3_Silent_p.L201L|PLD5_uc001hzm.3_Silent_p.L53L|PLD5_uc001hzo.1_Silent_p.L171L	p.L263L			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		6	916	-	Melanoma(84;0.242)		263					A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	c.789A>G	CCDS1621.2																																																																																				PASS	0.368	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		26	100	26	100	---	---	---	---
ZNF496	84838	broad.mit.edu	37	1	247464506	247464506	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:247464506G>C	ENST00000294753.4	-	9	1543	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C	ZNF496_ENST00000366498.2_Missense_Mutation_p.S396C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	360					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S360C(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTCGTCCCCAGAGCTGGAGAG	0.627																																						uc001ico.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1078-1080)TCT>TGT		zinc finger protein 496							60.0	68.0	65.0					1																	247464506		2192	4274	6466	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464506G>C	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1079C>G	1.37:g.247464506G>C	ENSP00000294753:p.Ser360Cys					ZNF496_uc009xgv.2_Missense_Mutation_p.S396C|ZNF496_uc001icp.2_Missense_Mutation_p.S360C	p.S360C	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1544	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		360					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1079C>G	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930895	0.52866	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08008	3.15;3.14	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000062	T	0.16727	0.0402	L	0.32530	0.975	0.28841	N	0.896587	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.981	T	0.01266	-1.1401	10	0.46703	T	0.11	-19.7631	10.475	0.44659	0.0:0.0:0.8061:0.1939	.	396;360	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	C	360;396	ENSP00000294753:S360C;ENSP00000355454:S396C	ENSP00000294753:S360C	S	-	2	0	ZNF496	245531129	0.829000	0.29322	0.996000	0.52242	0.669000	0.39330	1.871000	0.39539	2.584000	0.87258	0.655000	0.94253	TCT		PASS	0.627	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		6	100	6	100	---	---	---	---
HADHA	3030	broad.mit.edu	37	2	26418042	26418042	+	Silent	SNP	C	C	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:26418042C>G	ENST00000380649.3	-	15	1668	c.1539G>C	c.(1537-1539)acG>acC	p.T513T		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	513					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.T513T(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCTCGGTCGTGATAATCT	0.507																																						uc002rgy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1537-1539)ACG>ACC		mitochondrial trifunctional protein, alpha	NADH(DB00157)						102.0	102.0	102.0					2																	26418042		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26418042C>G	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1539G>C	2.37:g.26418042C>G						HADHA_uc010yks.1_Silent_p.T426T	p.T513T	NM_000182	NP_000173	P40939	ECHA_HUMAN			15	1669	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		513					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.1539G>C	CCDS1721.1																																																																																				PASS	0.507	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		41	91	41	91	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27480855	27480855	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:27480855C>T	ENST00000233535.4	-	4	848	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.V161I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	166					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.V166I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGGCGGACGAAGGCCAGG	0.627																																						uc002rjk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)GTC>ATC		solute carrier family 30 (zinc transporter),							62.0	66.0	65.0					2																	27480855		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480855C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.496G>A	2.37:g.27480855C>T	ENSP00000233535:p.Val166Ile					SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Missense_Mutation_p.V161I	p.V166I	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			4	682	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		166			Helical; (Potential).		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.496G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899261	0.52227	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.34	-8.51	0.00923	.	0.643861	0.16590	N	0.207797	T	0.28167	0.0695	N	0.05259	-0.085	0.22292	N	0.999223	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34551	-0.9824	10	0.13470	T	0.59	-8.537	10.1596	0.42844	0.0:0.4376:0.4075:0.155	.	161;166	F5H3B7;Q99726	.;ZNT3_HUMAN	I	166;161;117;153;144	ENSP00000233535:V166I;ENSP00000415226:V161I;ENSP00000414320:V117I;ENSP00000393545:V153I;ENSP00000403959:V144I	ENSP00000233535:V166I	V	-	1	0	SLC30A3	27334359	0.825000	0.29262	0.932000	0.37286	0.992000	0.81027	-0.042000	0.12063	-1.101000	0.03027	-0.367000	0.07326	GTC		PASS	0.627	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			18	32	18	32	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27672642	27672642	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:27672642T>C	ENST00000260570.3	-	37	4179	c.4076A>G	c.(4075-4077)gAc>gGc	p.D1359G		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1359					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.D1359G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTTGACAAGGTCCAGATTCAG	0.522																																						uc002rku.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(4075-4077)GAC>GGC		selective LIM binding factor homolog							132.0	124.0	127.0					2																	27672642		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27672642T>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4076A>G	2.37:g.27672642T>C	ENSP00000260570:p.Asp1359Gly					IFT172_uc010ezb.2_RNA	p.D1359G	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			37	4127	-	Acute lymphoblastic leukemia(172;0.155)		1359			TPR 11.		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4076A>G	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.893467	0.91889	.	.	ENSG00000138002	ENST00000260570	T	0.70399	-0.48	5.53	5.53	0.82687	.	0.048629	0.85682	D	0.000000	T	0.80237	0.4586	M	0.68952	2.095	0.80722	D	1	D	0.61080	0.989	P	0.62382	0.901	T	0.79082	-0.1949	10	0.33940	T	0.23	-18.1209	14.458	0.67431	0.0:0.0:0.0:1.0	.	1359	Q9UG01	IF172_HUMAN	G	1359	ENSP00000260570:D1359G	ENSP00000260570:D1359G	D	-	2	0	IFT172	27526146	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.281000	0.78621	2.100000	0.63781	0.402000	0.26972	GAC		PASS	0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		45	102	45	102	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40401975	40401975	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:40401975G>T	ENST00000403092.1	-	5	1977	c.1944C>A	c.(1942-1944)ttC>ttA	p.F648L	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F640L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.F640L|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F640L|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F648L|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F648L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F640L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F648L|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F640L|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	648					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.F648L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGTTATTGTGAAGCCACCTA	0.313																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1942-1944)TTC>TTA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						48.0	55.0	52.0					2																	40401975		2192	4290	6482	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40401975G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1944C>A	2.37:g.40401975G>T	ENSP00000384763:p.Phe648Leu					uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.F648L|SLC8A1_uc002rrz.2_Missense_Mutation_p.F640L|SLC8A1_uc002rsa.2_Missense_Mutation_p.F640L|SLC8A1_uc002rsd.3_Missense_Mutation_p.F640L|SLC8A1_uc002rsb.1_Missense_Mutation_p.F640L	p.F648L	NM_021097	NP_066920	P32418	NAC1_HUMAN			4	1968	-			648			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1944C>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604035	0.28534	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000406391	T;T;T;T;T;T;T;T;T	0.26223	1.77;1.75;1.78;1.75;1.77;1.77;1.78;1.79;1.77	5.78	4.9	0.64082	.	0.543483	0.20334	N	0.094380	T	0.17066	0.0410	L	0.28115	0.83	0.80722	D	1	B;B;B;B;B	0.21309	0.05;0.007;0.05;0.005;0.054	B;B;B;B;B	0.21360	0.014;0.008;0.014;0.012;0.034	T	0.04041	-1.0982	10	0.09338	T	0.73	.	12.4906	0.55897	0.0804:0.0:0.9196:0.0	.	640;640;640;648;648	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	640;648;648;648;648;640;640;648;640;640	ENSP00000383886:F640L;ENSP00000440727:F648L;ENSP00000384763:F648L;ENSP00000385678:F648L;ENSP00000385188:F640L;ENSP00000385535:F640L;ENSP00000332931:F648L;ENSP00000384908:F640L;ENSP00000385811:F640L	ENSP00000332931:F648L	F	-	3	2	SLC8A1	40255479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.309000	0.65774	1.456000	0.47831	0.650000	0.86243	TTC		PASS	0.313	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		4	158	4	158	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48898756	48898756	+	Silent	SNP	T	T	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:48898756T>A	ENST00000403751.3	+	8	1303	c.1266T>A	c.(1264-1266)gtT>gtA	p.V422V	STON1-GTF2A1L_ENST00000394751.3_Silent_p.V1079V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V1126V|GTF2A1L_ENST00000430487.2_Silent_p.V388V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V1126V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V1126V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V1126V|LHCGR_ENST00000420913.3_5'Flank	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	422					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.V71V(2)|p.V1126V(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGATGATGTTAGTGAACAGG	0.333																																						uc010yol.1																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(3235-3237)GTT>GTA		stonin 1							220.0	209.0	213.0					2																	48898756		2203	4300	6503	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48898756T>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1266T>A	2.37:g.48898756T>A						STON1-GTF2A1L_uc002rwp.1_Silent_p.V1126V|GTF2A1L_uc002rws.1_Silent_p.V422V|GTF2A1L_uc010yom.1_Silent_p.V388V|GTF2A1L_uc002rwt.2_Silent_p.V422V	p.V1079V	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3284	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1079					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.3237T>A	CCDS46281.1																																																																																				PASS	0.333	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		36	237	36	237	---	---	---	---
SLC1A4	6509	broad.mit.edu	37	2	65217264	65217264	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:65217264G>A	ENST00000234256.3	+	1	730	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	SLC1A4_ENST00000493121.1_Intron|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	163					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V163I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GCCTCCTCCTGTCCCCAAAGA	0.652																																						uc010yqa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(487-489)GTC>ATC		solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)						24.0	24.0	24.0					2																	65217264		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65217264G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.487G>A	2.37:g.65217264G>A	ENSP00000234256:p.Val163Ile					SLC1A4_uc010ypy.1_Intron|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Missense_Mutation_p.V163I	p.V163I	NM_003038	NP_003029	P43007	SATT_HUMAN			1	809	+			163			Extracellular (Potential).		B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.487G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	9.007	0.981478	0.18812	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.58652	0.32	4.59	1.73	0.24493	.	0.348820	0.32473	N	0.006041	T	0.36580	0.0972	N	0.20401	0.57	0.18873	N	0.999989	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.17837	-1.0356	10	0.38643	T	0.18	-23.3304	7.0402	0.25015	0.1533:0.0:0.707:0.1397	.	163;163	P43007;B2R7N6	SATT_HUMAN;.	I	83;163	ENSP00000234256:V163I	ENSP00000234256:V163I	V	+	1	0	SLC1A4	65070768	0.847000	0.29606	0.233000	0.24025	0.639000	0.38242	0.199000	0.17237	0.259000	0.21709	0.555000	0.69702	GTC		PASS	0.652	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		4	17	4	17	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100938034	100938034	+	Silent	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:100938034C>A	ENST00000393437.3	-	1	1161	c.522G>T	c.(520-522)ccG>ccT	p.P174P		NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	174							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.P174P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GCCGCACCTGCGGCCGCGCGG	0.751																																						uc002tal.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(520-522)CCG>CCT		LON peptidase N-terminal domain and ring finger							7.0	7.0	7.0					2																	100938034		1272	2815	4087	SO:0001819	synonymous_variant	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100938034C>A	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.522G>T	2.37:g.100938034C>A							p.P174P	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			1	1162	-			174					B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	c.522G>T	CCDS2046.2																																																																																				PASS	0.751	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		6	16	6	16	---	---	---	---
GPR45	11250	broad.mit.edu	37	2	105858749	105858749	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:105858749C>T	ENST00000258456.1	+	1	550	c.434C>T	c.(433-435)cCg>cTg	p.P145L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P145L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AAGCTGAACCCGCGCAGGGCC	0.652																																						uc002tco.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(433-435)CCG>CTG		G protein-coupled receptor 45							45.0	43.0	43.0					2																	105858749		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858749C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.434C>T	2.37:g.105858749C>T	ENSP00000258456:p.Pro145Leu						p.P145L	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	550	+			145			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.434C>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040506	0.93630	.	.	ENSG00000135973	ENST00000258456	T	0.72835	-0.69	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84488	0.5483	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.86334	0.1700	10	0.62326	D	0.03	-19.1471	17.9759	0.89127	0.0:1.0:0.0:0.0	.	145	Q9Y5Y3	GPR45_HUMAN	L	145	ENSP00000258456:P145L	ENSP00000258456:P145L	P	+	2	0	GPR45	105225181	0.997000	0.39634	0.880000	0.34516	0.993000	0.82548	6.059000	0.71133	2.337000	0.79520	0.462000	0.41574	CCG		PASS	0.652	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		11	28	11	28	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109100746	109100746	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:109100746G>C	ENST00000309863.6	+	13	4306	c.3592G>C	c.(3592-3594)Gaa>Caa	p.E1198Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1198					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E1198Q(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACAGAAACAAGAAACCCTACA	0.269																																						uc002tec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3592-3594)GAA>CAA		GRIP and coiled-coil domain-containing 2							35.0	36.0	36.0					2																	109100746		2194	4291	6485	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109100746G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3592G>C	2.37:g.109100746G>C	ENSP00000307939:p.Glu1198Gln					GCC2_uc002ted.2_Missense_Mutation_p.E1097Q	p.E1198Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			13	3746	+			1198			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3592G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528734	0.85706	.	.	ENSG00000135968	ENST00000309863	T	0.36520	1.25	5.98	5.98	0.97165	.	0.057615	0.64402	D	0.000002	T	0.60235	0.2253	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.70716	0.97	T	0.49523	-0.8931	10	0.23302	T	0.38	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	1198	Q8IWJ2	GCC2_HUMAN	Q	1198	ENSP00000307939:E1198Q	ENSP00000307939:E1198Q	E	+	1	0	GCC2	108467178	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.558000	0.90704	2.838000	0.97847	0.591000	0.81541	GAA		PASS	0.269	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		5	47	5	47	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125281905	125281905	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:125281905G>C	ENST00000431078.1	+	9	1714	c.1350G>C	c.(1348-1350)tgG>tgC	p.W450C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	450	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.W450C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGGCCTGTGGCACTCGGTTA	0.527																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1348-1350)TGG>TGC		contactin associated protein-like 5 precursor							75.0	80.0	79.0					2																	125281905		2079	4219	6298	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281905G>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1350G>C	2.37:g.125281905G>C	ENSP00000399013:p.Trp450Cys					CNTNAP5_uc010flu.2_Missense_Mutation_p.W451C	p.W450C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1714	+			450			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1350G>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216765	0.79352	.	.	ENSG00000155052	ENST00000431078	D	0.84944	-1.92	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000189	D	0.94364	0.8188	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94800	0.7970	10	0.87932	D	0	.	19.354	0.94404	0.0:0.0:1.0:0.0	.	450	Q8WYK1	CNTP5_HUMAN	C	450	ENSP00000399013:W450C	ENSP00000399013:W450C	W	+	3	0	CNTNAP5	124998375	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.542000	0.90647	2.820000	0.97059	0.650000	0.86243	TGG		PASS	0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			19	107	19	107	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141356255	141356255	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:141356255G>A	ENST00000389484.3	-	43	8110	c.7139C>T	c.(7138-7140)tCa>tTa	p.S2380L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2380					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S2380L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGCCATCTGAGAAATACAG	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7138-7140)TCA>TTA		low density lipoprotein-related protein 1B							165.0	147.0	153.0					2																	141356255		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141356255G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7139C>T	2.37:g.141356255G>A	ENSP00000374135:p.Ser2380Leu	TSP Lung(27;0.18)					p.S2380L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	43	8111	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2380			Extracellular (Potential).|LDL-receptor class B 26.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7139C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765513	0.90020	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91894	-2.93	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000003	D	0.92532	0.7628	M	0.74546	2.27	0.58432	D	0.999999	P	0.42456	0.78	B	0.40636	0.335	D	0.92637	0.6121	10	0.51188	T	0.08	.	19.6983	0.96039	0.0:0.0:1.0:0.0	.	2380	Q9NZR2	LRP1B_HUMAN	L	2380;2318	ENSP00000374135:S2380L	ENSP00000374135:S2380L	S	-	2	0	LRP1B	141072725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.752000	0.98900	2.669000	0.90835	0.460000	0.39030	TCA		PASS	0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		46	118	46	118	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152522861	152522861	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:152522861T>G	ENST00000172853.10	-	41	4921	c.4774A>C	c.(4774-4776)Agt>Cgt	p.S1592R	NEB_ENST00000427231.2_Missense_Mutation_p.S1592R|NEB_ENST00000409198.1_Missense_Mutation_p.S1592R|NEB_ENST00000603639.1_Missense_Mutation_p.S1592R|NEB_ENST00000397345.3_Missense_Mutation_p.S1592R|NEB_ENST00000604864.1_Missense_Mutation_p.S1592R			P20929	NEBU_HUMAN	nebulin	1592					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S1592R(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCTGAAGACTGAGAAATCCA	0.428																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(4774-4776)AGT>CGT		nebulin isoform 3							232.0	206.0	214.0					2																	152522861		1914	4130	6044	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152522861T>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4774A>C	2.37:g.152522861T>G	ENSP00000172853:p.Ser1592Arg						p.S1592R	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	41	4965	-			1592			Nebulin 41.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.4774A>C		.	.	.	.	.	.	.	.	.	.	T	25.7	4.666246	0.88251	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.11385	2.78;2.97;2.96;2.87	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.13926	-1.0491	10	0.56958	D	0.05	.	16.0711	0.80936	0.0:0.0:0.0:1.0	.	1592	P20929	NEBU_HUMAN	R	1592	ENSP00000386259:S1592R;ENSP00000380505:S1592R;ENSP00000416578:S1592R;ENSP00000172853:S1592R	ENSP00000172853:S1592R	S	-	1	0	NEB	152231107	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.040000	0.89188	2.197000	0.70478	0.482000	0.46254	AGT		PASS	0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		57	128	57	128	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179499896	179499896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:179499896G>T	ENST00000591111.1	-	178	37321	c.37097C>A	c.(37096-37098)tCa>tAa	p.S12366*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S5134*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S11439*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.S14007*|TTN_ENST00000359218.5_Nonsense_Mutation_p.S5067*|TTN_ENST00000460472.2_Nonsense_Mutation_p.S4942*|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12366					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S11439*(2)|p.S5134*(1)|p.S4942*(1)|p.S5067*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCACAGGTGAGGGCCTTAG	0.353																																						uc010zfg.1																			5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(34315-34317)TCA>TAA		titin isoform N2-A							160.0	146.0	151.0					2																	179499896		1846	4093	5939	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179499896G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37097C>A	2.37:g.179499896G>T	ENSP00000465570:p.Ser12366*					TTN_uc010zfh.1_Nonsense_Mutation_p.S5134*|TTN_uc010zfi.1_Nonsense_Mutation_p.S5067*|TTN_uc010zfj.1_Nonsense_Mutation_p.S4942*	p.S11439*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		177	34540	-			12366					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.34316C>A		.	.	.	.	.	.	.	.	.	.	G	61	55.099952	0.99989	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	.	.	.	X	11439;4942;5134;5067;4942	.	ENSP00000340554:S5134X	S	-	2	0	TTN	179208141	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.729000	0.98795	2.731000	0.93534	0.655000	0.94253	TCA		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	193	4	193	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179642226	179642226	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:179642226G>A	ENST00000591111.1	-	26	4790	c.4566C>T	c.(4564-4566)ccC>ccT	p.P1522P	TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.P1522P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.P1476P|TTN_ENST00000342992.6_Silent_p.P1522P|TTN_ENST00000589042.1_Silent_p.P1522P|TTN_ENST00000359218.5_Silent_p.P1476P|TTN_ENST00000460472.2_Silent_p.P1476P			Q8WZ42	TITIN_HUMAN	titin	12386	Ig-like 6.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P1522P(3)|p.P1476P(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATCACTGGGTGTGGCAG	0.383																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(4564-4566)CCC>CCT		titin isoform N2-A							49.0	49.0	49.0					2																	179642226		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179642226G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4566C>T	2.37:g.179642226G>A						TTN_uc010zfh.1_Silent_p.P1476P|TTN_uc010zfi.1_Silent_p.P1476P|TTN_uc010zfj.1_Silent_p.P1476P|TTN_uc002unb.2_Silent_p.P1522P|uc002unc.1_RNA	p.P1522P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		26	4790	-			1522					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.4566C>T																																																																																					PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	57	20	57	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179648821	179648821	+	Silent	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:179648821T>C	ENST00000591111.1	-	16	2975	c.2751A>G	c.(2749-2751)gaA>gaG	p.E917E	TTN_ENST00000360870.5_Silent_p.E917E|TTN_ENST00000342175.6_Silent_p.E871E|TTN_ENST00000342992.6_Silent_p.E917E|TTN_ENST00000589042.1_Silent_p.E917E|TTN_ENST00000359218.5_Silent_p.E871E|TTN_ENST00000460472.2_Silent_p.E871E			Q8WZ42	TITIN_HUMAN	titin	33951					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E871E(3)|p.E917E(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTGCAGTACTTCAAAGCGCT	0.537																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2749-2751)GAA>GAG		titin isoform N2-A							135.0	112.0	120.0					2																	179648821		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648821T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2751A>G	2.37:g.179648821T>C						TTN_uc010zfh.1_Silent_p.E871E|TTN_uc010zfi.1_Silent_p.E871E|TTN_uc010zfj.1_Silent_p.E871E|TTN_uc002unb.2_Silent_p.E917E	p.E917E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2975	-			917					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.2751A>G																																																																																					PASS	0.537	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	131	42	131	---	---	---	---
PLCD4	84812	broad.mit.edu	37	2	219499248	219499248	+	Silent	SNP	C	C	A	rs371190067		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:219499248C>A	ENST00000450993.2	+	13	2130	c.1791C>A	c.(1789-1791)ggC>ggA	p.G597G	PLCD4_ENST00000432688.1_Silent_p.G629G|PLCD4_ENST00000417849.1_Silent_p.G597G|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	597	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G597G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCAGAATGGCGGCTGTGGCT	0.517																																						uc002vij.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1789-1791)GGC>GGA		phospholipase C, delta 4							112.0	112.0	112.0					2																	219499248		1933	4123	6056	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219499248C>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1791C>A	2.37:g.219499248C>A							p.G597G	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	13	1986	+		Renal(207;0.0915)	597			PI-PLC Y-box.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.1791C>A	CCDS46516.1																																																																																				PASS	0.517	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			3	88	3	88	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238283095	238283095	+	Silent	SNP	C	C	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:238283095C>G	ENST00000295550.4	-	8	4091	c.3639G>C	c.(3637-3639)ctG>ctC	p.L1213L	COL6A3_ENST00000392004.3_Silent_p.L1007L|COL6A3_ENST00000409809.1_Silent_p.L1007L|COL6A3_ENST00000353578.4_Silent_p.L1007L|COL6A3_ENST00000472056.1_Silent_p.L606L|COL6A3_ENST00000346358.4_Silent_p.L1013L|COL6A3_ENST00000392003.2_Silent_p.L806L|COL6A3_ENST00000347401.3_Silent_p.L1012L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1213	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L1213L(1)|p.L1007L(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCAGCCTGCTCAGCTCCTCGC	0.607																																						uc002vwl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3637-3639)CTG>CTC		alpha 3 type VI collagen isoform 1 precursor							55.0	54.0	54.0					2																	238283095		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283095C>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3639G>C	2.37:g.238283095C>G						COL6A3_uc002vwo.2_Silent_p.L1007L|COL6A3_uc010znj.1_Silent_p.L606L|COL6A3_uc002vwq.2_Silent_p.L1007L|COL6A3_uc002vwr.2_Silent_p.L806L	p.L1213L	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3924	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1213			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3639G>C	CCDS33412.1																																																																																				PASS	0.607	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		38	54	38	54	---	---	---	---
MTERF4	130916	broad.mit.edu	37	2	242036818	242036818	+	Missense_Mutation	SNP	C	C	G	rs370269245		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr2:242036818C>G	ENST00000391980.2	-	3	603	c.545G>C	c.(544-546)tGt>tCt	p.C182S	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.C182S|MTERFD2_ENST00000406593.1_5'UTR	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		182					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.C182S(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TTCAGGGCAACAGTAAAGCAC	0.443																																						uc002wan.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)TGT>TCT		MTERF domain containing 2							98.0	91.0	93.0					2																	242036818		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242036818C>G																												ENST00000391980.2:c.545G>C	2.37:g.242036818C>G	ENSP00000375840:p.Cys182Ser					MTERFD2_uc010zoj.1_5'UTR|MTERFD2_uc010zok.1_Missense_Mutation_p.C182S	p.C211S	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	1125	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	182					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.632G>C	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	1.541	-0.541891	0.04053	.	.	ENSG00000122085	ENST00000414146;ENST00000391980;ENST00000439144;ENST00000424798;ENST00000407095	T;T;T;T;T	0.10668	2.85;2.86;2.86;2.86;2.86	4.91	3.03	0.35002	.	0.399998	0.25341	N	0.031368	T	0.09642	0.0237	M	0.62723	1.935	0.09310	N	1	B;B	0.22080	0.051;0.064	B;B	0.22152	0.033;0.038	T	0.41662	-0.9496	10	0.08837	T	0.75	2.871	5.6574	0.17650	0.149:0.6374:0.1353:0.0782	.	182;182	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	S	19;182;35;175;182	ENSP00000401409:C19S;ENSP00000375840:C182S;ENSP00000414989:C35S;ENSP00000409023:C175S;ENSP00000385630:C182S	ENSP00000241527:C182S	C	-	2	0	MTERFD2	241685491	0.512000	0.26186	0.003000	0.11579	0.460000	0.32559	1.893000	0.39758	0.426000	0.26116	0.467000	0.42956	TGT		PASS	0.443	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			28	73	28	73	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9036101	9036101	+	Silent	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr3:9036101C>T	ENST00000383836.3	-	19	2761	c.2334G>A	c.(2332-2334)tcG>tcA	p.S778S	SRGAP3_ENST00000360413.3_Silent_p.S754S	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	778	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S778S(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ACCAGTCCTCCGAGGCGCGGT	0.582			T	RAF1	pilocytic astrocytoma																																	uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(2332-2334)TCG>TCA		SLIT-ROBO Rho GTPase activating protein 3							78.0	79.0	79.0					3																	9036101		2203	4300	6503	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036101C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2334G>A	3.37:g.9036101C>T						SRGAP3_uc003brg.1_Silent_p.S754S	p.S778S	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	3010	-			778			SH3.		Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.2334G>A	CCDS2572.1																																																																																				PASS	0.582	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			60	192	60	192	---	---	---	---
ACY1	95	broad.mit.edu	37	3	52019412	52019412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr3:52019412G>A	ENST00000404366.2	+	4	341	c.195G>A	c.(193-195)tgG>tgA	p.W65*	ACY1_ENST00000458031.2_Nonsense_Mutation_p.W155*|ACY1_ENST00000476351.1_Intron|ACY1_ENST00000476854.1_Nonsense_Mutation_p.W65*|ACY1_ENST00000468068.1_3'UTR|ABHD14A-ACY1_ENST00000463937.1_Nonsense_Mutation_p.W166*|ACY1_ENST00000494103.1_Nonsense_Mutation_p.W65*|ABHD14B_ENST00000483233.1_5'Flank	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	65					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.W65*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TGTTGACCTGGCCAGGCACCA	0.612																																						uc003dcp.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|skin(1)	2						c.(193-195)TGG>TGA		aminoacylase 1	L-Aspartic Acid(DB00128)						164.0	120.0	135.0					3																	52019412		2203	4300	6503	SO:0001587	stop_gained	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52019412G>A	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.195G>A	3.37:g.52019412G>A	ENSP00000384296:p.Trp65*					ABHD14B_uc003dcn.2_5'Flank|ACY1_uc011bea.1_Nonsense_Mutation_p.W155*|ACY1_uc011beb.1_Nonsense_Mutation_p.W65*|ACY1_uc003dcq.2_Nonsense_Mutation_p.W65*	p.W65*	NM_000666	NP_000657	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	256	+			65					C9J6I6|C9J9D8|C9JWD4	Nonsense_Mutation	SNP	ENST00000404366.2	37	c.195G>A	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	G	36	5.830914	0.97003	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000494103;ENST00000404366;ENST00000469863	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.7689	17.6731	0.88224	0.0:0.0:1.0:0.0	.	.	.	.	X	155;166;65;65;65;65;74	.	.	W	+	3	0	ACY1;RP11-155D18.11	51994452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.852000	0.92215	2.263000	0.75096	0.456000	0.33151	TGG		PASS	0.612	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		4	80	4	80	---	---	---	---
