#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
PTCHD2	57540	broad.mit.edu	37	1	11596393	11596393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:11596393C>T	ENST00000294484.6	+	21	3967	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	PTCHD2_ENST00000389575.3_Nonsense_Mutation_p.Q1277*|PTCHD2_ENST00000304391.6_Missense_Mutation_p.A163V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1277					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.Q1494*(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGCCCGAACGCAGCGCCAGTG	0.706																																						uc001ash.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(3829-3831)CAG>TAG		patched domain containing 2							38.0	40.0	39.0					1																	11596393		2146	4218	6364	SO:0001587	stop_gained	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596393C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3829C>T	1.37:g.11596393C>T	ENSP00000294484:p.Gln1277*						p.Q1277*	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	3967	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1277			Extracellular (Potential).		Q5VTU9|Q9UJD6	Nonsense_Mutation	SNP	ENST00000294484.6	37	c.3829C>T	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.495410|9.495410	0.99187|0.99187	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|.	.|.	.|.	4.89|4.89	3.97|3.97	0.46021|0.46021	.|.	.|0.649355	.|0.14763	.|N	.|0.299868	T|.	0.27933|.	0.0688|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16748|.	-1.0392|.	5|.	0.87932|0.06236	D|T	0|0.91	-25.0063|-25.0063	5.1827|5.1827	0.15169|0.15169	0.0:0.7245:0.0:0.2755|0.0:0.7245:0.0:0.2755	.|.	.|.	.|.	.|.	V|X	163|1277	.|.	ENSP00000303400:A163V|ENSP00000294484:Q1277X	A|Q	+|+	2|1	0|0	PTCHD2|PTCHD2	11518980|11518980	0.991000|0.991000	0.36638|0.36638	0.981000|0.981000	0.43875|0.43875	0.747000|0.747000	0.42532|0.42532	1.940000|1.940000	0.40223|0.40223	2.256000|2.256000	0.74724|0.74724	0.655000|0.655000	0.94253|0.94253	GCA|CAG		PASS	0.706	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		9	34	9	34	---	---	---	---
PADI2	11240	broad.mit.edu	37	1	17422451	17422451	+	Missense_Mutation	SNP	C	C	G	rs185176493	byFrequency	TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:17422451C>G	ENST00000375486.4	-	4	427	c.364G>C	c.(364-366)Gtg>Ctg	p.V122L	PADI2_ENST00000375481.1_Missense_Mutation_p.V122L|PADI2_ENST00000444885.2_Missense_Mutation_p.V122L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	122					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.V122L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCTGCGTCCACATCCAGGGAG	0.607																																						uc001baf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(364-366)GTG>CTG		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						170.0	146.0	154.0					1																	17422451		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17422451C>G	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.364G>C	1.37:g.17422451C>G	ENSP00000364635:p.Val122Leu					PADI2_uc010ocm.1_Missense_Mutation_p.V122L|PADI2_uc001bag.1_Missense_Mutation_p.V122L	p.V122L	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	4	446	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	122					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.364G>C	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869583	0.91587	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.21031	2.03;2.37;2.03	6.08	6.08	0.98989	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	M	0.81802	2.56	0.28833	N	0.897038	D;P	0.64830	0.994;0.865	D;P	0.70716	0.97;0.719	T	0.48445	-0.9035	10	0.56958	D	0.05	-33.4338	19.2273	0.93822	0.0:1.0:0.0:0.0	.	122;122	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	L	122	ENSP00000364635:V122L;ENSP00000405894:V122L;ENSP00000364630:V122L	ENSP00000364630:V122L	V	-	1	0	PADI2	17295038	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.759000	0.68785	2.894000	0.99253	0.655000	0.94253	GTG		PASS	0.607	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			41	99	41	99	---	---	---	---
ACTL8	81569	broad.mit.edu	37	1	18152873	18152873	+	Silent	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:18152873C>G	ENST00000375406.1	+	3	1176	c.960C>G	c.(958-960)gtC>gtG	p.V320V		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	320					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V320V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GGGATCACGTCTCCTCCACCA	0.597											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(958-960)GTC>GTG		actin-like 8							75.0	81.0	79.0					1																	18152873		2203	4300	6503	SO:0001819	synonymous_variant	81569					cytoplasm|cytoskeleton		g.chr1:18152873C>G	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.960C>G	1.37:g.18152873C>G			OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.V320V	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	1176	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	320					Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	c.960C>G	CCDS183.1																																																																																				PASS	0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		5	89	5	89	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	20991137	20991137	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:20991137G>A	ENST00000247986.2	-	15	3340	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.I910I|KIF17_ENST00000400463.3_Silent_p.I1009I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	1010					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.I1010I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGTGAAAGGGATGTCGAGGG	0.587																																						uc001bdr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(3028-3030)ATC>ATT		kinesin family member 17 isoform a							99.0	101.0	100.0					1																	20991137		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:20991137G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.3030C>T	1.37:g.20991137G>A						KIF17_uc001bdp.3_Silent_p.I287I|KIF17_uc001bdq.3_Silent_p.I288I|KIF17_uc009vpx.2_Silent_p.I380I|KIF17_uc001bds.3_Silent_p.I1009I	p.I1010I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	15	3148	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	1010					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.3030C>T	CCDS213.1																																																																																				PASS	0.587	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		18	122	18	122	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36644891	36644891	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:36644891G>C	ENST00000373151.2	+	13	2375	c.2159G>C	c.(2158-2160)cGg>cCg	p.R720P	MAP7D1_ENST00000373148.4_Missense_Mutation_p.R257P|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R683P|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R688P	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	720					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.R720P(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AAGAGGACTCGGAAGTCAGAA	0.587																																						uc001bzz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(2158-2160)CGG>CCG		MAP7 domain containing 1							33.0	36.0	35.0					1																	36644891		2203	4300	6503	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36644891G>C	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.2159G>C	1.37:g.36644891G>C	ENSP00000362244:p.Arg720Pro					MAP7D1_uc001caa.2_Missense_Mutation_p.R688P|MAP7D1_uc001cab.2_Missense_Mutation_p.R683P|MAP7D1_uc001cac.2_Missense_Mutation_p.R420P|MAP7D1_uc001cad.2_Missense_Mutation_p.R257P	p.R720P	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			13	2375	+		Myeloproliferative disorder(586;0.0393)	720			Potential.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.2159G>C	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584279	0.65992	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373153;ENST00000373148	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.3	5.3	0.74995	.	0.000000	0.35838	N	0.002948	T	0.65719	0.2718	M	0.88512	2.96	0.53005	D	0.999961	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.999;0.999	D;D;D;D;D	0.71414	0.934;0.961;0.955;0.955;0.973	T	0.73020	-0.4114	10	0.87932	D	0	-16.9858	15.6646	0.77217	0.0:0.0:1.0:0.0	.	257;720;683;688;720	Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;.;.;MA7D1_HUMAN	P	683;688;720;44;257	ENSP00000320228:R683P;ENSP00000362243:R688P;ENSP00000362244:R720P;ENSP00000362241:R257P	ENSP00000320228:R683P	R	+	2	0	MAP7D1	36417478	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	6.632000	0.74281	2.481000	0.83766	0.514000	0.50259	CGG		PASS	0.587	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		14	25	14	25	---	---	---	---
NT5C1A	84618	broad.mit.edu	37	1	40124970	40124970	+	Silent	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:40124970A>T	ENST00000235628.1	-	6	929	c.930T>A	c.(928-930)gcT>gcA	p.A310A		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	310					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.A310A(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGGGCGCTCCAGCAAGGAACA	0.612																																						uc001cdq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(928-930)GCT>GCA		5'-nucleotidase, cytosolic IA							60.0	68.0	65.0					1																	40124970		2203	4300	6503	SO:0001819	synonymous_variant	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40124970A>T	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.930T>A	1.37:g.40124970A>T							p.A310A	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	930	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	310					Q3SYB9|Q5TG98|Q9BWT8	Silent	SNP	ENST00000235628.1	37	c.930T>A	CCDS440.1																																																																																				PASS	0.612	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		62	108	62	108	---	---	---	---
CCDC30	728621	broad.mit.edu	37	1	43103011	43103011	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:43103011G>C	ENST00000340612.4	+	10	1600	c.1600G>C	c.(1600-1602)Gaa>Caa	p.E534Q	CCDC30_ENST00000428554.2_Missense_Mutation_p.E534Q|CCDC30_ENST00000390640.4_Missense_Mutation_p.E323Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.E534Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.E323Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	534						extracellular vesicular exosome (GO:0070062)		p.E534Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TAACCAATTTGAAGATGAAAT	0.343																																						uc009vwk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1600-1602)GAA>CAA		coiled-coil domain containing 30							59.0	62.0	61.0					1																	43103011		2203	4298	6501	SO:0001583	missense	728621							g.chr1:43103011G>C	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1600G>C	1.37:g.43103011G>C	ENSP00000340378:p.Glu534Gln					CCDC30_uc001chm.2_Missense_Mutation_p.E232Q|CCDC30_uc001chn.2_Missense_Mutation_p.E323Q	p.E534Q	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			11	1710	+			534			Potential.		Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1600G>C	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396799	0.42512	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.15	5.15	0.70609	.	0.051351	0.85682	D	0.000000	T	0.60495	0.2273	M	0.61703	1.905	0.36319	D	0.858148	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.964	T	0.65475	-0.6159	10	0.44086	T	0.13	.	13.9985	0.64419	0.0:0.0:1.0:0.0	.	534;323	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	Q	534;323;534;534;323	ENSP00000397035:E534Q;ENSP00000426711:E323Q;ENSP00000340378:E534Q;ENSP00000339280:E534Q;ENSP00000375051:E323Q	ENSP00000340378:E534Q	E	+	1	0	CCDC30	42875598	1.000000	0.71417	0.963000	0.40424	0.030000	0.12068	4.874000	0.63064	2.689000	0.91719	0.555000	0.69702	GAA		PASS	0.343	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		7	27	7	27	---	---	---	---
AKR1A1	10327	broad.mit.edu	37	1	46027544	46027544	+	Silent	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:46027544T>C	ENST00000372070.3	+	3	825	c.78T>C	c.(76-78)ccT>ccC	p.P26P	AKR1A1_ENST00000351829.4_Silent_p.P26P|AKR1A1_ENST00000471651.1_Silent_p.P26P	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	26					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)	p.P26P(1)		lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	AGAGTGAGCCTGGTCAGGTGA	0.557																																						uc001cod.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(76-78)CCT>CCC		aldo-keto reductase family 1, member A1							108.0	108.0	108.0					1																	46027544		2203	4300	6503	SO:0001819	synonymous_variant	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46027544T>C	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.78T>C	1.37:g.46027544T>C						AKR1A1_uc009vxw.2_Silent_p.P26P|AKR1A1_uc001coe.2_Silent_p.P26P	p.P26P	NM_006066	NP_006057	P14550	AK1A1_HUMAN			3	542	+	Acute lymphoblastic leukemia(166;0.155)		26					A8KAL8|D3DQ04|Q6IAZ4	Silent	SNP	ENST00000372070.3	37	c.78T>C	CCDS523.1																																																																																				PASS	0.557	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		13	131	13	131	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46193388	46193388	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:46193388C>A	ENST00000396478.3	-	5	1065	c.963G>T	c.(961-963)caG>caT	p.Q321H		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	321						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.Q321H(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TGGTCCAGTACTGGCTAAAGG	0.478																																						uc001cou.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(961-963)CAG>CAT		intracisternal A particle-promoted polypeptide							174.0	163.0	167.0					1																	46193388		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46193388C>A	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.963G>T	1.37:g.46193388C>A	ENSP00000379739:p.Gln321His					IPP_uc001cos.3_Missense_Mutation_p.Q321H	p.Q321H	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			5	1230	-	Acute lymphoblastic leukemia(166;0.155)		321			Kelch 1.		A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.963G>T	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637875	0.47049	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.76968	-1.06;-1.06	5.86	2.98	0.34508	Galactose oxidase, beta-propeller (1);	0.172662	0.52532	D	0.000063	T	0.63920	0.2552	N	0.21282	0.65	0.49915	D	0.999839	B;B	0.24092	0.001;0.097	B;B	0.30316	0.014;0.114	T	0.57888	-0.7733	10	0.36615	T	0.2	.	9.0779	0.36534	0.0:0.6886:0.1158:0.1956	.	321;321	Q9Y573;A2A6V3	IPP_HUMAN;.	H	321	ENSP00000353024:Q321H;ENSP00000379739:Q321H	ENSP00000353024:Q321H	Q	-	3	2	IPP	45965975	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.232000	0.32636	0.946000	0.37632	-0.897000	0.02905	CAG		PASS	0.478	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		12	165	12	165	---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149905804	149905804	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:149905804T>C	ENST00000439741.2	-	8	965	c.715A>G	c.(715-717)Att>Gtt	p.I239V	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.I211V|MTMR11_ENST00000369140.3_Missense_Mutation_p.I167V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	239	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.I239V(1)|p.I167V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTGTCCAGAATTCGGTTAGGG	0.478																																						uc001etl.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(715-717)ATT>GTT		myotubularin related protein 11 isoform a							148.0	135.0	139.0					1																	149905804		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149905804T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.715A>G	1.37:g.149905804T>C	ENSP00000391668:p.Ile239Val					MTMR11_uc001etm.1_Missense_Mutation_p.I167V|MTMR11_uc010pbm.1_Missense_Mutation_p.I211V|MTMR11_uc010pbn.1_Missense_Mutation_p.I81V	p.I239V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		8	966	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		239			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.715A>G	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	7.680	0.688900	0.14973	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.93366	-3.21;-2.63;-3.21	5.29	2.92	0.33932	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.443104	0.24970	N	0.034146	T	0.66208	0.2766	N	0.04508	-0.205	0.24154	N	0.995684	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.60727	-0.7206	10	0.27082	T	0.32	.	5.0963	0.14735	0.0:0.0992:0.3576:0.5431	.	81;211;167;239	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	V	167;239;211;81	ENSP00000358136:I167V;ENSP00000391668:I239V;ENSP00000383948:I211V	ENSP00000358136:I167V	I	-	1	0	MTMR11	148172428	0.953000	0.32496	0.867000	0.34043	0.906000	0.53458	0.732000	0.26072	0.449000	0.26747	-0.313000	0.08912	ATT		PASS	0.478	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		34	147	34	147	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283961	152283961	+	Missense_Mutation	SNP	G	G	T	rs373814572		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:152283961G>T	ENST00000368799.1	-	3	3436	c.3401C>A	c.(3400-3402)aCc>aAc	p.T1134N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1134	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T1134N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGTCCTGGTCCGCCCATG	0.597									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3400-3402)ACC>AAC		filaggrin							158.0	195.0	182.0					1																	152283961		2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283961G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3401C>A	1.37:g.152283961G>T	ENSP00000357789:p.Thr1134Asn					uc001ezv.2_5'Flank	p.T1134N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3437	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1134			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3401C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.519	0.280643	0.10458	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	3.13	-1.47	0.08772	.	.	.	.	.	T	0.00524	0.0017	L	0.47716	1.5	0.09310	N	1	B	0.27625	0.183	B	0.21708	0.036	T	0.42292	-0.9460	9	0.19590	T	0.45	.	5.6969	0.17861	0.0:0.1785:0.2898:0.5317	.	1134	P20930	FILA_HUMAN	N	1134	ENSP00000357789:T1134N	ENSP00000357789:T1134N	T	-	2	0	FLG	150550585	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.998000	0.03701	-0.662000	0.05338	0.299000	0.19835	ACC		PASS	0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		126	300	126	300	---	---	---	---