ATG3	64422	broad.mit.edu	37	3	112267419	112267419	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr3:112267419C>T	ENST00000283290.5	-	5	738	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.D102N	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	102					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)	p.D102N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CCATCACCATCATCTTCTTCA	0.328																																						uc003dzd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(304-306)GAT>AAT		Apg3p							153.0	136.0	142.0					3																	112267419		2203	4300	6503	SO:0001583	missense	64422				autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	g.chr3:112267419C>T		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.304G>A	3.37:g.112267419C>T	ENSP00000283290:p.Asp102Asn					ATG3_uc003dzc.2_Missense_Mutation_p.D102N|ATG3_uc010hqe.2_Missense_Mutation_p.D102N	p.D102N	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN			5	414	-			102					Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	c.304G>A	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	C	35	5.471627	0.96274	.	.	ENSG00000144848	ENST00000283290;ENST00000402314;ENST00000492886	.	.	.	5.51	5.51	0.81932	Autophagy-related protein 3, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.79258	2.445	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.991	D;D;D	0.81914	0.995;0.959;0.931	D	0.84284	0.0496	9	0.66056	D	0.02	-9.1028	19.025	0.92929	0.0:1.0:0.0:0.0	.	15;102;102	C9JNW8;Q9NT62;Q9NT62-2	.;ATG3_HUMAN;.	N	102;102;15	.	ENSP00000283290:D102N	D	-	1	0	ATG3	113750109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.105000	0.77031	2.589000	0.87451	0.591000	0.81541	GAT		PASS	0.328	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		36	193	36	193	---	---	---	---
UPK1B	7348	broad.mit.edu	37	3	118917955	118917955	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr3:118917955G>T	ENST00000264234.3	+	7	849	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	UPK1B_ENST00000460625.1_Missense_Mutation_p.A226S|UPK1B_ENST00000497685.1_Missense_Mutation_p.A154S	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	234					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.A234S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CTGGGGGGTTGCCTGGTTTGG	0.493																																						uc003ecc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GCC>TCC		uroplakin 1B							116.0	111.0	113.0					3																	118917955		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118917955G>T	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.700G>T	3.37:g.118917955G>T	ENSP00000264234:p.Ala234Ser					UPK1B_uc011bix.1_Missense_Mutation_p.A154S|UPK1B_uc003ecd.2_Missense_Mutation_p.A226S	p.A234S	NM_006952	NP_008883	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	7	789	+			234			Helical; (Potential).		O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.700G>T	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245832	0.22796	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000460625	T;T;T	0.80566	-1.39;-1.39;-1.39	5.38	5.38	0.77491	.	0.150426	0.45606	D	0.000349	T	0.80534	0.4641	N	0.12746	0.255	0.48696	D	0.999691	B;D	0.69078	0.016;0.997	B;D	0.80764	0.025;0.994	T	0.79120	-0.1934	10	0.27785	T	0.31	-28.0825	16.6817	0.85294	0.0:0.0:1.0:0.0	.	226;234	C9J9M7;O75841	.;UPK1B_HUMAN	S	154;234;226	ENSP00000418972:A154S;ENSP00000264234:A234S;ENSP00000418116:A226S	ENSP00000264234:A234S	A	+	1	0	UPK1B	120400645	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.652000	0.61454	2.793000	0.96121	0.655000	0.94253	GCC		PASS	0.493	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			35	66	35	66	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130290112	130290112	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr3:130290112C>A	ENST00000358511.6	+	6	2883	c.2852C>A	c.(2851-2853)gCc>gAc	p.A951D	COL6A6_ENST00000453409.2_Missense_Mutation_p.A951D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	951	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A951D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATTGATGGTGCCAATCCCGTG	0.512																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2851-2853)GCC>GAC		collagen type VI alpha 6 precursor							59.0	57.0	58.0					3																	130290112		1987	4170	6157	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290112C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2852C>A	3.37:g.130290112C>A	ENSP00000351310:p.Ala951Asp						p.A951D	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2883	+			951			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2852C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154109	0.57259	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80738	-1.41;-1.41	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000044	D	0.91516	0.7321	M	0.89658	3.05	0.50813	D	0.999898	D	0.89917	1.0	D	0.91635	0.999	D	0.92754	0.6218	10	0.54805	T	0.06	.	17.8557	0.88762	0.0:1.0:0.0:0.0	.	951	A6NMZ7	CO6A6_HUMAN	D	951	ENSP00000351310:A951D;ENSP00000399236:A951D	ENSP00000351310:A951D	A	+	2	0	COL6A6	131772802	1.000000	0.71417	0.899000	0.35326	0.270000	0.26580	4.306000	0.59117	2.403000	0.81681	0.561000	0.74099	GCC		PASS	0.512	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		29	91	29	91	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132235581	132235581	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr3:132235581A>G	ENST00000260818.6	+	48	5842	c.5594A>G	c.(5593-5595)aAt>aGt	p.N1865S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1865					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.N1865S(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATGTTCTGCAATTCAACACAT	0.343																																						uc003eor.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(5593-5595)AAT>AGT		DnaJ (Hsp40) homolog, subfamily C, member 13							82.0	79.0	80.0					3																	132235581		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132235581A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5594A>G	3.37:g.132235581A>G	ENSP00000260818:p.Asn1865Ser						p.N1865S	NM_015268	NP_056083	O75165	DJC13_HUMAN			48	5659	+			1865					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.5594A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988401	0.74589	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.47869	0.83	5.71	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.053202	0.64402	N	0.000001	T	0.47801	0.1465	L	0.39085	1.19	0.50813	D	0.99989	P	0.51449	0.945	P	0.53062	0.717	T	0.30592	-0.9973	10	0.27785	T	0.31	.	11.4784	0.50312	0.93:0.0:0.07:0.0	.	1865	O75165	DJC13_HUMAN	S	1865;512	ENSP00000260818:N1865S	ENSP00000260818:N1865S	N	+	2	0	DNAJC13	133718271	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.154000	0.77437	1.003000	0.39130	0.528000	0.53228	AAT		PASS	0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		14	62	14	62	---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132419237	132419237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr3:132419237C>A	ENST00000337331.5	-	11	1770	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	NPHP3_ENST00000326682.8_Nonsense_Mutation_p.G562*	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	562					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.G562*(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGGCCTTCCCACAAAATGG	0.358																																						uc003epe.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1684-1686)GGA>TGA		nephrocystin 3							84.0	91.0	89.0					3																	132419237		2203	4300	6503	SO:0001587	stop_gained	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132419237C>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1684G>T	3.37:g.132419237C>A	ENSP00000338766:p.Gly562*					NPHP3_uc003epd.1_5'UTR|NPHP3_uc003epf.1_Nonsense_Mutation_p.G317*	p.G562*	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			11	1761	-			562					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Nonsense_Mutation	SNP	ENST00000337331.5	37	c.1684G>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	38	7.248803	0.98164	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.5529	19.6539	0.95828	0.0:1.0:0.0:0.0	.	.	.	.	X	562	.	ENSP00000319909:G562X	G	-	1	0	NPHP3	133901927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.732000	0.93576	0.650000	0.86243	GGA		PASS	0.358	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		4	164	4	164	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55602936	55602936	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr4:55602936G>A	ENST00000288135.5	+	19	2743	c.2646G>A	c.(2644-2646)atG>atA	p.M882I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M882I(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTACAAGATGATCAAGGAAG	0.448		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		1	Substitution - Missense(1)		lung(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(2644-2646)ATG>ATA		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						97.0	93.0	95.0					4																	55602936		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602936G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2646G>A	4.37:g.55602936G>A	ENSP00000288135:p.Met882Ile					KIT_uc010igs.2_Missense_Mutation_p.M878I	p.M882I	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	19	2733	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		882			Protein kinase.|Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2646G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194480	0.78902	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.85773	-2.03;-2.03	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.83473	0.5262	N	0.05177	-0.1	0.80722	D	1	P;D	0.62365	0.866;0.991	P;P	0.59889	0.554;0.865	D	0.87490	0.2426	10	0.66056	D	0.02	.	19.6056	0.95580	0.0:0.0:1.0:0.0	.	878;882	P10721-2;P10721	.;KIT_HUMAN	I	882;878	ENSP00000288135:M882I;ENSP00000390987:M878I	ENSP00000288135:M882I	M	+	3	0	KIT	55297693	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	6.608000	0.74168	2.625000	0.88918	0.655000	0.94253	ATG		PASS	0.448	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			30	122	30	122	---	---	---	---
PDCL2	132954	broad.mit.edu	37	4	56448312	56448312	+	Missense_Mutation	SNP	C	C	G	rs372623868		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr4:56448312C>G	ENST00000295645.4	-	2	201	c.99G>C	c.(97-99)atG>atC	p.M33I		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	33								p.M33I(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			AACGTAAAACCATTTCTTCAA	0.358																																						uc003hbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)ATG>ATC		phosducin-like 2							191.0	173.0	178.0					4																	56448312		1876	4107	5983	SO:0001583	missense	132954							g.chr4:56448312C>G	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.99G>C	4.37:g.56448312C>G	ENSP00000295645:p.Met33Ile						p.M33I	NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		2	202	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		33					A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.99G>C	CCDS47059.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926481	0.52759	.	.	ENSG00000163440	ENST00000295645	T	0.41065	1.01	4.99	4.99	0.66335	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	N	0.25647	0.755	0.44110	D	0.996883	B	0.22211	0.066	B	0.32393	0.145	T	0.12734	-1.0536	10	0.33940	T	0.23	-25.3494	15.5383	0.76021	0.0:1.0:0.0:0.0	.	33	Q8N4E4	PDCL2_HUMAN	I	33	ENSP00000295645:M33I	ENSP00000295645:M33I	M	-	3	0	PDCL2	56143069	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.807000	0.55591	2.503000	0.84419	0.491000	0.48974	ATG		PASS	0.358	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		25	85	25	85	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84358185	84358185	+	Missense_Mutation	SNP	T	T	C	rs376480242		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr4:84358185T>C	ENST00000295488.3	-	9	2036	c.1874A>G	c.(1873-1875)aAt>aGt	p.N625S	HELQ_ENST00000510985.1_Missense_Mutation_p.N558S	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	625	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.N625S(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CAGGTTGCCATTGCCAATATT	0.403								Other identified genes with known or suspected DNA repair function																														uc003hom.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1873-1875)AAT>AGT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308		T	SER/ASN	0,4406		0,0,2203	153.0	148.0	150.0		1874	-0.8	0.1	4		150	1,8599	1.2+/-3.3	0,1,4299	no	missense	HELQ	NM_133636.2	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	625/1102	84358185	1,13005	2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84358185T>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1874A>G	4.37:g.84358185T>C	ENSP00000295488:p.Asn625Ser					HELQ_uc010ikb.2_Missense_Mutation_p.N558S|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.N625S	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			9	2053	-			625			Helicase C-terminal.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1874A>G	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	2.159	-0.392712	0.04899	0.0	1.16E-4	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.41758	0.99;0.99	5.78	-0.835	0.10775	Helicase, C-terminal (2);	0.563503	0.21328	N	0.076347	T	0.25938	0.0632	L	0.38733	1.17	0.28996	N	0.887749	B;B	0.13145	0.007;0.001	B;B	0.10450	0.005;0.002	T	0.32824	-0.9892	10	0.09084	T	0.74	0.012	10.2861	0.43568	0.0:0.2275:0.0:0.7725	.	558;625	E3W980;Q8TDG4	.;HELQ_HUMAN	S	625;558	ENSP00000295488:N625S;ENSP00000424539:N558S	ENSP00000295488:N625S	N	-	2	0	HELQ	84577209	0.095000	0.21747	0.058000	0.19502	0.037000	0.13140	0.341000	0.19909	-0.045000	0.13468	-0.292000	0.09595	AAT		PASS	0.403	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		27	69	27	69	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87684053	87684053	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr4:87684053A>C	ENST00000411767.2	+	24	3790	c.3727A>C	c.(3727-3729)Agc>Cgc	p.S1243R	PTPN13_ENST00000427191.2_Missense_Mutation_p.S1224R|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1052R|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1243R|PTPN13_ENST00000436978.1_Missense_Mutation_p.S1243R			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1243					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S1243R(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCGGGAAGGAAGCCTGAGTTC	0.532																																						uc003hpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(3727-3729)AGC>CGC		protein tyrosine phosphatase, non-receptor type							81.0	83.0	83.0					4																	87684053		1898	4120	6018	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87684053A>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3727A>C	4.37:g.87684053A>C	ENSP00000407249:p.Ser1243Arg					PTPN13_uc003hpy.2_Missense_Mutation_p.S1243R|PTPN13_uc003hqa.2_Missense_Mutation_p.S1224R|PTPN13_uc003hqb.2_Missense_Mutation_p.S1052R	p.S1243R	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	24	4207	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1243					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.3727A>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.665172	0.88251	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.55930	0.49;0.57;0.65;0.5;0.57	5.47	5.47	0.80525	.	0.190248	0.36815	N	0.002381	T	0.71013	0.3290	M	0.66939	2.045	0.45490	D	0.998457	D;P;D;D	0.89917	1.0;0.84;1.0;1.0	D;P;D;D	0.87578	0.998;0.636;0.983;0.988	T	0.74375	-0.3686	10	0.72032	D	0.01	.	15.5586	0.76219	1.0:0.0:0.0:0.0	.	1052;1224;1243;1243	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	R	1224;1243;1052;1243;1243;1192	ENSP00000408368:S1224R;ENSP00000394794:S1243R;ENSP00000322675:S1052R;ENSP00000407249:S1243R;ENSP00000426626:S1243R	ENSP00000322675:S1052R	S	+	1	0	PTPN13	87903077	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.084000	0.71335	2.062000	0.61559	0.528000	0.53228	AGC		PASS	0.532	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			42	97	42	97	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89385004	89385004	+	Splice_Site	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr4:89385004A>G	ENST00000264350.3	+	6	933		c.e6-1			NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CCCTTTCCTTAGGATGGGCTG	0.378																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2																			1	Unknown(1)		lung(1)	ovary(4)|lung(3)|skin(2)	9						c.e6-2		hect domain and RLD 5							145.0	132.0	136.0					4																	89385004		2203	4300	6503	SO:0001630	splice_region_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89385004A>G	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.781-1A>G	4.37:g.89385004A>G							p.D261_splice	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	6	934	+		Hepatocellular(203;0.114)						B2RTQ1|Q69G20	Splice_Site	SNP	ENST00000264350.3	37	c.781_splice	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729880	0.69074	.	.	ENSG00000138646	ENST00000264350	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5513	0.68068	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HERC5	89604027	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	8.104000	0.89551	2.166000	0.68216	0.528000	0.53228	.		PASS	0.378	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	Intron	35	115	35	115	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119273413	119273413	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr4:119273413G>T	ENST00000296498.3	-	1	745	c.463C>A	c.(463-465)Cgt>Agt	p.R155S		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	155	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R155S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACCTTGCCACGGGCGTCTCCG	0.692																																						uc003ica.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(463-465)CGT>AGT		neurotrypsin precursor							17.0	19.0	18.0					4																	119273413		2203	4298	6501	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119273413G>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.463C>A	4.37:g.119273413G>T	ENSP00000296498:p.Arg155Ser						p.R155S	NM_003619	NP_003610	P56730	NETR_HUMAN			1	510	-			155			Kringle.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.463C>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	2.932	-0.220742	0.06061	.	.	ENSG00000164099	ENST00000296498	T	0.79141	-1.24	4.46	2.7	0.31948	Kringle (4);Kringle-like fold (1);	1.023820	0.07795	N	0.955508	T	0.57902	0.2085	N	0.10837	0.055	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.43718	-0.9374	10	0.15952	T	0.53	.	6.819	0.23847	0.0925:0.0:0.7333:0.1742	.	155	P56730	NETR_HUMAN	S	155	ENSP00000296498:R155S	ENSP00000296498:R155S	R	-	1	0	PRSS12	119492861	0.183000	0.23186	0.001000	0.08648	0.406000	0.30931	1.478000	0.35442	0.594000	0.29761	0.563000	0.77884	CGT		PASS	0.692	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			6	17	6	17	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5146420	5146420	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr5:5146420T>C	ENST00000274181.7	+	3	491	c.353T>C	c.(352-354)cTa>cCa	p.L118P	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L118P|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	118					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L118P(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCAGCAGCCTAGTGGCTCCT	0.537																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(352-354)CTA>CCA		ADAM metallopeptidase with thrombospondin type 1							86.0	87.0	86.0					5																	5146420		1966	4152	6118	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146420T>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.353T>C	5.37:g.5146420T>C	ENSP00000274181:p.Leu118Pro					ADAMTS16_uc003jdk.1_Missense_Mutation_p.L118P|ADAMTS16_uc003jdj.1_Missense_Mutation_p.L118P	p.L118P	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	491	+			118					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.353T>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836258	0.50951	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.08720	3.06;3.06	5.74	5.74	0.90152	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000013	T	0.40094	0.1103	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.996;0.996	T	0.53092	-0.8487	10	0.87932	D	0	.	15.3236	0.74141	0.0:0.0:0.0:1.0	.	118;118;118	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	P	118	ENSP00000274181:L118P;ENSP00000421631:L118P	ENSP00000274181:L118P	L	+	2	0	ADAMTS16	5199420	1.000000	0.71417	0.569000	0.28460	0.041000	0.13682	6.128000	0.71650	2.317000	0.78254	0.460000	0.39030	CTA		PASS	0.537	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		90	96	90	96	---	---	---	---
CMBL	134147	broad.mit.edu	37	5	10286472	10286472	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr5:10286472C>T	ENST00000296658.3	-	4	880	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	154						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.V154I(1)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TTACCATAGACGGACACCCCT	0.493																																						uc003jes.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(460-462)GTC>ATC		carboxymethylenebutenolidase							91.0	87.0	88.0					5																	10286472		2203	4300	6503	SO:0001583	missense	134147					cytosol	hydrolase activity|protein binding	g.chr5:10286472C>T		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.460G>A	5.37:g.10286472C>T	ENSP00000296658:p.Val154Ile						p.V154I	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			4	911	-			154					D3DTC7|Q8TED6	Missense_Mutation	SNP	ENST00000296658.3	37	c.460G>A	CCDS3878.1	.	.	.	.	.	.	.	.	.	.	C	5.220	0.226019	0.09916	.	.	ENSG00000164237	ENST00000296658	T	0.41400	1.0	5.12	0.0637	0.14350	Dienelactone hydrolase (1);	0.342720	0.29053	N	0.013292	T	0.14743	0.0356	N	0.04508	-0.205	0.20764	N	0.999859	B	0.20671	0.047	B	0.17433	0.018	T	0.12553	-1.0543	10	0.22706	T	0.39	-9.0787	2.5846	0.04827	0.1141:0.3003:0.3656:0.2199	.	154	Q96DG6	CMBL_HUMAN	I	154	ENSP00000296658:V154I	ENSP00000296658:V154I	V	-	1	0	CMBL	10339472	0.000000	0.05858	0.027000	0.17364	0.018000	0.09664	-0.304000	0.08199	-0.335000	0.08451	-0.258000	0.10820	GTC		PASS	0.493	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		18	108	18	108	---	---	---	---
TRIM36	55521	broad.mit.edu	37	5	114469806	114469806	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr5:114469806C>A	ENST00000282369.3	-	8	1406	c.1285G>T	c.(1285-1287)Gtt>Ttt	p.V429F	TRIM36_ENST00000514154.1_Missense_Mutation_p.V274F|TRIM36_ENST00000513154.1_Missense_Mutation_p.V417F	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	429	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V429I(1)|p.V429F(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGTTATAAACTTTGCTCTGT	0.328																																						uc003kqs.2																			2	Substitution - Missense(2)	p.V429I(1)	ovary(1)|lung(1)	ovary(4)|lung(2)|breast(2)	8						c.(1285-1287)GTT>TTT		tripartite motif-containing 36 isoform 1							95.0	88.0	90.0					5																	114469806		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114469806C>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1285G>T	5.37:g.114469806C>A	ENSP00000282369:p.Val429Phe					TRIM36_uc011cwc.1_Missense_Mutation_p.V417F|TRIM36_uc003kqt.2_Missense_Mutation_p.V274F	p.V429F	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	8	1794	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	429			Fibronectin type-III.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1285G>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004281	0.54254	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.66099	0.5;0.62;-0.19	5.28	4.29	0.51040	Fibronectin, type III (3);	0.218661	0.47455	D	0.000236	T	0.51176	0.1659	L	0.34521	1.04	0.80722	D	1	P;P	0.41498	0.681;0.752	B;P	0.45794	0.323;0.493	T	0.55405	-0.8146	10	0.62326	D	0.03	.	3.4177	0.07381	0.0:0.6229:0.0:0.3771	.	417;429	E9PFI8;Q9NQ86	.;TRI36_HUMAN	F	429;417;274	ENSP00000282369:V429F;ENSP00000423934:V417F;ENSP00000424259:V274F	ENSP00000282369:V429F	V	-	1	0	TRIM36	114497705	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.485000	0.35519	2.467000	0.83353	0.563000	0.77884	GTT		PASS	0.328	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		26	57	26	57	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128362850	128362850	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr5:128362850G>C	ENST00000262462.4	+	7	2290	c.1280G>C	c.(1279-1281)cGa>cCa	p.R427P	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R427P|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R427P			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	427					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R427P(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTCATTTCTCGAGTGAATGCA	0.368																																						uc003kuy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1279-1281)CGA>CCA		solute carrier family 27 (fatty acid							91.0	93.0	93.0					5																	128362850		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128362850G>C	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1280G>C	5.37:g.128362850G>C	ENSP00000262462:p.Arg427Pro					SLC27A6_uc003kuz.2_Missense_Mutation_p.R427P	p.R427P	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	8	1676	+		all_cancers(142;0.0483)|Prostate(80;0.055)	427					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1280G>C	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803487	0.16397	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.51817	0.69;0.69;0.69	4.53	-8.05	0.01106	AMP-dependent synthetase/ligase (1);	0.924524	0.09310	N	0.819745	T	0.34687	0.0906	L	0.50993	1.605	0.24316	N	0.995061	B	0.06786	0.001	B	0.14578	0.011	T	0.17531	-1.0366	9	.	.	.	-0.0018	10.7098	0.45977	0.4422:0.4491:0.1088:0.0	.	427	Q9Y2P4	S27A6_HUMAN	P	427	ENSP00000262462:R427P;ENSP00000378684:R427P;ENSP00000421024:R427P	.	R	+	2	0	SLC27A6	128390749	0.001000	0.12720	0.069000	0.20011	0.902000	0.53008	-0.193000	0.09573	-1.986000	0.00983	-0.363000	0.07495	CGA		PASS	0.368	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		35	80	35	80	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553062	140553062	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr5:140553062G>A	ENST00000231137.3	+	1	820	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D216N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGCTTTAGACGGCGGCTC	0.532																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(646-648)GAC>AAC		protocadherin beta 7 precursor							67.0	66.0	67.0					5																	140553062		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553062G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.646G>A	5.37:g.140553062G>A	ENSP00000231137:p.Asp216Asn						p.D216N	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	820	+			216			Extracellular (Potential).|Cadherin 2.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.646G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247416	0.59103	.	.	ENSG00000113212	ENST00000231137	T	0.65364	-0.15	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87485	0.6189	H	0.98388	4.22	0.52099	D	0.999944	D	0.89917	1.0	D	0.97110	1.0	D	0.92839	0.6287	9	0.87932	D	0	.	17.4139	0.87494	0.0:0.0:1.0:0.0	.	216	Q9Y5E2	PCDB7_HUMAN	N	216	ENSP00000231137:D216N	ENSP00000231137:D216N	D	+	1	0	PCDHB7	140533246	1.000000	0.71417	0.845000	0.33349	0.007000	0.05969	9.787000	0.99055	2.248000	0.74166	0.655000	0.94253	GAC		PASS	0.532	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		25	67	25	67	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140783976	140783976	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr5:140783976G>A	ENST00000573521.1	+	1	1457	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAATTCTAGAGTTATTTAC	0.483																																						uc003lkh.1																			0					0						c.(1456-1458)AGA>AAA		protocadherin gamma subfamily A, 9 isoform 1							63.0	62.0	63.0					5																	140783976		1903	4139	6042	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783976G>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1457G>A	5.37:g.140783976G>A	ENSP00000460274:p.Arg486Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R486K	p.R486K	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1457	+			486			Extracellular (Potential).|Cadherin 5.		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.1457G>A	CCDS58981.1																																																																																				PASS	0.483	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		27	54	27	54	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176304243	176304243	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr5:176304243G>A	ENST00000329542.4	+	9	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	UNC5A_ENST00000261961.3_Missense_Mutation_p.E437K	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	477	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E477K(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGATCTATGAGATCTACCT	0.642																																						uc003mey.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1429-1431)GAG>AAG		netrin receptor Unc5h1 precursor							67.0	64.0	65.0					5																	176304243		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304243G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1429G>A	5.37:g.176304243G>A	ENSP00000332737:p.Glu477Lys						p.E477K	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1621	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	477			ZU5.|Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1429G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256219	0.95336	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.49139	0.79;0.79	5.32	5.32	0.75619	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	M	0.86178	2.8	0.52501	D	0.999959	D	0.89917	1.0	D	0.97110	1.0	T	0.78290	-0.2261	10	0.87932	D	0	-36.7684	18.5781	0.91162	0.0:0.0:1.0:0.0	.	477	Q6ZN44	UNC5A_HUMAN	K	477;437	ENSP00000332737:E477K;ENSP00000261961:E437K	ENSP00000261961:E437K	E	+	1	0	UNC5A	176236849	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.636000	0.83301	2.496000	0.84212	0.484000	0.47621	GAG		PASS	0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		33	54	33	54	---	---	---	---
TUBB2A	7280	broad.mit.edu	37	6	3155931	3155931	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr6:3155931C>T	ENST00000333628.3	-	3	267	c.205G>A	c.(205-207)Gag>Aag	p.E69K	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	69					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E69K(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GTGCCAGGCTCCAGATCCACC	0.527																																						uc003mvc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(205-207)GAG>AAG		tubulin, beta 2							75.0	69.0	71.0					6																	3155931		2203	4300	6503	SO:0001583	missense	7280				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr6:3155931C>T	AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.205G>A	6.37:g.3155931C>T	ENSP00000369703:p.Glu69Lys					TUBB2A_uc003mvb.2_Missense_Mutation_p.E62K|TUBB2A_uc003mvd.2_Intron	p.E69K	NM_001069	NP_001060	Q13885	TBB2A_HUMAN			3	291	-	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	69					Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	c.205G>A	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786181	0.70337	.	.	ENSG00000137267	ENST00000333628	T	0.76709	-1.04	5.55	5.55	0.83447	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.53938	U	0.000046	D	0.85978	0.5823	H	0.98542	4.26	0.80722	D	1	B;B	0.23442	0.085;0.039	B;B	0.28916	0.049;0.096	D	0.86081	0.1544	10	0.87932	D	0	.	19.8606	0.96783	0.0:1.0:0.0:0.0	.	69;69	Q13885;Q8N6N5	TBB2A_HUMAN;.	K	69	ENSP00000369703:E69K	ENSP00000369703:E69K	E	-	1	0	TUBB2A	3100930	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	2.762000	0.94881	0.650000	0.86243	GAG		PASS	0.527	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069		39	64	39	64	---	---	---	---