ETV3L	440695	broad.mit.edu	37	1	157068514	157068514	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:157068514A>T	ENST00000454449.2	-	3	754	c.470T>A	c.(469-471)gTg>gAg	p.V157E		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	157					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V157E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTGCACACCCACGGGCACCAG	0.667																																						uc001fqq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(469-471)GTG>GAG		ets variant 3-like							30.0	34.0	32.0					1																	157068514		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068514A>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.470T>A	1.37:g.157068514A>T	ENSP00000430271:p.Val157Glu						p.V157E	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			3	755	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	157						Missense_Mutation	SNP	ENST00000454449.2	37	c.470T>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	A	7.519	0.656354	0.14580	.	.	ENSG00000253831	ENST00000454449	T	0.08193	3.12	4.47	3.34	0.38264	.	.	.	.	.	T	0.00936	0.0031	N	0.19112	0.55	0.22827	N	0.998688	B	0.31730	0.337	B	0.23419	0.046	T	0.44982	-0.9292	9	0.02654	T	1	.	3.8986	0.09150	0.6247:0.1847:0.1906:0.0	.	157	Q6ZN32	ETV3L_HUMAN	E	157	ENSP00000430271:V157E	ENSP00000430271:V157E	V	-	2	0	ETV3L	155335138	0.002000	0.14202	0.957000	0.39632	0.117000	0.20001	0.894000	0.28350	0.847000	0.35167	0.533000	0.62120	GTG		PASS	0.667	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		4	58	4	58	---	---	---	---
KCNJ9	3765	broad.mit.edu	37	1	160054077	160054077	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:160054077G>T	ENST00000368088.3	+	2	499	c.257G>T	c.(256-258)cGc>cTc	p.R86L		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	86					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.R86L(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTACGGCCGCGGCGACCTG	0.657																																						uc001fuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(256-258)CGC>CTC		potassium inwardly-rectifying channel subfamily							40.0	35.0	37.0					1																	160054077		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054077G>T	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.257G>T	1.37:g.160054077G>T	ENSP00000357067:p.Arg86Leu						p.R86L	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	499	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		86			Extracellular (By similarity).		Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.257G>T	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138046	0.94560	.	.	ENSG00000162728	ENST00000368088	D	0.94376	-3.41	4.71	4.71	0.59529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96939	0.9686	10	0.87932	D	0	.	16.4326	0.83859	0.0:0.0:1.0:0.0	.	86	Q92806	IRK9_HUMAN	L	86	ENSP00000357067:R86L	ENSP00000357067:R86L	R	+	2	0	KCNJ9	158320701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.640000	0.98453	2.151000	0.67156	0.430000	0.28490	CGC		PASS	0.657	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		16	20	16	20	---	---	---	---
CD84	8832	broad.mit.edu	37	1	160523900	160523900	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:160523900A>T	ENST00000311224.4	-	3	491	c.425T>A	c.(424-426)aTg>aAg	p.M142K	CD84_ENST00000368051.3_Missense_Mutation_p.M142K|CD84_ENST00000368048.3_Missense_Mutation_p.M142K|CD84_ENST00000534968.1_Missense_Mutation_p.M28K|CD84_ENST00000368054.3_Missense_Mutation_p.M142K|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	142	Ig-like C2-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.M142K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CACAGATGCCATTAAACTCTG	0.473																																						uc001fwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(424-426)ATG>AAG		CD84 molecule							101.0	91.0	95.0					1																	160523900		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523900A>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.425T>A	1.37:g.160523900A>T	ENSP00000312367:p.Met142Lys					CD84_uc001fwf.3_Missense_Mutation_p.M142K|CD84_uc001fwg.3_Missense_Mutation_p.M142K|CD84_uc009wtn.2_Missense_Mutation_p.M142K|CD84_uc001fwi.3_Missense_Mutation_p.M28K|CD84_uc001fwj.2_Missense_Mutation_p.M142K|CD84_uc001fwk.2_Missense_Mutation_p.M142K	p.M142K	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	449	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		142			Extracellular (Potential).|Ig-like C2-type.		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.425T>A	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	A	0.039	-1.293482	0.01375	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T;T	0.02737	4.18;4.18;4.18;4.18;4.18;4.18;4.18	5.33	0.44	0.16572	Immunoglobulin-like (1);	0.663946	0.16877	N	0.195857	T	0.00384	0.0012	N	0.15975	0.35	0.09310	N	1	B;P;B;B;B;B;B	0.42692	0.045;0.787;0.045;0.435;0.032;0.027;0.027	B;B;B;B;B;B;B	0.38327	0.012;0.271;0.02;0.154;0.053;0.02;0.012	T	0.30679	-0.9970	10	0.05436	T	0.98	-12.753	3.4942	0.07649	0.58:0.0:0.2609:0.1591	.	142;142;142;28;142;142;142	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;.;SLAF5_HUMAN;.;.	K	28;142;142;142;142;142;142	ENSP00000442845:M28K;ENSP00000357033:M142K;ENSP00000357027:M142K;ENSP00000312367:M142K;ENSP00000357030:M142K;ENSP00000353163:M142K;ENSP00000357026:M142K	ENSP00000312367:M142K	M	-	2	0	CD84	158790524	0.001000	0.12720	0.000000	0.03702	0.598000	0.36846	0.997000	0.29731	-0.079000	0.12707	-0.376000	0.06991	ATG		PASS	0.473	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		25	49	25	49	---	---	---	---
DARS2	55157	broad.mit.edu	37	1	173806089	173806089	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:173806089G>C	ENST00000361951.4	+	8	1402	c.675G>C	c.(673-675)gaG>gaC	p.E225D	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	225					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.E225D(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GTGCCAAAGAGTTTTTAGTAC	0.383																																						uc001gjh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(673-675)GAG>GAC		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						142.0	162.0	155.0					1																	173806089		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173806089G>C	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.675G>C	1.37:g.173806089G>C	ENSP00000355086:p.Glu225Asp						p.E225D	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			8	1085	+			225						Missense_Mutation	SNP	ENST00000361951.4	37	c.675G>C	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816206	0.70912	.	.	ENSG00000117593	ENST00000361951	T	0.77877	-1.13	5.42	-0.368	0.12537	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	N	0.25825	0.765	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.63703	-0.6577	10	0.02654	T	1	-18.2792	8.8726	0.35325	0.5502:0.0:0.4498:0.0	.	225	Q6PI48	SYDM_HUMAN	D	225	ENSP00000355086:E225D	ENSP00000355086:E225D	E	+	3	2	DARS2	172072712	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	1.507000	0.35758	0.028000	0.15324	-0.136000	0.14681	GAG		PASS	0.383	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		11	204	11	204	---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	176133017	176133017	+	Silent	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:176133017G>T	ENST00000367669.3	-	4	1090	c.576C>A	c.(574-576)ctC>ctA	p.L192L	RFWD2_ENST00000308769.8_Silent_p.L192L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	192					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.L192L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTAAGAATGAGTTCATTCA	0.284																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(574-576)CTC>CTA		ring finger and WD repeat domain 2 isoform a							43.0	42.0	42.0					1																	176133017		2203	4296	6499	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176133017G>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.576C>A	1.37:g.176133017G>T						RFWD2_uc001gkv.1_Silent_p.L192L|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Silent_p.L51L	p.L192L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			4	832	-			192					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.576C>A	CCDS30944.1																																																																																				PASS	0.284	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		6	9	6	9	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197072580	197072580	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:197072580C>A	ENST00000367409.4	-	18	6057	c.5801G>T	c.(5800-5802)tGg>tTg	p.W1934L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1934					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.W1934L(1)|p.W1934S(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCCTGCAGTCCATGCTCTGAA	0.428																																						uc001gtu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(5800-5802)TGG>TTG		asp (abnormal spindle)-like, microcephaly							193.0	192.0	192.0					1																	197072580		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072580C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5801G>T	1.37:g.197072580C>A	ENSP00000356379:p.Trp1934Leu					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.W1934L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6058	-			1934					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5801G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	3.569	-0.088000	0.07097	.	.	ENSG00000066279	ENST00000367409	T	0.70986	-0.53	5.51	3.24	0.37175	.	1.192850	0.05837	N	0.618640	T	0.60340	0.2261	L	0.49640	1.575	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.45659	-0.9246	10	0.09843	T	0.71	.	3.8952	0.09136	0.2536:0.5076:0.1245:0.1143	.	1934	Q8IZT6	ASPM_HUMAN	L	1934	ENSP00000356379:W1934L	ENSP00000356379:W1934L	W	-	2	0	ASPM	195339203	0.000000	0.05858	0.004000	0.12327	0.044000	0.14063	0.000000	0.12993	1.272000	0.44329	0.650000	0.86243	TGG		PASS	0.428	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		40	159	40	159	---	---	---	---
MYOG	4656	broad.mit.edu	37	1	203054778	203054778	+	Silent	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:203054778C>T	ENST00000241651.4	-	1	386	c.312G>A	c.(310-312)ctG>ctA	p.L104L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|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 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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L104L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TGCTTCTCTTCAGGGCCTCGA	0.637																																						uc001gzd.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(310-312)CTG>CTA		myogenin							76.0	79.0	78.0					1																	203054778		2203	4300	6503	SO:0001819	synonymous_variant	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054778C>T	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.312G>A	1.37:g.203054778C>T							p.L104L	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	600	-			104			Helix-loop-helix motif.		Q53XW6	Silent	SNP	ENST00000241651.4	37	c.312G>A	CCDS1433.1																																																																																				PASS	0.637	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		27	86	27	86	---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213415152	213415152	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:213415152T>C	ENST00000366960.3	+	11	2483	c.2333T>C	c.(2332-2334)gTa>gCa	p.V778A	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V566A|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.V481A|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V766A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	778					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.V778A(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATGTTATTTGTAGCAGCTGTT	0.448																																						uc010ptr.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)	8						c.(2332-2334)GTA>GCA		ribosomal protein S6 kinase, 52kDa, polypeptide							140.0	134.0	136.0					1																	213415152		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415152T>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2333T>C	1.37:g.213415152T>C	ENSP00000355927:p.Val778Ala					RPS6KC1_uc001hkd.2_Missense_Mutation_p.V766A|RPS6KC1_uc010pts.1_Missense_Mutation_p.V566A|RPS6KC1_uc010ptt.1_Missense_Mutation_p.V566A|RPS6KC1_uc010ptu.1_Missense_Mutation_p.V597A|RPS6KC1_uc010ptv.1_Missense_Mutation_p.V313A|RPS6KC1_uc001hke.2_Missense_Mutation_p.V597A	p.V778A	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2492	+			778					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2333T>C	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	T	4.891	0.165591	0.09339	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.38560	1.54;1.56;1.56;1.13	5.62	-1.95	0.07548	.	1.463310	0.03786	N	0.262080	T	0.23572	0.0570	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.08953	-1.0697	10	0.12430	T	0.62	-46.1676	2.81	0.05439	0.1233:0.3927:0.1264:0.3576	.	566;778;766	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	A	566;778;766;481	ENSP00000442306:V566A;ENSP00000355927:V778A;ENSP00000355926:V766A;ENSP00000439282:V481A	ENSP00000355926:V766A	V	+	2	0	RPS6KC1	211481775	0.000000	0.05858	0.001000	0.08648	0.887000	0.51463	-0.095000	0.11077	-0.034000	0.13713	0.528000	0.53228	GTA		PASS	0.448	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		30	114	30	114	---	---	---	---
GPR137B	7107	broad.mit.edu	37	1	236347124	236347124	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:236347124G>C	ENST00000366592.3	+	5	975	c.884G>C	c.(883-885)gGa>gCa	p.G295A	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	295						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)		p.G295A(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GTATTATTTGGAGTGGTGTTA	0.393																																						uc001hxq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)GGA>GCA		G protein-coupled receptor 137B							166.0	159.0	161.0					1																	236347124		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236347124G>C	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.884G>C	1.37:g.236347124G>C	ENSP00000355551:p.Gly295Ala					GPR137B_uc001hxr.1_Missense_Mutation_p.G77A|GPR137B_uc009xge.2_RNA	p.G295A	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		5	975	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	295			Helical; (Potential).		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.884G>C	CCDS1609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.524283|4.524283	0.85600|0.85600	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000454895|ENST00000366592;ENST00000391852;ENST00000419162	.|T;T	.|0.54279	.|0.58;0.63	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.049594	.|0.85682	.|D	.|0.000000	T|T	0.76212|0.76212	0.3956|0.3956	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.78178|0.78178	-0.2305|-0.2305	5|10	.|0.54805	.|T	.|0.06	-8.6471|-8.6471	19.3356|19.3356	0.94316|0.94316	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158;295	.|Q5TAF1;O60478	.|.;G137B_HUMAN	Q|A	159|295;294;77	.|ENSP00000355551:G295A;ENSP00000401841:G77A	.|ENSP00000355551:G295A	E|G	+|+	1|2	0|0	GPR137B|GPR137B	234413747|234413747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	9.291000|9.291000	0.96070|0.96070	2.578000|2.578000	0.87016|0.87016	0.650000|0.650000	0.86243|0.86243	GAG|GGA		PASS	0.393	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		12	36	12	36	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237780584	237780584	+	Splice_Site	SNP	A	A	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:237780584A>C	ENST00000366574.2	+	38	6032		c.e38-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGTCTCTTAGATGTGCCTA	0.398																																						uc001hyl.1																			1	Unknown(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e38-2		cardiac muscle ryanodine receptor							35.0	30.0	32.0					1																	237780584		1859	4109	5968	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780584A>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5716-1A>C	1.37:g.237780584A>C							p.M1906_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	5836	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.5716_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100256	0.76983	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4156	0.74966	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235847207	1.000000	0.71417	0.990000	0.47175	0.828000	0.46876	9.287000	0.95975	2.036000	0.60181	0.528000	0.53228	.		PASS	0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	3	12	3	12	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248084490	248084490	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:248084490G>T	ENST00000319968.4	+	1	171	c.171G>T	c.(169-171)atG>atT	p.M57I		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M57I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACACGCCCATGTACTTCCTCC	0.522																																						uc010pzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)ATG>ATT		olfactory receptor, family 2, subfamily T,							72.0	68.0	69.0					1																	248084490		2203	4299	6502	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084490G>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.171G>T	1.37:g.248084490G>T	ENSP00000326225:p.Met57Ile						p.M57I	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	171	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	57			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.171G>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	g	18.66	3.672717	0.67928	.	.	ENSG00000177462	ENST00000319968	T	0.09350	2.99	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.41971	0.1182	H	0.97131	3.945	0.44330	D	0.997215	D	0.55172	0.97	P	0.57960	0.83	T	0.64296	-0.6441	10	0.87932	D	0	.	14.6121	0.68522	0.0:0.0:1.0:0.0	.	57	A6NH00	OR2T8_HUMAN	I	57	ENSP00000326225:M57I	ENSP00000326225:M57I	M	+	3	0	OR2T8	246151113	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	7.798000	0.85924	1.954000	0.56735	0.603000	0.83216	ATG		PASS	0.522	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		9	157	9	157	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458710	248458710	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:248458710C>A	ENST00000317996.1	-	1	170	c.171G>T	c.(169-171)atG>atT	p.M57I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M57I(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGAGGAAGTACATGGGCCTGT	0.527																																						uc010pzj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(169-171)ATG>ATT		olfactory receptor, family 2, subfamily T,							71.0	56.0	61.0					1																	248458710		2203	4297	6500	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458710C>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.171G>T	1.37:g.248458710C>A	ENSP00000324583:p.Met57Ile						p.M57I	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	171	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		57			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.171G>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	17.14	3.314398	0.60524	.	.	ENSG00000177201	ENST00000317996	T	0.09350	2.99	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.41213	0.1149	H	0.98646	4.29	0.39088	D	0.961047	D	0.55172	0.97	P	0.57960	0.83	T	0.61574	-0.7035	10	0.87932	D	0	.	10.5912	0.45310	0.0:1.0:0.0:0.0	.	57	Q8NG77	O2T12_HUMAN	I	57	ENSP00000324583:M57I	ENSP00000324583:M57I	M	-	3	0	OR2T12	246525333	1.000000	0.71417	0.306000	0.25113	0.282000	0.26991	2.170000	0.42443	0.645000	0.30675	0.175000	0.17021	ATG		PASS	0.527	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		9	46	9	46	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25467480	25467480	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:25467480G>A	ENST00000264709.3	-	14	1933	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	DNMT3A_ENST00000380746.4_Silent_p.G343G|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Silent_p.G309G|DNMT3A_ENST00000321117.5_Silent_p.G532G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	532	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.		G -> S (in TBRS; somatic mutation). {ECO:0000269|PubMed:24614070}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.G343G(1)|p.G532G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGACTGGTAGCCGTCGTCGT	0.607			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1594-1596)GGC>GGT		DNA cytosine methyltransferase 3 alpha isoform							120.0	104.0	109.0					2																	25467480		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467480G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1596C>T	2.37:g.25467480G>A						DNMT3A_uc002rgd.2_Silent_p.G532G|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.G343G	p.G532G	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			14	1853	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		532			Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1596C>T	CCDS33157.1																																																																																				PASS	0.607	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		25	61	25	61	---	---	---	---
ALK	238	broad.mit.edu	37	2	29456502	29456502	+	Missense_Mutation	SNP	G	G	C	rs80227749	byFrequency	TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:29456502G>C	ENST00000389048.3	-	14	3322	c.2416C>G	c.(2416-2418)Cgt>Ggt	p.R806G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	806					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R806G(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CTGTTCACACGGATTTCTTCT	0.483			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2416-2418)CGT>GGT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						195.0	175.0	182.0					2																	29456502		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29456502G>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2416C>G	2.37:g.29456502G>C	ENSP00000373700:p.Arg806Gly						p.R806G	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			14	3323	-	Acute lymphoblastic leukemia(172;0.155)		806			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2416C>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239937	0.58995	.	.	ENSG00000171094	ENST00000389048	T	0.42513	0.97	5.29	5.29	0.74685	.	0.159151	0.29806	N	0.011151	T	0.34571	0.0902	N	0.17379	0.485	0.80722	D	1	P	0.41450	0.75	P	0.45971	0.499	T	0.07635	-1.0762	9	.	.	.	.	14.6581	0.68850	0.0:0.0:0.8541:0.1459	.	806	Q9UM73	ALK_HUMAN	G	806	ENSP00000373700:R806G	.	R	-	1	0	ALK	29310006	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	3.150000	0.50662	2.478000	0.83669	0.561000	0.74099	CGT		PASS	0.483	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		33	96	33	96	---	---	---	---
SIX2	10736	broad.mit.edu	37	2	45235864	45235864	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:45235864T>C	ENST00000303077.6	-	1	705	c.386A>G	c.(385-387)tAc>tGc	p.Y129C		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	129					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y129C(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTGAAGCAGTAGCTGGTCTC	0.682																																						uc002ruo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(385-387)TAC>TGC		SIX homeobox 2							49.0	53.0	52.0					2																	45235864		2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45235864T>C	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.386A>G	2.37:g.45235864T>C	ENSP00000304502:p.Tyr129Cys					SIX2_uc002rup.2_Missense_Mutation_p.Y129C	p.Y129C	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			1	679	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	129			Homeobox.		Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.386A>G	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430923	0.83776	.	.	ENSG00000170577	ENST00000303077	D	0.91894	-2.93	5.03	5.03	0.67393	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97404	0.9998	10	0.87932	D	0	-33.0767	14.4244	0.67204	0.0:0.0:0.0:1.0	.	129;129	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	C	129	ENSP00000304502:Y129C	ENSP00000304502:Y129C	Y	-	2	0	SIX2	45089368	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.040000	0.89188	1.888000	0.54679	0.379000	0.24179	TAC		PASS	0.682	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			22	41	22	41	---	---	---	---
SNRNP27	11017	broad.mit.edu	37	2	70123625	70123625	+	Silent	SNP	A	A	G	rs374825779		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:70123625A>G	ENST00000244227.3	+	3	638	c.213A>G	c.(211-213)agA>agG	p.R71R	SNRNP27_ENST00000409116.1_Silent_p.R71R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	71	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.R71R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						aagaaagaagagatgaggaaa	0.348																																						uc002sfw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)AGA>AGG		small nuclear ribonucleoprotein 27kDa							74.0	75.0	75.0					2																	70123625		2202	4300	6502	SO:0001819	synonymous_variant	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70123625A>G	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.213A>G	2.37:g.70123625A>G						SNRNP27_uc002sfv.2_RNA|SNRNP27_uc002sfx.2_Silent_p.R71R	p.R71R	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN			3	240	+			71			Arg-rich.		Q15410	Silent	SNP	ENST00000244227.3	37	c.213A>G	CCDS33219.1																																																																																				PASS	0.348	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		14	39	14	39	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	79971515	79971515	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:79971515G>A	ENST00000402739.4	+	2	110	c.105G>A	c.(103-105)gtG>gtA	p.V35V	CTNNA2_ENST00000496558.1_Silent_p.V35V|CTNNA2_ENST00000541047.1_Silent_p.V35V|CTNNA2_ENST00000540488.1_Silent_p.V35V|CTNNA2_ENST00000361291.4_Silent_p.V69V|CTNNA2_ENST00000466387.1_Silent_p.V35V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	35					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.V35V(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TATTTAAGGTGACTACACTTG	0.368																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(103-105)GTG>GTA		catenin, alpha 2 isoform 1							48.0	46.0	47.0					2																	79971515		1828	4092	5920	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971515G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.105G>A	2.37:g.79971515G>A						CTNNA2_uc010yse.1_Silent_p.V35V|CTNNA2_uc010ysf.1_Silent_p.V35V|CTNNA2_uc010ysg.1_Silent_p.V35V	p.V35V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	110	+			35					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.105G>A																																																																																					PASS	0.368	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		9	36	9	36	---	---	---	---
IGKV3-11	28914	broad.mit.edu	37	2	89326681	89326681	+	RNA	SNP	C	C	A	rs185920904	byFrequency	TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:89326681C>A	ENST00000483158.1	-	0	378									immunoglobulin kappa variable 3-11																		CCAGTTGCTACGCTGCTGACA	0.473																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							102.0	94.0	97.0					2																	89326681		1879	4102	5981			0							g.chr2:89326681C>A	X01668		2p11.2	2012-02-08			ENSG00000241351	ENSG00000241351		"""Immunoglobulins / IGK locus"""	5815	other	immunoglobulin gene							Standard	NG_000834		Approved		uc021vkj.1		OTTHUMG00000151633		2.37:g.89326681C>A						uc002stl.2_Intron								68		-									RNA	SNP	ENST00000483158.1	37	c.6497G>T																																																																																					PASS	0.473	IGKV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323357.1	NG_000834		42	64	42	64	---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103321024	103321024	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:103321024A>T	ENST00000233969.2	+	10	2009	c.1867A>T	c.(1867-1869)Agt>Tgt	p.S623C		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	623					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.S623C(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAACAGACACAGTCTGACAGC	0.423																																						uc002tca.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(1867-1869)AGT>TGT		solute carrier family 9 (sodium/hydrogen							80.0	75.0	77.0					2																	103321024		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103321024A>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1867A>T	2.37:g.103321024A>T	ENSP00000233969:p.Ser623Cys						p.S623C	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			10	2009	+			623			Cytoplasmic (Potential).		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1867A>T	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547541	0.65311	.	.	ENSG00000115616	ENST00000233969	T	0.56611	0.45	5.25	5.25	0.73442	.	0.384691	0.32041	N	0.006678	T	0.51702	0.1690	L	0.46157	1.445	0.31031	N	0.717405	P	0.40875	0.731	B	0.42522	0.39	T	0.62186	-0.6907	10	0.59425	D	0.04	.	15.4496	0.75262	1.0:0.0:0.0:0.0	.	623	Q9UBY0	SL9A2_HUMAN	C	623	ENSP00000233969:S623C	ENSP00000233969:S623C	S	+	1	0	SLC9A2	102687456	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	4.477000	0.60223	2.097000	0.63578	0.533000	0.62120	AGT		PASS	0.423	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			17	41	17	41	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119739940	119739940	+	Silent	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:119739940C>A	ENST00000327097.4	+	12	1152	c.1017C>A	c.(1015-1017)ccC>ccA	p.P339P	MARCO_ENST00000541757.1_Silent_p.P261P	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	339	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.P339P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGGGAGCCCCGGGAGTCCAG	0.587																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1015-1017)CCC>CCA		macrophage receptor with collagenous structure							133.0	151.0	145.0					2																	119739940		2203	4300	6503	SO:0001819	synonymous_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119739940C>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1017C>A	2.37:g.119739940C>A						MARCO_uc010yyf.1_Silent_p.P261P	p.P339P	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			12	1149	+			339			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	c.1017C>A	CCDS2124.1																																																																																				PASS	0.587	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		38	127	38	127	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133887640	133887640	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:133887640C>T	ENST00000409261.1	-	6	624	c.251G>A	c.(250-252)cGt>cAt	p.R84H	NCKAP5_ENST00000405974.3_Missense_Mutation_p.R84H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R84H|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R84H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	84								p.R84H(1)|p.R84P(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTTTGAAGACGTAAGTGTCT	0.438																																						uc002ttp.2																			2	Substitution - Missense(2)		lung(1)|breast(1)		0						c.(250-252)CGT>CAT		Nck-associated protein 5 isoform 1							93.0	87.0	89.0					2																	133887640		1927	4137	6064	SO:0001583	missense	344148						protein binding	g.chr2:133887640C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.251G>A	2.37:g.133887640C>T	ENSP00000387128:p.Arg84His					NCKAP5_uc002ttq.2_Missense_Mutation_p.R84H|NCKAP5_uc002ttt.1_Missense_Mutation_p.R84H|NCKAP5_uc002tts.1_Missense_Mutation_p.R59H	p.R84H	NM_207363	NP_997246	O14513	NCKP5_HUMAN			6	625	-			84			Potential.