IP6K3	117283	broad.mit.edu	37	6	33695967	33695967	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr6:33695967C>A	ENST00000293756.4	-	3	636	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	IP6K3_ENST00000451316.1_Missense_Mutation_p.V104L	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	104					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.V104L(1)		skin(1)	1						CATATGGCCACCGCCGCCGAC	0.632																																						uc010jvf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GTG>TTG		inositol hexakisphosphate kinase 3							44.0	43.0	44.0					6																	33695967		2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33695967C>A	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.310G>T	6.37:g.33695967C>A	ENSP00000293756:p.Val104Leu					IP6K3_uc003ofb.2_Missense_Mutation_p.V104L	p.V104L	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			4	846	-			104					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.310G>T	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	C	0.570	-0.841638	0.02671	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.61980	0.06;0.06	4.39	-0.958	0.10347	.	0.802256	0.11016	N	0.608898	T	0.29524	0.0736	L	0.43152	1.355	0.09310	N	1	B	0.26120	0.142	B	0.23716	0.048	T	0.26467	-1.0102	10	0.28530	T	0.3	-11.5692	10.9632	0.47397	0.0:0.5209:0.0:0.4791	.	104	Q96PC2	IP6K3_HUMAN	L	104	ENSP00000398861:V104L;ENSP00000293756:V104L	ENSP00000293756:V104L	V	-	1	0	IP6K3	33803945	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	0.169000	0.16641	-0.344000	0.08338	-0.797000	0.03246	GTG		PASS	0.632	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		4	30	4	30	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47253871	47253871	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr6:47253871C>A	ENST00000296861.2	-	2	950	c.557G>T	c.(556-558)tGc>tTc	p.C186F		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	186					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.C186F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GTATGCTTTGCATTTCATCAC	0.547																																						uc003oyv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)TGC>TTC		tumor necrosis factor receptor superfamily,							256.0	178.0	204.0					6																	47253871		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253871C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.557G>T	6.37:g.47253871C>A	ENSP00000296861:p.Cys186Phe						p.C186F	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		2	990	-			186			Extracellular (Potential).|TNFR-Cys 4.		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.557G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357708	0.82243	.	.	ENSG00000146072	ENST00000296861	T	0.66099	-0.19	5.68	5.68	0.88126	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.000000	0.85682	D	0.000000	D	0.84474	0.5480	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87626	0.2513	10	0.87932	D	0	.	20.1595	0.98130	0.0:1.0:0.0:0.0	.	186	O75509	TNR21_HUMAN	F	186	ENSP00000296861:C186F	ENSP00000296861:C186F	C	-	2	0	TNFRSF21	47361830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.221000	0.78016	2.847000	0.97988	0.591000	0.81541	TGC		PASS	0.547	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		38	77	38	77	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51918945	51918945	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr6:51918945C>T	ENST00000371117.3	-	20	2130	c.1855G>A	c.(1855-1857)Ggc>Agc	p.G619S	PKHD1_ENST00000340994.4_Missense_Mutation_p.G619S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	619					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G619S(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCATGTGGCCTTTGTATGCA	0.438																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(1855-1857)GGC>AGC		fibrocystin isoform 1							164.0	133.0	144.0					6																	51918945		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918945C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1855G>A	6.37:g.51918945C>T	ENSP00000360158:p.Gly619Ser					PKHD1_uc003pai.2_Missense_Mutation_p.G619S	p.G619S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			20	2131	-	Lung NSC(77;0.0605)		619			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.1855G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153617	0.78114	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87334	-2.24;-2.24	5.31	4.43	0.53597	.	0.083518	0.50627	N	0.000115	D	0.89570	0.6753	M	0.65498	2.005	0.32319	N	0.562659	D;D	0.89917	0.999;1.0	D;D	0.75484	0.964;0.986	D	0.89280	0.3611	10	0.72032	D	0.01	.	12.8928	0.58082	0.0:0.9214:0.0:0.0786	.	619;619	P08F94-2;P08F94	.;PKHD1_HUMAN	S	619	ENSP00000360158:G619S;ENSP00000341097:G619S	ENSP00000341097:G619S	G	-	1	0	PKHD1	52026904	1.000000	0.71417	0.928000	0.36995	0.860000	0.49131	2.612000	0.46343	1.226000	0.43582	0.591000	0.81541	GGC		PASS	0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		41	138	41	138	---	---	---	---
MLIP	90523	broad.mit.edu	37	6	54025338	54025338	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr6:54025338C>A	ENST00000274897.5	+	6	888	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.Q794K|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000514921.1_Missense_Mutation_p.Q783K	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	259						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.Q259K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAGCTCAGGCAGCAAACTGA	0.408																																						uc003pcg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)CAG>AAG		hypothetical protein LOC90523							70.0	66.0	67.0					6																	54025338		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54025338C>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.775C>A	6.37:g.54025338C>A	ENSP00000274897:p.Gln259Lys					C6orf142_uc003pcf.2_Missense_Mutation_p.Q783K|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.Q794K	p.Q259K	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			6	888	+	Lung NSC(77;0.0317)		259					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.775C>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236832	0.58886	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000502396	T;T;T	0.37235	1.21;1.21;1.21	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000024	T	0.49729	0.1574	M	0.61703	1.905	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.79784	0.993;0.987;0.993	T	0.40232	-0.9574	10	0.41790	T	0.15	-6.3359	16.9323	0.86193	0.0:1.0:0.0:0.0	.	794;259;783	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	K	259;783;794	ENSP00000274897:Q259K;ENSP00000425142:Q783K;ENSP00000426290:Q794K	ENSP00000274897:Q259K	Q	+	1	0	MLIP	54133297	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.486000	0.35530	2.600000	0.87896	0.467000	0.42956	CAG		PASS	0.408	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		25	98	25	98	---	---	---	---
NDUFAF4	29078	broad.mit.edu	37	6	97339016	97339016	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr6:97339016G>A	ENST00000316149.7	-	3	571	c.492C>T	c.(490-492)ttC>ttT	p.F164F	NDUFAF4_ENST00000489477.1_5'Flank	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	164					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)		p.F164F(1)		large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						CTTCAGGAGGGAAGATTTCGA	0.343																																						uc003pow.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(490-492)TTC>TTT		NADH dehydrogenase (ubiquinone) 1 alpha							67.0	66.0	67.0					6																	97339016		2203	4298	6501	SO:0001819	synonymous_variant	29078				mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	g.chr6:97339016G>A	AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.492C>T	6.37:g.97339016G>A						NDUFAF4_uc003pov.2_RNA	p.F164F	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN			3	582	-			164					B2R4J5	Silent	SNP	ENST00000316149.7	37	c.492C>T	CCDS5037.1																																																																																				PASS	0.343	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165		29	109	29	109	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161510413	161510413	+	Silent	SNP	T	T	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr6:161510413T>G	ENST00000392142.4	+	11	3031	c.2883T>G	c.(2881-2883)gcT>gcG	p.A961A	MAP3K4_ENST00000348824.7_Silent_p.A961A|MAP3K4_ENST00000366919.2_Silent_p.A961A|MAP3K4_ENST00000366920.2_Silent_p.A961A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	961					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.A961A(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGAGAAAAGCTTTCCAGCAGT	0.473																																						uc003qtn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(2881-2883)GCT>GCG		mitogen-activated protein kinase kinase kinase 4							173.0	170.0	171.0					6																	161510413		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161510413T>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2883T>G	6.37:g.161510413T>G						MAP3K4_uc010kkc.1_Silent_p.A961A|MAP3K4_uc003qto.2_Silent_p.A961A|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Silent_p.A414A|MAP3K4_uc003qtp.2_5'Flank	p.A961A	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	11	3025	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	961					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.2883T>G	CCDS34565.1																																																																																				PASS	0.473	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			58	225	58	225	---	---	---	---
STARD3NL	83930	broad.mit.edu	37	7	38254705	38254705	+	Splice_Site	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:38254705C>T	ENST00000009041.7	+	4	637	c.380C>T	c.(379-381)gCg>gTg	p.A127V	STARD3NL_ENST00000544203.1_Splice_Site_p.A120V|STARD3NL_ENST00000434197.1_Splice_Site_p.A127V|STARD3NL_ENST00000396013.1_Splice_Site_p.A127V	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	127	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.A127V(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TGGGCAATAGCGGTGAGTATG	0.483																																						uc003tfr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)GCG>GTG		MLN64 N-terminal homolog							111.0	98.0	103.0					7																	38254705		2203	4300	6503	SO:0001630	splice_region_variant	83930					integral to membrane|late endosome membrane		g.chr7:38254705C>T	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.381+1C>T	7.37:g.38254705C>T						STARD3NL_uc003tfs.2_Missense_Mutation_p.A127V|STARD3NL_uc003tft.2_Missense_Mutation_p.A127V	p.A127V	NM_032016	NP_114405	O95772	MENTO_HUMAN			4	528	+			127			MENTAL.|Helical; (Potential).		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.380C>T	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263279	0.95399	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.94	5.06	0.68205	MENTAL domain (2);	0.089843	0.85682	D	0.000000	T	0.75133	0.3808	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.924;0.997	T	0.78409	-0.2215	10	0.72032	D	0.01	-7.474	13.9587	0.64166	0.0:0.9263:0.0:0.0737	.	127;127	C9JKL2;O95772	.;MENTO_HUMAN	V	127;120;127;127;127;127;127	ENSP00000009041:A127V;ENSP00000439436:A120V;ENSP00000394000:A127V;ENSP00000379334:A127V;ENSP00000411933:A127V;ENSP00000395455:A127V;ENSP00000402028:A127V	ENSP00000009041:A127V	A	+	2	0	STARD3NL	38221230	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.480000	0.81109	1.514000	0.48869	0.643000	0.83706	GCG		PASS	0.483	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2		Missense_Mutation	52	52	52	52	---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43840098	43840098	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:43840098G>C	ENST00000402924.1	+	7	550	c.387G>C	c.(385-387)ttG>ttC	p.L129F	BLVRA_ENST00000265523.4_Missense_Mutation_p.L129F	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	129					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.L129F(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TTGAACTCTTGATGGAGGAAT	0.488																																						uc003tir.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)TTG>TTC		biliverdin reductase A precursor	NADH(DB00157)						113.0	106.0	108.0					7																	43840098		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43840098G>C	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.387G>C	7.37:g.43840098G>C	ENSP00000385757:p.Leu129Phe					BLVRA_uc010kxv.2_Missense_Mutation_p.L129F	p.L129F	NM_000712	NP_000703	P53004	BIEA_HUMAN			6	470	+			129					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.387G>C	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158299	0.38119	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.17528	2.27;2.27	5.36	4.48	0.54585	NAD(P)-binding domain (1);	0.129093	0.53938	D	0.000060	T	0.06554	0.0168	N	0.13098	0.295	0.41441	D	0.987928	P	0.46142	0.873	B	0.34931	0.192	T	0.29731	-1.0002	10	0.08179	T	0.78	.	7.1852	0.25795	0.0867:0.0:0.7443:0.169	.	129	P53004	BIEA_HUMAN	F	129	ENSP00000265523:L129F;ENSP00000385757:L129F	ENSP00000265523:L129F	L	+	3	2	BLVRA	43806623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.025000	0.30090	1.414000	0.47017	0.655000	0.94253	TTG		PASS	0.488	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		28	50	28	50	---	---	---	---
WBSCR22	114049	broad.mit.edu	37	7	73111966	73111966	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:73111966G>A	ENST00000265758.2	+	11	791	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	STX1A_ENST00000484736.1_5'Flank|WBSCR22_ENST00000423166.2_3'UTR|WBSCR22_ENST00000423497.1_Missense_Mutation_p.V262M	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	245					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.V245M(1)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCGGGGAATGGTGAGGAAGAG	0.647																																						uc003tyt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)GTG>ATG		Williams Beuren syndrome chromosome region 22							46.0	45.0	45.0					7																	73111966		2203	4300	6503	SO:0001583	missense	114049					nucleus	methyltransferase activity	g.chr7:73111966G>A	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.733G>A	7.37:g.73111966G>A	ENSP00000265758:p.Val245Met					WBSCR22_uc003tyu.2_Missense_Mutation_p.V262M|WBSCR22_uc003tyv.2_Missense_Mutation_p.V207M|WBSCR22_uc003tyw.1_Missense_Mutation_p.V108M	p.V245M	NM_017528	NP_059998	O43709	WBS22_HUMAN			11	791	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	245					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	c.733G>A	CCDS5557.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.10|12.10|12.10	1.836639|1.836639|1.836639	0.32421|0.32421|0.32421	.|.|.	.|.|.	ENSG00000071462|ENSG00000071462|ENSG00000071462	ENST00000453316|ENST00000265758;ENST00000423497|ENST00000442099	.|T;T|.	.|0.47528|.	.|0.89;0.84|.	5.84|5.84|5.84	4.94|4.94|4.94	0.65067|0.65067|0.65067	.|.|.	.|0.134640|.	.|0.49305|.	.|D|.	.|0.000160|.	T|T|.	0.64427|0.64427|.	0.2597|0.2597|.	L|L|L	0.60455|0.60455|0.60455	1.87|1.87|1.87	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;P;P|.	.|0.45827|.	.|0.867;0.843;0.867|.	.|P;P;P|.	.|0.58210|.	.|0.707;0.835;0.707|.	T|T|.	0.63097|0.63097|.	-0.6713|-0.6713|.	5|10|.	.|0.46703|.	.|T|.	.|0.11|.	-19.3019|-19.3019|-19.3019	12.7776|12.7776|12.7776	0.57457|0.57457|0.57457	0.0:0.1646:0.8354:0.0|0.0:0.1646:0.8354:0.0|0.0:0.1646:0.8354:0.0	.|.|.	.|245;262;245|.	.|A8K501;C9K060;O43709|.	.|.;.;WBS22_HUMAN|.	D|M|X	28|245;262|104	.|ENSP00000265758:V245M;ENSP00000401191:V262M|.	.|ENSP00000265758:V245M|.	G|V|W	+|+|+	2|1|3	0|0|0	WBSCR22|WBSCR22|WBSCR22	72749902|72749902|72749902	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.958000|0.958000|0.958000	0.39756|0.39756|0.39756	0.113000|0.113000|0.113000	0.19764|0.19764|0.19764	2.599000|2.599000|2.599000	0.46231|0.46231|0.46231	1.439000|1.439000|1.439000	0.47511|0.47511|0.47511	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GGT|GTG|TGG		PASS	0.647	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			7	65	7	65	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92905597	92905597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:92905597C>T	ENST00000305866.5	+	12	1050	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	CCDC132_ENST00000317751.6_Nonsense_Mutation_p.Q39*|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Nonsense_Mutation_p.Q278*|CCDC132_ENST00000541136.1_Nonsense_Mutation_p.Q119*|CCDC132_ENST00000251739.5_Nonsense_Mutation_p.Q308*	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	308						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.Q308*(2)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAAAAGCTGCAATATAAGGA	0.343																																						uc003umo.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(922-924)CAA>TAA		coiled-coil domain containing 132 isoform a							144.0	136.0	139.0					7																	92905597		2203	4300	6503	SO:0001587	stop_gained	55610							g.chr7:92905597C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.922C>T	7.37:g.92905597C>T	ENSP00000307666:p.Gln308*					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Nonsense_Mutation_p.Q278*|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Nonsense_Mutation_p.Q308*	p.Q308*	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		12	1050	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		308					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Nonsense_Mutation	SNP	ENST00000305866.5	37	c.922C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044452	0.93685	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.2354	19.9884	0.97356	0.0:1.0:0.0:0.0	.	.	.	.	X	308;308;278;119;39	.	ENSP00000251739:Q308X	Q	+	1	0	CCDC132	92743533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.809000	0.96659	0.655000	0.94253	CAA		PASS	0.343	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		54	131	54	131	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100377230	100377230	+	RNA	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:100377230G>T	ENST00000348028.3	+	0	6644				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2159T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TAGACCTCACGCCCTTCCTGG	0.677																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(6478-6480)ACG>ACT		zonadhesin isoform 3							30.0	34.0	32.0					7																	100377230		1930	4132	6062			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377230G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377230G>T						ZAN_uc003uwk.2_Silent_p.T2160T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.T247T	p.T2160T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		36	6645	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2160			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6480G>T																																																																																					PASS	0.677	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	13	5	13	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677564	100677565	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:100677564_100677565CC>AA	ENST00000306151.4	+	3	2931_2932	c.2867_2868CC>AA	c.(2866-2868)aCC>aAA	p.T956K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	956	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T956K(1)|p.T956T(1)|p.T956N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACCTGTGACCACTTCTACTG	0.5																																						uc003uxp.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2866-2868)ACC>AAC|c.(2866-2868)ACC>ACA		mucin 17 precursor																																				SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677564C>A|g.chr7:100677565C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	Exception_encountered	7.37:g.100677564_100677565delinsAA	ENSP00000302716:p.Thr956Lys					MUC17_uc010lho.1_RNA	p.T956N|p.T956T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2920|2921	+	Lung NSC(181;0.136)|all_lung(186;0.182)		956			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.		O14761|Q685J2|Q8TDH7	Missense_Mutation|Silent	SNP	ENST00000306151.4	37	c.2867C>A|c.2868C>A	CCDS34711.1																																																																																				PASS	0.500	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		87	365|366	87	365	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101747623	101747623	+	Silent	SNP	G	G	C	rs143157780	byFrequency	TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:101747623G>C	ENST00000292535.7	+	6	452	c.414G>C	c.(412-414)acG>acC	p.T138T	CUX1_ENST00000393824.3_Silent_p.T112T|CUX1_ENST00000360264.3_Silent_p.T149T|CUX1_ENST00000549414.2_Silent_p.T138T|CUX1_ENST00000437600.4_Silent_p.T149T|CUX1_ENST00000292538.4_Silent_p.T149T|CUX1_ENST00000547394.2_Silent_p.T133T|CUX1_ENST00000556210.1_Silent_p.T138T|CUX1_ENST00000550008.2_Silent_p.T138T|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Silent_p.T138T|CUX1_ENST00000425244.2_Silent_p.T103T	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	138					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.T138T(1)|p.T149T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGAGGTTACGATAAAAGCAC	0.393																																						uc003uyx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(412-414)ACG>ACC		cut-like homeobox 1 isoform a							111.0	113.0	113.0					7																	101747623		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101747623G>C	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.414G>C	7.37:g.101747623G>C						CUX1_uc003uys.3_Silent_p.T149T|CUX1_uc003uyt.2_Silent_p.T149T|CUX1_uc011kkn.1_Silent_p.T112T|CUX1_uc003uyw.2_Silent_p.T103T|CUX1_uc003uyv.2_Silent_p.T133T|CUX1_uc003uyu.2_Silent_p.T149T	p.T138T	NM_181552	NP_853530	P39880	CUX1_HUMAN			6	452	+			138			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.414G>C	CCDS5721.1																																																																																				PASS	0.393	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		44	169	44	169	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107599895	107599895	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:107599895T>C	ENST00000222399.6	-	20	2719	c.2489A>G	c.(2488-2490)aAt>aGt	p.N830S	LAMB1_ENST00000393561.1_Missense_Mutation_p.N854S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	830	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.N830S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCAGAAGGCATTGACAGATCC	0.498																																						uc003vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(2488-2490)AAT>AGT		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						65.0	53.0	57.0					7																	107599895		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107599895T>C	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2489A>G	7.37:g.107599895T>C	ENSP00000222399:p.Asn830Ser					LAMB1_uc003vev.2_Missense_Mutation_p.N854S	p.N830S	NM_002291	NP_002282	P07942	LAMB1_HUMAN			20	2824	-			830			Laminin EGF-like 7.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2489A>G	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	T	3.368	-0.129088	0.06753	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.60548	0.18;0.18	5.55	-7.75	0.01236	EGF-like, laminin (3);	.	.	.	.	T	0.23451	0.0567	N	0.01464	-0.85	0.20307	N	0.999918	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.48103	-0.9064	9	0.02654	T	1	.	16.4634	0.84071	0.0:0.5823:0.0:0.4177	.	830;854	P07942;G3XAI2	LAMB1_HUMAN;.	S	854;830	ENSP00000377191:N854S;ENSP00000222399:N830S	ENSP00000222399:N830S	N	-	2	0	LAMB1	107387131	0.000000	0.05858	0.057000	0.19452	0.987000	0.75469	-0.199000	0.09491	-1.797000	0.01252	0.533000	0.62120	AAT		PASS	0.498	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		22	81	22	81	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112535725	112535725	+	Silent	SNP	T	T	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:112535725T>A	ENST00000297145.4	-	3	537	c.372A>T	c.(370-372)gtA>gtT	p.V124V	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	124							rRNA (adenine) methyltransferase activity (GO:0016433)	p.V124V(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TAGTGGCAAGTACAGCTCTTT	0.353																																						uc003vgo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(370-372)GTA>GTT		hypothetical protein LOC154743							160.0	148.0	152.0					7																	112535725		1848	4099	5947	SO:0001819	synonymous_variant	154743							g.chr7:112535725T>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.372A>T	7.37:g.112535725T>A						C7orf60_uc011kms.1_Silent_p.V150V	p.V124V	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			3	499	-			124					Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	c.372A>T	CCDS43634.1																																																																																				PASS	0.353	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		38	137	38	137	---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117874559	117874559	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:117874559T>C	ENST00000265224.4	+	2	409	c.254T>C	c.(253-255)aTa>aCa	p.I85T	ANKRD7_ENST00000357099.4_Missense_Mutation_p.I105T|ANKRD7_ENST00000417525.1_Missense_Mutation_p.I32T|ANKRD7_ENST00000433239.1_Missense_Mutation_p.I32T|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	85					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.I105T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						CAATGCAAAATAAATGTCCGG	0.343																																						uc003vji.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)ATA>ACA		ankyrin repeat domain 7							112.0	104.0	107.0					7																	117874559		1830	4091	5921	SO:0001583	missense	56311				male gonad development			g.chr7:117874559T>C	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.254T>C	7.37:g.117874559T>C	ENSP00000265224:p.Ile85Thr						p.I85T	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			2	427	+			85			ANK 1.		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	c.254T>C	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144535	0.57044	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.66995	-0.24;-0.24;0.46;0.46	5.21	2.71	0.32032	Ankyrin repeat-containing domain (4);	0.336929	0.21766	N	0.069439	T	0.64560	0.2609	M	0.64997	1.995	0.27545	N	0.950672	B	0.29232	0.238	B	0.35073	0.195	T	0.60811	-0.7189	10	0.66056	D	0.02	-3.4142	10.2581	0.43410	0.264:0.0:0.0:0.736	.	85	Q92527	ANKR7_HUMAN	T	105;85;32;32	ENSP00000349612:I105T;ENSP00000265224:I85T;ENSP00000395595:I32T;ENSP00000388473:I32T	ENSP00000265224:I85T	I	+	2	0	ANKRD7	117661795	1.000000	0.71417	0.001000	0.08648	0.002000	0.02628	3.221000	0.51215	0.336000	0.23639	0.533000	0.62120	ATA		PASS	0.343	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		25	79	25	79	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123593967	123593967	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:123593967C>T	ENST00000439500.1	+	4	956	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	SPAM1_ENST00000402183.2_Missense_Mutation_p.P115S|SPAM1_ENST00000460182.1_Missense_Mutation_p.P115S|SPAM1_ENST00000340011.5_Missense_Mutation_p.P115S|SPAM1_ENST00000223028.7_Missense_Mutation_p.P115S	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	115					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.P115S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGAGGAATCCCCCAGAAGAT	0.398																																						uc003vld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)	4						c.(343-345)CCC>TCC		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						76.0	78.0	78.0					7																	123593967		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123593967C>T	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.343C>T	7.37:g.123593967C>T	ENSP00000402123:p.Pro115Ser					SPAM1_uc003vle.2_Missense_Mutation_p.P115S|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.P115S|SPAM1_uc010lku.2_Missense_Mutation_p.P115S	p.P115S	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	745	+			115					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.343C>T	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585545	0.66105	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	6.03	5.15	0.70609	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.109676	0.64402	D	0.000005	D	0.85813	0.5784	H	0.96861	3.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90550	0.4508	9	.	.	.	-34.2659	14.7005	0.69152	0.0:0.9307:0.0:0.0693	.	115;115	Q8TC30;P38567	.;HYALP_HUMAN	S	115	ENSP00000386028:P115S;ENSP00000417934:P115S;ENSP00000345849:P115S;ENSP00000402123:P115S;ENSP00000223028:P115S	.	P	+	1	0	SPAM1	123381203	1.000000	0.71417	0.809000	0.32408	0.172000	0.22775	6.093000	0.71422	1.552000	0.49463	0.655000	0.94253	CCC		PASS	0.398	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			63	151	63	151	---	---	---	---
CREB3L2	64764	broad.mit.edu	37	7	137590525	137590525	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:137590525G>A	ENST00000330387.6	-	6	1189	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P280S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	280					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.P280S(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GTGGGGATGGGATAGCCCTCA	0.517			T	FUS	fibromyxoid sarcoma																																	uc003vtw.2				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	1	Substitution - Missense(1)		lung(1)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(838-840)CCC>TCC		cAMP responsive element binding protein 3-like							155.0	160.0	159.0					7																	137590525		2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137590525G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.838C>T	7.37:g.137590525G>A	ENSP00000329140:p.Pro280Ser					CREB3L2_uc003vtx.1_Missense_Mutation_p.P280S|CREB3L2_uc003vtv.2_Missense_Mutation_p.P217S	p.P280S	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			6	1233	-			280			Cytoplasmic (Potential).		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.838C>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991360	0.93106	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.75821	-0.97;-0.97	5.65	5.65	0.86999	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84224	0.5425	M	0.66939	2.045	0.80722	D	1	P;D	0.55172	0.699;0.97	P;P	0.62382	0.542;0.901	T	0.81963	-0.0692	10	0.35671	T	0.21	-2.1811	19.7272	0.96168	0.0:0.0:1.0:0.0	.	280;280	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	S	280	ENSP00000329140:P280S;ENSP00000403550:P280S	ENSP00000329140:P280S	P	-	1	0	CREB3L2	137241065	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.684000	0.98659	2.646000	0.89796	0.655000	0.94253	CCC		PASS	0.517	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		104	234	104	234	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151878809	151878809	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:151878809G>T	ENST00000262189.6	-	36	6354	c.6136C>A	c.(6136-6138)Cca>Aca	p.P2046T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2046T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2046	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P2046T(2)									GGTTGCATTGGAGTCTTAAAA	0.483																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(6136-6138)CCA>ACA		myeloid/lymphoid or mixed-lineage leukemia 3							94.0	94.0	94.0					7																	151878809		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151878809G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6136C>A	7.37:g.151878809G>T	ENSP00000262189:p.Pro2046Thr					MLL3_uc003wkz.2_Missense_Mutation_p.P1107T	p.P2046T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	6355	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2046			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6136C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324536	0.60634	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.57273	0.41;0.41	5.56	5.56	0.83823	.	0.000000	0.44688	D	0.000429	T	0.66137	0.2759	L	0.36672	1.1	0.80722	D	1	D;P	0.89917	1.0;0.537	D;B	0.85130	0.997;0.391	T	0.66400	-0.5933	10	0.54805	T	0.06	.	19.511	0.95141	0.0:0.0:1.0:0.0	.	2046;1107	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2046	ENSP00000262189:P2046T;ENSP00000347325:P2046T	ENSP00000262189:P2046T	P	-	1	0	MLL3	151509742	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	9.807000	0.99171	2.609000	0.88269	0.563000	0.77884	CCA		PASS	0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			52	95	52	95	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3165292	3165292	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr8:3165292G>T	ENST00000520002.1	-	26	4433	c.3878C>A	c.(3877-3879)cCt>cAt	p.P1293H	CSMD1_ENST00000602557.1_Missense_Mutation_p.P1293H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1292H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1293H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1293H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1292H|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1292H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1293	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P1021H(1)|p.P1292H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGATAGCCAGGGGACAATAT	0.483																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3877-3879)CCT>CAT		CUB and Sushi multiple domains 1 precursor							148.0	148.0	148.0					8																	3165292		2031	4200	6231	SO:0001583	missense	64478					integral to membrane		g.chr8:3165292G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3878C>A	8.37:g.3165292G>T	ENSP00000430733:p.Pro1293His					CSMD1_uc011kwj.1_Missense_Mutation_p.P685H|CSMD1_uc003wqe.2_Missense_Mutation_p.P449H	p.P1293H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	25	4268	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1293			Extracellular (Potential).|CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3878C>A		.	.	.	.	.	.	.	.	.	.	G	22.7	4.317890	0.81469	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.61	4.61	0.57282	CUB (5);	0.000000	0.64402	D	0.000001	D	0.89767	0.6810	H	0.99347	4.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.94450	0.7666	10	0.72032	D	0.01	.	17.4557	0.87606	0.0:0.0:1.0:0.0	.	1293;1293;1293	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	H	1293;1293;1155;1292;1292;1292	ENSP00000383047:P1293H;ENSP00000430733:P1293H;ENSP00000441462:P1292H;ENSP00000446243:P1292H;ENSP00000441675:P1292H	ENSP00000320445:P1155H	P	-	2	0	CSMD1	3152699	1.000000	0.71417	0.728000	0.30774	0.816000	0.46133	9.606000	0.98325	2.118000	0.64928	0.650000	0.86243	CCT		PASS	0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		63	75	63	75	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38913123	38913123	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr8:38913123G>A	ENST00000487273.2	+	14	1501	c.1423G>A	c.(1423-1425)Gga>Aga	p.G475R		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	475	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G475R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTTATGCCGAGGAAAAACCAG	0.368																																						uc003xmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1423-1425)GGA>AGA		ADAM metallopeptidase domain 9 isoform 1							168.0	160.0	163.0					8																	38913123		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38913123G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1423G>A	8.37:g.38913123G>A	ENSP00000419446:p.Gly475Arg					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	p.G475R	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		14	1501	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	475			Extracellular (Potential).|Disintegrin.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1423G>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306351	0.40795	.	.	ENSG00000168615	ENST00000487273	T	0.10668	2.85	5.81	4.89	0.63831	Blood coagulation inhibitor, Disintegrin (5);	0.340153	0.35207	N	0.003368	T	0.11495	0.0280	N	0.04063	-0.285	0.09310	N	1	B	0.33964	0.434	P	0.48770	0.589	T	0.44360	-0.9333	10	0.23302	T	0.38	.	18.5361	0.91011	0.0:0.1269:0.8731:0.0	.	475	Q13443	ADAM9_HUMAN	R	475	ENSP00000419446:G475R	ENSP00000369249:G475R	G	+	1	0	ADAM9	39032280	0.998000	0.40836	0.987000	0.45799	0.998000	0.95712	3.486000	0.53215	2.736000	0.93811	0.655000	0.94253	GGA		PASS	0.368	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			60	674	60	674	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53586413	53586413	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr8:53586413T>A	ENST00000025008.5	-	7	1517	c.994A>T	c.(994-996)Atg>Ttg	p.M332L	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.M332L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.M332L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	332					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.M332L(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACCCTGCTCATAGAATCAAAG	0.318																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(994-996)ATG>TTG		Rb1-inducible coiled coil protein 1 isoform 1							63.0	56.0	58.0					8																	53586413		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53586413T>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.994A>T	8.37:g.53586413T>A	ENSP00000025008:p.Met332Leu					RB1CC1_uc003xrf.3_Missense_Mutation_p.M332L	p.M332L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			7	1552	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	332					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.994A>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	8.053	0.766456	0.15983	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.09163	3.01;3.01;3.01	5.4	5.4	0.78164	.	0.049752	0.85682	D	0.000000	T	0.05686	0.0149	N	0.12502	0.225	0.52501	D	0.999958	B;B	0.29988	0.264;0.172	B;B	0.21151	0.033;0.015	T	0.18493	-1.0335	10	0.06099	T	0.92	-18.4105	15.7245	0.77743	0.0:0.0:0.0:1.0	.	332;332	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	332	ENSP00000025008:M332L;ENSP00000396067:M332L;ENSP00000445960:M332L	ENSP00000025008:M332L	M	-	1	0	RB1CC1	53748966	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.249000	0.72427	2.165000	0.68154	0.460000	0.39030	ATG		PASS	0.318	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		41	61	41	61	---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121483082	121483082	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr8:121483082C>T	ENST00000305949.1	+	11	1115	c.1070C>T	c.(1069-1071)cCa>cTa	p.P357L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	357					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.P357L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGTATTGCCATGTACCATT	0.353																																						uc003ypc.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1069-1071)CCA>CTA		Mdm2, transformed 3T3 cell double minute 2, p53							171.0	163.0	166.0					8																	121483082		2202	4299	6501	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121483082C>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1070C>T	8.37:g.121483082C>T	ENSP00000303398:p.Pro357Leu					MTBP_uc011lie.1_RNA	p.P357L	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		11	1115	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		357					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1070C>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613505	0.66672	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.09	5.09	0.68999	.	0.212152	0.42682	D	0.000667	T	0.74419	0.3714	M	0.62723	1.935	0.46376	D	0.999016	D	0.57257	0.979	P	0.61658	0.892	T	0.76879	-0.2796	9	0.66056	D	0.02	-10.5893	15.7584	0.78054	0.0:1.0:0.0:0.0	.	357	Q96DY7	MTBP_HUMAN	L	357	.	ENSP00000303398:P357L	P	+	2	0	MTBP	121552263	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.815000	0.62634	2.501000	0.84356	0.643000	0.83706	CCA		PASS	0.353	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		19	175	19	175	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664915	124664915	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr8:124664915G>A	ENST00000325995.7	-	1	275	c.252C>T	c.(250-252)acC>acT	p.T84T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	84	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.T84T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCTGGTCCAGGGTTGGGGGGT	0.582																																						uc003yqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(250-252)ACC>ACT		kelch-like 38							74.0	83.0	80.0					8																	124664915		2069	4193	6262	SO:0001819	synonymous_variant	340359							g.chr8:124664915G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.252C>T	8.37:g.124664915G>A							p.T84T	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	276	-			84			BTB.		A0PK12	Silent	SNP	ENST00000325995.7	37	c.252C>T	CCDS43766.1																																																																																				PASS	0.582	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			30	69	30	69	---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145697332	145697332	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr8:145697332G>C	ENST00000301332.2	+	13	1765	c.1388G>C	c.(1387-1389)aGa>aCa	p.R463T	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_Missense_Mutation_p.R211T|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	463	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R463T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CAGGTCTTCAGAGAGCTGGAA	0.597																																						uc003zcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1387-1389)AGA>ACA		kinesin family member C2							70.0	70.0	70.0					8																	145697332		2203	4299	6502	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145697332G>C	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1388G>C	8.37:g.145697332G>C	ENSP00000301332:p.Arg463Thr					KIFC2_uc003zda.2_5'Flank	p.R463T	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		13	1453	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		463			Kinesin-motor.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.1388G>C	CCDS6427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.55|17.55	3.418038|3.418038	0.62622|0.62622	.|.	.|.	ENSG00000167702|ENSG00000167702	ENST00000528415|ENST00000301332;ENST00000301331	.|T;T	.|0.42900	.|0.96;0.96	4.97|4.97	4.09|4.09	0.47781|0.47781	.|Kinesin, motor domain (4);	.|0.204155	.|0.24438	.|N	.|0.038521	T|T	0.24236|0.24236	0.0587|0.0587	N|N	0.10782|0.10782	0.045|0.045	0.26790|0.26790	N|N	0.969423|0.969423	.|B	.|0.25486	.|0.127	.|B	.|0.29176	.|0.099	T|T	0.16630|0.16630	-1.0396|-1.0396	5|10	.|0.59425	.|D	.|0.04	-10.8448|-10.8448	7.8787|7.8787	0.29610|0.29610	0.1839:0.0:0.8161:0.0|0.1839:0.0:0.8161:0.0	.|.	.|463	.|Q96AC6	.|KIFC2_HUMAN	H|T	283|463;211	.|ENSP00000301332:R463T;ENSP00000301331:R211T	.|ENSP00000301331:R211T	Q|R	+|+	3|2	2|0	KIFC2|KIFC2	145668140|145668140	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.673000|0.673000	0.39480|0.39480	2.050000|2.050000	0.41297|0.41297	1.450000|1.450000	0.47717|0.47717	0.591000|0.591000	0.81541|0.81541	CAG|AGA		PASS	0.597	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		68	128	68	128	---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145697404	145697404	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr8:145697404G>A	ENST00000301332.2	+	13	1837	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_Missense_Mutation_p.G235D|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	487	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G487D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCCAGACAGGCACCGGGAAG	0.637																																						uc003zcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1459-1461)GGC>GAC		kinesin family member C2							74.0	72.0	73.0					8																	145697404		2203	4300	6503	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145697404G>A	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1460G>A	8.37:g.145697404G>A	ENSP00000301332:p.Gly487Asp					KIFC2_uc003zda.2_5'Flank	p.G487D	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		13	1525	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		487			ATP (By similarity).|Kinesin-motor.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.1460G>A	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060300	0.76074	.	.	ENSG00000167702	ENST00000301332;ENST00000301331	D;D	0.83506	-1.73;-1.73	4.97	4.09	0.47781	Kinesin, motor domain (5);	0.000000	0.34828	N	0.003650	D	0.93452	0.7911	H	0.96833	3.89	0.45108	D	0.99812	D	0.89917	1.0	D	0.97110	1.0	D	0.94588	0.7785	10	0.87932	D	0	-30.0404	11.6068	0.51037	0.0872:0.0:0.9128:0.0	.	487	Q96AC6	KIFC2_HUMAN	D	487;235	ENSP00000301332:G487D;ENSP00000301331:G235D	ENSP00000301331:G235D	G	+	2	0	KIFC2	145668212	1.000000	0.71417	0.029000	0.17559	0.659000	0.38960	7.307000	0.78920	1.450000	0.47717	0.591000	0.81541	GGC		PASS	0.637	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		63	120	63	120	---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145773748	145773748	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr8:145773748C>T	ENST00000276826.5	-	4	923	c.722G>A	c.(721-723)cGc>cAc	p.R241H	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R241H|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R241H			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	241	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R241H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCTGCGGGAGCGGACCCCAGG	0.692																																						uc003zdt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)CGC>CAC		KIAA1688 protein							21.0	22.0	21.0					8																	145773748		2196	4297	6493	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773748C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.722G>A	8.37:g.145773748C>T	ENSP00000276826:p.Arg241His					ARHGAP39_uc011llk.1_Missense_Mutation_p.R241H|ARHGAP39_uc003zds.1_Missense_Mutation_p.R241H	p.R241H	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			6	1277	-			241			Pro-rich.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.722G>A		.	.	.	.	.	.	.	.	.	.	C	7.640	0.680697	0.14907	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.22134	1.97;1.97;1.97	5.36	4.47	0.54385	.	0.336213	0.28549	N	0.014949	T	0.17874	0.0429	L	0.47716	1.5	0.23132	N	0.998242	B;B	0.14805	0.011;0.003	B;B	0.11329	0.006;0.005	T	0.21280	-1.0250	10	0.16420	T	0.52	-13.2	10.9948	0.47569	0.0:0.9065:0.0:0.0935	.	241;241	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	H	241	ENSP00000276826:R241H;ENSP00000366522:R241H;ENSP00000445075:R241H	ENSP00000276826:R241H	R	-	2	0	ARHGAP39	145744556	0.993000	0.37304	0.753000	0.31225	0.801000	0.45260	3.156000	0.50708	1.227000	0.43598	0.655000	0.94253	CGC		PASS	0.692	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			6	30	6	30	---	---	---	---
PLPPR1	54886	broad.mit.edu	37	9	104048410	104048410	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr9:104048410T>C	ENST00000374874.3	+	4	716	c.277T>C	c.(277-279)Tat>Cat	p.Y93H	LPPR1_ENST00000395056.2_Missense_Mutation_p.Y93H	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		93					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.Y93H(1)									GATATCCATGTATTTCATAAA	0.373																																						uc004bbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)TAT>CAT		plasticity related gene 3							94.0	93.0	93.0					9																	104048410		2203	4300	6503	SO:0001583	missense	54886					integral to membrane	catalytic activity	g.chr9:104048410T>C																												ENST00000374874.3:c.277T>C	9.37:g.104048410T>C	ENSP00000364008:p.Tyr93His					LPPR1_uc011lvi.1_Missense_Mutation_p.Y69H|LPPR1_uc004bbc.2_Missense_Mutation_p.Y93H|LPPR1_uc010mtc.2_Missense_Mutation_p.Y77H	p.Y93H	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN			4	676	+			93					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.277T>C	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680705	0.88542	.	.	ENSG00000148123	ENST00000374874;ENST00000456287;ENST00000374871;ENST00000395056	T;T	0.33654	1.4;1.4	5.93	5.93	0.95920	.	0.064020	0.64402	D	0.000004	T	0.50257	0.1605	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.61697	0.988;0.99	P;P	0.53146	0.719;0.675	T	0.45963	-0.9225	10	0.27082	T	0.32	-21.8633	15.5651	0.76284	0.0:0.0:0.0:1.0	.	77;93	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	H	93	ENSP00000364008:Y93H;ENSP00000378496:Y93H	ENSP00000364005:Y93H	Y	+	1	0	RP11-35N6.1	103088231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.258000	0.74832	0.533000	0.62120	TAT		PASS	0.373	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			52	124	52	124	---	---	---	---
PLPPR1	54886	broad.mit.edu	37	9	104048506	104048506	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr9:104048506A>G	ENST00000374874.3	+	4	812	c.373A>G	c.(373-375)Ata>Gta	p.I125V	LPPR1_ENST00000395056.2_Missense_Mutation_p.I125V	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		125					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.I125V(1)									TCGAAGGATCATAAGATTCAC	0.368																																						uc004bbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)ATA>GTA		plasticity related gene 3							89.0	83.0	85.0					9																	104048506		2203	4300	6503	SO:0001583	missense	54886					integral to membrane	catalytic activity	g.chr9:104048506A>G																												ENST00000374874.3:c.373A>G	9.37:g.104048506A>G	ENSP00000364008:p.Ile125Val					LPPR1_uc011lvi.1_Missense_Mutation_p.I101V|LPPR1_uc004bbc.2_Missense_Mutation_p.I125V|LPPR1_uc010mtc.2_Missense_Mutation_p.I109V	p.I125V	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN			4	772	+			125					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.373A>G	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	A	3.153	-0.173750	0.06421	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.35236	1.32;1.32	5.63	-1.01	0.10169	.	0.218760	0.45126	N	0.000397	T	0.12178	0.0296	N	0.02960	-0.455	0.41553	D	0.98858	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.27226	-1.0080	10	0.09590	T	0.72	-44.9158	10.2273	0.43233	0.6747:0.0:0.3253:0.0	.	109;125	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	V	125	ENSP00000364008:I125V;ENSP00000378496:I125V	ENSP00000364005:I125V	I	+	1	0	RP11-35N6.1	103088327	1.000000	0.71417	0.927000	0.36925	0.987000	0.75469	1.413000	0.34725	-0.339000	0.08401	0.533000	0.62120	ATA		PASS	0.368	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			45	87	45	87	---	---	---	---
PRPF4	9128	broad.mit.edu	37	9	116049074	116049074	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr9:116049074G>A	ENST00000374198.4	+	9	1003	c.901G>A	c.(901-903)Gct>Act	p.A301T	PRPF4_ENST00000374199.4_Missense_Mutation_p.A300T	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	301					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.A301T(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CTCTTGTGCGGCTGATGGCTC	0.478																																						uc004bgx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(901-903)GCT>ACT		PRP4 pre-mRNA processing factor 4 homolog							351.0	351.0	351.0					9																	116049074		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049074G>A	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.901G>A	9.37:g.116049074G>A	ENSP00000363313:p.Ala301Thr					PRPF4_uc004bgy.2_Missense_Mutation_p.A300T	p.A301T	NM_004697	NP_004688	O43172	PRP4_HUMAN			9	951	+			301			WD 2.		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.901G>A	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732796	0.89482	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61510	0.1;0.1	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	L	0.35854	1.095	0.80722	D	1	B;B	0.32188	0.359;0.359	B;B	0.34242	0.178;0.178	T	0.43130	-0.9410	10	0.25751	T	0.34	.	19.0872	0.93209	0.0:0.0:1.0:0.0	.	316;301	Q59EL4;O43172	.;PRP4_HUMAN	T	300;301	ENSP00000363315:A300T;ENSP00000363313:A301T	ENSP00000363313:A301T	A	+	1	0	PRPF4	115088895	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.490000	0.81461	2.752000	0.94435	0.655000	0.94253	GCT		PASS	0.478	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		229	424	229	424	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126429330	126429330	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr9:126429330C>A	ENST00000373624.2	-	8	683	c.482G>T	c.(481-483)aGa>aTa	p.R161I	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.R129I|DENND1A_ENST00000394215.2_Missense_Mutation_p.R131I|DENND1A_ENST00000373620.3_Missense_Mutation_p.R161I|DENND1A_ENST00000373618.1_Missense_Mutation_p.R129I	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	161	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R161I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGAAGTTCTCTGGTATCAGG	0.303																																						uc004bnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(481-483)AGA>ATA		DENN/MADD domain containing 1A isoform 1							66.0	68.0	68.0					9																	126429330		2203	4299	6502	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126429330C>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.482G>T	9.37:g.126429330C>A	ENSP00000362727:p.Arg161Ile					DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Missense_Mutation_p.R129I|DENND1A_uc004boa.1_Missense_Mutation_p.R161I|DENND1A_uc004bob.1_Missense_Mutation_p.R131I|DENND1A_uc004boc.2_Missense_Mutation_p.R129I	p.R161I	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			8	715	-			161			DENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.482G>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359593	0.61403	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.45	5.45	0.79879	DENN (3);	0.095673	0.64402	D	0.000001	T	0.13798	0.0334	L	0.49571	1.57	0.80722	D	1	B;B;P;B;B	0.36048	0.028;0.05;0.534;0.05;0.078	B;B;B;B;B	0.38842	0.054;0.037;0.283;0.037;0.18	T	0.07520	-1.0768	10	0.21540	T	0.41	-13.7565	16.0153	0.80434	0.0:1.0:0.0:0.0	.	129;129;131;161;161	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;DEN1A_HUMAN	I	161;129;161;131;129	ENSP00000362727:R161I;ENSP00000377766:R129I;ENSP00000362722:R161I;ENSP00000377763:R131I;ENSP00000362720:R129I	ENSP00000362720:R129I	R	-	2	0	DENND1A	125469151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.297000	0.51810	2.563000	0.86464	0.650000	0.86243	AGA		PASS	0.303	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		4	165	4	165	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131030746	131030746	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr9:131030746C>A	ENST00000421699.2	-	3	277	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C	GOLGA2_ENST00000609374.1_Missense_Mutation_p.G77C	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	89					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.G77C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GAAGGGACACCGCCAGGTAAC	0.577																																						uc011maw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(265-267)GGT>TGT		Golgi autoantigen, golgin subfamily a, 2							94.0	66.0	76.0					9																	131030746		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131030746C>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.265G>T	9.37:g.131030746C>A	ENSP00000416097:p.Gly89Cys					GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_5'UTR|GOLGA2_uc004bum.1_5'UTR	p.G89C	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			3	278	-			89			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.265G>T	CCDS6896.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.91|16.91	3.253459|3.253459	0.59212|0.59212	.|.	.|.	ENSG00000167110|ENSG00000167110	ENST00000421699;ENST00000450617|ENST00000458730	T;T|.	0.14640|.	2.49;2.49|.	5.78|5.78	-2.36|-2.36	0.06663|0.06663	.|.	0.948450|.	0.08859|.	N|.	0.883256|.	T|T	0.10637|0.10637	0.0260|0.0260	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|.	0.71674|.	0.998|.	D|.	0.63113|.	0.911|.	T|T	0.28202|0.28202	-1.0051|-1.0051	10|5	0.49607|.	T|.	0.09|.	.|.	1.4989|1.4989	0.02472|0.02472	0.1466:0.2744:0.1429:0.436|0.1466:0.2744:0.1429:0.436	.|.	89|.	Q08379|.	GOGA2_HUMAN|.	C|L	89;116|48	ENSP00000416097:G89C;ENSP00000409271:G116C|.	ENSP00000416097:G89C|.	G|R	-|-	1|2	0|0	GOLGA2|GOLGA2	130070567|130070567	0.010000|0.010000	0.17322|0.17322	0.040000|0.040000	0.18447|0.18447	0.257000|0.257000	0.26127|0.26127	-0.232000|-0.232000	0.09055|0.09055	-0.100000|-0.100000	0.12241|0.12241	-0.471000|-0.471000	0.05019|0.05019	GGT|CGG		PASS	0.577	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		20	43	20	43	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18250558	18250558	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:18250558G>T	ENST00000377369.2	+	3	583	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	SLC39A12_ENST00000377374.4_Missense_Mutation_p.D104Y|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D104Y|SLC39A12_ENST00000539911.1_5'UTR	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	104					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.D104Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAATTTTGAAGATCAGCTTAG	0.358																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(310-312)GAT>TAT		solute carrier family 39 (zinc transporter),							86.0	91.0	89.0					10																	18250558		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250558G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.310G>T	10.37:g.18250558G>T	ENSP00000366586:p.Asp104Tyr					SLC39A12_uc001ipn.2_Missense_Mutation_p.D104Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.D104Y|SLC39A12_uc010qck.1_5'UTR	p.D104Y	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			3	583	+			104			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.310G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736347	0.30774	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.25414	1.8;1.8;1.8	5.43	5.43	0.79202	.	0.421475	0.25881	N	0.027693	T	0.40719	0.1128	L	0.60455	1.87	0.51233	D	0.999915	D;D;D	0.58620	0.983;0.971;0.983	P;P;P	0.59889	0.865;0.736;0.865	T	0.22521	-1.0214	10	0.72032	D	0.01	-4.2999	9.8494	0.41048	0.1521:0.0:0.8479:0.0	.	104;104;104	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	Y	104;104;104;24	ENSP00000366586:D104Y;ENSP00000366591:D104Y;ENSP00000366588:D104Y	ENSP00000366586:D104Y	D	+	1	0	SLC39A12	18290564	1.000000	0.71417	0.521000	0.27850	0.799000	0.45148	4.055000	0.57441	2.537000	0.85549	0.650000	0.86243	GAT		PASS	0.358	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		37	101	37	101	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26377272	26377272	+	Silent	SNP	G	G	T	rs146797033	byFrequency	TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:26377272G>T	ENST00000265944.5	+	15	1666	c.1500G>T	c.(1498-1500)gcG>gcT	p.A500A	MYO3A_ENST00000543632.1_Silent_p.A500A	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	500	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A500A(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTCTGGAGCGGTAGTGGGAG	0.383																																						uc001isn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1498-1500)GCG>GCT		myosin IIIA							68.0	70.0	69.0					10																	26377272		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377272G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1500G>T	10.37:g.26377272G>T						MYO3A_uc009xko.1_Silent_p.A500A|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.A500A	p.A500A	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			15	1860	+			500			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1500G>T	CCDS7148.1																																																																																				PASS	0.383	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		36	87	36	87	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37438704	37438704	+	Splice_Site	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:37438704G>T	ENST00000602533.1	+	11	1503		c.e11-1		ANKRD30A_ENST00000361713.1_Splice_Site|ANKRD30A_ENST00000374660.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCCATTTAGCCTGCCATTG	0.279																																						uc001iza.1																			1	Unknown(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.e11-1		ankyrin repeat domain 30A							104.0	96.0	99.0					10																	37438704		1799	4060	5859	SO:0001630	splice_region_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37438704G>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1405-1G>T	10.37:g.37438704G>T							p.P469_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			11	1504	+								Q5W025	Splice_Site	SNP	ENST00000602533.1	37	c.1405_splice		.	.	.	.	.	.	.	.	.	.	g	2.941	-0.218929	0.06101	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	1.28	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.23336	N	0.997884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0084	0.19559	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD30A	37478710	0.597000	0.26874	0.013000	0.15412	0.002000	0.02628	1.370000	0.34238	1.008000	0.39264	0.409000	0.27619	.		PASS	0.279	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Intron	34	114	34	114	---	---	---	---
NPY4R	5540	broad.mit.edu	37	10	47086886	47086886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:47086886C>T	ENST00000395716.1	+	2	188	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	NPY4R_ENST00000374312.1_Nonsense_Mutation_p.Q35*			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	35					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.Q35*(1)									TGAACATTGCCAGGATTCCGT	0.532																																						uc001jee.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(103-105)CAG>TAG		pancreatic polypeptide receptor 1							187.0	168.0	174.0					10																	47086886		2203	4300	6503	SO:0001587	stop_gained	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47086886C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.103C>T	10.37:g.47086886C>T	ENSP00000379066:p.Gln35*					ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Nonsense_Mutation_p.Q35*	p.Q35*	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	522	+			35			Extracellular (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Nonsense_Mutation	SNP	ENST00000395716.1	37	c.103C>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652851	0.67472	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	.	.	.	4.78	3.85	0.44370	.	0.367392	0.29034	N	0.013341	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	10.6721	0.45764	0.3459:0.6541:0.0:0.0	.	.	.	.	X	35	.	ENSP00000363431:Q35X	Q	+	1	0	PPYR1	46506892	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	0.945000	0.29056	1.293000	0.44690	0.655000	0.94253	CAG		PASS	0.532	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			9	184	9	184	---	---	---	---
C10orf53	282966	broad.mit.edu	37	10	50916591	50916591	+	Nonsense_Mutation	SNP	T	T	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:50916591T>A	ENST00000374112.3	+	3	414	c.402T>A	c.(400-402)tgT>tgA	p.C134*	C10orf53_ENST00000535836.1_Nonsense_Mutation_p.C134*	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0								p.C134*(1)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				ccaatctttgtgacctgggtt	0.483																																						uc001jid.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(400-402)TGT>TGA		chromosome 10 open reading frame 53 isoform a							127.0	126.0	127.0					10																	50916591		2203	4300	6503	SO:0001587	stop_gained	282966							g.chr10:50916591T>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.402T>A	10.37:g.50916591T>A	ENSP00000363226:p.Cys134*						p.C134*	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN			3	462	+		all_neural(218;0.107)	Error:Variant_position_missing_in_Q8N6V4_after_alignment					A6NI81|A6NLE0|B9ZVK6	Nonsense_Mutation	SNP	ENST00000374112.3	37	c.402T>A	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	T	9.307	1.054583	0.19907	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.87	0.618	0.17624	.	.	.	.	.	.	.	.	.	.	.	0.50313	A	0.999861	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9042	0.09176	0.325:0.0:0.0:0.675	.	.	.	.	X	134	.	ENSP00000363226:C134X	C	+	3	2	C10orf53	50586597	0.033000	0.19621	0.023000	0.16930	0.061000	0.15899	0.362000	0.20284	0.149000	0.19098	0.402000	0.26972	TGT		PASS	0.483	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	NM_182554		18	165	18	165	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582055	55582055	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:55582055G>C	ENST00000320301.6	-	33	5825	c.5431C>G	c.(5431-5433)Cta>Gta	p.L1811V	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1771V|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1742V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1808V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L1813V|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1788V|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1811					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L1811V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				aatggaggtagaagaggtggT	0.502										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5431-5433)CTA>GTA		protocadherin 15 isoform CD1-4 precursor							76.0	65.0	69.0					10																	55582055		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582055G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5431C>G	10.37:g.55582055G>C	ENSP00000322604:p.Leu1811Val	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1808V|PCDH15_uc010qhw.1_Missense_Mutation_p.L1771V|PCDH15_uc010qhx.1_Missense_Mutation_p.L1742V|PCDH15_uc010qhy.1_Missense_Mutation_p.L1818V|PCDH15_uc010qhz.1_Missense_Mutation_p.L1813V|PCDH15_uc010qia.1_Missense_Mutation_p.L1791V|PCDH15_uc010qib.1_Missense_Mutation_p.L1788V	p.L1811V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5826	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1811			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5431C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	9.646	1.140353	0.21205	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.58210	0.43;0.4;0.44;0.35;0.35;0.35	4.31	2.44	0.29823	.	.	.	.	.	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.27498	0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18	B;B;B;B;B;B;B;B	0.18871	0.023;0.023;0.023;0.023;0.023;0.023;0.023;0.023	T	0.14090	-1.0485	9	0.33940	T	0.23	.	9.7524	0.40483	0.1786:0.0:0.8214:0.0	.	1788;1811;1813;1818;1742;1771;1808;1811	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	V	1771;1813;1788;1811;1808;1818;1742	ENSP00000378820:L1771V;ENSP00000354950:L1813V;ENSP00000378821:L1788V;ENSP00000322604:L1811V;ENSP00000378818:L1808V;ENSP00000412628:L1742V	ENSP00000322604:L1811V	L	-	1	2	PCDH15	55252061	0.046000	0.20272	0.000000	0.03702	0.034000	0.12701	2.671000	0.46842	0.547000	0.28938	-0.136000	0.14681	CTA		PASS	0.502	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	30	7	30	---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74684033	74684033	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:74684033C>A	ENST00000334011.5	+	7	1216	c.998C>A	c.(997-999)cCc>cAc	p.P333H		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	333	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.P333H(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACAGGTCTACCCAAGCAGACC	0.552																																					Colon(7;19 345 13446 17537)	uc001jte.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(997-999)CCC>CAC		oncoprotein-induced transcript 3 precursor							84.0	83.0	83.0					10																	74684033		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74684033C>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.998C>A	10.37:g.74684033C>A	ENSP00000333900:p.Pro333His					OIT3_uc009xqs.1_Intron	p.P333H	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			7	1216	+	Prostate(51;0.0198)		333			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.998C>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472273	0.63737	.	.	ENSG00000138315	ENST00000334011	D	0.83075	-1.68	5.72	4.8	0.61643	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000020	D	0.89111	0.6622	M	0.66939	2.045	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.86510	0.1809	10	0.15499	T	0.54	-18.7494	16.5226	0.84321	0.0:0.8691:0.1309:0.0	.	333	Q8WWZ8	OIT3_HUMAN	H	333	ENSP00000333900:P333H	ENSP00000333900:P333H	P	+	2	0	OIT3	74354039	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	5.813000	0.69201	1.375000	0.46248	0.655000	0.94253	CCC		PASS	0.552	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		21	161	21	161	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104174911	104174911	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:104174911C>A	ENST00000020673.5	-	4	1359	c.833G>T	c.(832-834)gGg>gTg	p.G278V	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.G278V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	278					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.G63V(1)|p.G278V(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGCTGCTCGCCCCACAGCCAC	0.657																																						uc001kvg.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|urinary_tract(1)	3						c.(832-834)GGG>GTG		pleckstrin and Sec7 domain containing							34.0	36.0	35.0					10																	104174911		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104174911C>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.833G>T	10.37:g.104174911C>A	ENSP00000020673:p.Gly278Val					PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.G278V	p.G278V	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	4	1360	-			278					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.833G>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923047	0.92319	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.44083	0.93;0.93	5.31	5.31	0.75309	.	0.549745	0.19660	N	0.108987	T	0.51075	0.1653	L	0.27053	0.805	0.58432	D	0.999999	D	0.69078	0.997	D	0.64237	0.923	T	0.51084	-0.8750	10	0.49607	T	0.09	.	17.5297	0.87810	0.0:1.0:0.0:0.0	.	278	A5PKW4	PSD1_HUMAN	V	278;181;278	ENSP00000020673:G278V;ENSP00000384830:G278V	ENSP00000020673:G278V	G	-	2	0	PSD	104164901	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.025000	0.64097	2.484000	0.83849	0.561000	0.74099	GGG		PASS	0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			13	60	13	60	---	---	---	---