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.251G>A	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.856567|4.856567	0.91355|0.91355	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.68765|.	1.6;-0.35;1.6;-0.35|.	6.17|6.17	5.29|5.29	0.74685|0.74685	.|.	.|.	.|.	.|.	.|.	T|T	0.36744|0.36744	0.0978|0.0978	L|L	0.27053|0.27053	0.805|0.805	0.28610|0.28610	N|N	0.90871|0.90871	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.71414|.	0.934;0.919;0.942;0.973|.	T|T	0.27400|0.27400	-1.0075|-1.0075	9|5	0.87932|.	D|.	0|.	.|.	12.9159|12.9159	0.58205|0.58205	0.1623:0.8377:0.0:0.0|0.1623:0.8377:0.0:0.0	.|.	84;59;84;84|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	H|I	84;84;84;84;84;59|80	ENSP00000387128:R84H;ENSP00000386952:R84H;ENSP00000380603:R84H;ENSP00000385692:R84H|.	ENSP00000380603:R84H|.	R|V	-|-	2|1	0|0	NCKAP5|NCKAP5	133604110|133604110	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	6.261000|6.261000	0.72509|0.72509	1.601000|1.601000	0.50113|0.50113	0.655000|0.655000	0.94253|0.94253	CGT|GTC		PASS	0.438	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		6	14	6	14	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141081545	141081545	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:141081545C>G	ENST00000389484.3	-	81	13402	c.12431G>C	c.(12430-12432)gGc>gCc	p.G4144A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4144					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.G4144A(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)		TGAACCATGGCCAAATTTTTG	0.289										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.(12430-12432)GGC>GCC		low density lipoprotein-related protein 1B							68.0	76.0	73.0					2																	141081545		2203	4287	6490	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081545C>G	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.12431G>C	2.37:g.141081545C>G	ENSP00000374135:p.Gly4144Ala	TSP Lung(27;0.18)					p.G4144A	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)	81	13403	-		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)	4144			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12431G>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.396528|4.396528	0.83011|0.83011	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.91577	.|-2.87	5.37|5.37	4.49|4.49	0.54785|0.54785	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.223020	.|0.37136	.|N	.|0.002227	D|D	0.91543|0.91543	0.7329|0.7329	M|M	0.66506|0.66506	2.035|2.035	0.46437|0.46437	D|D	0.999044|0.999044	.|P	.|0.52316	.|0.952	.|P	.|0.49332	.|0.607	D|D	0.91810|0.91810	0.5459|0.5459	5|10	.|0.56958	.|D	.|0.05	.|.	14.3944|14.3944	0.67001|0.67001	0.0:0.9286:0.0:0.0714|0.0:0.9286:0.0:0.0714	.|.	.|4144	.|Q9NZR2	.|LRP1B_HUMAN	P|A	376|4144;4082	.|ENSP00000374135:G4144A	.|ENSP00000374135:G4144A	A|G	-|-	1|2	0|0	LRP1B|LRP1B	140798015|140798015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.427000|7.427000	0.80284|0.80284	1.407000|1.407000	0.46875|0.46875	-0.140000|-0.140000	0.14226|0.14226	GCC|GGC		PASS	0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	32	6	32	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106733	168106733	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:168106733T>C	ENST00000409195.1	+	9	8920	c.8831T>C	c.(8830-8832)aTa>aCa	p.I2944T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I2944T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2722T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2769					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.I2944T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCTTAAATATAGTGGAATTC	0.368																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8830-8832)ATA>ACA		xin actin-binding repeat containing 2 isoform 1							90.0	88.0	88.0					2																	168106733		1830	4081	5911	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106733T>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8831T>C	2.37:g.168106733T>C	ENSP00000386840:p.Ile2944Thr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2769T|XIRP2_uc010fpq.2_Missense_Mutation_p.I2722T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.I290T	p.I2944T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8849	+			2769			Potential.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8831T>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.422178	0.25639	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.04275	3.67;3.67;3.66	6.02	6.02	0.97574	.	0.239396	0.41396	D	0.000884	T	0.08447	0.0210	M	0.62723	1.935	0.33969	D	0.646588	B;B;B	0.19583	0.022;0.037;0.037	B;B;B	0.18561	0.01;0.022;0.022	T	0.05716	-1.0868	10	0.34782	T	0.22	-13.0554	15.5272	0.75919	0.0:0.0:0.0:1.0	.	2769;2769;2722	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	2944;2944;2722;358	ENSP00000386840:I2944T;ENSP00000295237:I2944T;ENSP00000387255:I2722T	ENSP00000295237:I2944T	I	+	2	0	XIRP2	167814979	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	3.163000	0.50763	2.311000	0.77944	0.533000	0.62120	ATA		PASS	0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		28	79	28	79	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106746	168106746	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:168106746G>C	ENST00000409195.1	+	9	8933	c.8844G>C	c.(8842-8844)ttG>ttC	p.L2948F	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2948F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2726F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2773					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L2948F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGAATTCTTGAGAAAACGTG	0.363																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8842-8844)TTG>TTC		xin actin-binding repeat containing 2 isoform 1							91.0	89.0	90.0					2																	168106746		1831	4082	5913	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106746G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8844G>C	2.37:g.168106746G>C	ENSP00000386840:p.Leu2948Phe					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L2773F|XIRP2_uc010fpq.2_Missense_Mutation_p.L2726F|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.L294F	p.L2948F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8862	+			2773			Potential.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8844G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378728	0.61735	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.04970	3.53;3.53;3.52	6.02	5.14	0.70334	.	0.744172	0.12550	N	0.459117	T	0.17365	0.0417	M	0.66939	2.045	0.38798	D	0.955133	D;D;D	0.56746	0.961;0.977;0.977	P;P;P	0.56648	0.64;0.803;0.803	T	0.00206	-1.1920	10	0.52906	T	0.07	-0.9672	10.1539	0.42812	0.0736:0.1358:0.7906:0.0	.	2773;2773;2726	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2948;2948;2726;362	ENSP00000386840:L2948F;ENSP00000295237:L2948F;ENSP00000387255:L2726F	ENSP00000295237:L2948F	L	+	3	2	XIRP2	167814992	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	0.536000	0.23129	2.865000	0.98341	0.655000	0.94253	TTG		PASS	0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		27	86	27	86	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168108097	168108097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:168108097G>T	ENST00000409195.1	+	9	10284	c.10195G>T	c.(10195-10197)Gaa>Taa	p.E3399*	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E3399*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E3177*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3224					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E3399*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAACTGCGAGAAAAGATTCC	0.398																																						uc002udx.2																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(10195-10197)GAA>TAA		xin actin-binding repeat containing 2 isoform 1							108.0	108.0	108.0					2																	168108097		1834	4087	5921	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108097G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10195G>T	2.37:g.168108097G>T	ENSP00000386840:p.Glu3399*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E3224*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E3177*|XIRP2_uc010fpr.2_Intron	p.E3399*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10213	+			3224					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.10195G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	50	16.158399	0.99856	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	.	.	.	5.85	4.79	0.61399	.	0.442206	0.23773	N	0.044713	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-12.8016	10.5171	0.44896	0.0843:0.1408:0.7748:0.0	.	.	.	.	X	3399;3399;3177;813	.	ENSP00000295237:E3399X	E	+	1	0	XIRP2	167816343	0.863000	0.29885	0.436000	0.26797	0.056000	0.15407	1.447000	0.35101	2.753000	0.94483	0.585000	0.79938	GAA		PASS	0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		40	75	40	75	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189950500	189950500	+	Splice_Site	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:189950500T>C	ENST00000374866.3	-	10	965		c.e10-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGCACCACCCTACAGTTGAAA	0.413																																						uc002uqk.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e10-1		alpha 2 type V collagen preproprotein							75.0	72.0	73.0					2																	189950500		2203	4300	6503	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189950500T>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.691-2A>G	2.37:g.189950500T>C						COL5A2_uc010frx.2_Splice_Site	p.G231_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		10	966	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37	c.691_splice	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897261	0.52121	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0175	0.64533	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189658745	1.000000	0.71417	0.999000	0.59377	0.427000	0.31564	4.272000	0.58908	2.291000	0.77112	0.533000	0.62120	.		PASS	0.413	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	5	40	5	40	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220161727	220161727	+	Missense_Mutation	SNP	C	C	A	rs369186246		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:220161727C>A	ENST00000295718.2	-	15	2456	c.2216G>T	c.(2215-2217)cGg>cTg	p.R739L	PTPRN_ENST00000423636.2_Missense_Mutation_p.R649L|AC114803.3_ENST00000417355.1_RNA|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.R710L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	739	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R739L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTCAGGATGCCGGTTCTTTTT	0.647																																						uc002vkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2215-2217)CGG>CTG		protein tyrosine phosphatase, receptor type, N							128.0	135.0	132.0					2																	220161727		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161727C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2216G>T	2.37:g.220161727C>A	ENSP00000295718:p.Arg739Leu					PTPRN_uc010zlc.1_Missense_Mutation_p.R649L|PTPRN_uc002vla.2_Missense_Mutation_p.R710L|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.R739L	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	15	2305	-		Renal(207;0.0474)	739			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.2216G>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532882	0.85812	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	D;D;D	0.90788	-2.73;-2.73;-2.73	4.31	4.31	0.51392	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000002	D	0.97508	0.9184	H	0.99325	4.515	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.99552	1.0966	10	0.87932	D	0	.	16.5918	0.84767	0.0:1.0:0.0:0.0	.	710;739	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	710;739;710;649	ENSP00000386638:R710L;ENSP00000295718:R739L;ENSP00000444244:R649L	ENSP00000295718:R739L	R	-	2	0	PTPRN	219869971	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.233000	0.78125	2.224000	0.72417	0.462000	0.41574	CGG		PASS	0.647	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			46	108	46	108	---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220406629	220406629	+	Silent	SNP	A	A	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr2:220406629A>C	ENST00000243776.6	-	2	845	c.597T>G	c.(595-597)ccT>ccG	p.P199P	TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_Silent_p.P199P|CHPF_ENST00000535926.1_Silent_p.P37P|TMEM198_ENST00000344458.2_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	199					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.P199P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGGTGGTGTCAGGCACCAGGA	0.677											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vmc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(595-597)CCT>CCG		chondroitin polymerizing factor							35.0	30.0	32.0					2																	220406629		2201	4300	6501	SO:0001819	synonymous_variant	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406629A>C	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.597T>G	2.37:g.220406629A>C			OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_uc010zlh.1_Silent_p.P37P|CHPF_uc002vmd.3_Silent_p.P199P|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	p.P199P	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	824	-		Renal(207;0.0183)	199			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	c.597T>G	CCDS2443.1																																																																																				PASS	0.677	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		9	11	9	11	---	---	---	---
SUMF1	285362	broad.mit.edu	37	3	4494692	4494692	+	Silent	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:4494692A>G	ENST00000272902.5	-	2	347	c.312T>C	c.(310-312)gaT>gaC	p.D104D	SUMF1_ENST00000405420.2_Silent_p.D104D|SUMF1_ENST00000458465.2_Silent_p.D104D|SUMF1_ENST00000534863.1_Silent_p.D104D|SUMF1_ENST00000383843.5_Silent_p.D104D	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	104					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.D104D(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TCTGAGGATCATCTGTGCCCA	0.453																																						uc003bpz.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(310-312)GAT>GAC		sulfatase modifying factor 1 isoform 1							90.0	74.0	79.0					3																	4494692		2203	4300	6503	SO:0001819	synonymous_variant	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4494692A>G	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.312T>C	3.37:g.4494692A>G						SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Silent_p.D104D|SUMF1_uc010hby.1_Silent_p.D104D|SUMF1_uc011ast.1_Silent_p.D104D	p.D104D	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	2	337	-		Melanoma(143;0.068)|Colorectal(144;0.233)	104					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Silent	SNP	ENST00000272902.5	37	c.312T>C	CCDS2564.1																																																																																				PASS	0.453	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		21	20	21	20	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10442751	10442751	+	Missense_Mutation	SNP	G	G	C	rs141093862		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:10442751G>C	ENST00000352432.4	-	4	736	c.667C>G	c.(667-669)Cct>Gct	p.P223A	ATP2B2_ENST00000343816.4_Missense_Mutation_p.P223A|ATP2B2_ENST00000397077.1_Missense_Mutation_p.P223A|ATP2B2_ENST00000383800.4_Missense_Mutation_p.P223A|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P223A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	223					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.P223A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCGTCGGCAGGGAGGAGGTCA	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(667-669)CCT>GCT		plasma membrane calcium ATPase 2 isoform 1							72.0	68.0	69.0					3																	10442751		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10442751G>C	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.667C>G	3.37:g.10442751G>C	ENSP00000324172:p.Pro223Ala					ATP2B2_uc003bvv.2_Missense_Mutation_p.P223A|ATP2B2_uc003bvw.2_Missense_Mutation_p.P223A|ATP2B2_uc010hdp.2_Missense_Mutation_p.P223A|ATP2B2_uc010hdo.2_5'UTR	p.P223A	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			5	1106	-			223			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.667C>G	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667462	0.88348	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;D;D	0.87578	0.998;0.951;0.983	D	0.98061	1.0393	10	0.66056	D	0.02	-14.3683	19.6187	0.95647	0.0:0.0:1.0:0.0	.	223;235;223	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	A	223;223;223;223;223;189;110;223	ENSP00000324172:P223A;ENSP00000373311:P223A;ENSP00000380267:P223A;ENSP00000353414:P223A;ENSP00000344677:P223A;ENSP00000414854:P110A	ENSP00000342954:P223A	P	-	1	0	ATP2B2	10417751	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.841000	0.99482	2.627000	0.88993	0.650000	0.86243	CCT		PASS	0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		19	26	19	26	---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54798301	54798301	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:54798301C>A	ENST00000474759.1	+	13	1351	c.1303C>A	c.(1303-1305)Ctt>Att	p.L435I	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L435I|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L341I|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L435I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	435	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L435I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CATGGAATACCTTCACGTGCT	0.512																																						uc003dhf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1303-1305)CTT>ATT		calcium channel, voltage-dependent, alpha							157.0	149.0	152.0					3																	54798301		2039	4189	6228	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54798301C>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1303C>A	3.37:g.54798301C>A	ENSP00000419101:p.Leu435Ile					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.L341I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.L169I	p.L435I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	13	1351	+			435			Extracellular (Potential).|VWFA.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1303C>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015792	0.75161	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.09073	3.04;3.04;3.04;3.02	5.95	5.95	0.96441	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	L	0.45422	1.42	0.54753	D	0.999989	P	0.50066	0.931	P	0.55011	0.766	T	0.00872	-1.1532	10	0.22706	T	0.39	.	20.376	0.98922	0.0:1.0:0.0:0.0	.	435	Q8IZS8	CA2D3_HUMAN	I	435;435;435;341;341;340	ENSP00000389506:L435I;ENSP00000419101:L435I;ENSP00000288197:L435I;ENSP00000417279:L341I	ENSP00000288197:L435I	L	+	1	0	CACNA2D3	54773341	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.270000	0.78493	2.826000	0.97356	0.650000	0.86243	CTT		PASS	0.512	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			57	57	57	57	---	---	---	---