BCCIP	56647	broad.mit.edu	37	10	127524721	127524721	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:127524721T>A	ENST00000278100.6	+	7	835	c.823T>A	c.(823-825)Tgt>Agt	p.C275S	BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	275					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)	p.C275S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGCGACACTTGTCTGGGAGG	0.423																																						uc001ljb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(823-825)TGT>AGT		BRCA2 and CDKN1A-interacting protein isoform							213.0	186.0	195.0					10																	127524721		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127524721T>A	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.823T>A	10.37:g.127524721T>A	ENSP00000278100:p.Cys275Ser					BCCIP_uc001ljd.3_Intron|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	p.C275S	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN			7	846	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	275					B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.823T>A	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	T	7.590	0.670655	0.14776	.	.	ENSG00000107949	ENST00000278100;ENST00000392718	T	0.39997	1.05	5.08	1.32	0.21799	.	.	.	.	.	T	0.32346	0.0826	L	0.55481	1.735	0.80722	D	1	B	0.28233	0.204	B	0.24701	0.055	T	0.06092	-1.0846	9	0.17369	T	0.5	.	8.8053	0.34934	0.0:0.2879:0.0:0.7121	.	275	Q9P287	BCCIP_HUMAN	S	275	ENSP00000278100:C275S	ENSP00000278100:C275S	C	+	1	0	BCCIP	127514711	0.963000	0.33076	0.517000	0.27799	0.456000	0.32438	1.672000	0.37523	0.105000	0.17753	0.533000	0.62120	TGT		PASS	0.423	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			31	190	31	190	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129905711	129905711	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr10:129905711C>G	ENST00000368654.3	-	13	4768	c.4393G>C	c.(4393-4395)Gaa>Caa	p.E1465Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1105Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1465	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1465Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAGGTCTTCTAGGGGTTGG	0.498																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4393-4395)GAA>CAA		antigen identified by monoclonal antibody Ki-67							227.0	223.0	225.0					10																	129905711		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905711C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4393G>C	10.37:g.129905711C>G	ENSP00000357643:p.Glu1465Gln					MKI67_uc001lkf.2_Missense_Mutation_p.E1105Q|MKI67_uc009yav.1_Missense_Mutation_p.E1040Q|MKI67_uc009yaw.1_Missense_Mutation_p.E615Q	p.E1465Q	NM_002417	NP_002408	P46013	KI67_HUMAN			13	4588	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1465			16 X 122 AA approximate repeats.|4.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4393G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493431	0.44352	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04502	3.61;3.61	3.61	3.61	0.41365	.	.	.	.	.	T	0.18964	0.0455	M	0.76170	2.325	0.23988	N	0.996257	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.974;0.994;0.999	T	0.03887	-1.0995	9	0.31617	T	0.26	.	12.4354	0.55596	0.0:1.0:0.0:0.0	.	1464;1105;1465	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1465;1105;1464	ENSP00000357643:E1465Q;ENSP00000357642:E1105Q	ENSP00000357642:E1105Q	E	-	1	0	MKI67	129795701	0.893000	0.30496	0.546000	0.28166	0.196000	0.23810	3.648000	0.54410	2.020000	0.59435	0.561000	0.74099	GAA		PASS	0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		57	231	57	231	---	---	---	---
OR52A1	23538	broad.mit.edu	37	11	5173278	5173278	+	Missense_Mutation	SNP	T	T	C	rs528595621		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:5173278T>C	ENST00000380367.1	-	2	739	c.322A>G	c.(322-324)Aca>Gca	p.T108A	OR52A1_ENST00000328942.1_Missense_Mutation_p.T108A			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	108					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.T108A(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGCAATGTGTGGATGAAC	0.453																																						uc010qyy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(322-324)ACA>GCA		olfactory receptor, family 52, subfamily A,							84.0	64.0	71.0					11																	5173278		2201	4297	6498	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173278T>C	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.322A>G	11.37:g.5173278T>C	ENSP00000369725:p.Thr108Ala						p.T108A	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	322	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	108			Helical; Name=3; (Potential).		Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.322A>G	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	T	3.834	-0.035234	0.07543	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00452	7.34;7.34	5.06	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.245669	0.28921	N	0.013706	T	0.00210	0.0006	N	0.26042	0.785	0.09310	N	0.999993	B	0.10296	0.003	B	0.10450	0.005	T	0.37407	-0.9707	10	0.08837	T	0.75	.	4.4194	0.11472	0.4504:0.0922:0.0:0.4574	.	108	Q9UKL2	O52A1_HUMAN	A	108	ENSP00000369725:T108A;ENSP00000333684:T108A	ENSP00000333684:T108A	T	-	1	0	OR52A1	5129854	0.003000	0.15002	0.199000	0.23439	0.661000	0.39034	-0.004000	0.12878	0.363000	0.24346	0.482000	0.46254	ACA		PASS	0.453	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		4	32	4	32	---	---	---	---
TRIM22	10346	broad.mit.edu	37	11	5730645	5730645	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:5730645G>C	ENST00000379965.3	+	8	1541	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	422	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E422Q(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TAATGCTTTTGAGGACTCCTC	0.408																																					GBM(104;491 2336 5222)	uc001mbr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1264-1266)GAG>CAG		tripartite motif-containing 22							87.0	97.0	93.0					11																	5730645		2194	4296	6490	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730645G>C	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1264G>C	11.37:g.5730645G>C	ENSP00000369299:p.Glu422Gln					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.E418Q|TRIM22_uc010qzm.1_Missense_Mutation_p.E250Q|TRIM22_uc009yeu.2_Missense_Mutation_p.E233Q|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	p.E422Q	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1541	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	422			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.1264G>C	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562225	0.45694	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.60797	0.16	3.78	1.81	0.25067	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.64327	0.2588	M	0.64997	1.995	0.09310	N	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.996	T	0.52902	-0.8513	9	0.16420	T	0.52	.	3.3201	0.07047	0.2248:0.2405:0.5348:0.0	.	344;418;422	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	Q	422;233;344	ENSP00000369299:E422Q	ENSP00000369299:E422Q	E	+	1	0	TRIM22	5687221	0.008000	0.16893	0.133000	0.22050	0.482000	0.33219	1.358000	0.34102	0.863000	0.35553	0.467000	0.42956	GAG		PASS	0.408	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		15	177	15	177	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048128	6048128	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:6048128G>A	ENST00000316650.5	-	1	843	c.807C>T	c.(805-807)aaC>aaT	p.N269N		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N269N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTGGCCACGTTTGTCAACA	0.522																																						uc010qzw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(805-807)AAC>AAT		olfactory receptor, family 56, subfamily A,							105.0	100.0	102.0					11																	6048128		2201	4296	6497	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048128G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.807C>T	11.37:g.6048128G>A							p.N269N	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	807	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	269			Extracellular (Potential).		B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.807C>T	CCDS31405.1																																																																																				PASS	0.522	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		49	114	49	114	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9200611	9200611	+	Missense_Mutation	SNP	G	G	A	rs557614928		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:9200611G>A	ENST00000328194.3	-	7	1785	c.1465C>T	c.(1465-1467)Cgt>Tgt	p.R489C	DENND5A_ENST00000530044.1_Missense_Mutation_p.R489C|DENND5A_ENST00000526523.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	489					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R489C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGTCTTCACGCACTTCCAAC	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19772	0.0		0.0	False		,,,				2504	0.0					uc001mhl.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(1465-1467)CGT>TGT		RAB6 interacting protein 1							115.0	102.0	106.0					11																	9200611		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9200611G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1465C>T	11.37:g.9200611G>A	ENSP00000328524:p.Arg489Cys					DENND5A_uc010rbw.1_Missense_Mutation_p.R489C|DENND5A_uc010rbx.1_RNA	p.R489C	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			7	1720	-			489					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.1465C>T	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400405	0.42613	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.52754	0.65;0.65	4.79	3.86	0.44501	.	0.291374	0.30949	N	0.008547	T	0.45316	0.1336	L	0.44542	1.39	0.80722	D	1	D;D	0.57899	0.981;0.965	P;P	0.46339	0.513;0.513	T	0.47420	-0.9119	10	0.56958	D	0.05	.	13.5597	0.61782	0.0772:0.0:0.9228:0.0	.	489;489	E9PS91;Q6IQ26	.;DEN5A_HUMAN	C	489	ENSP00000328524:R489C;ENSP00000435866:R489C	ENSP00000328524:R489C	R	-	1	0	DENND5A	9157187	1.000000	0.71417	0.969000	0.41365	0.435000	0.31806	4.190000	0.58365	1.100000	0.41517	0.655000	0.94253	CGT		PASS	0.363	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		44	118	44	118	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18194896	18194896	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:18194896G>A	ENST00000314254.3	+	1	513	c.93G>A	c.(91-93)acG>acA	p.T31T	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T31T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGAGCTTCACGGTGCTGACGT	0.547																																						uc001mnv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(91-93)ACG>ACA		MAS-related GPR, member X4							178.0	161.0	167.0					11																	18194896		2199	4293	6492	SO:0001819	synonymous_variant	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18194896G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.93G>A	11.37:g.18194896G>A							p.T31T	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	513	+			31			Extracellular (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Silent	SNP	ENST00000314254.3	37	c.93G>A	CCDS7831.1																																																																																				PASS	0.547	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		64	192	64	192	---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27395522	27395522	+	Splice_Site	SNP	A	A	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:27395522A>C	ENST00000379214.4	-	14	1696	c.1253T>G	c.(1252-1254)cTa>cGa	p.L418R	LGR4_ENST00000389858.4_Splice_Site_p.L394R	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	418					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.L418R(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATCCACTTACAGGTTAGTTAT	0.328																																						uc001mrj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1252-1254)CTA>CGA		leucine-rich repeat-containing G protein-coupled							223.0	226.0	225.0					11																	27395522		2202	4299	6501	SO:0001630	splice_region_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27395522A>C	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1253+1T>G	11.37:g.27395522A>C						LGR4_uc001mrk.3_Missense_Mutation_p.L394R	p.L418R	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			14	1738	-			418			LRR 15.|Extracellular (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.1253T>G	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352674	0.82132	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.59083	2.53;0.29	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	D	0.83801	0.5333	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89280	0.3611	9	.	.	.	.	13.555	0.61756	1.0:0.0:0.0:0.0	.	394;418	G5E9B3;Q9BXB1	.;LGR4_HUMAN	R	418;394	ENSP00000368516:L418R;ENSP00000374508:L394R	.	L	-	2	0	LGR4	27352098	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.392000	0.90180	1.951000	0.56629	0.528000	0.53228	CTA		PASS	0.328	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	Missense_Mutation	96	347	96	347	---	---	---	---
OR4B1	119765	broad.mit.edu	37	11	48238741	48238741	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:48238741C>T	ENST00000309562.2	+	1	398	c.380C>T	c.(379-381)cCt>cTt	p.P127L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P127L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATTTGCAAGCCTCTTCATTAT	0.463																																						uc010rhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(379-381)CCT>CTT		olfactory receptor, family 4, subfamily B,							124.0	118.0	120.0					11																	48238741		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238741C>T	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.380C>T	11.37:g.48238741C>T	ENSP00000311605:p.Pro127Leu						p.P127L	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	380	+			127			Cytoplasmic (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.380C>T	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101683	0.76983	.	.	ENSG00000175619	ENST00000309562	T	0.01902	4.57	5.38	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000056	T	0.18635	0.0447	H	0.95539	3.685	0.52501	D	0.999953	D	0.89917	1.0	D	0.91635	0.999	T	0.03453	-1.1035	10	0.87932	D	0	.	11.7324	0.51746	0.0:0.9139:0.0:0.0861	.	127	Q8NGF8	OR4B1_HUMAN	L	127	ENSP00000311605:P127L	ENSP00000311605:P127L	P	+	2	0	OR4B1	48195317	1.000000	0.71417	0.311000	0.25182	0.933000	0.57130	7.601000	0.82783	1.256000	0.44068	0.494000	0.49563	CCT		PASS	0.463	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		61	112	61	112	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872975	55872975	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:55872975T>C	ENST00000313503.1	+	1	457	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F153L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTGATTGGCTTTATAGACTC	0.443										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(457-459)TTT>CTT		olfactory receptor, family 8, subfamily H,							219.0	196.0	203.0					11																	55872975		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872975T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.457T>C	11.37:g.55872975T>C	ENSP00000323982:p.Phe153Leu	HNSCC(53;0.14)					p.F153L	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	457	+	Esophageal squamous(21;0.00693)		153			Helical; Name=4; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.457T>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	8.864	0.947549	0.18356	.	.	ENSG00000181767	ENST00000313503	T	0.00039	8.85	3.58	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.647404	0.14525	N	0.314244	T	0.00073	0.0002	N	0.16656	0.425	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.17930	-1.0353	10	0.30854	T	0.27	.	1.0023	0.01479	0.154:0.2147:0.1575:0.4737	.	153	Q8N162	OR8H2_HUMAN	L	153	ENSP00000323982:F153L	ENSP00000323982:F153L	F	+	1	0	OR8H2	55629551	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.946000	0.03905	0.081000	0.16988	0.362000	0.22060	TTT		PASS	0.443	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		82	245	82	245	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56184866	56184866	+	Silent	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:56184866C>T	ENST00000312253.1	-	1	842	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281V(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ACATGGGGATCACCACTGTGT	0.388																																						uc010rji.1																			2	Substitution - coding silent(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(2)	2						c.(841-843)GTG>GTA		olfactory receptor, family 5, subfamily R,							154.0	149.0	150.0					11																	56184866		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56184866C>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.843G>A	11.37:g.56184866C>T							p.V281V	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	843	-	Esophageal squamous(21;0.00448)		281			Helical; Name=7; (Potential).			Silent	SNP	ENST00000312253.1	37	c.843G>A	CCDS31530.1																																																																																				PASS	0.388	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		22	213	22	213	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62287374	62287374	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:62287374T>C	ENST00000378024.4	-	5	14789	c.14515A>G	c.(14515-14517)Atg>Gtg	p.M4839V	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4839					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.M4839V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTCAGGCATCTTGAACTTG	0.463																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14515-14517)ATG>GTG		AHNAK nucleoprotein isoform 1							121.0	119.0	120.0					11																	62287374		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287374T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14515A>G	11.37:g.62287374T>C	ENSP00000367263:p.Met4839Val					AHNAK_uc001ntk.1_Intron	p.M4839V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	14815	-		Melanoma(852;0.155)	4839					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14515A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329683	0.41297	.	.	ENSG00000124942	ENST00000378024	T	0.01335	5.0	4.58	4.58	0.56647	.	0.054198	0.64402	D	0.000001	T	0.06554	0.0168	M	0.76328	2.33	0.39193	D	0.963009	P	0.38110	0.618	P	0.58577	0.841	T	0.49062	-0.8978	10	0.13108	T	0.6	-24.1745	13.6386	0.62237	0.0:0.0:0.0:1.0	.	4839	Q09666	AHNK_HUMAN	V	4839	ENSP00000367263:M4839V	ENSP00000367263:M4839V	M	-	1	0	AHNAK	62043950	0.995000	0.38212	1.000000	0.80357	0.919000	0.55068	1.341000	0.33907	1.718000	0.51419	0.391000	0.25812	ATG		PASS	0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		57	189	57	189	---	---	---	---
DHCR7	1717	broad.mit.edu	37	11	71152283	71152283	+	Missense_Mutation	SNP	C	C	T	rs542744675		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:71152283C>T	ENST00000355527.3	-	6	892	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	DHCR7_ENST00000407721.2_Missense_Mutation_p.A206T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	206					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.A206T(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGTCTCTGGCGCTGGTGGGG	0.562									Smith-Lemli-Opitz syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		20170	0.0		0.0	False		,,,				2504	0.001					uc001oqk.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(616-618)GCC>ACC		7-dehydrocholesterol reductase	NADH(DB00157)						99.0	84.0	89.0					11																	71152283		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152283C>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.616G>A	11.37:g.71152283C>T	ENSP00000347717:p.Ala206Thr					DHCR7_uc001oql.2_Missense_Mutation_p.A206T	p.A206T	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			6	866	-			206					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.616G>A	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978847	0.34942	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316	D;D;D	0.97941	-4.62;-4.62;-4.62	4.14	0.93	0.19454	.	0.311466	0.34906	N	0.003594	D	0.94863	0.8340	L	0.35854	1.095	0.21290	N	0.99974	D	0.59357	0.985	P	0.51615	0.675	D	0.89198	0.3555	10	0.21014	T	0.42	-29.5631	4.7114	0.12873	0.1723:0.6254:0.0:0.2023	.	206	Q9UBM7	DHCR7_HUMAN	T	206;206;218;174	ENSP00000384739:A206T;ENSP00000347717:A206T;ENSP00000435047:A174T	ENSP00000347717:A206T	A	-	1	0	DHCR7	70829931	0.031000	0.19500	0.009000	0.14445	0.704000	0.40688	0.262000	0.18460	0.351000	0.24027	-0.643000	0.03959	GCC		PASS	0.562	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		36	67	36	67	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124756583	124756583	+	Silent	SNP	C	C	T	rs371743207		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:124756583C>T	ENST00000306534.3	-	16	3056	c.2571G>A	c.(2569-2571)ctG>ctA	p.L857L	ROBO4_ENST00000533054.1_Silent_p.L712L|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	857					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L857L(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GAGGTGGGCACAGCAAGACTC	0.667																																						uc001qbg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2569-2571)CTG>CTA		roundabout homolog 4, magic roundabout				0,4402		0,0,2201	31.0	33.0	32.0		2571	3.5	0.8	11		32	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ROBO4	NM_019055.5		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		857/1008	124756583	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756583C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2571G>A	11.37:g.124756583C>T						ROBO4_uc010sas.1_Silent_p.L712L|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Silent_p.L415L	p.L857L	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	2711	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	857					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.2571G>A	CCDS8455.1																																																																																				PASS	0.667	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		10	24	10	24	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128680570	128680570	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr11:128680570C>T	ENST00000527786.2	+	9	1535	c.1046C>T	c.(1045-1047)aCc>aTc	p.T349I	FLI1_ENST00000281428.8_Missense_Mutation_p.T283I|FLI1_ENST00000525560.1_Missense_Mutation_p.T156I|FLI1_ENST00000344954.6_Missense_Mutation_p.T316I|FLI1_ENST00000534087.2_Missense_Mutation_p.T316I	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	349					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T349I(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AACATTATGACCAAAGTGCAC	0.517			T	EWSR1	Ewing sarcoma																																	uc010sbu.1				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	1	Substitution - Missense(1)		lung(1)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(1045-1047)ACC>ATC		Friend leukemia virus integration 1							54.0	61.0	59.0					11																	128680570		2188	4293	6481	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680570C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1046C>T	11.37:g.128680570C>T	ENSP00000433488:p.Thr349Ile					FLI1_uc010sbt.1_Missense_Mutation_p.T156I|FLI1_uc010sbv.1_Missense_Mutation_p.T316I|FLI1_uc009zci.2_Missense_Mutation_p.T283I	p.T349I	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1387	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	349			ETS.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.1046C>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816745	0.70912	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.23	5.23	0.72850	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.049876	0.85682	D	0.000000	T	0.45716	0.1356	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.992;0.997;0.998	T	0.36601	-0.9741	10	0.87932	D	0	.	18.9989	0.92824	0.0:1.0:0.0:0.0	.	349;156;283	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	I	156;316;349;316;283	ENSP00000437124:T156I;ENSP00000339627:T316I;ENSP00000399985:T349I;ENSP00000432950:T316I;ENSP00000281428:T283I	ENSP00000281428:T283I	T	+	2	0	FLI1	128185780	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.604000	0.82830	2.719000	0.93026	0.650000	0.86243	ACC		PASS	0.517	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		7	37	7	37	---	---	---	---
MRPS35	60488	broad.mit.edu	37	12	27863870	27863870	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr12:27863870G>T	ENST00000081029.3	+	1	165	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F	MRPS35_ENST00000538315.1_Missense_Mutation_p.V32F|RP11-1060J15.7_ENST00000538640.1_lincRNA|RP11-1060J15.4_ENST00000536317.1_RNA|RP11-1060J15.4_ENST00000542660.1_RNA	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.V32F(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GGCCACTCCGGTCCCGACACC	0.657																																						uc001rih.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)GTC>TTC		mitochondrial ribosomal protein S35 precursor							60.0	47.0	51.0					12																	27863870		2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27863870G>T	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.94G>T	12.37:g.27863870G>T	ENSP00000081029:p.Val32Phe					MRPS35_uc001rii.2_Missense_Mutation_p.V32F	p.V32F	NM_021821	NP_068593	P82673	RT35_HUMAN			1	142	+	Lung SC(9;0.0873)		32					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.94G>T	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473563	0.26423	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315;ENST00000542791	T;T;T	0.55760	0.91;0.88;0.5	4.57	-9.15	0.00698	.	3.235690	0.01155	N	0.006503	T	0.31451	0.0797	N	0.22421	0.69	0.09310	N	1	B;B	0.22080	0.044;0.064	B;B	0.24394	0.053;0.025	T	0.19614	-1.0300	10	0.56958	D	0.05	-25.8073	0.9588	0.01391	0.2314:0.2867:0.1219:0.36	.	32;32	P82673-2;P82673	.;RT35_HUMAN	F	32;32;32;31	ENSP00000081029:V32F;ENSP00000445390:V32F;ENSP00000437991:V31F	ENSP00000081029:V32F	V	+	1	0	MRPS35	27755137	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-2.712000	0.00393	-0.982000	0.02568	GTC		PASS	0.657	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		13	27	13	27	---	---	---	---
FGD4	121512	broad.mit.edu	37	12	32764098	32764098	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr12:32764098T>A	ENST00000427716.2	+	10	1643	c.1219T>A	c.(1219-1221)Tat>Aat	p.Y407N	FGD4_ENST00000525053.1_Missense_Mutation_p.Y519N|FGD4_ENST00000531134.1_Missense_Mutation_p.Y492N|FGD4_ENST00000381025.3_Missense_Mutation_p.Y159N|FGD4_ENST00000534526.2_Missense_Mutation_p.Y544N|FGD4_ENST00000266482.3_Missense_Mutation_p.Y159N|FGD4_ENST00000546442.1_Missense_Mutation_p.Y314N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	407					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.Y407N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CTTAGAGATTTATGAAATGTT	0.363																																						uc001rkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1219-1221)TAT>AAT		FYVE, RhoGEF and PH domain containing 4							92.0	97.0	95.0					12																	32764098		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32764098T>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1219T>A	12.37:g.32764098T>A	ENSP00000394487:p.Tyr407Asn					FGD4_uc001rlc.2_Missense_Mutation_p.Y492N|FGD4_uc001rky.2_Missense_Mutation_p.Y159N|FGD4_uc001rla.2_Missense_Mutation_p.Y63N|FGD4_uc010ske.1_Missense_Mutation_p.Y519N|FGD4_uc001rlb.1_RNA	p.Y407N	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			10	1696	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		407					Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1219T>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674013	0.67928	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.51	5.51	0.81932	Dbl homology (DH) domain (2);	0.000000	0.47093	D	0.000243	D	0.93006	0.7774	L	0.56769	1.78	0.80722	D	1	P;P;D;D	0.89917	0.63;0.63;1.0;0.995	P;P;D;P	0.73708	0.558;0.558;0.981;0.881	D	0.93670	0.6989	10	0.72032	D	0.01	-15.9228	15.6376	0.76966	0.0:0.0:0.0:1.0	.	519;492;407;159	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	N	544;492;407;159;314;519;159	ENSP00000449273:Y544N;ENSP00000431323:Y492N;ENSP00000394487:Y407N;ENSP00000266482:Y159N;ENSP00000446695:Y314N;ENSP00000433666:Y519N;ENSP00000370413:Y159N	ENSP00000266482:Y159N	Y	+	1	0	FGD4	32655365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.835000	0.86780	2.090000	0.63153	0.460000	0.39030	TAT		PASS	0.363	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		23	130	23	130	---	---	---	---
SDR9C7	121214	broad.mit.edu	37	12	57324196	57324196	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr12:57324196T>A	ENST00000293502.1	-	2	517	c.374A>T	c.(373-375)gAc>gTc	p.D125V		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	125					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)	p.D125V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CTTCACAAAGTCATCCTTGGT	0.557																																						uc010sqw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(373-375)GAC>GTC		short chain dehydrogenase/reductase family 9C,							106.0	94.0	98.0					12																	57324196		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57324196T>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.374A>T	12.37:g.57324196T>A	ENSP00000293502:p.Asp125Val						p.D125V	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			2	374	-			125					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.374A>T	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450877	0.84209	.	.	ENSG00000170426	ENST00000293502	D	0.88201	-2.35	5.3	5.3	0.74995	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.93012	0.7776	M	0.66560	2.04	0.80722	D	1	D	0.60575	0.988	D	0.66979	0.948	D	0.93424	0.6779	10	0.59425	D	0.04	.	14.2326	0.65903	0.0:0.0:0.0:1.0	.	125	Q8NEX9	DR9C7_HUMAN	V	125	ENSP00000293502:D125V	ENSP00000293502:D125V	D	-	2	0	SDR9C7	55610463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.007000	0.58848	0.533000	0.62120	GAC		PASS	0.557	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		32	56	32	56	---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72274315	72274315	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr12:72274315C>G	ENST00000550746.1	+	4	335	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V	TBC1D15_ENST00000319106.8_Missense_Mutation_p.L99V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L91V|TBC1D15_ENST00000393309.3_5'UTR	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	91					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.L91V(1)|p.L99V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCAGAACATCTGAACAGTTA	0.333																																						uc001swu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(337-339)CTG>GTG		TBC1 domain family, member 15 isoform 1							54.0	48.0	50.0					12																	72274315		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72274315C>G	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.271C>G	12.37:g.72274315C>G	ENSP00000448182:p.Leu91Val					TBC1D15_uc009zrv.2_Translation_Start_Site|TBC1D15_uc010stt.1_Missense_Mutation_p.L99V|TBC1D15_uc001swv.2_Missense_Mutation_p.L113V|TBC1D15_uc001sww.2_Translation_Start_Site	p.L113V	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			4	346	+			91					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.337C>G	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455696	0.26161	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.29142	1.58;1.58;1.58	5.92	4.05	0.47172	Domain of unknown function DUF3548 (1);	0.501265	0.19621	N	0.109917	T	0.15046	0.0363	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.001;0.003	T	0.05971	-1.0853	10	0.11485	T	0.65	-5.35	12.1544	0.54068	0.1266:0.6294:0.244:0.0	.	99;91;91	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	V	91;99;91	ENSP00000448182:L91V;ENSP00000318262:L99V;ENSP00000420678:L91V	ENSP00000318262:L99V	L	+	1	2	TBC1D15	70560582	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	1.570000	0.36439	0.786000	0.33708	0.650000	0.86243	CTG		PASS	0.333	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		10	54	10	54	---	---	---	---
PARP4	143	broad.mit.edu	37	13	25029274	25029274	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr13:25029274C>A	ENST00000381989.3	-	22	2744	c.2639G>T	c.(2638-2640)tGt>tTt	p.C880F	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	880	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.C880F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCAGTCAAGACAAATAATCAC	0.502																																						uc001upl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2638-2640)TGT>TTT		poly (ADP-ribose) polymerase family, member 4							202.0	176.0	185.0					13																	25029274		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25029274C>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2639G>T	13.37:g.25029274C>A	ENSP00000371419:p.Cys880Phe					PARP4_uc010tdc.1_Missense_Mutation_p.C880F	p.C880F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	22	2745	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	880			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2639G>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175564	0.38413	.	.	ENSG00000102699	ENST00000381989	T	0.07567	3.18	4.72	4.72	0.59763	von Willebrand factor, type A (3);	0.141869	0.48767	D	0.000175	T	0.24890	0.0604	M	0.70595	2.14	0.36446	D	0.865783	D	0.76494	0.999	D	0.87578	0.998	T	0.04579	-1.0941	10	0.48119	T	0.1	-17.4527	10.3499	0.43929	0.1958:0.8042:0.0:0.0	.	880	Q9UKK3	PARP4_HUMAN	F	880	ENSP00000371419:C880F	ENSP00000371419:C880F	C	-	2	0	PARP4	23927274	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	2.340000	0.43974	2.481000	0.83766	0.573000	0.79308	TGT		PASS	0.502	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		60	131	60	131	---	---	---	---
HMGB1	3146	broad.mit.edu	37	13	31036834	31036834	+	Silent	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr13:31036834G>T	ENST00000405805.1	-	4	1252	c.312C>A	c.(310-312)ctC>ctA	p.L104L	HMGB1_ENST00000399489.1_Silent_p.L104L|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399494.1_Silent_p.L104L|HMGB1_ENST00000339872.4_Silent_p.L104L|HMGB1_ENST00000341423.5_Silent_p.L104L|HMGB1_ENST00000326004.4_Silent_p.L104L			P09429	HMGB1_HUMAN	high mobility group box 1	104					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.L104L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CAGAGCAGAAGAGGAAGAAGG	0.373																																						uc001usw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(310-312)CTC>CTA		high-mobility group box 1							42.0	44.0	43.0					13																	31036834		2183	4288	6471	SO:0001819	synonymous_variant	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31036834G>T	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.312C>A	13.37:g.31036834G>T						HMGB1_uc001usz.2_Silent_p.L104L|HMGB1_uc001usv.2_Silent_p.L104L|HMGB1_uc001usx.2_Silent_p.L104L|HMGB1_uc001usy.2_Silent_p.L65L|HMGB1_uc001uta.1_Silent_p.L104L	p.L104L	NM_002128	NP_002119	P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	4	496	-		Lung SC(185;0.0257)	104			HMG box 2.		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Silent	SNP	ENST00000405805.1	37	c.312C>A	CCDS9335.1																																																																																				PASS	0.373	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		36	51	36	51	---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49710725	49710725	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr13:49710725A>G	ENST00000492622.2	+	6	1053	c.748A>G	c.(748-750)Aca>Gca	p.T250A	FNDC3A_ENST00000398316.3_Missense_Mutation_p.T194A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.T250A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	250					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.T250A(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACAAGTTGATACAGAAATTGA	0.353																																						uc001vcm.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(748-750)ACA>GCA		fibronectin type III domain containing 3A							129.0	124.0	126.0					13																	49710725		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49710725A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.748A>G	13.37:g.49710725A>G	ENSP00000417257:p.Thr250Ala					FNDC3A_uc001vcl.1_Missense_Mutation_p.T250A|FNDC3A_uc001vcn.2_Missense_Mutation_p.T250A|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.T194A|FNDC3A_uc001vcq.2_Missense_Mutation_p.T194A	p.T250A	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	6	1053	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	250					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.748A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	7.252	0.603527	0.14002	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.34667	1.36;1.36;1.35	5.71	-0.761	0.11038	Fibronectin, type III (1);	0.775845	0.11936	N	0.515236	T	0.14098	0.0341	N	0.08118	0	0.27469	N	0.952917	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.11329	0.006;0.002;0.003	T	0.34700	-0.9818	10	0.09084	T	0.74	-2.1892	5.7728	0.18263	0.5695:0.1377:0.2928:0.0	.	194;250;250	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	A	250;186;250;194	ENSP00000417257:T250A;ENSP00000441831:T250A;ENSP00000381362:T194A	ENSP00000338579:T186A	T	+	1	0	FNDC3A	48608726	0.043000	0.20138	0.953000	0.39169	0.630000	0.37929	-0.163000	0.09997	-0.106000	0.12110	0.460000	0.39030	ACA		PASS	0.353	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		29	68	29	68	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30066893	30066893	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr14:30066893G>A	ENST00000331968.5	-	16	2467	c.2238C>T	c.(2236-2238)acC>acT	p.T746T	PRKD1_ENST00000415220.2_Silent_p.T754T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.T746T(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTAAGCGGGGGTACCCACCA	0.488																																						uc001wqh.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2236-2238)ACC>ACT		protein kinase D1							90.0	89.0	89.0					14																	30066893		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066893G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2238C>T	14.37:g.30066893G>A							p.T746T	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2419	-	Hepatocellular(127;0.0604)		746			Protein kinase.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.2238C>T	CCDS9637.1																																																																																				PASS	0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		68	102	68	102	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64522939	64522939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr14:64522939C>G	ENST00000344113.4	+	49	10234	c.10022C>G	c.(10021-10023)tCa>tGa	p.S3341*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.S3341*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S3374*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3341					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S3341*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTAAGAACTCAGCAATGAAG	0.403																																						uc001xgm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(10021-10023)TCA>TGA		spectrin repeat containing, nuclear envelope 2							55.0	50.0	52.0					14																	64522939		1857	4089	5946	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64522939C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10022C>G	14.37:g.64522939C>G	ENSP00000341781:p.Ser3341*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.S3341*|SYNE2_uc010apw.1_Nonsense_Mutation_p.S47*	p.S3341*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	49	10252	+			3341			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.10022C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	52	19.254165	0.99917	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.79	4.91	0.64330	.	0.273101	0.26467	N	0.024219	.	.	.	.	.	.	0.25206	N	0.990018	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.6828	0.40080	0.0:0.8015:0.0:0.1985	.	.	.	.	X	3341;3341;3374;3374	.	ENSP00000261678:S3374X	S	+	2	0	SYNE2	63592692	0.002000	0.14202	0.527000	0.27925	0.791000	0.44710	1.368000	0.34216	1.467000	0.48044	0.491000	0.48974	TCA		PASS	0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		26	70	26	70	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64608107	64608107	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr14:64608107A>G	ENST00000344113.4	+	81	15237	c.15025A>G	c.(15025-15027)Atc>Gtc	p.I5009V	SYNE2_ENST00000555002.1_Missense_Mutation_p.I1643V|SYNE2_ENST00000357395.3_Missense_Mutation_p.I1394V|SYNE2_ENST00000358025.3_Missense_Mutation_p.I5009V|SYNE2_ENST00000394768.2_Missense_Mutation_p.I1394V|SYNE2_ENST00000554584.1_Missense_Mutation_p.I4926V|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5009					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.I5009V(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACTGCCGTTATCAGTATCGG	0.348																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(15025-15027)ATC>GTC		spectrin repeat containing, nuclear envelope 2							85.0	85.0	85.0					14																	64608107		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64608107A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15025A>G	14.37:g.64608107A>G	ENSP00000341781:p.Ile5009Val					SYNE2_uc001xgl.2_Missense_Mutation_p.I5009V|SYNE2_uc010apy.2_Missense_Mutation_p.I1394V|SYNE2_uc001xgn.2_5'UTR|SYNE2_uc001xgo.2_RNA	p.I5009V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	81	15255	+			5009			Spectrin 1.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.15025A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	4.847	0.157489	0.09236	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.59	-11.2	0.00127	.	0.974369	0.08411	N	0.949912	T	0.16171	0.0389	N	0.12182	0.205	0.29406	N	0.861595	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.29488	-1.0010	10	0.18710	T	0.47	.	14.4559	0.67416	0.1336:0.4759:0.3905:0.0	.	1394;5009;5009	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	V	5009;1394;5009;4926;4932;1643;1394	ENSP00000350719:I5009V;ENSP00000349969:I1394V;ENSP00000341781:I5009V;ENSP00000452570:I4926V;ENSP00000450831:I1643V;ENSP00000378249:I1394V	ENSP00000261678:I4932V	I	+	1	0	SYNE2	63677860	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-1.822000	0.01711	-2.660000	0.00419	0.524000	0.50904	ATC		PASS	0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		69	143	69	143	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64625421	64625421	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr14:64625421A>G	ENST00000344113.4	+	86	16083	c.15871A>G	c.(15871-15873)Atg>Gtg	p.M5291V	SYNE2_ENST00000555002.1_Missense_Mutation_p.M1925V|SYNE2_ENST00000357395.3_Missense_Mutation_p.M1676V|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5291V|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1676V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5208V|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5291					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.M5291V(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGTGAATATGATGACAAT	0.418																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(15871-15873)ATG>GTG		spectrin repeat containing, nuclear envelope 2							136.0	118.0	124.0					14																	64625421		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64625421A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15871A>G	14.37:g.64625421A>G	ENSP00000341781:p.Met5291Val					SYNE2_uc001xgl.2_Missense_Mutation_p.M5291V|SYNE2_uc010apy.2_Missense_Mutation_p.M1676V|SYNE2_uc001xgn.2_Missense_Mutation_p.M253V|SYNE2_uc001xgo.2_RNA|SYNE2_uc001xgp.2_Missense_Mutation_p.M20V	p.M5291V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	86	16101	+			5291			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.15871A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	8.577	0.881470	0.17467	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.77	-2.8	0.05823	.	0.745837	0.12388	N	0.473315	T	0.22244	0.0536	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.09377	0.002;0.001;0.0;0.002;0.004	T	0.21008	-1.0258	10	0.28530	T	0.3	.	8.2283	0.31582	0.231:0.308:0.461:0.0	.	1676;5214;5208;5291;5291	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	V	5291;1676;5291;5208;5214;1925;1676	ENSP00000350719:M5291V;ENSP00000349969:M1676V;ENSP00000341781:M5291V;ENSP00000452570:M5208V;ENSP00000450831:M1925V;ENSP00000378249:M1676V	ENSP00000261678:M5214V	M	+	1	0	SYNE2	63695174	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-0.495000	0.06443	-0.392000	0.07751	0.528000	0.53228	ATG		PASS	0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		25	94	25	94	---	---	---	---
IFI27L2	83982	broad.mit.edu	37	14	94594942	94594942	+	Silent	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr14:94594942G>C	ENST00000238609.3	-	3	207	c.108C>G	c.(106-108)tcC>tcG	p.S36S	IFI27L2_ENST00000556727.1_Silent_p.S11S	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	36						integral component of membrane (GO:0016021)		p.S36S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						CTGCTATGGAGGACGCGGCGA	0.637																																						uc001ycq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)TCC>TCG		TLH29 protein precursor							71.0	55.0	60.0					14																	94594942		2203	4300	6503	SO:0001819	synonymous_variant	83982					integral to membrane		g.chr14:94594942G>C	AF208232	CCDS9920.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000119632			19753	protein-coding gene	gene with protein product		611319	"""family with sequence similarity 14, member A"""	FAM14A			Standard	NM_032036		Approved	TLH29	uc001ycq.3	Q9H2X8		ENST00000238609.3:c.108C>G	14.37:g.94594942G>C							p.S36S	NM_032036	NP_114425	Q9H2X8	I27L2_HUMAN			3	164	-			36					Q8TBD7|Q9NYL0	Silent	SNP	ENST00000238609.3	37	c.108C>G	CCDS9920.1																																																																																				PASS	0.637	IFI27L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412935.1	NM_032036		11	53	11	53	---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94770791	94770791	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr14:94770791G>T	ENST00000341584.3	-	5	1328	c.1182C>A	c.(1180-1182)agC>agA	p.S394R		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	394					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.S394R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGAAAAGGCTGCTCCAGGTGA	0.537																																						uc001ycv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1180-1182)AGC>AGA		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						159.0	134.0	142.0					14																	94770791		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94770791G>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1182C>A	14.37:g.94770791G>T	ENSP00000342850:p.Ser394Arg					SERPINA6_uc010auv.2_RNA	p.S394R	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1286	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	394					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.1182C>A	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104020	0.56291	.	.	ENSG00000170099	ENST00000341584	D	0.85171	-1.95	4.83	2.99	0.34606	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.91061	0.7187	M	0.87456	2.885	0.46678	D	0.999151	D	0.89917	1.0	D	0.97110	1.0	D	0.90048	0.4147	10	0.87932	D	0	.	5.2357	0.15445	0.3174:0.0:0.6826:0.0	.	394	P08185	CBG_HUMAN	R	394	ENSP00000342850:S394R	ENSP00000342850:S394R	S	-	3	2	SERPINA6	93840544	0.939000	0.31865	0.995000	0.50966	0.552000	0.35366	0.667000	0.25112	1.397000	0.46682	0.655000	0.94253	AGC		PASS	0.537	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		25	117	25	117	---	---	---	---
HHIPL1	84439	broad.mit.edu	37	14	100129256	100129256	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr14:100129256C>A	ENST00000330710.5	+	6	1644	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	HHIPL1_ENST00000357223.2_Missense_Mutation_p.Q516K	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	516					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.Q516K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGGCCAGTGGCAGTACAGTGA	0.592																																						uc010avs.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1546-1548)CAG>AAG		HHIP-like protein 1 isoform a							99.0	85.0	90.0					14																	100129256		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129256C>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1546C>A	14.37:g.100129256C>A	ENSP00000330601:p.Gln516Lys					HHIPL1_uc001ygl.1_Missense_Mutation_p.Q516K	p.Q516K	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			6	1611	+		Melanoma(154;0.128)	516					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1546C>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	C	0.268	-0.994581	0.02145	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.10477	2.87;2.87	4.74	2.82	0.32997	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.727263	0.13326	N	0.396264	T	0.03348	0.0097	N	0.01874	-0.695	0.23282	N	0.997986	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.43081	-0.9413	10	0.02654	T	1	.	9.2594	0.37603	0.1481:0.7743:0.0:0.0776	.	516;516	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	K	516	ENSP00000330601:Q516K;ENSP00000349757:Q516K	ENSP00000330601:Q516K	Q	+	1	0	HHIPL1	99199009	0.276000	0.24211	0.519000	0.27824	0.621000	0.37620	0.794000	0.26958	0.374000	0.24650	0.561000	0.74099	CAG		PASS	0.592	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		38	116	38	116	---	---	---	---
CHP1	11261	broad.mit.edu	37	15	41523623	41523623	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr15:41523623G>C	ENST00000334660.5	+	1	283	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	EXD1_ENST00000314992.5_5'Flank|EXD1_ENST00000559743.1_5'Flank|CHP1_ENST00000560397.1_Missense_Mutation_p.E15Q|EXD1_ENST00000458580.2_5'Flank|CHP1_ENST00000558351.1_Intron	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	15					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.E15Q(1)									CGAAGAGCTCGAGGAGATCAA	0.677																																						uc001znl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(43-45)GAG>CAG		calcium binding protein P22							35.0	25.0	28.0					15																	41523623		2201	4299	6500	SO:0001583	missense	11261				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	g.chr15:41523623G>C		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.43G>C	15.37:g.41523623G>C	ENSP00000335632:p.Glu15Gln					EXD1_uc001znk.2_5'Flank|EXD1_uc010ucv.1_5'Flank	p.E15Q	NM_007236	NP_009167	Q99653	CHP1_HUMAN		GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169)	1	187	+		all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143)	15					B2R6H9|Q6FHZ9	Missense_Mutation	SNP	ENST00000334660.5	37	c.43G>C	CCDS10073.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015292	0.54468	.	.	ENSG00000187446	ENST00000334660;ENST00000392151	T;T	0.67865	-0.29;-0.29	5.79	3.9	0.45041	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	N	0.25144	0.715	0.58432	D	0.999999	B	0.21606	0.058	B	0.24974	0.057	T	0.42464	-0.9450	10	0.25106	T	0.35	-17.3583	10.4489	0.44509	0.1569:0.0:0.8431:0.0	.	15	Q99653	CHP1_HUMAN	Q	15	ENSP00000335632:E15Q;ENSP00000440490:E15Q	ENSP00000335632:E15Q	E	+	1	0	AC012652.1	39310915	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.970000	0.63742	1.467000	0.48044	0.555000	0.69702	GAG		PASS	0.677	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		2	16	2	16	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57730751	57730751	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr15:57730751A>G	ENST00000281282.5	+	2	632	c.554A>G	c.(553-555)aAt>aGt	p.N185S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	185	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.N185S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGCATCAACAATAAGAAGCCT	0.443																																						uc002aeg.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(4)|central_nervous_system(1)	11						c.(553-555)AAT>AGT		cingulin-like 1							106.0	108.0	107.0					15																	57730751		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730751A>G	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.554A>G	15.37:g.57730751A>G	ENSP00000281282:p.Asn185Ser					CGNL1_uc010bfw.2_Missense_Mutation_p.N185S	p.N185S	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	630	+			185			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.554A>G	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	0.957	-0.704513	0.03255	.	.	ENSG00000128849	ENST00000281282	T	0.06068	3.35	4.98	-1.41	0.08941	.	1.332670	0.05011	N	0.470898	T	0.05135	0.0137	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44467	-0.9326	10	0.26408	T	0.33	-2.3412	5.5802	0.17245	0.5393:0.1384:0.3223:0.0	.	185	Q0VF96	CGNL1_HUMAN	S	185	ENSP00000281282:N185S	ENSP00000281282:N185S	N	+	2	0	CGNL1	55518043	0.001000	0.12720	0.001000	0.08648	0.266000	0.26442	0.376000	0.20535	-0.431000	0.07307	0.528000	0.53228	AAT		PASS	0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		61	105	61	105	---	---	---	---
C15orf27	123591	broad.mit.edu	37	15	76496130	76496130	+	Missense_Mutation	SNP	T	T	C	rs201833387		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr15:76496130T>C	ENST00000388942.3	+	11	1346	c.1070T>C	c.(1069-1071)aTa>aCa	p.I357T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	357					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)	p.I357T(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACGGCCGCAATAGACATTCAC	0.597													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19918	0.0		0.0	False		,,,				2504	0.0					uc002bbq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1069-1071)ATA>ACA		hypothetical protein LOC123591							217.0	189.0	198.0					15																	76496130		2197	4294	6491	SO:0001583	missense	123591					integral to membrane		g.chr15:76496130T>C	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1070T>C	15.37:g.76496130T>C	ENSP00000373594:p.Ile357Thr					C15orf27_uc010bkp.2_Missense_Mutation_p.I173T|C15orf27_uc002bbr.2_Missense_Mutation_p.I173T|C15orf27_uc002bbs.2_Missense_Mutation_p.I35T	p.I357T	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			11	1225	+			357					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.1070T>C	CCDS10289.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	17.10	3.302592	0.60195	.	.	ENSG00000169758	ENST00000388942	T	0.53640	0.61	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.71580	-0.4550	10	0.87932	D	0	-12.0289	12.4565	0.55708	0.0:0.0:0.0:1.0	.	321;357	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	T	357	ENSP00000373594:I357T	ENSP00000373594:I357T	I	+	2	0	C15orf27	74283185	1.000000	0.71417	0.974000	0.42286	0.382000	0.30200	7.335000	0.79234	1.867000	0.54127	0.374000	0.22700	ATA		PASS	0.597	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		56	107	56	107	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86262404	86262404	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr15:86262404G>T	ENST00000394518.2	+	23	6194	c.6099G>T	c.(6097-6099)caG>caT	p.Q2033H	AKAP13_ENST00000394510.2_Missense_Mutation_p.Q278H|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q2037H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2033	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.Q2037H(1)|p.Q113H(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTGAGCAGCAGATGGTAGAAA	0.483																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(6097-6099)CAG>CAT		A-kinase anchor protein 13 isoform 2							139.0	117.0	125.0					15																	86262404		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86262404G>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6099G>T	15.37:g.86262404G>T	ENSP00000378026:p.Gln2033His					AKAP13_uc002blu.1_Missense_Mutation_p.Q2037H|AKAP13_uc010bnf.1_Missense_Mutation_p.Q654H|AKAP13_uc002blw.1_Missense_Mutation_p.Q498H|AKAP13_uc002blx.1_Missense_Mutation_p.Q278H	p.Q2033H	NM_007200	NP_009131	Q12802	AKP13_HUMAN			23	6269	+			2033			Interaction with ESR1.|DH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6099G>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.440928	0.63067	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.63913	-0.07;-0.07;-0.07	5.05	3.17	0.36434	Dbl homology (DH) domain (5);	.	.	.	.	T	0.69015	0.3064	L	0.51422	1.61	0.31500	N	0.664851	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.73380	0.98;0.971;0.967	T	0.68981	-0.5266	9	0.72032	D	0.01	.	5.3828	0.16201	0.3365:0.0:0.6635:0.0	.	2013;2033;2037	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	H	113;2037;2033;2036;2012;278	ENSP00000354718:Q2037H;ENSP00000378026:Q2033H;ENSP00000378018:Q278H	ENSP00000354718:Q2037H	Q	+	3	2	AKAP13	84063408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.822000	0.27352	1.489000	0.48450	0.655000	0.94253	CAG		PASS	0.483	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		23	45	23	45	---	---	---	---
NME3	4832	broad.mit.edu	37	16	1820909	1820909	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr16:1820909C>T	ENST00000219302.3	-	4	560	c.365G>A	c.(364-366)cGc>cAc	p.R122H	NME3_ENST00000563498.1_Missense_Mutation_p.R38H|EME2_ENST00000307394.7_5'Flank|EME2_ENST00000568449.1_5'Flank	NM_002513.2	NP_002504.2	Q13232	NDK3_HUMAN	NME/NM23 nucleoside diphosphate kinase 3	122					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.R122H(1)		lung(1)	1						GAAATCCCCGCGGATGGTGCC	0.726																																						uc002cmm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)CGC>CAC		nucleoside diphosphate kinase 3							18.0	24.0	22.0					16																	1820909		2154	4235	6389	SO:0001583	missense	4832				apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr16:1820909C>T	U29656	CCDS10443.1	16q13.3	2013-04-29	2012-05-18		ENSG00000103024	ENSG00000103024			7851	protein-coding gene	gene with protein product		601817	"""non-metastatic cells 3, protein expressed in"""			9067290, 19852809	Standard	NM_002513		Approved	DR-nm23, NM23-H3, NDPKC	uc002cmm.3	Q13232	OTTHUMG00000128635	ENST00000219302.3:c.365G>A	16.37:g.1820909C>T	ENSP00000219302:p.Arg122His					NME3_uc010brv.2_RNA|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	p.R122H	NM_002513	NP_002504	Q13232	NDK3_HUMAN			4	540	-			122				ATP (By similarity).	Q9BWH4	Missense_Mutation	SNP	ENST00000219302.3	37	c.365G>A	CCDS10443.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164983	0.38217	.	.	ENSG00000103024	ENST00000219302	T	0.73681	-0.77	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.93211	0.6600	10	0.72032	D	0.01	2.2473	12.2989	0.54864	0.0:0.8287:0.1713:0.0	.	122	Q13232	NDK3_HUMAN	H	122	ENSP00000219302:R122H	ENSP00000219302:R122H	R	-	2	0	NME3	1760910	1.000000	0.71417	0.808000	0.32385	0.067000	0.16453	4.410000	0.59774	2.177000	0.69029	0.561000	0.74099	CGC		PASS	0.726	NME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250505.2	NM_002513		15	41	15	41	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18846334	18846334	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr16:18846334A>G	ENST00000446231.2	-	49	8622	c.8210T>C	c.(8209-8211)gTt>gCt	p.V2737A	SMG1_ENST00000389467.3_Missense_Mutation_p.V2737A			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2737					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V2737A(1)|p.V2733A(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCTTCACAAACTGGCACAGT	0.413																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(8209-8211)GTT>GCT		PI-3-kinase-related kinase SMG-1							232.0	224.0	226.0					16																	18846334		1946	4157	6103	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18846334A>G	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8210T>C	16.37:g.18846334A>G	ENSP00000402515:p.Val2737Ala					SMG1_uc010bwb.2_Missense_Mutation_p.V2597A|SMG1_uc010bwa.2_Missense_Mutation_p.V1468A	p.V2737A	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			49	8573	-			2737					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.8210T>C	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	A	9.553	1.116409	0.20795	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01133	5.29;5.29	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.64402	D	0.000010	T	0.00998	0.0033	N	0.08118	0	0.35693	D	0.814992	B	0.17852	0.024	B	0.10450	0.005	T	0.64394	-0.6418	10	0.21540	T	0.41	.	16.3892	0.83528	1.0:0.0:0.0:0.0	.	2737	Q96Q15	SMG1_HUMAN	A	2737	ENSP00000402515:V2737A;ENSP00000374118:V2737A	ENSP00000374118:V2737A	V	-	2	0	SMG1	18753835	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.460000	0.60108	2.330000	0.79161	0.477000	0.44152	GTT		PASS	0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		66	309	66	309	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18870957	18870957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr16:18870957G>A	ENST00000446231.2	-	27	4286	c.3874C>T	c.(3874-3876)Caa>Taa	p.Q1292*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.Q1292*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1292	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.		Q -> P. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q1288*(1)|p.Q1292*(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTAACAATTGAACTTCAATG	0.373																																						uc002dfm.2																			2	Substitution - Nonsense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(3874-3876)CAA>TAA		PI-3-kinase-related kinase SMG-1							56.0	51.0	52.0					16																	18870957		1823	4079	5902	SO:0001587	stop_gained	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18870957G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3874C>T	16.37:g.18870957G>A	ENSP00000402515:p.Gln1292*					SMG1_uc010bwb.2_Nonsense_Mutation_p.Q1152*|SMG1_uc010bwa.2_Nonsense_Mutation_p.Q23*	p.Q1292*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			27	4237	-			1292		Q -> P.	FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	ENST00000446231.2	37	c.3874C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	.	44	10.979728	0.99498	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	4.47	4.47	0.54385	.	0.000000	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	17.151	0.86778	0.0:0.0:1.0:0.0	.	.	.	.	X	1292	.	ENSP00000374118:Q1292X	Q	-	1	0	SMG1	18778458	1.000000	0.71417	0.985000	0.45067	0.505000	0.33919	9.064000	0.93933	2.042000	0.60477	0.305000	0.20034	CAA		PASS	0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		23	49	23	49	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19027840	19027840	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr16:19027840C>G	ENST00000304381.5	+	3	510	c.380C>G	c.(379-381)tCt>tGt	p.S127C	TMC7_ENST00000569532.1_Missense_Mutation_p.S127C|TMC7_ENST00000421369.3_Missense_Mutation_p.S17C	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	127					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.S127C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGCAGCAAGTCTTGGAAGAGG	0.507																																						uc002dfq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(379-381)TCT>TGT		transmembrane channel-like 7 isoform a							134.0	107.0	116.0					16																	19027840		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19027840C>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.380C>G	16.37:g.19027840C>G	ENSP00000304710:p.Ser127Cys					TMC7_uc010vao.1_Missense_Mutation_p.S127C|TMC7_uc002dfp.2_Missense_Mutation_p.S127C|TMC7_uc010vap.1_Missense_Mutation_p.S17C	p.S127C	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			3	510	+			127			Extracellular (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.380C>G	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669305	0.67814	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.73152	0.65;-0.72	5.45	5.45	0.79879	.	0.139528	0.51477	D	0.000099	T	0.81702	0.4878	L	0.58101	1.795	0.45439	D	0.998419	D;D;D	0.89917	1.0;0.998;0.998	D;D;P	0.85130	0.997;0.912;0.865	T	0.82133	-0.0608	10	0.54805	T	0.06	.	16.1915	0.81992	0.0:1.0:0.0:0.0	.	127;127;127	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	C	127;17	ENSP00000304710:S127C;ENSP00000397081:S17C	ENSP00000304710:S127C	S	+	2	0	TMC7	18935341	0.975000	0.34042	1.000000	0.80357	0.986000	0.74619	1.996000	0.40776	2.562000	0.86427	0.448000	0.29417	TCT		PASS	0.507	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		27	53	27	53	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20996734	20996734	+	Missense_Mutation	SNP	C	C	T	rs146558827		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr16:20996734C>T	ENST00000261383.3	-	48	7329	c.7330G>A	c.(7330-7332)Gcc>Acc	p.A2444T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2444	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A2444T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACAGTTTGGCGGCACTTTGC	0.527																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7330-7332)GCC>ACC		dynein, axonemal, heavy chain 3		T	THR/ALA	0,4402		0,0,2201	47.0	39.0	41.0		7330	4.3	1.0	16	dbSNP_134	41	1,8599	818.8+/-406.8	0,1,4299	no	missense	DNAH3	NM_017539.1	58	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	2444/4117	20996734	1,13001	2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996734C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7330G>A	16.37:g.20996734C>T	ENSP00000261383:p.Ala2444Thr					DNAH3_uc010vbd.1_5'Flank	p.A2444T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7330	-			2444			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7330G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	7.012	0.557060	0.13436	0.0	1.16E-4	ENSG00000158486	ENST00000261383	T	0.56275	0.47	5.52	4.33	0.51752	Dynein heavy chain, P-loop containing D4 domain (1);	0.305967	0.29159	N	0.012971	T	0.14743	0.0356	N	0.00347	-1.61	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	10	0.02654	T	1	.	8.7193	0.34430	0.123:0.0688:0.0:0.8082	.	2444	Q8TD57	DYH3_HUMAN	T	2444	ENSP00000261383:A2444T	ENSP00000261383:A2444T	A	-	1	0	DNAH3	20904235	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.839000	0.48207	0.936000	0.37367	-0.254000	0.11334	GCC		PASS	0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		15	26	15	26	---	---	---	---