POU1F1	5449	broad.mit.edu	37	3	87313626	87313626	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:87313626T>C	ENST00000350375.2	-	3	375	c.251A>G	c.(250-252)cAc>cGc	p.H84R	POU1F1_ENST00000344265.3_Missense_Mutation_p.H110R|POU1F1_ENST00000560656.1_Missense_Mutation_p.H84R	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	84					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H110R(1)|p.H84R(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ACTCAAGGTGTGGTCAGGAAA	0.398																																						uc003dqq.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(250-252)CAC>CGC		pituitary specific transcription factor 1							72.0	77.0	75.0					3																	87313626		2203	4299	6502	SO:0001583	missense	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87313626T>C	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.251A>G	3.37:g.87313626T>C	ENSP00000263781:p.His84Arg					POU1F1_uc010hoj.1_Missense_Mutation_p.H110R	p.H84R	NM_000306	NP_000297	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	3	376	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	84					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	c.251A>G	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670579	0.67814	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.89050	-2.4;-2.46	5.79	5.79	0.91817	.	1.618570	0.02604	N	0.101408	D	0.93331	0.7874	M	0.64404	1.975	0.58432	D	0.999995	D;P	0.62365	0.991;0.861	P;B	0.56916	0.809;0.197	T	0.81263	-0.1012	10	0.31617	T	0.26	.	14.7039	0.69174	0.0:0.0:0.0:1.0	.	110;84	P28069-2;P28069	.;PIT1_HUMAN	R	84;110	ENSP00000263781:H84R;ENSP00000342931:H110R	ENSP00000342931:H110R	H	-	2	0	POU1F1	87396316	1.000000	0.71417	0.999000	0.59377	0.509000	0.34042	6.970000	0.76099	2.208000	0.71279	0.533000	0.62120	CAC		PASS	0.398	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		21	20	21	20	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99514450	99514450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:99514450G>T	ENST00000261037.3	+	5	2085	c.1705G>T	c.(1705-1707)Gga>Tga	p.G569*	COL8A1_ENST00000273342.4_Nonsense_Mutation_p.G569*	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	569	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.G569*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						aggacctccaggacccccagC	0.657																																						uc003dtg.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1705-1707)GGA>TGA		alpha 1 type VIII collagen precursor							31.0	34.0	33.0					3																	99514450		2203	4300	6503	SO:0001587	stop_gained	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514450G>T	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1705G>T	3.37:g.99514450G>T	ENSP00000261037:p.Gly569*					COL8A1_uc003dth.1_Nonsense_Mutation_p.G569*|COL8A1_uc003dti.1_Nonsense_Mutation_p.G570*	p.G569*	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	1950	+			569			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Nonsense_Mutation	SNP	ENST00000261037.3	37	c.1705G>T	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398866	0.96030	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.05	0.86516	0.0:0.0:1.0:0.0	.	.	.	.	X	569	.	ENSP00000261037:G569X	G	+	1	0	COL8A1	100997140	1.000000	0.71417	0.756000	0.31282	0.254000	0.26022	9.157000	0.94714	2.630000	0.89119	0.563000	0.77884	GGA		PASS	0.657	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		22	51	22	51	---	---	---	---
ZPLD1	131368	broad.mit.edu	37	3	102175170	102175170	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:102175170G>A	ENST00000491959.1	+	11	1343	c.461G>A	c.(460-462)aGt>aAt	p.S154N	ZPLD1_ENST00000466937.1_Missense_Mutation_p.S154N|ZPLD1_ENST00000306176.1_Missense_Mutation_p.S170N			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	154	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.S170N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TACAAATTTAGTTGTAGTTAT	0.368																																						uc003dvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(460-462)AGT>AAT		zona pellucida-like domain containing 1							173.0	178.0	176.0					3																	102175170		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102175170G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.461G>A	3.37:g.102175170G>A	ENSP00000420265:p.Ser154Asn					ZPLD1_uc003dvt.1_Missense_Mutation_p.S170N|ZPLD1_uc011bhg.1_Missense_Mutation_p.S154N	p.S154N	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			11	1343	+			154			ZP.|Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.461G>A		.	.	.	.	.	.	.	.	.	.	G	29.0	4.966907	0.92855	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.83075	-1.68;-1.68;-1.68	5.69	5.69	0.88448	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.91358	0.7274	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.986;0.997	D	0.91348	0.5102	10	0.62326	D	0.03	-8.3013	19.8165	0.96571	0.0:0.0:1.0:0.0	.	170;154	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	N	154;170;154	ENSP00000420265:S154N;ENSP00000307801:S170N;ENSP00000418253:S154N	ENSP00000307801:S170N	S	+	2	0	ZPLD1	103657860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.455000	0.97625	2.683000	0.91414	0.655000	0.94253	AGT		PASS	0.368	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		58	130	58	130	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108682279	108682280	+	Nonsense_Mutation	DNP	CA	CA	TT			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:108682279_108682280CA>TT	ENST00000483760.1	-	26	2760_2761	c.2717_2718TG>AA	c.(2716-2718)tTG>tAA	p.L906*	MORC1_ENST00000232603.5_Nonsense_Mutation_p.L927*					MORC family CW-type zinc finger 1									p.L927*(2)|p.L927L(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTTCTGCAACAATAGTGCCAG	0.371																																						uc003dxl.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(3)|breast(2)	8						c.(2779-2781)TTG>TTA|c.(2779-2781)TTG>TAG		MORC family CW-type zinc finger 1																																				SO:0001587	stop_gained	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682279C>T|g.chr3:108682280A>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2717_2718delinsTT	3.37:g.108682279_108682280delinsTT	ENSP00000417282:p.Leu906*					MORC1_uc011bhn.1_Silent_p.L906L|MORC1_uc011bhn.1_Nonsense_Mutation_p.L906*	p.L927L|p.L927*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			27	2868|2867	-			927			Potential.			Silent|Nonsense_Mutation	SNP	ENST00000483760.1	37	c.2781G>A|c.2780T>A																																																																																					PASS	0.371	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			28	97|96	28	96	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122284830	122284830	+	Silent	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:122284830G>C	ENST00000296161.4	+	2	501	c.312G>C	c.(310-312)ctG>ctC	p.L104L	PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000471785.1_5'Flank|DTX3L_ENST00000383661.3_Silent_p.L104L|PARP9_ENST00000360356.2_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	104					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L104L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TTTCTTCACTGACACAATCAC	0.408																																						uc003efk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(310-312)CTG>CTC		deltex 3-like							109.0	99.0	102.0					3																	122284830		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122284830G>C		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.312G>C	3.37:g.122284830G>C						DTX3L_uc010hrj.2_Silent_p.L104L|PARP9_uc003eff.3_5'Flank|PARP9_uc010hri.2_5'Flank|PARP9_uc011bjs.1_5'Flank|PARP9_uc003efg.2_5'Flank|PARP9_uc003efi.2_5'Flank|PARP9_uc003efh.2_5'Flank|PARP9_uc003efj.2_5'Flank	p.L104L	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	2	401	+			104					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.312G>C	CCDS3015.1																																																																																				PASS	0.408	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		30	96	30	96	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180328230	180328230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:180328230C>G	ENST00000296015.4	+	12	2345	c.2213C>G	c.(2212-2214)tCa>tGa	p.S738*	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	738							RNA binding (GO:0003723)	p.S738*(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAGAACACTCAGAAAGCAGT	0.299																																						uc003fkk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2212-2214)TCA>TGA		tetratricopeptide repeat domain 14 isoform a							57.0	61.0	59.0					3																	180328230		2203	4299	6502	SO:0001587	stop_gained	151613						RNA binding	g.chr3:180328230C>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2213C>G	3.37:g.180328230C>G	ENSP00000296015:p.Ser738*					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.S738*	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2345	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		738					G5E9X0|Q6UWJ7|Q8TF22	Nonsense_Mutation	SNP	ENST00000296015.4	37	c.2213C>G	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	37	6.260334	0.97421	.	.	ENSG00000163728	ENST00000296015	.	.	.	5.92	5.92	0.95590	.	0.741883	0.12542	N	0.459829	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.4318	20.3151	0.98650	0.0:1.0:0.0:0.0	.	.	.	.	X	738	.	ENSP00000296015:S738X	S	+	2	0	TTC14	181810924	1.000000	0.71417	0.978000	0.43139	0.414000	0.31173	4.735000	0.62051	2.809000	0.96659	0.467000	0.42956	TCA		PASS	0.299	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		16	91	16	91	---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196863538	196863538	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr3:196863538T>C	ENST00000419354.1	-	11	1280	c.994A>G	c.(994-996)Agc>Ggc	p.S332G	DLG1_ENST00000422288.1_Missense_Mutation_p.S281G|DLG1_ENST00000392382.2_Missense_Mutation_p.S299G|DLG1_ENST00000450955.1_Missense_Mutation_p.S299G|DLG1_ENST00000346964.2_Missense_Mutation_p.S332G|DLG1_ENST00000314062.3_Missense_Mutation_p.S281G|DLG1_ENST00000452595.1_Missense_Mutation_p.S216G|DLG1_ENST00000448528.2_Missense_Mutation_p.S332G|DLG1_ENST00000443183.1_Missense_Mutation_p.S216G|DLG1_ENST00000357674.4_Missense_Mutation_p.S299G			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	332	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.S332G(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CCAGCAATGCTAAACCCAAGA	0.383																																						uc003fxo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(994-996)AGC>GGC		discs, large homolog 1 isoform 1							127.0	117.0	120.0					3																	196863538		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196863538T>C	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.994A>G	3.37:g.196863538T>C	ENSP00000407531:p.Ser332Gly					DLG1_uc011bub.1_Missense_Mutation_p.S216G|DLG1_uc011buc.1_Missense_Mutation_p.S216G|DLG1_uc011bud.1_Missense_Mutation_p.S15G|DLG1_uc003fxn.3_Missense_Mutation_p.S332G|DLG1_uc011bue.1_Missense_Mutation_p.S299G|DLG1_uc010ial.2_Missense_Mutation_p.S332G|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.S299G|DLG1_uc010ian.2_Missense_Mutation_p.S199G	p.S332G	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	11	1184	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	332			PDZ 2.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.994A>G	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846394	0.91277	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.41	5.41	0.78517	PDZ/DHR/GLGF (4);	0.093415	0.64402	D	0.000001	T	0.60327	0.2260	M	0.88450	2.955	0.80722	D	1	B;D;B;B;B;D;B	0.76494	0.064;0.999;0.098;0.098;0.053;0.999;0.053	B;P;B;B;B;D;B	0.65684	0.016;0.867;0.036;0.036;0.013;0.937;0.013	T	0.68318	-0.5440	10	0.62326	D	0.03	.	14.9092	0.70743	0.0:0.0:0.0:1.0	.	299;216;216;216;299;332;332	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	G	332;332;299;332;281;332;216;281;332;216;299;299;141	ENSP00000345731:S332G;ENSP00000350303:S299G;ENSP00000321087:S281G;ENSP00000407531:S332G;ENSP00000398939:S216G;ENSP00000413238:S281G;ENSP00000391732:S332G;ENSP00000396658:S216G;ENSP00000376187:S299G;ENSP00000411278:S299G;ENSP00000398702:S141G	ENSP00000321087:S281G	S	-	1	0	DLG1	198347935	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.635000	0.83286	2.176000	0.68965	0.533000	0.62120	AGC		PASS	0.383	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		66	129	66	129	---	---	---	---
GAK	2580	broad.mit.edu	37	4	905528	905528	+	Silent	SNP	C	C	G	rs375145539		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:905528C>G	ENST00000314167.4	-	4	425	c.315G>C	c.(313-315)gcG>gcC	p.A105A	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A105A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTCCTATAGACGCTGCAGAAC	0.502																																						uc003gbm.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(313-315)GCG>GCC		cyclin G associated kinase							104.0	101.0	102.0					4																	905528		2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:905528C>G	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.315G>C	4.37:g.905528C>G						GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_5'UTR	p.A105A	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	4	514	-			105			Protein kinase.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.315G>C	CCDS3340.1																																																																																				PASS	0.502	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		31	56	31	56	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10447122	10447122	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:10447122C>A	ENST00000326756.3	-	3	1269	c.831G>T	c.(829-831)ttG>ttT	p.L277F		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	277					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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.L277F(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTTCAGGTAACAACATGATAT	0.363																																						uc003gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(829-831)TTG>TTT		zinc finger protein 518B							210.0	203.0	205.0					4																	10447122		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447122C>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.831G>T	4.37:g.10447122C>A	ENSP00000317614:p.Leu277Phe						p.L277F	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	1318	-			277					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.831G>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029758	0.54790	.	.	ENSG00000178163	ENST00000326756	T	0.01745	4.66	5.65	2.76	0.32466	.	0.892429	0.09404	N	0.806715	T	0.01287	0.0042	L	0.36672	1.1	0.09310	N	1	P	0.42409	0.779	B	0.31191	0.125	T	0.47058	-0.9146	10	0.35671	T	0.21	-5.2437	0.8726	0.01217	0.2166:0.4032:0.1272:0.253	.	277	Q9C0D4	Z518B_HUMAN	F	277	ENSP00000317614:L277F	ENSP00000317614:L277F	L	-	3	2	ZNF518B	10056220	0.000000	0.05858	0.003000	0.11579	0.994000	0.84299	0.059000	0.14322	0.923000	0.37045	0.655000	0.94253	TTG		PASS	0.363	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		50	211	50	211	---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20711361	20711361	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:20711361C>G	ENST00000503585.1	+	5	722	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.L111V|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000360916.5_Missense_Mutation_p.L111V|PACRGL_ENST00000295290.8_Missense_Mutation_p.L111V	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	111								p.L111V(1)		endometrium(2)|lung(7)|prostate(1)	10						TCCTGAAAGTCTTTCATTTGA	0.289																																						uc010iek.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)CTT>GTT		PARK2 co-regulated-like isoform 1							125.0	130.0	128.0					4																	20711361		2203	4297	6500	SO:0001583	missense	133015						binding	g.chr4:20711361C>G	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.331C>G	4.37:g.20711361C>G	ENSP00000423881:p.Leu111Val					PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.L159V|PACRGL_uc003gpz.2_Missense_Mutation_p.L111V|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.L111V|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	p.L111V	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			5	722	+			111					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.331C>G	CCDS58895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.077407|2.077407	0.36662|0.36662	.|.	.|.	ENSG00000163138|ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000509469;ENST00000513590;ENST00000507634|ENST00000506457	.|.	.|.	.|.	5.76|5.76	4.92|4.92	0.64577|0.64577	.|.	0.177180|.	0.39475|.	N|.	0.001356|.	T|T	0.59459|0.59459	0.2195|0.2195	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;P;B|.	0.38827|.	0.243;0.649;0.204|.	B;B;B|.	0.42462|.	0.095;0.388;0.058|.	T|T	0.62248|0.62248	-0.6894|-0.6894	9|6	0.42905|0.66056	T|D	0.14|0.02	-28.896|-28.896	6.4213|6.4213	0.21746|0.21746	0.1268:0.6623:0.138:0.0729|0.1268:0.6623:0.138:0.0729	.|.	111;159;111|.	Q8N7B6;D6R9N9;Q8N7B6-2|.	PACRL_HUMAN;.;.|.	V|C	159;111;111;111;111;111;111;111|42	.|.	ENSP00000295290:L111V|ENSP00000426399:S42C	L|S	+|+	1|2	0|0	PACRGL|PACRGL	20320459|20320459	0.911000|0.911000	0.30947|0.30947	0.736000|0.736000	0.30914|0.30914	0.967000|0.967000	0.64934|0.64934	1.445000|1.445000	0.35079|0.35079	1.432000|1.432000	0.47375|0.47375	0.591000|0.591000	0.81541|0.81541	CTT|TCT		PASS	0.289	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		5	44	5	44	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22748917	22748917	+	RNA	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:22748917A>G	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.?(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTTCCTCCTAGGAATTGATT	0.323																																						uc003gqp.3																			1	Unknown(1)		lung(1)		0						c.e3-2		cytosolic beta-glucosidase isoform a							91.0	91.0	91.0					4																	22748917		1803	4066	5869			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22748917A>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22748917A>G						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Splice_Site_p.G97_splice	p.G96_splice	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	378	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Splice_Site	SNP	ENST00000503442.1	37	c.287_splice																																																																																					PASS	0.323	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			25	74	25	74	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56875952	56875952	+	Silent	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:56875952G>C	ENST00000257287.4	+	19	2512	c.2388G>C	c.(2386-2388)cgG>cgC	p.R796R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	796					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R796R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACAGCCTCCGGCGCCAGCTTG	0.398																																						uc003hbi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2386-2388)CGG>CGC		centrosome protein 4							68.0	69.0	69.0					4																	56875952		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56875952G>C	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2388G>C	4.37:g.56875952G>C						CEP135_uc003hbj.2_Silent_p.R502R	p.R796R	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			19	2622	+	Glioma(25;0.08)|all_neural(26;0.101)		796			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.2388G>C	CCDS33986.1																																																																																				PASS	0.398	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		21	40	21	40	---	---	---	---
ANXA3	306	broad.mit.edu	37	4	79525538	79525538	+	Silent	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:79525538A>G	ENST00000264908.6	+	12	1276	c.897A>G	c.(895-897)ctA>ctG	p.L299L	ANXA3_ENST00000512884.1_Silent_p.L260L|ANXA3_ENST00000503570.2_Silent_p.L260L	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	299					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)	p.L299L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCTATTCCCTATATTCAGCAA	0.338																																					GBM(2;126 157 27790 28920 42492)	uc003hld.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(895-897)CTA>CTG		annexin A3							82.0	81.0	81.0					4																	79525538		2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79525538A>G	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.897A>G	4.37:g.79525538A>G						ANXA3_uc003hle.2_Silent_p.L260L|ANXA3_uc010ijk.2_Silent_p.L260L	p.L299L	NM_005139	NP_005130	P12429	ANXA3_HUMAN			12	1207	+			299			Annexin 4.		B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.897A>G	CCDS3584.1																																																																																				PASS	0.338	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		16	43	16	43	---	---	---	---
MEPE	56955	broad.mit.edu	37	4	88766213	88766213	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:88766213G>A	ENST00000424957.3	+	4	266	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000497649.2_Missense_Mutation_p.V41I|MEPE_ENST00000395102.4_Missense_Mutation_p.V96I|MEPE_ENST00000361056.3_Missense_Mutation_p.V65I|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000511670.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	65					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.V65I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAAAATATTGTCCAGGAAAG	0.313																																						uc003hqy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(193-195)GTC>ATC		matrix, extracellular phosphoglycoprotein with							46.0	50.0	49.0					4																	88766213		2201	4295	6496	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766213G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.193G>A	4.37:g.88766213G>A	ENSP00000416984:p.Val65Ile					MEPE_uc010ikn.2_5'UTR	p.V65I	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	232	+		Hepatocellular(203;0.114)	65					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.193G>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	6.542	0.468309	0.12461	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000361056	T;T;T;T	0.39997	4.31;1.05;1.06;4.31	4.99	1.67	0.24075	.	1.586910	0.03839	N	0.270304	T	0.36054	0.0953	L	0.50919	1.6	0.09310	N	0.999998	B	0.25850	0.136	B	0.21151	0.033	T	0.16041	-1.0416	10	0.23302	T	0.38	0.7903	5.8758	0.18828	0.3744:0.0:0.6256:0.0	.	65	Q9NQ76	MEPE_HUMAN	I	65;65;96;41;65	ENSP00000416984:V65I;ENSP00000378534:V96I;ENSP00000422747:V41I;ENSP00000354341:V65I	ENSP00000354341:V65I	V	+	1	0	MEPE	88985237	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	1.137000	0.31479	0.526000	0.28541	0.655000	0.94253	GTC		PASS	0.313	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			10	56	10	56	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104067180	104067180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:104067180C>A	ENST00000265148.3	-	30	4308	c.4219G>T	c.(4219-4221)Gag>Tag	p.E1407*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E1382*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1407					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.E1407*(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAATTGCTCCATCTCACTC	0.348																																						uc003hxb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(4)	9						c.(4219-4221)GAG>TAG		centromere protein E							158.0	141.0	147.0					4																	104067180		2203	4300	6503	SO:0001587	stop_gained	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104067180C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4219G>T	4.37:g.104067180C>A	ENSP00000265148:p.Glu1407*					CENPE_uc003hxc.1_Nonsense_Mutation_p.E1382*	p.E1407*	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	30	4309	-			1407			Potential.		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	c.4219G>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	43	9.902241	0.99292	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	4.75	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.4131	0.49937	0.0:0.9136:0.0:0.0864	.	.	.	.	X	1407;1407;1382	.	ENSP00000265148:E1407X	E	-	1	0	CENPE	104286629	0.075000	0.21258	0.269000	0.24586	0.750000	0.42670	1.686000	0.37669	1.118000	0.41863	0.643000	0.83706	GAG		PASS	0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				19	81	19	81	---	---	---	---
NEUROG2	63973	broad.mit.edu	37	4	113436115	113436115	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:113436115G>C	ENST00000313341.3	-	2	843	c.517C>G	c.(517-519)Cac>Gac	p.H173D	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	173					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)	p.H173D(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		cccccgcAGTGATCCGCCAGG	0.711																																						uc003ias.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(517-519)CAC>GAC		neurogenin 2							18.0	20.0	20.0					4																	113436115		2191	4294	6485	SO:0001583	missense	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436115G>C	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.517C>G	4.37:g.113436115G>C	ENSP00000317333:p.His173Asp						p.H173D	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	844	-		Ovarian(17;0.156)	173					Q8N416	Missense_Mutation	SNP	ENST00000313341.3	37	c.517C>G	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383222	0.61845	.	.	ENSG00000178403	ENST00000313341	D	0.90620	-2.7	3.76	2.9	0.33743	Helix-loop-helix DNA-binding (1);	0.364825	0.19807	N	0.105634	D	0.86016	0.5832	N	0.19112	0.55	0.42321	D	0.992256	P	0.48640	0.913	P	0.52909	0.713	T	0.79883	-0.1615	10	0.13470	T	0.59	-15.4871	10.1703	0.42906	0.0:0.0:0.7995:0.2005	.	173	Q9H2A3	NGN2_HUMAN	D	173	ENSP00000317333:H173D	ENSP00000317333:H173D	H	-	1	0	NEUROG2	113655564	1.000000	0.71417	0.970000	0.41538	0.932000	0.56968	7.507000	0.81676	0.761000	0.33130	0.563000	0.77884	CAC		PASS	0.711	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		3	23	3	23	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114269456	114269456	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:114269456G>C	ENST00000357077.4	+	36	4449	c.4396G>C	c.(4396-4398)Gag>Cag	p.E1466Q	ANK2_ENST00000394537.3_Missense_Mutation_p.E1466Q|ANK2_ENST00000506722.1_Missense_Mutation_p.E1457Q|ANK2_ENST00000510275.2_Missense_Mutation_p.E118Q|ANK2_ENST00000509550.1_Missense_Mutation_p.E642Q|ANK2_ENST00000264366.6_Missense_Mutation_p.E1433Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1466	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E1466Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAGAACAGGAGGAAGAGGT	0.413																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(4396-4398)GAG>CAG		ankyrin 2 isoform 1							142.0	119.0	127.0					4																	114269456		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114269456G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4396G>C	4.37:g.114269456G>C	ENSP00000349588:p.Glu1466Gln					ANK2_uc003ibd.3_Missense_Mutation_p.E1457Q|ANK2_uc003ibf.3_Missense_Mutation_p.E1466Q|ANK2_uc011cgc.1_Missense_Mutation_p.E642Q|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Missense_Mutation_p.E140Q|ANK2_uc011cgb.1_Missense_Mutation_p.E1481Q	p.E1466Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	36	4496	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1433					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4396G>C	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.947886|4.947886	0.92593|0.92593	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275|ENST00000504415	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|T	0.73281|0.73281	0.3567|0.3567	L|L	0.59436|0.59436	1.845|1.845	0.51482|0.51482	D|D	0.999929|0.999929	P;D;B;D;P|.	0.89917|.	0.454;0.999;0.029;1.0;0.692|.	B;D;B;D;B|.	0.74023|.	0.105;0.943;0.025;0.982;0.146|.	T|T	0.69624|0.69624	-0.5095|-0.5095	10|5	0.45353|.	T|.	0.12|.	.|.	19.395|19.395	0.94603|0.94603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	642;1433;1466;1466;1457|.	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.|.	Q|A	1379;1457;1481;1466;1466;1433;1457;642;118|118	ENSP00000421011:E1379Q;ENSP00000421067:E1457Q;ENSP00000424722:E1481Q;ENSP00000378044:E1466Q;ENSP00000349588:E1466Q;ENSP00000264366:E1433Q;ENSP00000426944:E642Q;ENSP00000421023:E118Q|.	ENSP00000264366:E1433Q|.	E|G	+|+	1|2	0|0	ANK2|ANK2	114488905|114488905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.274000|9.274000	0.95731|0.95731	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	GAG|GGA		PASS	0.413	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		12	32	12	32	---	---	---	---
MARCH1	55016	broad.mit.edu	37	4	165118299	165118299	+	Intron	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:165118299C>G	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E189Q(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				tcctcctcctcctcgccctcc	0.547																																						uc011cjk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)GAG>CAG		acidic nuclear phosphoprotein 32C							167.0	133.0	144.0					4																	165118299		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118299C>G	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85485G>C	4.37:g.165118299C>G						MARCH1_uc003iqs.1_Intron	p.E189Q	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	565	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	189			Asp/Glu-rich (highly acidic).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.565G>C	CCDS54814.1																																																																																				PASS	0.547	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		12	11	12	11	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19473819	19473819	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr5:19473819A>T	ENST00000507958.1	-	15	2879	c.1889T>A	c.(1888-1890)gTg>gAg	p.V630E	CDH18_ENST00000382275.1_Missense_Mutation_p.V630E|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.V630E|CDH18_ENST00000506372.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	630					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V630E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAAAAGTACCACAATTGCTGA	0.413																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1888-1890)GTG>GAG		cadherin 18, type 2 preproprotein							116.0	125.0	122.0					5																	19473819		2201	4295	6496	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473819A>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1889T>A	5.37:g.19473819A>T	ENSP00000425093:p.Val630Glu					CDH18_uc003jgd.2_Missense_Mutation_p.V630E|CDH18_uc011cnm.1_3'UTR	p.V630E	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2266	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		630			Helical; (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1889T>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059261	0.76074	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.62105	0.05;0.05;0.05	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	M	0.86740	2.835	0.80722	D	1	D	0.54772	0.968	P	0.54590	0.756	T	0.81152	-0.1063	9	.	.	.	.	15.6301	0.76899	1.0:0.0:0.0:0.0	.	630	Q13634	CAD18_HUMAN	E	630	ENSP00000371710:V630E;ENSP00000425093:V630E;ENSP00000274170:V630E	.	V	-	2	0	CDH18	19509576	1.000000	0.71417	0.741000	0.31004	0.668000	0.39293	9.334000	0.96470	2.367000	0.80283	0.528000	0.53228	GTG		PASS	0.413	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		60	272	60	272	---	---	---	---