ALDOA	226	broad.mit.edu	37	16	30080950	30080950	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr16:30080950C>T	ENST00000566897.1	+	10	1907	c.755C>T	c.(754-756)gCg>gTg	p.A252V	ALDOA_ENST00000569798.1_Missense_Mutation_p.A252V|ALDOA_ENST00000569545.1_Missense_Mutation_p.A252V|ALDOA_ENST00000395248.1_Missense_Mutation_p.A306V|ALDOA_ENST00000564595.2_Missense_Mutation_p.A306V|ALDOA_ENST00000338110.5_Missense_Mutation_p.A252V|ALDOA_ENST00000395240.3_Missense_Mutation_p.A256V|ALDOA_ENST00000412304.2_Missense_Mutation_p.A252V|ALDOA_ENST00000563060.2_Missense_Mutation_p.A252V|ALDOA_ENST00000564546.1_Missense_Mutation_p.A252V			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	252					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)	p.A252V(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ATTGCCATGGCGACCGTCACA	0.577											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dvw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(754-756)GCG>GTG		fructose-bisphosphate aldolase A							74.0	66.0	69.0					16																	30080950		2197	4300	6497	SO:0001583	missense	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30080950C>T	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.755C>T	16.37:g.30080950C>T	ENSP00000455724:p.Ala252Val		OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.A252V|ALDOA_uc002dvy.2_Missense_Mutation_p.A252V|ALDOA_uc002dvz.2_Missense_Mutation_p.A252V|ALDOA_uc002dwa.3_Missense_Mutation_p.A252V|ALDOA_uc002dwb.1_Missense_Mutation_p.A252V|ALDOA_uc002dwc.2_Missense_Mutation_p.A252V|ALDOA_uc010veg.1_Missense_Mutation_p.A306V|ALDOA_uc002dwd.2_Missense_Mutation_p.A256V	p.A252V	NM_184043	NP_908932	P04075	ALDOA_HUMAN			10	1883	+			252					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	c.755C>T	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821417	0.96989	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.86627	-2.15;-2.15;-2.15	5.9	5.9	0.94986	Aldolase-type TIM barrel (1);	0.048205	0.85682	D	0.000000	D	0.93223	0.7841	M	0.87456	2.885	0.80722	D	1	P;D;D	0.76494	0.58;0.999;0.987	B;P;B	0.56612	0.093;0.802;0.338	D	0.93286	0.6664	10	0.54805	T	0.06	.	19.0482	0.93030	0.0:1.0:0.0:0.0	.	111;134;252	A4UCT0;A4UCS9;P04075	.;.;ALDOA_HUMAN	V	306;252;252;252	ENSP00000378669:A306V;ENSP00000336927:A252V;ENSP00000400452:A252V	ENSP00000336927:A252V	A	+	2	0	ALDOA	29988451	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.693000	0.84214	2.808000	0.96608	0.650000	0.86243	GCG		PASS	0.577	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		16	62	16	62	---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46943685	46943685	+	Silent	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr16:46943685C>T	ENST00000340124.4	+	6	778	c.666C>T	c.(664-666)gtC>gtT	p.V222V	GPT2_ENST00000440783.2_Silent_p.V122V	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	222					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.V222V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	ATTCAGCTGTCATCTCTGAGC	0.582																																						uc002eel.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(664-666)GTC>GTT		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						88.0	83.0	85.0					16																	46943685		2203	4300	6503	SO:0001819	synonymous_variant	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46943685C>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.666C>T	16.37:g.46943685C>T						GPT2_uc002eem.2_Silent_p.V122V	p.V222V	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			6	760	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	222					Q8N9E2	Silent	SNP	ENST00000340124.4	37	c.666C>T	CCDS10725.1																																																																																				PASS	0.582	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			35	118	35	118	---	---	---	---
GFOD2	81577	broad.mit.edu	37	16	67709234	67709234	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr16:67709234C>T	ENST00000268797.7	-	3	1327	c.982G>A	c.(982-984)Gac>Aac	p.D328N	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	328					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.D328N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GGGGTGCGGTCCCAGGTGCGG	0.667																																						uc002eub.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(982-984)GAC>AAC		glucose-fructose oxidoreductase domain							79.0	73.0	75.0					16																	67709234		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709234C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.982G>A	16.37:g.67709234C>T	ENSP00000268797:p.Asp328Asn					GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.D223N	p.D328N	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1277	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	328					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.982G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956519	0.53293	.	.	ENSG00000141098	ENST00000268797	T	0.43294	0.95	5.28	5.28	0.74379	.	0.098891	0.64402	D	0.000002	T	0.36082	0.0954	L	0.36672	1.1	0.80722	D	1	B	0.20671	0.047	B	0.22601	0.04	T	0.12192	-1.0557	10	0.16420	T	0.52	-40.5887	18.8749	0.92331	0.0:1.0:0.0:0.0	.	328	Q3B7J2	GFOD2_HUMAN	N	328	ENSP00000268797:D328N	ENSP00000268797:D328N	D	-	1	0	GFOD2	66266735	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.978000	0.70501	2.625000	0.88918	0.557000	0.71058	GAC		PASS	0.667	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		43	100	43	100	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	48	20	48	---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26099414	26099414	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr17:26099414G>T	ENST00000313735.6	-	14	1857	c.1624C>A	c.(1624-1626)Ctc>Atc	p.L542I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	542	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.L542I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GTCGCAAAGAGGATGGTGACT	0.582																																						uc002gzu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1624-1626)CTC>ATC		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						91.0	76.0	81.0					17																	26099414		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26099414G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1624C>A	17.37:g.26099414G>T	ENSP00000327251:p.Leu542Ile					NOS2_uc010crh.1_Missense_Mutation_p.L542I|NOS2_uc010wab.1_Missense_Mutation_p.L542I	p.L542I	NM_000625	NP_000616	P35228	NOS2_HUMAN			14	1888	-			542			Flavodoxin-like.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1624C>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077564	0.76528	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.74842	-0.88	5.97	5.97	0.96955	Flavodoxin/nitric oxide synthase (2);	0.076826	0.52532	D	0.000071	T	0.78648	0.4316	L	0.51853	1.615	0.45762	D	0.998653	D;P	0.52996	0.957;0.927	P;P	0.54026	0.74;0.71	T	0.79203	-0.1900	10	0.59425	D	0.04	.	14.858	0.70355	0.0:0.0:0.8477:0.1523	.	542;542	F8WEM3;P35228	.;NOS2_HUMAN	I	542;503;542	ENSP00000327251:L542I	ENSP00000305638:L542I	L	-	1	0	NOS2	23123541	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.830000	0.55768	2.836000	0.97738	0.655000	0.94253	CTC		PASS	0.582	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		23	57	23	57	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32963126	32963126	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr17:32963126G>A	ENST00000321639.5	+	9	2136	c.1808G>A	c.(1807-1809)aGc>aAc	p.S603N		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	603						integral component of membrane (GO:0016021)		p.S603N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGGTGGCCAGCCTGGCCCTC	0.647																																						uc002hif.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1807-1809)AGC>AAC		transmembrane protein 132E precursor							60.0	43.0	49.0					17																	32963126		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32963126G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1808G>A	17.37:g.32963126G>A	ENSP00000316532:p.Ser603Asn						p.S603N	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	9	2136	+			603			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1808G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221399	0.79464	.	.	ENSG00000181291	ENST00000321639	T	0.47177	0.85	5.56	5.56	0.83823	.	0.047453	0.85682	D	0.000000	T	0.55033	0.1895	L	0.55481	1.735	0.50171	D	0.999859	P	0.51933	0.949	P	0.49085	0.6	T	0.57051	-0.7877	10	0.56958	D	0.05	-26.6154	18.51	0.90913	0.0:0.0:1.0:0.0	.	603	Q6IEE7	T132E_HUMAN	N	603	ENSP00000316532:S603N	ENSP00000316532:S603N	S	+	2	0	TMEM132E	29987239	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.754000	0.74909	2.610000	0.88304	0.551000	0.68910	AGC		PASS	0.647	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		9	23	9	23	---	---	---	---
NXPH3	11248	broad.mit.edu	37	17	47656181	47656181	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr17:47656181C>T	ENST00000328741.5	+	2	640	c.278C>T	c.(277-279)tCa>tTa	p.S93L	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Missense_Mutation_p.S93L	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	93	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.S93L(1)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCCCCACCCTCAGCCAAGGTG	0.617																																						uc002ipa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(277-279)TCA>TTA		neurexophilin 3 precursor							29.0	35.0	33.0					17																	47656181		2203	4300	6503	SO:0001583	missense	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656181C>T	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.278C>T	17.37:g.47656181C>T	ENSP00000329295:p.Ser93Leu					NXPH3_uc010wlw.1_Missense_Mutation_p.S93L	p.S93L	NM_007225	NP_009156	O95157	NXPH3_HUMAN			2	562	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		93			III.		Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	ENST00000328741.5	37	c.278C>T	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.261433	0.39995	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.76	4.76	0.60689	.	0.142361	0.45606	D	0.000346	T	0.43144	0.1234	L	0.34521	1.04	0.22581	N	0.998969	D;B	0.53312	0.959;0.322	P;B	0.50860	0.652;0.179	T	0.37979	-0.9682	9	0.72032	D	0.01	-23.6141	14.408	0.67096	0.0:0.8516:0.1484:0.0	.	93;93	D6RGW2;O95157	.;NXPH3_HUMAN	L	93	.	ENSP00000329295:S93L	S	+	2	0	NXPH3	45011180	0.441000	0.25626	0.103000	0.21229	0.381000	0.30169	3.576000	0.53878	2.474000	0.83562	0.556000	0.70494	TCA		PASS	0.617	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			11	42	11	42	---	---	---	---
DGKE	8526	broad.mit.edu	37	17	54926589	54926589	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr17:54926589C>T	ENST00000284061.3	+	7	1274	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	365					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.P365L(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTAAGAAAACCCAAGGTATGT	0.383																																						uc002iur.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1093-1095)CCC>CTC		diacylglycerol kinase epsilon							130.0	120.0	123.0					17																	54926589		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54926589C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1094C>T	17.37:g.54926589C>T	ENSP00000284061:p.Pro365Leu					DGKE_uc002ius.1_Missense_Mutation_p.P365L	p.P365L	NM_003647	NP_003638	P52429	DGKE_HUMAN			7	1274	+	Breast(9;3.59e-07)		365					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.1094C>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018548	0.54576	.	.	ENSG00000153933	ENST00000284061	T	0.42900	0.96	5.62	4.65	0.58169	.	0.045942	0.85682	D	0.000000	T	0.34890	0.0913	L	0.46614	1.455	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.11372	-1.0590	10	0.21014	T	0.42	.	11.8327	0.52305	0.0:0.8592:0.0:0.1408	.	365;365	A1L4Q0;P52429	.;DGKE_HUMAN	L	365	ENSP00000284061:P365L	ENSP00000284061:P365L	P	+	2	0	DGKE	52281588	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.936000	0.40183	1.387000	0.46486	0.650000	0.86243	CCC		PASS	0.383	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		11	102	11	102	---	---	---	---
UNK	85451	broad.mit.edu	37	17	73811302	73811302	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr17:73811302G>T	ENST00000589666.1	+	7	1039	c.929G>T	c.(928-930)cGa>cTa	p.R310L	UNK_ENST00000293218.3_Missense_Mutation_p.R386L	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	310							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R310L(1)|p.R386L(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGTCCCCGAGGACCCTTC	0.637																																						uc002jpm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1156-1158)CGA>CTA		zinc finger CCCH-type domain containing 5							147.0	157.0	154.0					17																	73811302		2084	4203	6287	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73811302G>T	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.929G>T	17.37:g.73811302G>T	ENSP00000464893:p.Arg310Leu						p.R386L	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1157	+			310			C3H1-type 5.			Missense_Mutation	SNP	ENST00000589666.1	37	c.1157G>T	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	35	5.474177	0.96291	.	.	ENSG00000132478	ENST00000293218	T	0.49432	0.78	4.98	4.98	0.66077	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79310	-0.1856	10	0.87932	D	0	-11.1198	18.4501	0.90700	0.0:0.0:1.0:0.0	.	310	Q9C0B0	UNK_HUMAN	L	386	ENSP00000293218:R386L	ENSP00000293218:R386L	R	+	2	0	UNK	71322897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.625000	0.98406	2.595000	0.87683	0.561000	0.74099	CGA		PASS	0.637	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		58	168	58	168	---	---	---	---
SEPT9	10801	broad.mit.edu	37	17	75398373	75398373	+	Silent	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr17:75398373G>T	ENST00000427177.1	+	3	435	c.309G>T	c.(307-309)ccG>ccT	p.P103P	SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Silent_p.P96P|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000590294.1_Silent_p.P85P|SEPT9_ENST00000329047.8_Silent_p.P85P|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Silent_p.P84P|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000585930.1_5'Flank	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	103					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P103P(1)|p.P85P(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CGGCCGAGCCGGTGTCCCGGC	0.697																																						uc002jts.3																			2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)	3						c.(307-309)CCG>CCT		septin 9 isoform a							14.0	17.0	16.0					17																	75398373		1881	4036	5917	SO:0001819	synonymous_variant	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding	g.chr17:75398373G>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.309G>T	17.37:g.75398373G>T						SEPT9_uc010wtk.1_Silent_p.P84P|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Silent_p.P85P|SEPT9_uc002jtv.2_Silent_p.P96P|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank	p.P103P	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		3	435	+			103					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	ENST00000427177.1	37	c.309G>T	CCDS45790.1																																																																																				PASS	0.697	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		3	6	3	6	---	---	---	---
ADCYAP1	116	broad.mit.edu	37	18	909481	909481	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr18:909481G>A	ENST00000579794.1	+	4	654	c.376G>A	c.(376-378)Gag>Aag	p.E126K	RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.E126K|RP11-672L10.2_ENST00000581719.2_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	126					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.E126K(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGACGACGCGGAGCCGCTCTC	0.667																																						uc010dkg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)GAG>AAG		adenylate cyclase activating polypeptide							38.0	50.0	46.0					18																	909481		2202	4300	6502	SO:0001583	missense	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:909481G>A	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.376G>A	18.37:g.909481G>A	ENSP00000462647:p.Glu126Lys					ADCYAP1_uc010dkh.2_Missense_Mutation_p.E126K	p.E126K	NM_001099733	NP_001093203	P18509	PACA_HUMAN			5	495	+			126					B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	c.376G>A	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204394	0.79127	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	4.94	4.07	0.47477	.	0.286252	0.38111	N	0.001813	T	0.40171	0.1106	L	0.45352	1.415	0.49582	D	0.999806	P	0.39665	0.682	B	0.30401	0.115	T	0.24548	-1.0157	9	0.33141	T	0.24	.	13.1989	0.59756	0.0779:0.0:0.9221:0.0	.	126	P18509	PACA_HUMAN	K	265;126;126	.	ENSP00000269200:E126K	E	+	1	0	ADCYAP1	899481	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	6.739000	0.74827	1.082000	0.41137	0.579000	0.79373	GAG		PASS	0.667	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		28	62	28	62	---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39593460	39593460	+	Missense_Mutation	SNP	G	G	A	rs572158415		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr18:39593460G>A	ENST00000262039.4	+	11	1311	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	PIK3C3_ENST00000398870.3_Missense_Mutation_p.D346N	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	409	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.D409N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TGAAAATTTTGATGATATAAA	0.313										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(1)|breast(1)	10						c.(1225-1227)GAT>AAT		catalytic phosphatidylinositol 3-kinase 3							80.0	87.0	85.0					18																	39593460		2203	4299	6502	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39593460G>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1225G>A	18.37:g.39593460G>A	ENSP00000262039:p.Asp409Asn	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.D346N	p.D409N	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			11	1283	+			409					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1225G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574742	0.45902	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.63580	-0.05;-0.05	5.34	5.34	0.76211	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	1.123940	0.06343	N	0.708268	T	0.59998	0.2235	L	0.35854	1.095	0.80722	D	1	B;B	0.14012	0.009;0.0	B;B	0.18263	0.021;0.003	T	0.28267	-1.0049	9	.	.	.	.	19.3985	0.94619	0.0:0.0:1.0:0.0	.	346;409	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	N	409;346	ENSP00000262039:D409N;ENSP00000381845:D346N	.	D	+	1	0	PIK3C3	37847458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.146000	0.64845	2.649000	0.89929	0.650000	0.86243	GAT		PASS	0.313	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		24	260	24	260	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47792749	47792749	+	IGR	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr18:47792749A>G	ENST00000591416.1	-	0	4905				CCDC11_ENST00000398545.4_Missense_Mutation_p.V9A			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V9A(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTCCCGCTGTACGGTGCCAAA	0.632																																						uc002lee.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(25-27)GTA>GCA		coiled-coil domain containing 11							96.0	103.0	101.0					18																	47792749		1964	4163	6127	SO:0001628	intergenic_variant	220136							g.chr18:47792749A>G	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669		18.37:g.47792749A>G							p.V9A	NM_145020	NP_659457	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	1	117	-			9					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.26T>C	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	4.801	0.148964	0.09185	.	.	ENSG00000172361	ENST00000398545	T	0.34472	1.36	4.46	2.02	0.26589	.	0.427253	0.15422	U	0.263210	T	0.24928	0.0605	L	0.44542	1.39	0.09310	N	1	B	0.25667	0.131	B	0.22601	0.04	T	0.16660	-1.0395	10	0.36615	T	0.2	0.0	3.7011	0.08383	0.7088:0.0:0.1014:0.1898	.	9	Q96M91	CCD11_HUMAN	A	9	ENSP00000381553:V9A	ENSP00000381553:V9A	V	-	2	0	CCDC11	46046747	0.052000	0.20516	0.000000	0.03702	0.001000	0.01503	1.442000	0.35046	0.453000	0.26858	-0.371000	0.07208	GTA		PASS	0.632	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		37	154	37	154	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56274624	56274624	+	Missense_Mutation	SNP	C	C	T	rs565612566		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr18:56274624C>T	ENST00000361673.3	-	3	370	c.157G>A	c.(157-159)Gat>Aat	p.D53N		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	53	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D53N(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCACTCCCATCGATGGCCTGA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		20844	0.0		0.001	False		,,,				2504	0.0					uc002lhj.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(157-159)GAT>AAT		heart alpha-kinase							85.0	82.0	83.0					18																	56274624		1885	4117	6002	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274624C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.157G>A	18.37:g.56274624C>T	ENSP00000354991:p.Asp53Asn						p.D53N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			3	371	-			53			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.157G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831385	0.32329	.	.	ENSG00000198796	ENST00000361673	T	0.64991	-0.13	5.9	2.8	0.32819	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58595	0.2133	L	0.53671	1.685	0.09310	N	1	D	0.61697	0.99	P	0.48524	0.58	T	0.47724	-0.9095	9	0.37606	T	0.19	-0.3293	5.7107	0.17933	0.0:0.6043:0.0:0.3957	.	53	Q86TB3	ALPK2_HUMAN	N	53	ENSP00000354991:D53N	ENSP00000354991:D53N	D	-	1	0	ALPK2	54425604	0.002000	0.14202	0.088000	0.20740	0.003000	0.03518	1.043000	0.30316	0.850000	0.35239	-0.191000	0.12829	GAT		PASS	0.373	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		33	116	33	116	---	---	---	---
PRTN3	5657	broad.mit.edu	37	19	847957	847957	+	Silent	SNP	G	G	A	rs561650737		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:847957G>A	ENST00000234347.5	+	5	805	c.759G>A	c.(757-759)aaG>aaA	p.K253K	PRTN3_ENST00000544537.2_Silent_p.K212K	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	253					collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K253K(1)		lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGCCAAGGGCCGCCCCT	0.662																																						uc002lqa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(757-759)AAG>AAA		myeloblastin							32.0	26.0	28.0					19																	847957		2199	4297	6496	SO:0001819	synonymous_variant	5657				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:847957G>A		CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"""myeloblastin"", ""serine proteinase, neutrophil"", ""Wegener granulomatosis autoantigen"""	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.759G>A	19.37:g.847957G>A							p.K253K	NM_002777	NP_002768	P24158	PRTN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	783	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	253					P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Silent	SNP	ENST00000234347.5	37	c.759G>A	CCDS32860.1																																																																																				PASS	0.662	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457888.2	NM_002777		3	10	3	10	---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11527689	11527689	+	Silent	SNP	G	G	A	rs373102451		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:11527689G>A	ENST00000380456.3	-	3	255	c.192C>T	c.(190-192)agC>agT	p.S64S	RGL3_ENST00000393423.3_Silent_p.S64S	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	64					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S64S(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CCCTCACCTTGCTGGTTCGAT	0.637																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(190-192)AGC>AGT		ral guanine nucleotide dissociation							46.0	47.0	47.0					19																	11527689		2203	4300	6503	SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527689G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.192C>T	19.37:g.11527689G>A						RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.S64S|RGL3_uc002mrq.2_Silent_p.S64S	p.S64S	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			3	256	-			64					B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.192C>T	CCDS32910.1																																																																																				PASS	0.637	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		17	28	17	28	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13616887	13616887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:13616887G>T	ENST00000360228.5	-	1	151	c.152C>A	c.(151-153)tCa>tAa	p.S51*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.S51*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	51					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.S51*(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGCGCCATTGACTGCTTGTA	0.687																																						uc010dze.2																			3	Substitution - Nonsense(3)		lung(3)	large_intestine(2)	2						c.(151-153)TCA>TAA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						85.0	90.0	88.0					19																	13616887		2077	4212	6289	SO:0001587	stop_gained	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13616887G>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.152C>A	19.37:g.13616887G>T	ENSP00000353362:p.Ser51*					CACNA1A_uc002mwy.3_Nonsense_Mutation_p.S51*	p.S51*	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		1	388	-			51			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	37	c.152C>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	40	8.442518	0.98813	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	3.04	1.98	0.26296	.	0.000000	0.49916	U	0.000124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1312	0.36846	0.1155:0.0:0.8845:0.0	.	.	.	.	X	51	.	ENSP00000317661:S51X	S	-	2	0	CACNA1A	13477887	1.000000	0.71417	0.976000	0.42696	0.948000	0.59901	9.247000	0.95444	0.478000	0.27488	0.508000	0.49915	TCA		PASS	0.687	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	26	5	26	---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18277041	18277041	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:18277041G>C	ENST00000593731.1	+	12	2048	c.1488G>C	c.(1486-1488)caG>caC	p.Q496H	PIK3R2_ENST00000222254.8_Missense_Mutation_p.Q496H			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	496					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.Q496H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	AGCAGGGCCAGACTCAAGAGA	0.567																																						uc002nia.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1486-1488)CAG>CAC		phosphoinositide-3-kinase, regulatory subunit 2							70.0	70.0	70.0					19																	18277041		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18277041G>C		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1488G>C	19.37:g.18277041G>C	ENSP00000471914:p.Gln496His					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.Q496H	NM_005027	NP_005018	O00459	P85B_HUMAN			12	2000	+			496					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1488G>C	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138383	0.21123	.	.	ENSG00000105647	ENST00000222254	T	0.47528	0.84	4.37	4.37	0.52481	.	0.114060	0.64402	D	0.000011	T	0.28830	0.0715	N	0.04768	-0.165	0.50313	D	0.999862	D	0.62365	0.991	P	0.47299	0.543	T	0.02966	-1.1088	10	0.21014	T	0.42	-46.1879	10.4849	0.44715	0.0917:0.0:0.9083:0.0	.	496	O00459	P85B_HUMAN	H	496	ENSP00000222254:Q496H	ENSP00000222254:Q496H	Q	+	3	2	PIK3R2	18138041	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.874000	0.39568	2.378000	0.81104	0.561000	0.74099	CAG		PASS	0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		31	57	31	57	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33698458	33698458	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:33698458G>T	ENST00000253193.7	+	7	2492	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	764					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.D764Y(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCCAGCGATGATGAGGCCCT	0.657																																						uc010edh.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2290-2292)GAT>TAT		low density lipoprotein receptor-related protein							16.0	18.0	17.0					19																	33698458		2159	4210	6369	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33698458G>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2290G>T	19.37:g.33698458G>T	ENSP00000253193:p.Asp764Tyr					LRP3_uc002nuk.3_Missense_Mutation_p.D638Y	p.D764Y	NM_002333	NP_002324	O75074	LRP3_HUMAN			7	2383	+	Esophageal squamous(110;0.137)		764			Cytoplasmic (Potential).		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.2290G>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866584	0.32977	.	.	ENSG00000130881	ENST00000253193	D	0.89552	-2.53	4.7	3.66	0.41972	.	0.232714	0.29355	N	0.012393	T	0.81541	0.4844	N	0.24115	0.695	0.09310	N	1	P;P	0.47350	0.875;0.894	P;B	0.44732	0.459;0.365	T	0.74575	-0.3620	10	0.87932	D	0	-24.1085	6.6407	0.22906	0.0969:0.1802:0.7229:0.0	.	764;682	O75074;B7ZAJ9	LRP3_HUMAN;.	Y	764	ENSP00000253193:D764Y	ENSP00000253193:D764Y	D	+	1	0	LRP3	38390298	0.322000	0.24634	0.847000	0.33407	0.366000	0.29705	2.753000	0.47524	1.211000	0.43351	0.484000	0.47621	GAT		PASS	0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			11	41	11	41	---	---	---	---
ZNF546	339327	broad.mit.edu	37	19	40519754	40519754	+	Missense_Mutation	SNP	G	G	A	rs144973655	byFrequency	TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:40519754G>A	ENST00000347077.4	+	7	793	c.577G>A	c.(577-579)Gtt>Att	p.V193I	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.V167I	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V193I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GATGGGATGCGTTAGTCAAAT	0.358																																						uc002oms.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(577-579)GTT>ATT		zinc finger protein 546		G	ILE/VAL	0,4406		0,0,2203	92.0	88.0	89.0		577	-2.3	0.0	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF546	NM_178544.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	193/837	40519754	1,13005	2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40519754G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.577G>A	19.37:g.40519754G>A	ENSP00000339823:p.Val193Ile					ZNF546_uc002omt.2_Missense_Mutation_p.V167I	p.V193I	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			7	833	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		193					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.577G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	1.153	-0.646018	0.03531	0.0	1.16E-4	ENSG00000187187	ENST00000347077	T	0.07021	3.23	2.64	-2.32	0.06745	.	.	.	.	.	T	0.03178	0.0093	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46569	-0.9182	9	0.21540	T	0.41	.	6.4364	0.21825	0.5225:0.0:0.4775:0.0	.	167;193	B3KVL3;Q86UE3	.;ZN546_HUMAN	I	193	ENSP00000339823:V193I	ENSP00000339823:V193I	V	+	1	0	ZNF546	45211594	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.027000	0.03592	-0.415000	0.07484	-0.964000	0.02622	GTT		PASS	0.358	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		30	87	30	87	---	---	---	---
SYT3	84258	broad.mit.edu	37	19	51132654	51132654	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:51132654G>A	ENST00000338916.4	-	4	1811	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	SYT3_ENST00000593901.1_Missense_Mutation_p.S393L|SYT3_ENST00000600079.1_Missense_Mutation_p.S393L|SYT3_ENST00000544769.1_Missense_Mutation_p.S393L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	393	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.S393L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTCGTGCCGCGAGAAGCGGTC	0.637																																						uc002pst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1177-1179)TCG>TTG		synaptotagmin III							68.0	70.0	69.0					19																	51132654		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51132654G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1178C>T	19.37:g.51132654G>A	ENSP00000340914:p.Ser393Leu					SYT3_uc002psv.2_Missense_Mutation_p.S393L|SYT3_uc010ycd.1_Missense_Mutation_p.S393L	p.S393L	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	4	1812	-		all_neural(266;0.131)	393			C2 1.|Cytoplasmic (Potential).	Calcium 3 (By similarity).	Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.1178C>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942068	0.92526	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.09723	2.95;2.95	4.33	4.33	0.51752	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	U	0.000018	T	0.29491	0.0735	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.05500	-1.0881	10	0.87932	D	0	.	15.9634	0.79948	0.0:0.0:1.0:0.0	.	393	Q9BQG1	SYT3_HUMAN	L	393	ENSP00000340914:S393L;ENSP00000438883:S393L	ENSP00000340914:S393L	S	-	2	0	SYT3	55824466	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.658000	0.83755	2.126000	0.65437	0.655000	0.94253	TCG		PASS	0.637	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		24	28	24	28	---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133481	57133481	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:57133481G>T	ENST00000328070.6	+	3	1060	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G276W(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCCCGAGTGCGGGCGAGCCTT	0.662																																						uc002qnm.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(826-828)GGG>TGG		zinc finger protein 71							53.0	56.0	55.0					19																	57133481		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133481G>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.826G>T	19.37:g.57133481G>T	ENSP00000328245:p.Gly276Trp						p.G276W	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1064	+			276			C2H2-type 6.		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.826G>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550722	0.65311	.	.	ENSG00000197951	ENST00000328070	T	0.58940	0.3	3.82	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81216	0.4776	H	0.95504	3.68	0.37669	D	0.923046	D	0.89917	1.0	D	0.91635	0.999	D	0.86682	0.1917	9	0.66056	D	0.02	.	12.2023	0.54333	0.0:0.1739:0.8261:0.0	.	276	Q9NQZ8	ZNF71_HUMAN	W	276	ENSP00000328245:G276W	ENSP00000328245:G276W	G	+	1	0	ZNF71	61825293	1.000000	0.71417	0.009000	0.14445	0.980000	0.70556	6.441000	0.73439	0.792000	0.33850	0.561000	0.74099	GGG		PASS	0.662	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		30	33	30	33	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10622443	10622443	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr20:10622443G>A	ENST00000254958.5	-	22	3185	c.2670C>T	c.(2668-2670)atC>atT	p.I890I	JAG1_ENST00000423891.2_Silent_p.I731I	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	890					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.I890I(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTGAGCAGGCGATCCGTCCAT	0.527									Alagille Syndrome																													uc002wnw.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2668-2670)ATC>ATT		jagged 1 precursor							220.0	184.0	197.0					20																	10622443		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10622443G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2670C>T	20.37:g.10622443G>A						JAG1_uc010gcd.1_Silent_p.I448I	p.I890I	NM_000214	NP_000205	P78504	JAG1_HUMAN			22	3186	-			890			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2670C>T	CCDS13112.1																																																																																				PASS	0.527	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		25	185	25	185	---	---	---	---