FBXL17	64839	broad.mit.edu	37	5	107521909	107521909	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr5:107521909C>T	ENST00000542267.1	-	6	2060	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	FBXL17_ENST00000359660.5_Missense_Mutation_p.E154K|FBXL17_ENST00000496714.1_Missense_Mutation_p.E154K	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	552								p.E154K(1)|p.E552K(1)		endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TTATCCAGTTCAGTGATATGA	0.358																																						uc011cvc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1654-1656)GAA>AAA		F-box and leucine-rich repeat protein 17							96.0	91.0	93.0					5																	107521909		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107521909C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1654G>A	5.37:g.107521909C>T	ENSP00000437464:p.Glu552Lys					FBXL17_uc003kon.3_Missense_Mutation_p.E154K	p.E552K	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	6	2061	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	552					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1654G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495404	0.85069	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.16457	2.34;4.33;2.34	5.24	5.24	0.73138	.	0.071776	0.53938	D	0.000046	T	0.33498	0.0865	L	0.46157	1.445	0.58432	D	0.999998	D;D	0.71674	0.997;0.998	D;D	0.80764	0.985;0.994	T	0.02975	-1.1087	10	0.09338	T	0.73	.	19.1703	0.93575	0.0:1.0:0.0:0.0	.	552;154	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	K	154;552;154	ENSP00000352683:E154K;ENSP00000437464:E552K;ENSP00000418111:E154K	ENSP00000352683:E154K	E	-	1	0	FBXL17	107549808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.383000	0.79741	2.591000	0.87537	0.591000	0.81541	GAA		PASS	0.358	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	23	10	23	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113740225	113740225	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr5:113740225G>T	ENST00000512097.3	+	4	1691	c.673G>T	c.(673-675)Gct>Tct	p.A225S	KCNN2_ENST00000264773.3_Missense_Mutation_p.A225S|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	225					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A225S(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ACTGGTGTGTGCTATTCATCC	0.443																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(673-675)GCT>TCT		small conductance calcium-activated potassium							217.0	209.0	212.0					5																	113740225		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740225G>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.673G>T	5.37:g.113740225G>T	ENSP00000427120:p.Ala225Ser						p.A225S	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1130	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	225			Helical; Name=Segment S3; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.673G>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795493	0.90453	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98762	-5.12;-5.12	5.29	5.29	0.74685	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	L	0.49256	1.55	0.80722	D	1	P	0.45634	0.863	P	0.50049	0.629	D	0.99104	1.0844	10	0.56958	D	0.05	.	18.5281	0.90980	0.0:0.0:1.0:0.0	.	225	Q9H2S1	KCNN2_HUMAN	S	225	ENSP00000427120:A225S;ENSP00000264773:A225S	ENSP00000264773:A225S	A	+	1	0	KCNN2	113768124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.911000	0.87458	2.467000	0.83353	0.462000	0.41574	GCT		PASS	0.443	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		55	92	55	92	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156346515	156346515	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr5:156346515C>G	ENST00000274532.2	-	9	1146	c.1090G>C	c.(1090-1092)Gac>Cac	p.D364H	TIMD4_ENST00000407087.3_Missense_Mutation_p.D336H|TIMD4_ENST00000406964.1_Missense_Mutation_p.D66H	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	364						integral component of membrane (GO:0016021)		p.D364H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTGCACGTCATTGAGGACA	0.433																																						uc003lwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1090-1092)GAC>CAC		T-cell immunoglobulin and mucin domain							185.0	158.0	167.0					5																	156346515		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156346515C>G	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.1090G>C	5.37:g.156346515C>G	ENSP00000274532:p.Asp364His					TIMD4_uc010jii.2_Missense_Mutation_p.D336H|TIMD4_uc003lwg.2_Missense_Mutation_p.D66H	p.D364H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1147	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	364			Cytoplasmic (Potential).		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.1090G>C	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277995	0.59758	.	.	ENSG00000145850	ENST00000274532;ENST00000406964;ENST00000407087	T;T;T	0.72394	-0.65;-0.65;-0.65	4.66	4.66	0.58398	.	0.157426	0.30085	N	0.010450	T	0.73071	0.3540	N	0.24115	0.695	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	T	0.66594	-0.5884	10	0.87932	D	0	-9.4972	13.4174	0.60976	0.0:1.0:0.0:0.0	.	336;364	B5MCL9;Q96H15	.;TIMD4_HUMAN	H	364;66;336	ENSP00000274532:D364H;ENSP00000385882:D66H;ENSP00000385973:D336H	ENSP00000274532:D364H	D	-	1	0	TIMD4	156279093	0.100000	0.21855	0.091000	0.20842	0.156000	0.22039	1.723000	0.38053	2.312000	0.78011	0.561000	0.74099	GAC		PASS	0.433	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		30	39	30	39	---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24448431	24448431	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:24448431G>A	ENST00000230036.1	-	16	1562	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	484					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.A484A(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGACATACACGGCACCCTAGA	0.448																																						uc003ned.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1450-1452)GCC>GCT		glycosylphosphatidylinositol specific							97.0	91.0	93.0					6																	24448431		2203	4300	6503	SO:0001819	synonymous_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24448431G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1452C>T	6.37:g.24448431G>A						GPLD1_uc010jpr.1_Silent_p.A321A|GPLD1_uc010jps.1_Silent_p.A484A	p.A484A	NM_001503	NP_001494	P80108	PHLD_HUMAN			16	1563	-			484			FG-GAP 2.		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	c.1452C>T	CCDS4553.1																																																																																				PASS	0.448	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		4	52	4	52	---	---	---	---
C6orf15	29113	broad.mit.edu	37	6	31079488	31079488	+	Silent	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:31079488C>A	ENST00000259870.3	-	2	651	c.648G>T	c.(646-648)gtG>gtT	p.V216V		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	216					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.V216V(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CTCCCCAGGACACACTGGGAT	0.607																																						uc003nsk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)GTG>GTT		STG protein precursor							33.0	34.0	34.0					6																	31079488		1723	3289	5012	SO:0001819	synonymous_variant	29113							g.chr6:31079488C>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.648G>T	6.37:g.31079488C>A							p.V216V	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	648	-			216					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.648G>T	CCDS4693.1																																																																																				PASS	0.607	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		14	41	14	41	---	---	---	---
LY6G6F	259215	broad.mit.edu	37	6	31675844	31675844	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:31675844G>C	ENST00000375832.4	+	3	601	c.579G>C	c.(577-579)agG>agC	p.R193S	LY6G6F_ENST00000556581.1_Missense_Mutation_p.R193S|MEGT1_ENST00000503322.1_Missense_Mutation_p.R193S|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R193S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTGAGCCCAGGAGCCGAAGAC	0.587																																						uc003nwa.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(577-579)AGG>AGC		G6f protein precursor							120.0	134.0	129.0					6																	31675844		1508	2709	4217	SO:0001583	missense	259215					integral to membrane|plasma membrane		g.chr6:31675844G>C		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.579G>C	6.37:g.31675844G>C	ENSP00000364992:p.Arg193Ser					BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Missense_Mutation_p.R193S	p.R193S	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			3	579	+			193			Extracellular (Potential).		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.579G>C	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296530	0.23650	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.30981	1.82;1.51;1.82	5.15	-3.17	0.05202	.	0.197182	0.34386	N	0.004011	T	0.11793	0.0287	L	0.55481	1.735	0.09310	N	1	D;P	0.54047	0.964;0.935	P;B	0.44673	0.457;0.29	T	0.21586	-1.0241	10	0.66056	D	0.02	-13.998	5.4812	0.16725	0.5605:0.0:0.282:0.1576	.	193;193	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	S	193	ENSP00000452432:R193S;ENSP00000364992:R193S;ENSP00000421232:R193S	ENSP00000364992:R193S	R	+	3	2	XXbac-BPG32J3.19;LY6G6F	31783823	0.024000	0.19004	0.067000	0.19924	0.412000	0.31113	0.060000	0.14342	-0.263000	0.09378	-0.229000	0.12294	AGG		PASS	0.587	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		23	106	23	106	---	---	---	---
TAP1	6890	broad.mit.edu	37	6	32821269	32821269	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:32821269G>C	ENST00000354258.4	-	1	486	c.325C>G	c.(325-327)Ccc>Gcc	p.P109A	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	109					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.P109A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGCGCGGTGGGCACCAGCAGG	0.711																																						uc003ocg.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(325-327)CCC>GCC		transporter 1, ATP-binding cassette, sub-family							19.0	24.0	22.0					6																	32821269		1499	2704	4203	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32821269G>C		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.325C>G	6.37:g.32821269G>C	ENSP00000346206:p.Pro109Ala					TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	p.P109A	NM_000593	NP_000584	Q03518	TAP1_HUMAN			1	480	-			109			Lumenal (Potential).		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.325C>G	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269541	0.40095	.	.	ENSG00000168394	ENST00000354258	D	0.86694	-2.16	3.83	3.83	0.44106	.	0.577685	0.14473	N	0.317449	D	0.86314	0.5903	L	0.36672	1.1	0.53688	D	0.999971	D	0.76494	0.999	D	0.80764	0.994	D	0.85123	0.0970	10	0.44086	T	0.13	-0.475	11.1253	0.48315	0.0:0.0:1.0:0.0	.	109	Q03518	TAP1_HUMAN	A	109	ENSP00000346206:P109A	ENSP00000346206:P109A	P	-	1	0	TAP1	32929247	0.998000	0.40836	0.071000	0.20095	0.065000	0.16274	4.258000	0.58822	1.980000	0.57719	0.542000	0.68232	CCC		PASS	0.711	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		7	33	7	33	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46977383	46977383	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:46977383G>A	ENST00000371253.2	-	11	2003	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.S399S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	596					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S596S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GACTTCCAATGGAGATACCCA	0.433																																						uc003oyt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1786-1788)TCC>TCT		G-protein coupled receptor 110 isoform 1							101.0	93.0	96.0					6																	46977383		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977383G>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1788C>T	6.37:g.46977383G>A						GPR110_uc011dwl.1_Silent_p.S284S	p.S596S	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1987	-			596			Helical; Name=1; (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.1788C>T	CCDS34471.1																																																																																				PASS	0.433	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		19	33	19	33	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51503653	51503653	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:51503653G>A	ENST00000371117.3	-	64	11775	c.11500C>T	c.(11500-11502)Cct>Tct	p.P3834S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3834					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.P3834S(1)		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)					TTACCTGGAGGAGAAGTGACA	0.368																																						uc003pah.1																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11500-11502)CCT>TCT		fibrocystin isoform 1							133.0	137.0	136.0					6																	51503653		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.chr6:51503653G>A	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.11500C>T	6.37:g.51503653G>A	ENSP00000360158:p.Pro3834Ser						p.P3834S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			64	11776	-	Lung NSC(77;0.0605)		3834			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11500C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142162	0.77775	.	.	ENSG00000170927	ENST00000371117	D	0.89746	-2.56	5.7	5.7	0.88788	.	0.151693	0.46145	D	0.000301	D	0.92652	0.7665	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92969	0.6396	10	0.66056	D	0.02	.	15.3204	0.74117	0.0:0.0:1.0:0.0	.	3834	P08F94	PKHD1_HUMAN	S	3834	ENSP00000360158:P3834S	ENSP00000360158:P3834S	P	-	1	0	PKHD1	51611612	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.972000	0.63756	2.680000	0.91292	0.585000	0.79938	CCT		PASS	0.368	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		30	114	30	114	---	---	---	---
NDUFAF4	29078	broad.mit.edu	37	6	97339162	97339162	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:97339162T>A	ENST00000316149.7	-	3	425	c.346A>T	c.(346-348)Att>Ttt	p.I116F	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	116					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)		p.I116F(1)		large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GCTTCTACAATGGAAATTTTG	0.373																																						uc003pow.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(346-348)ATT>TTT		NADH dehydrogenase (ubiquinone) 1 alpha							70.0	73.0	72.0					6																	97339162		2202	4300	6502	SO:0001583	missense	29078				mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	g.chr6:97339162T>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.346A>T	6.37:g.97339162T>A	ENSP00000358272:p.Ile116Phe					NDUFAF4_uc003pov.2_RNA	p.I116F	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN			3	436	-			116					B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	c.346A>T	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478574	0.26511	.	.	ENSG00000123545	ENST00000316149	D	0.83755	-1.76	5.27	-4.97	0.03029	.	0.457502	0.25543	N	0.029953	T	0.70193	0.3196	M	0.65498	2.005	0.22401	N	0.999131	P	0.38335	0.627	B	0.42827	0.399	T	0.73043	-0.4107	10	0.72032	D	0.01	-5.6753	12.9934	0.58634	0.0:0.536:0.0881:0.3759	.	116	Q9P032	NDUF4_HUMAN	F	116	ENSP00000358272:I116F	ENSP00000358272:I116F	I	-	1	0	NDUFAF4	97445883	0.000000	0.05858	0.007000	0.13788	0.057000	0.15508	-1.207000	0.03008	-1.312000	0.02306	-1.139000	0.01908	ATT		PASS	0.373	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165		15	36	15	36	---	---	---	---