NDUFAF5	79133	broad.mit.edu	37	20	13782282	13782282	+	Missense_Mutation	SNP	G	G	A	rs149637004		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr20:13782282G>A	ENST00000378106.5	+	7	789	c.670G>A	c.(670-672)Gac>Aac	p.D224N	NDUFAF5_ENST00000463598.1_Missense_Mutation_p.D196N|NDUFAF5_ENST00000475968.1_3'UTR	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	224					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)	p.D224H(1)|p.D224N(1)									TGCTGTCAATGACCTGGGACA	0.438																																						uc002wom.2																			2	Substitution - Missense(2)		lung(2)		0						c.(670-672)GAC>AAC		hypothetical protein LOC79133 isoform 1		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	129.0	123.0	125.0		586,670	5.5	1.0	20	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C20orf7	NM_001039375.2,NM_024120.4	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	196/318,224/346	13782282	1,13005	2203	4300	6503	SO:0001583	missense	79133				mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity	g.chr20:13782282G>A		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.670G>A	20.37:g.13782282G>A	ENSP00000367346:p.Asp224Asn					C20orf7_uc002wol.1_3'UTR|C20orf7_uc002won.2_Missense_Mutation_p.D196N|C20orf7_uc002woo.2_RNA	p.D224N	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN			7	703	+		Myeloproliferative disorder(85;0.00878)	224					A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	37	c.670G>A	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289714	0.95546	0.0	1.16E-4	ENSG00000101247	ENST00000378106;ENST00000536501;ENST00000463598	D;D	0.84660	-1.88;-1.88	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	H	0.98802	4.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.97776	1.0229	10	0.87932	D	0	-44.5345	19.3518	0.94392	0.0:0.0:1.0:0.0	.	196;224	Q5TEU4-2;Q5TEU4	.;CT007_HUMAN	N	224;224;196	ENSP00000367346:D224N;ENSP00000420497:D196N	ENSP00000437325:D224N	D	+	1	0	C20orf7	13730282	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.138000	0.94501	2.571000	0.86741	0.650000	0.86243	GAC		PASS	0.438	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		27	101	27	101	---	---	---	---
CCM2L	140706	broad.mit.edu	37	20	30616874	30616874	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr20:30616874G>C	ENST00000300415.8	+	8	1223	c.1210G>C	c.(1210-1212)Ggc>Cgc	p.G404R	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_Silent_p.A382A			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	404								p.G404R(1)|p.A382A(1)									CCACTGCAGCGGCAGCGACCA	0.592																																						uc002wxf.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(1144-1146)GCG>GCC		hypothetical protein LOC140706							155.0	139.0	144.0					20																	30616874		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30616874G>C	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1210G>C	20.37:g.30616874G>C	ENSP00000300415:p.Gly404Arg					C20orf160_uc002wxg.2_5'UTR	p.A382A	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN			7	1159	+			Error:Variant_position_missing_in_Q9NUG4_after_alignment					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37	c.1146G>C		.	.	.	.	.	.	.	.	.	.	G	15.06	2.721797	0.48728	.	.	ENSG00000101331	ENST00000300415;ENST00000452892	T;T	0.36699	1.24;1.24	5.21	-5.77	0.02369	.	0.727883	0.14356	N	0.324751	T	0.31327	0.0793	.	.	.	0.23459	N	0.997633	.	.	.	.	.	.	T	0.19095	-1.0316	7	0.22706	T	0.39	-13.1093	17.2721	0.87105	0.1662:0.0:0.8338:0.0	.	.	.	.	R	404;157	ENSP00000300415:G404R;ENSP00000392448:G157R	ENSP00000300415:G404R	G	+	1	0	C20orf160	30080535	1.000000	0.71417	0.796000	0.32109	0.808000	0.45660	0.934000	0.28910	-1.010000	0.03396	-0.379000	0.06801	GGC		PASS	0.592	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		30	226	30	226	---	---	---	---
CEBPB	1051	broad.mit.edu	37	20	48808476	48808476	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr20:48808476G>A	ENST00000303004.3	+	1	1101	c.906G>A	c.(904-906)aaG>aaA	p.K302K		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	302	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K302K(1)		NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CGCAGCACAAGGTCCTGGAGC	0.637																																						uc002xvi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(904-906)AAG>AAA		CCAAT/enhancer binding protein beta							46.0	43.0	44.0					20																	48808476		2202	4300	6502	SO:0001819	synonymous_variant	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48808476G>A	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.906G>A	20.37:g.48808476G>A						CEBPB_uc002xvh.2_RNA	p.K302K	NM_005194	NP_005185	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	1101	+			302					A8K671|Q96IH2|Q9H4Z5	Silent	SNP	ENST00000303004.3	37	c.906G>A	CCDS13429.1																																																																																				PASS	0.637	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		11	39	11	39	---	---	---	---
KRTAP13-1	140258	broad.mit.edu	37	21	31768611	31768611	+	Silent	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr21:31768611C>T	ENST00000355459.2	+	1	220	c.207C>T	c.(205-207)tcC>tcT	p.S69S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	69	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.S69S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCAGACATCCTATGTGGAGT	0.602																																						uc002yoa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(205-207)TCC>TCT		keratin associated protein 13-1							59.0	60.0	60.0					21																	31768611		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768611C>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.207C>T	21.37:g.31768611C>T							p.S69S	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	220	+			69			3.|5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.207C>T	CCDS13590.2																																																																																				PASS	0.602	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			28	39	28	39	---	---	---	---
KRTAP13-1	140258	broad.mit.edu	37	21	31768915	31768915	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr21:31768915T>C	ENST00000355459.2	+	1	524	c.511T>C	c.(511-513)Tac>Cac	p.Y171H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	171						intermediate filament (GO:0005882)		p.Y171H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCAGGCTTCTACTATTGATC	0.443																																						uc002yoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(511-513)TAC>CAC		keratin associated protein 13-1							39.0	38.0	38.0					21																	31768915		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768915T>C	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.511T>C	21.37:g.31768915T>C	ENSP00000347635:p.Tyr171His						p.Y171H	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	524	+			171					Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.511T>C	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927699	0.18056	.	.	ENSG00000198390	ENST00000355459	T	0.19806	2.12	0.225	0.225	0.15325	.	1.321610	0.05317	N	0.525870	T	0.23926	0.0579	M	0.66939	2.045	0.09310	N	1	B	0.20368	0.044	B	0.20384	0.029	T	0.36237	-0.9756	9	0.52906	T	0.07	.	.	.	.	.	171	Q8IUC0	KR131_HUMAN	H	171	ENSP00000347635:Y171H	ENSP00000347635:Y171H	Y	+	1	0	KRTAP13-1	30690786	0.005000	0.15991	0.010000	0.14722	0.297000	0.27493	0.310000	0.19356	0.257000	0.21650	0.254000	0.18369	TAC		PASS	0.443	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			11	31	11	31	---	---	---	---
SIK1	150094	broad.mit.edu	37	21	44837498	44837498	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr21:44837498C>T	ENST00000270162.6	-	13	2033	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	634					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.S634N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CAGGCCTGGGCTCTGTGCAGG	0.736																																						uc002zdf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						c.(1900-1902)AGC>AAC		salt-inducible kinase 1							11.0	12.0	12.0					21																	44837498		2166	4233	6399	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44837498C>T	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1901G>A	21.37:g.44837498C>T	ENSP00000270162:p.Ser634Asn						p.S634N	NM_173354	NP_775490	P57059	SIK1_HUMAN			13	2028	-			634					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.1901G>A	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	C	0.888	-0.726377	0.03158	.	.	ENSG00000142178	ENST00000270162	T	0.71103	-0.54	4.07	-0.227	0.13102	.	0.651684	0.15321	N	0.268526	T	0.42494	0.1205	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14559	-1.0468	10	0.17369	T	0.5	.	3.4543	0.07510	0.0:0.297:0.2145:0.4885	.	634	P57059	SIK1_HUMAN	N	634	ENSP00000270162:S634N	ENSP00000270162:S634N	S	-	2	0	SIK1	43661926	0.526000	0.26298	0.008000	0.14137	0.106000	0.19336	-0.170000	0.09897	0.309000	0.22966	0.655000	0.94253	AGC		PASS	0.736	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		4	10	4	10	---	---	---	---
RRP1	8568	broad.mit.edu	37	21	45217800	45217800	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr21:45217800G>T	ENST00000497547.1	+	8	747	c.630G>T	c.(628-630)ttG>ttT	p.L210F	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L210F(1)		central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CCTTGGTTTTGAACAACATCA	0.582																																						uc002zds.2																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)TTG>TTT		ribosomal RNA processing 1 homolog							73.0	75.0	74.0					21																	45217800		2027	4191	6218	SO:0001583	missense	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45217800G>T	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.630G>T	21.37:g.45217800G>T	ENSP00000417464:p.Leu210Phe					RRP1_uc011aez.1_Missense_Mutation_p.L210F|RRP1_uc010gpk.1_Missense_Mutation_p.L60F|RRP1_uc010gpl.1_Missense_Mutation_p.L108F|RRP1_uc010gpm.1_Missense_Mutation_p.L77F	p.L210F	NM_003683	NP_003674	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	8	723	+			210					A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	c.630G>T	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	G	1.997	-0.430411	0.04669	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.46063	0.88	4.24	-0.0507	0.13829	.	0.290365	0.33419	N	0.004927	T	0.24044	0.0582	N	0.20685	0.6	0.09310	N	0.999994	B;B;B	0.28208	0.203;0.032;0.12	B;B;B	0.32583	0.148;0.067;0.105	T	0.16070	-1.0415	10	0.87932	D	0	-15.7003	4.0949	0.09986	0.3433:0.1861:0.4706:0.0	.	210;77;210	B4DZM3;Q96J73;P56182	.;.;RRP1_HUMAN	F	210	ENSP00000417464:L210F	ENSP00000383237:L210F	L	+	3	2	RRP1	44042228	0.351000	0.24887	0.024000	0.17045	0.004000	0.04260	0.170000	0.16663	0.010000	0.14839	-0.264000	0.10439	TTG		PASS	0.582	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		3	51	3	51	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47783431	47783431	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr21:47783431C>G	ENST00000359568.5	+	14	2298	c.2191C>G	c.(2191-2193)Cta>Gta	p.L731V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	731	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.L731V(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCAGAAGGAACTAAATAATGC	0.383																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(2191-2193)CTA>GTA		pericentrin							136.0	138.0	137.0					21																	47783431		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783431C>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2191C>G	21.37:g.47783431C>G	ENSP00000352572:p.Leu731Val					PCNT_uc002zjj.2_Missense_Mutation_p.L613V	p.L731V	NM_006031	NP_006022	O95613	PCNT_HUMAN			14	2298	+	Breast(49;0.112)		731			Glu-rich.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2191C>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022199	0.07634	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.24350	1.86	5.0	-1.0	0.10196	.	0.000000	0.28109	N	0.016564	T	0.12944	0.0314	L	0.50333	1.59	0.09310	N	1	B;P	0.37636	0.154;0.603	B;B	0.32762	0.048;0.152	T	0.14811	-1.0459	10	0.14252	T	0.57	.	0.459	0.00513	0.1836:0.2416:0.2689:0.3058	.	613;731	O95613-2;O95613	.;PCNT_HUMAN	V	731;718	ENSP00000352572:L731V	ENSP00000338675:L718V	L	+	1	2	PCNT	46607859	0.822000	0.29219	0.001000	0.08648	0.016000	0.09150	0.177000	0.16801	-0.092000	0.12417	-0.145000	0.13849	CTA		PASS	0.383	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		46	123	46	123	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26304368	26304368	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr22:26304368T>C	ENST00000407587.2	+	32	5400	c.5231T>C	c.(5230-5232)cTg>cCg	p.L1744P	MYO18B_ENST00000335473.7_Missense_Mutation_p.L1743P|MYO18B_ENST00000536101.1_Missense_Mutation_p.L1743P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1743	Gln-rich.|Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L1744P(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGAGGAACTGGAGGATGTC	0.602																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(5227-5229)CTG>CCG		myosin XVIIIB							51.0	64.0	60.0					22																	26304368		2130	4238	6368	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26304368T>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5231T>C	22.37:g.26304368T>C	ENSP00000386096:p.Leu1744Pro					MYO18B_uc003aca.1_Missense_Mutation_p.L1624P|MYO18B_uc010guy.1_Missense_Mutation_p.L1625P|MYO18B_uc010guz.1_Missense_Mutation_p.L1623P|MYO18B_uc011aka.1_Missense_Mutation_p.L897P|MYO18B_uc011akb.1_Missense_Mutation_p.L1256P	p.L1743P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			32	5478	+			1743			Potential.|Tail.|Gln-rich.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5228T>C		.	.	.	.	.	.	.	.	.	.	T	24.3	4.513313	0.85389	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89875	-2.57;-2.57;-2.58	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000020	D	0.93835	0.8028	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94418	0.7638	10	0.87932	D	0	.	13.8294	0.63370	0.0:0.0:0.0:1.0	.	1256;1743;1744;1743	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	P	1743;1743;1744	ENSP00000441229:L1743P;ENSP00000334563:L1743P;ENSP00000386096:L1744P	ENSP00000334563:L1743P	L	+	2	0	MYO18B	24634368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.432000	0.80349	2.149000	0.67028	0.533000	0.62120	CTG		PASS	0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	5	4	5	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42166741	42166741	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr22:42166741C>A	ENST00000401548.3	+	20	2360	c.2320C>A	c.(2320-2322)Cta>Ata	p.L774I	MEI1_ENST00000540880.1_Missense_Mutation_p.L92I|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.L142I	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.L780I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGACCTGCAGCTAGTCTATAC	0.483																																						uc003baz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2320-2322)CTA>ATA		meiosis defective 1							83.0	79.0	80.0					22																	42166741		1955	4141	6096	SO:0001583	missense	150365						binding	g.chr22:42166741C>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2320C>A	22.37:g.42166741C>A	ENSP00000384115:p.Leu774Ile					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.L160I|MEI1_uc003bbc.1_Missense_Mutation_p.L142I|MEI1_uc010gym.1_Missense_Mutation_p.L142I|MEI1_uc003bbd.1_Missense_Mutation_p.L17I	p.L774I	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			20	2345	+			774						Missense_Mutation	SNP	ENST00000401548.3	37	c.2320C>A	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	6.782	0.513243	0.12944	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000540880	T;T;T	0.65732	-0.17;1.82;0.78	5.31	0.753	0.18404	.	0.522088	0.18598	N	0.136550	T	0.53318	0.1789	L	0.46157	1.445	0.18873	N	0.999988	B;P;P;B	0.50272	0.051;0.745;0.933;0.001	B;B;P;B	0.46825	0.027;0.431;0.528;0.012	T	0.43376	-0.9395	10	0.35671	T	0.21	.	5.8823	0.18862	0.0:0.6246:0.137:0.2384	.	142;17;142;774	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	I	774;142;92	ENSP00000384115:L774I;ENSP00000382978:L142I;ENSP00000437436:L92I	ENSP00000382978:L142I	L	+	1	2	MEI1	40496687	0.000000	0.05858	0.012000	0.15200	0.685000	0.39939	0.238000	0.18004	0.225000	0.20959	0.655000	0.94253	CTA		PASS	0.483	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		3	53	3	53	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31341742	31341742	+	Missense_Mutation	SNP	G	G	A	rs128626254		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chrX:31341742G>A	ENST00000357033.4	-	62	9403	c.9197C>T	c.(9196-9198)tCg>tTg	p.S3066L	DMD_ENST00000359836.1_Missense_Mutation_p.S606L|DMD_ENST00000378677.2_Missense_Mutation_p.S3062L|DMD_ENST00000343523.2_Missense_Mutation_p.S606L|DMD_ENST00000541735.1_Missense_Mutation_p.S606L|DMD_ENST00000474231.1_Missense_Mutation_p.S606L|DMD_ENST00000378707.3_Missense_Mutation_p.S606L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3066	Interaction with SYNM. {ECO:0000250}.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.S606L(2)|p.S3061L(2)|p.S3066L(1)|p.S3062L(1)|p.S1725L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGTTTGGCGAGATGGCTCT	0.403																																						uc004dda.1																			7	Substitution - Missense(7)		lung(5)|skin(2)	ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CM940363	DMD	M	rs128626254	c.(9196-9198)TCG>TTG		dystrophin Dp427m isoform							83.0	69.0	74.0					X																	31341742		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31341742G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9197C>T	X.37:g.31341742G>A	ENSP00000354923:p.Ser3066Leu					DMD_uc004dcq.1_Missense_Mutation_p.S337L|DMD_uc004dcr.1_Missense_Mutation_p.S606L|DMD_uc004dcs.1_Missense_Mutation_p.S606L|DMD_uc004dct.1_Missense_Mutation_p.S606L|DMD_uc004dcu.1_Missense_Mutation_p.S606L|DMD_uc004dcv.1_Missense_Mutation_p.S606L|DMD_uc004dcw.2_Missense_Mutation_p.S1722L|DMD_uc004dcx.2_Missense_Mutation_p.S1725L|DMD_uc004dcz.2_Missense_Mutation_p.S2943L|DMD_uc004dcy.1_Missense_Mutation_p.S3062L|DMD_uc004ddb.1_Missense_Mutation_p.S3058L	p.S3066L	NM_004006	NP_003997	P11532	DMD_HUMAN			62	9441	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3066			Interaction with SYNM (By similarity).|WW.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.9197C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913342	0.92178	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.59	5.59	0.84812	WW/Rsp5/WWP (6);	0.000000	0.30911	U	0.008631	D	0.91365	0.7276	M	0.79475	2.455	0.52099	D	0.999941	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0;0.998;0.999;0.999;0.999;0.999;1.0	P;D;D;D;D;P;D;D;D;D;D	0.83275	0.814;0.989;0.989;0.996;0.996;0.895;0.937;0.937;0.989;0.981;0.982	D	0.91195	0.4987	9	.	.	.	.	18.8394	0.92176	0.0:0.0:1.0:0.0	.	3058;3066;3062;1725;1722;606;606;606;606;606;2943	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	L	3058;1725;1722;762;3062;3066;606;606;3066;2943;606;606;606	ENSP00000350765:S762L;ENSP00000367948:S3062L;ENSP00000354923:S3066L;ENSP00000352894:S606L;ENSP00000340057:S606L;ENSP00000367979:S606L;ENSP00000444119:S606L;ENSP00000417123:S606L	.	S	-	2	0	DMD	31251663	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.004000	0.76317	2.483000	0.83821	0.600000	0.82982	TCG		PASS	0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		20	28	20	28	---	---	---	---
PIM2	11040	broad.mit.edu	37	X	48775922	48775922	+	Splice_Site	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chrX:48775922C>A	ENST00000376509.4	-	2	251	c.62G>T	c.(61-63)gGa>gTa	p.G21V		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	21					apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G21V(1)		lung(3)|stomach(1)	4						ATCCTTGCCTCCTACGCAGGC	0.677																																						uc004dls.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)	4						c.(61-63)GGA>GTA		serine/threonine protein kinase pim-2							26.0	24.0	25.0					X																	48775922		2203	4299	6502	SO:0001630	splice_region_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48775922C>A	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.62-1G>T	X.37:g.48775922C>A							p.G21V	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			2	364	-			21					A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	c.62G>T	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944529	0.53079	.	.	ENSG00000102096	ENST00000376509	T	0.68765	-0.35	3.8	3.8	0.43715	Protein kinase-like domain (1);	0.275088	0.26590	N	0.023524	T	0.63046	0.2478	N	0.19112	0.55	0.58432	D	0.999994	D	0.76494	0.999	P	0.61275	0.886	T	0.58907	-0.7553	10	0.27082	T	0.32	.	10.1274	0.42658	0.0:1.0:0.0:0.0	.	21	Q9P1W9	PIM2_HUMAN	V	21	ENSP00000365692:G21V	ENSP00000365692:G21V	G	-	2	0	PIM2	48660866	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.718000	0.25866	2.144000	0.66660	0.544000	0.68410	GGA		PASS	0.677	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1		Missense_Mutation	3	24	3	24	---	---	---	---
AR	367	broad.mit.edu	37	X	66943546	66943546	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chrX:66943546C>A	ENST00000396044.3	+	5	2195	c.2192C>A	c.(2191-2193)tCa>tAa	p.S731*	AR_ENST00000374690.3_Missense_Mutation_p.Q876K|AR_ENST00000396043.2_Missense_Mutation_p.Q344K			P10275	ANDR_HUMAN	androgen receptor	0	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q876K(1)|p.Q694K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGAGCTGCATCAGTTCACTTT	0.483									Androgen Insensitivity Syndrome																													uc004dwu.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(2626-2628)CAG>AAG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						187.0	162.0	170.0					X																	66943546		2203	4300	6503	SO:0001587	stop_gained	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66943546C>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000396044.3:c.2192C>A	X.37:g.66943546C>A	ENSP00000379359:p.Ser731*					AR_uc004dwv.1_Missense_Mutation_p.Q344K	p.Q876K	NM_000044	NP_000035	P10275	ANDR_HUMAN			8	3741	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	875			Ligand-binding.|Interaction with MYST2.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000396044.3	37	c.2626C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.063161|6.063161	0.97246|0.97246	.|.	.|.	ENSG00000169083|ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043|ENST00000396044	D;D|.	0.99755|.	-6.64;-6.64|.	5.18|5.18	5.18|5.18	0.71444|0.71444	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72771|.	0.3502|.	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;P|.	0.63046|.	0.992;0.915|.	D;P|.	0.70487|.	0.969;0.773|.	T|.	0.69986|.	-0.4996|.	10|.	0.87932|0.10111	D|T	0|0.7	.|.	14.9089|14.9089	0.70740|0.70740	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;875|.	F1D8N5;P10275|.	.;ANDR_HUMAN|.	K|X	694;876;344|731	ENSP00000363822:Q876K;ENSP00000379358:Q344K|.	ENSP00000363822:Q876K|ENSP00000379359:S731X	Q|S	+|+	1|2	0|0	AR|AR	66860271|66860271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.640000|4.640000	0.61368|0.61368	2.401000|2.401000	0.81631|0.81631	0.594000|0.594000	0.82650|0.82650	CAG|TCA		PASS	0.483	AR-201	KNOWN	basic	protein_coding	protein_coding		NM_000044		71	72	71	72	---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71932781	71932781	+	Splice_Site	SNP	T	T	C			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chrX:71932781T>C	ENST00000373542.4	-	2	238		c.e2-2		PHKA1_ENST00000339490.3_Splice_Site|PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000373545.3_Splice_Site	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CACTGGATTCTGCAAGGTCAA	0.463																																						uc004eax.3																			1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e2-1		phosphorylase kinase, alpha 1 (muscle) isoform							44.0	39.0	41.0					X																	71932781		2203	4300	6503	SO:0001630	splice_region_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71932781T>C		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.79-2A>G	X.37:g.71932781T>C						PHKA1_uc004eay.3_Splice_Site_p.N27_splice|PHKA1_uc011mqi.1_Splice_Site_p.N27_splice	p.N27_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN			2	380	-	Renal(35;0.156)							B7ZL05|B7ZL07|Q2M3D7	Splice_Site	SNP	ENST00000373542.4	37	c.79_splice	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.482816	0.63962	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1335	0.48360	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHKA1	71849506	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.735000	0.84939	1.828000	0.53243	0.486000	0.48141	.		PASS	0.463	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		Intron	14	13	14	13	---	---	---	---
MAGEE2	139599	broad.mit.edu	37	X	75003366	75003366	+	Missense_Mutation	SNP	C	C	A	rs150153753	byFrequency	TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chrX:75003366C>A	ENST00000373359.2	-	1	1713	c.1521G>T	c.(1519-1521)gaG>gaT	p.E507D		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	507								p.E507D(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGCTCTGGCCTCCTCATCTT	0.458																																						uc004ecj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1519-1521)GAG>GAT		melanoma antigen family E, 2							97.0	71.0	80.0					X																	75003366		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75003366C>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1521G>T	X.37:g.75003366C>A	ENSP00000362457:p.Glu507Asp						p.E507D	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1706	-			507					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.1521G>T	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590030	0.46214	.	.	ENSG00000186675	ENST00000373359	T	0.04119	3.7	2.39	0.575	0.17374	.	.	.	.	.	T	0.16896	0.0406	M	0.85630	2.765	0.22620	N	0.998929	D	0.58970	0.984	D	0.65443	0.935	T	0.07558	-1.0766	9	0.45353	T	0.12	.	4.3795	0.11286	0.0:0.6391:0.0:0.3609	.	507	Q8TD90	MAGE2_HUMAN	D	507	ENSP00000362457:E507D	ENSP00000362457:E507D	E	-	3	2	MAGEE2	74920091	0.998000	0.40836	0.942000	0.38095	0.973000	0.67179	0.004000	0.13106	0.043000	0.15746	0.417000	0.27973	GAG		PASS	0.458	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		23	30	23	30	---	---	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135758808	135758808	+	Silent	SNP	C	C	T			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chrX:135758808C>T	ENST00000250617.6	-	18	3125	c.1920G>A	c.(1918-1920)tcG>tcA	p.S640S	ARHGEF6_ENST00000370620.1_Silent_p.S486S|ARHGEF6_ENST00000535227.1_Silent_p.S513S|ARHGEF6_ENST00000370622.1_Silent_p.S486S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	640					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S640S(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTCCTCCGATGGTTTTC	0.323													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13869	0.0		0.0	False		,,,				2504	0.0					uc004fab.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1918-1920)TCG>TCA		Rac/Cdc42 guanine nucleotide exchange factor 6							124.0	113.0	116.0					X																	135758808		2202	4299	6501	SO:0001819	synonymous_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135758808C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1920G>A	X.37:g.135758808C>T						ARHGEF6_uc011mwd.1_Silent_p.S513S|ARHGEF6_uc011mwe.1_Silent_p.S486S	p.S640S	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			18	2382	-	Acute lymphoblastic leukemia(192;0.000127)		640					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.1920G>A	CCDS14660.1																																																																																				PASS	0.323	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		25	47	25	47	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795447	142795447	+	Silent	SNP	G	G	A			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chrX:142795447G>A	ENST00000370498.1	-	2	984	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	77								p.S77S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGGGATTGATGGAGTTCTCTC	0.438																																						uc004fbz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(229-231)TCC>TCT		SPANX-N2 protein							301.0	275.0	284.0					X																	142795447		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142795447G>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.231C>T	X.37:g.142795447G>A							p.S77S	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	985	-	Acute lymphoblastic leukemia(192;6.56e-05)		77					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.231C>T	CCDS35419.1																																																																																				PASS	0.438	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		66	166	66	166	---	---	---	---
TSPY2	64591	broad.mit.edu	37	Y	6115610	6115610	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chrY:6115610A>G	ENST00000320701.4	+	3	618	c.572A>G	c.(571-573)gAa>gGa	p.E191G	TSPY2_ENST00000383042.1_Missense_Mutation_p.E191G	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	191					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E191G(1)		liver(1)|lung(4)|prostate(1)|skin(1)	7						CAGGTGGAAGAAGAGAAGCAT	0.448																																						uc004fqr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GAA>GGA		testis specific protein, Y-linked 2																																				SO:0001583	missense	64591				cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus		g.chrY:6115610A>G	AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.572A>G	Y.37:g.6115610A>G	ENSP00000314077:p.Glu191Gly					TSPY2_uc004fqs.1_Missense_Mutation_p.E191G	p.E191G	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN			3	618	+			191						Missense_Mutation	SNP	ENST00000320701.4	37	c.572A>G	CCDS35465.1	.	.	.	.	.	.	.	.	.	.	.	7.817	0.717032	0.15372	.	.	ENSG00000168757	ENST00000383042	T	0.32272	1.46	.	.	.	.	.	.	.	.	T	0.45094	0.1325	M	0.87269	2.87	0.29697	N	0.840506	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.50964	-0.8765	5	.	.	.	.	.	.	.	.	191;191	A6NGT6;A6NKD2	.;TSPY2_HUMAN	G	191	ENSP00000372512:E191G	.	E	+	2	0	TSPY2	6175610	0.893000	0.30496	0.008000	0.14137	0.010000	0.07245	0.617000	0.24359	0.455000	0.26910	0.055000	0.15244	GAA		PASS	0.448	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098313.1	NM_022573		25	105	25	105	---	---	---	---
LINC01347	731275	broad.mit.edu	37	1	243251423	243251423	+	lincRNA	DEL	A	A	-	rs200578702	byFrequency	TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr1:243251423delA	ENST00000417964.1	-	0	1346																											actccatctcaaaaaaaaaaa	0.458													|||unknown(NO_COVERAGE)	1468	0.293131	0.3033	0.3098	5008	,	,		13610	0.3333		0.2396	False		,,,				2504	0.2812					uc001hzq.1																			0													Homo sapiens cDNA FLJ52610 complete cds.																																						0							g.chr1:243251423delA																													1.37:g.243251423delA														8		-									RNA	DEL	ENST00000417964.1	37	c.1209delT																																																																																						0.458	RP11-261C10.3-006	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000096168.1			6	3	6	3	---	---	---	---
SPDYE7P	441251	broad.mit.edu	37	7	72333390	72333390	+	IGR	DEL	C	C	-			TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr7:72333390delC								RN7SL625P (21085 upstream) : POM121 (16545 downstream)																							AAGGACCCCACCCCCCTCCCC	0.493																																						uc010lal.1																			0					0								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																																				SO:0001628	intergenic_variant	441251							g.chr7:72333390delC																													7.37:g.72333390delC								NR_003666						1		-									RNA	DEL		37	c.6266delG																																																																																				0		0.493									38	36	38	36	---	---	---	---
Unknown	0	broad.mit.edu	37	13	19420047	19420053	+	IGR	DEL	TTCGTAT	TTCGTAT	-	rs9506853|rs377510750	byFrequency	TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr13:19420047_19420053delTTCGTAT								LINC00418 (126178 upstream) : RP11-38M15.11 (13913 downstream)																							ATAACATTTCTTCGTATTTTATATTTT	0.246																																						uc010tcj.1																			0					0								Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.																																				SO:0001628	intergenic_variant	284232							g.chr13:19420047_19420053delTTCGTAT																													13.37:g.19420047_19420053delTTCGTAT								NR_027995						1		-									RNA	DEL		37	c.26057_26063delATACGAA																																																																																				0		0.246									3	3	3	3	---	---	---	---
SF3A2	8175	broad.mit.edu	37	19	2248165	2248185	+	In_Frame_Del	DEL	CCAGCCCCCGGGGTTCACCCA	CCAGCCCCCGGGGTTCACCCA	-	rs144349304|rs138163109		TCGA-39-5029-01A-01D-1441-08	TCGA-39-5029-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa02c83c-7ef0-400d-bd8d-729dacda6352	69fd7f79-6e6c-44df-9734-543da03612a1	g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA	ENST00000221494.5	+	9	1433_1453	c.1015_1035delCCAGCCCCCGGGGTTCACCCA	c.(1015-1035)ccagcccccggggttcacccadel	p.PAPGVHP360del	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	360	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCACCCTCCAGCCCCCGGGGTTCACCCACCAGCCCCCG	0.742																																						uc002lvg.2																			0					0						c.(1015-1035)CCAGCCCCCGGGGTTCACCCAdel		splicing factor 3a, subunit 2				62,2436		14,34,1201						-6.4	0.0			3	497,5077		113,271,2403	no	coding	SF3A2	NM_007165.4		127,305,3604	A1A1,A1R,RR		8.9164,2.482,6.9252				559,7513				SO:0001651	inframe_deletion	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1015_1035delCCAGCCCCCGGGGTTCACCCA	19.37:g.2248165_2248185delCCAGCCCCCGGGGTTCACCCA	ENSP00000221494:p.Pro360_Pro366del					AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank	p.PAPGVHP360del	NM_007165	NP_009096	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1137_1157	+		Hepatocellular(1079;0.137)	360_366			Pro-rich.		B2RBU1|D6W605|O75245	In_Frame_Del	DEL	ENST00000221494.5	37	c.1015_1035delCCAGCCCCCGGGGTTCACCCA	CCDS12084.1																																																																																					0.742	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			3	4	3	4	---	---	---	---