AMD1	262	broad.mit.edu	37	6	111214269	111214269	+	Splice_Site	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:111214269G>A	ENST00000368885.3	+	8	1200		c.e8+1		AMD1_ENST00000451850.2_Splice_Site|AMD1_ENST00000368877.5_Splice_Site|AMD1_ENST00000368882.3_Splice_Site|AMD1_ENST00000368876.1_Splice_Site	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1						cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGTTAATCAGGtaattttata	0.323																																						uc003puk.1																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.e8+1		adenosylmethionine decarboxylase 1 isoform 1	S-Adenosylmethionine(DB00118)						49.0	52.0	51.0					6																	111214269		2203	4296	6499	SO:0001630	splice_region_variant	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111214269G>A	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.864+1G>A	6.37:g.111214269G>A						AMD1_uc011eay.1_Splice_Site_p.Q219_splice|AMD1_uc011eaz.1_Splice_Site_p.Q259_splice|AMD1_uc011eba.1_Splice_Site_p.Q168_splice|AMD1_uc003pul.1_Splice_Site_p.Q140_splice	p.Q288_splice	NM_001634	NP_001625	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	8	1186	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)						E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Splice_Site	SNP	ENST00000368885.3	37	c.864_splice	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370933	0.42003	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7581	0.88456	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMD1	111320962	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.299000	0.78831	2.266000	0.75297	0.407000	0.27541	.		PASS	0.323	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1		Intron	16	36	16	36	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117246638	117246638	+	Silent	SNP	T	T	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:117246638T>A	ENST00000332958.2	+	16	1717	c.1701T>A	c.(1699-1701)acT>acA	p.T567T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	567					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.T567T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGCTTTCACTGCTTCTCCGA	0.418																																						uc003pxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1699-1701)ACT>ACA		regulatory factor X, 6							128.0	131.0	130.0					6																	117246638		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117246638T>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1701T>A	6.37:g.117246638T>A							p.T567T	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			16	1764	+			567					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.1701T>A	CCDS5113.1																																																																																				PASS	0.418	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		40	108	40	108	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129468139	129468139	+	Silent	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:129468139G>C	ENST00000421865.2	+	6	904	c.855G>C	c.(853-855)ggG>ggC	p.G285G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	285	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.G285G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGTTGGAGGGATGTGCATCT	0.433																																						uc003qbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(853-855)GGG>GGC		laminin alpha 2 subunit isoform a precursor							236.0	217.0	223.0					6																	129468139		2203	4299	6502	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129468139G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.855G>C	6.37:g.129468139G>C						LAMA2_uc003qbo.2_Silent_p.G285G	p.G285G	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	6	960	+			285			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.855G>C	CCDS5138.1																																																																																				PASS	0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			60	148	60	148	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130505655	130505655	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:130505655G>C	ENST00000368134.2	-	8	1105	c.497C>G	c.(496-498)cCg>cGg	p.P166R	SAMD3_ENST00000437477.2_Missense_Mutation_p.P166R|SAMD3_ENST00000457563.2_Missense_Mutation_p.P190R|SAMD3_ENST00000439090.2_Missense_Mutation_p.P166R|SAMD3_ENST00000532763.1_Missense_Mutation_p.P164R|SAMD3_ENST00000324172.6_Missense_Mutation_p.P166R|SAMD3_ENST00000533296.1_5'UTR	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	166								p.P166R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GCTGTGATCCGGGCACTTCTG	0.458																																						uc003qbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)CCG>CGG		sterile alpha motif domain containing 3 isoform							131.0	113.0	119.0					6																	130505655		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130505655G>C	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.497C>G	6.37:g.130505655G>C	ENSP00000357116:p.Pro166Arg					SAMD3_uc003qbx.2_Missense_Mutation_p.P166R|SAMD3_uc003qbw.2_Missense_Mutation_p.P166R|SAMD3_uc010kfg.1_Missense_Mutation_p.P166R|SAMD3_uc003qby.2_Missense_Mutation_p.P166R|SAMD3_uc003qbz.1_Missense_Mutation_p.P125R	p.P166R	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	823	-			166					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.497C>G	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718722	0.48622	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.69561	0.83;0.81;0.83;0.83;0.8;-0.14;-0.13;-0.41;-0.21	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.79040	0.4379	M	0.73598	2.24	0.50171	D	0.999854	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	T	0.81004	-0.1129	10	0.87932	D	0	.	16.9075	0.86132	0.0:0.0:1.0:0.0	.	190;165;166;166	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	R	166;190;166;166;164;166;165;166;163	ENSP00000357116:P166R;ENSP00000402092:P190R;ENSP00000403565:P166R;ENSP00000391163:P166R;ENSP00000436088:P164R;ENSP00000324874:P166R;ENSP00000436115:P165R;ENSP00000435875:P166R;ENSP00000434139:P163R	ENSP00000324874:P166R	P	-	2	0	SAMD3	130547348	1.000000	0.71417	0.966000	0.40874	0.153000	0.21895	6.390000	0.73204	2.662000	0.90505	0.655000	0.94253	CCG		PASS	0.458	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		21	55	21	55	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143094043	143094043	+	Silent	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:143094043A>G	ENST00000367604.1	-	4	2472	c.1833T>C	c.(1831-1833)caT>caC	p.H611H	HIVEP2_ENST00000012134.2_Silent_p.H611H|HIVEP2_ENST00000367603.2_Silent_p.H611H			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H611H(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACATCCTGCCATGGTGCTCGA	0.542																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1831-1833)CAT>CAC		human immunodeficiency virus type I enhancer							107.0	104.0	105.0					6																	143094043		2054	4203	6257	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094043A>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1833T>C	6.37:g.143094043A>G							p.H611H	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	2576	-			611					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.1833T>C	CCDS43510.1																																																																																				PASS	0.542	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			81	115	81	115	---	---	---	---
TAGAP	117289	broad.mit.edu	37	6	159462507	159462507	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:159462507T>G	ENST00000367066.3	-	6	687	c.356A>C	c.(355-357)gAa>gCa	p.E119A	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.E119A	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	119	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E119A(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GAATATCCCTTCCGTTGAAGG	0.498																																						uc003qrz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)GAA>GCA		T-cell activation Rho GTPase-activating protein							61.0	55.0	57.0					6																	159462507		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159462507T>G	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.356A>C	6.37:g.159462507T>G	ENSP00000356033:p.Glu119Ala					TAGAP_uc011eft.1_Missense_Mutation_p.E56A|TAGAP_uc003qsa.2_5'UTR|TAGAP_uc003qsb.2_Missense_Mutation_p.E119A|uc003qsc.2_5'Flank	p.E119A	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	6	688	-		Breast(66;0.000776)|Ovarian(120;0.0303)	119			Rho-GAP.		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.356A>C	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318513	0.81469	.	.	ENSG00000164691	ENST00000367066;ENST00000338313	T;T	0.33654	1.4;1.4	5.66	5.66	0.87406	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.65407	0.2688	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.76547	-0.2919	10	0.66056	D	0.02	-32.5715	15.558	0.76216	0.0:0.0:0.0:1.0	.	119;119	Q8N103-4;Q8N103	.;TAGAP_HUMAN	A	119	ENSP00000356033:E119A;ENSP00000340217:E119A	ENSP00000340217:E119A	E	-	2	0	TAGAP	159382495	1.000000	0.71417	0.957000	0.39632	0.770000	0.43624	5.089000	0.64492	2.163000	0.67991	0.460000	0.39030	GAA		PASS	0.498	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		11	41	11	41	---	---	---	---
FERD3L	222894	broad.mit.edu	37	7	19184904	19184904	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:19184904G>T	ENST00000275461.3	-	1	140	c.82C>A	c.(82-84)Cct>Act	p.P28T	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	28					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P28T(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CAGAGGAGAGGGCGTCTCGGG	0.677																																						uc003suo.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(82-84)CCT>ACT		nephew of atonal 3							38.0	36.0	36.0					7																	19184904		2202	4300	6502	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184904G>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.82C>A	7.37:g.19184904G>T	ENSP00000275461:p.Pro28Thr					uc003sun.1_RNA	p.P28T	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	141	-			28					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.82C>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349492	0.24426	.	.	ENSG00000146618	ENST00000275461	D	0.96522	-4.04	5.66	2.88	0.33553	.	0.129929	0.35291	N	0.003304	D	0.91040	0.7181	N	0.24115	0.695	0.09310	N	1	B	0.23377	0.084	B	0.28139	0.086	D	0.84265	0.0485	10	0.66056	D	0.02	-9.3269	5.6563	0.17644	0.225:0.0:0.6395:0.1354	.	28	Q96RJ6	FER3L_HUMAN	T	28	ENSP00000275461:P28T	ENSP00000275461:P28T	P	-	1	0	FERD3L	19151429	0.874000	0.30092	0.772000	0.31596	0.637000	0.38172	1.855000	0.39378	0.768000	0.33290	-0.142000	0.14014	CCT		PASS	0.677	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			27	62	27	62	---	---	---	---
KBTBD2	25948	broad.mit.edu	37	7	32909450	32909450	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:32909450G>T	ENST00000304056.4	-	4	2078	c.1379C>A	c.(1378-1380)tCc>tAc	p.S460Y	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	460								p.S460Y(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGAAGCAAAGGACCTACTAGT	0.428																																						uc003tdb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1378-1380)TCC>TAC		kelch repeat and BTB (POZ) domain containing 2							65.0	64.0	65.0					7																	32909450		2203	4299	6502	SO:0001583	missense	25948							g.chr7:32909450G>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1379C>A	7.37:g.32909450G>T	ENSP00000302586:p.Ser460Tyr					AVL9_uc011kai.1_Intron	p.S460Y	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	2038	-			460			Kelch 3.		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1379C>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899362	0.33535	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.80824	-1.42	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.046557	0.85682	D	0.000000	T	0.74412	0.3713	L	0.32530	0.975	0.45403	D	0.998385	B	0.31611	0.331	B	0.35039	0.194	T	0.74705	-0.3575	10	0.59425	D	0.04	.	14.3339	0.66576	0.0:0.2642:0.7358:0.0	.	460	Q8IY47	KBTB2_HUMAN	Y	460;262	ENSP00000302586:S460Y	ENSP00000302586:S460Y	S	-	2	0	KBTBD2	32875975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.882000	0.75589	2.709000	0.92574	0.491000	0.48974	TCC		PASS	0.428	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		10	85	10	85	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43484785	43484785	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:43484785G>T	ENST00000395891.2	+	11	2619	c.2014G>T	c.(2014-2016)Ggc>Tgc	p.G672C	HECW1_ENST00000453890.1_Missense_Mutation_p.G672C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	672	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G651C(1)|p.G672C(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGTTGCGAGGGCTGTGACGC	0.687																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2014-2016)GGC>TGC		NEDD4-like ubiquitin-protein ligase 1							24.0	30.0	28.0					7																	43484785		2147	4230	6377	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484785G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2014G>T	7.37:g.43484785G>T	ENSP00000379228:p.Gly672Cys					HECW1_uc011kbi.1_Missense_Mutation_p.G672C	p.G672C	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2619	+			672			Cys-rich.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2014G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077132	0.36662	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.32753	1.44;1.49	4.51	4.51	0.55191	.	0.422463	0.31156	N	0.008154	T	0.22399	0.0540	L	0.40543	1.245	0.25918	N	0.983145	P;P	0.50710	0.938;0.938	B;B	0.40101	0.319;0.319	T	0.16364	-1.0405	10	0.39692	T	0.17	.	8.4185	0.32685	0.1762:0.0:0.8238:0.0	.	672;672	B4DH42;Q76N89	.;HECW1_HUMAN	C	672	ENSP00000379228:G672C;ENSP00000407774:G672C	ENSP00000265522:G672C	G	+	1	0	HECW1	43451310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.412000	0.34714	2.045000	0.60652	0.563000	0.77884	GGC		PASS	0.687	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		22	39	22	39	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103631	53103631	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:53103631G>A	ENST00000408890.4	+	1	283	c.267G>A	c.(265-267)ccG>ccA	p.P89P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	89								p.P89P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGCCAAGCCGCAGCGGGTGG	0.697																																						uc003tpz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(265-267)CCG>CCA		POM121 membrane glycoprotein-like 12							14.0	17.0	16.0					7																	53103631		1855	4063	5918	SO:0001819	synonymous_variant	285877							g.chr7:53103631G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.267G>A	7.37:g.53103631G>A							p.P89P	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	283	+			89					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.267G>A	CCDS43584.1																																																																																				PASS	0.697	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		8	22	8	22	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82581908	82581908	+	Silent	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:82581908A>T	ENST00000333891.9	-	5	8698	c.8361T>A	c.(8359-8361)ccT>ccA	p.P2787P	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Silent_p.P2787P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P2787P(2)|p.P2718P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCAGAGATACAGGAGTCACTA	0.428																																						uc003uhx.2																			3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(8359-8361)CCT>CCA		piccolo isoform 1							178.0	159.0	165.0					7																	82581908		1981	4154	6135	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581908A>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8361T>A	7.37:g.82581908A>T						PCLO_uc003uhv.2_Silent_p.P2787P|PCLO_uc010lec.2_5'Flank	p.P2787P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	8650	-			2718						Silent	SNP	ENST00000333891.9	37	c.8361T>A	CCDS47630.1																																																																																				PASS	0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	62	18	62	---	---	---	---
CROT	54677	broad.mit.edu	37	7	87005150	87005150	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:87005150G>C	ENST00000331536.3	+	9	942	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	CROT_ENST00000442291.1_Missense_Mutation_p.E253Q|CROT_ENST00000419147.2_Missense_Mutation_p.E281Q	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	253					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.E253Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTAGGCACGAGAATATCTGAT	0.353																																						uc003uit.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(757-759)GAA>CAA		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						81.0	80.0	81.0					7																	87005150		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87005150G>C		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.757G>C	7.37:g.87005150G>C	ENSP00000331981:p.Glu253Gln					CROT_uc003uiu.2_Missense_Mutation_p.E281Q	p.E253Q	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			9	1002	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		253					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.757G>C	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981212	0.53827	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88818	-2.43;-2.43;-2.43	5.48	5.48	0.80851	.	0.180746	0.64402	D	0.000017	D	0.90484	0.7019	L	0.47016	1.485	0.58432	D	0.999991	P;P	0.50066	0.931;0.574	P;B	0.55713	0.782;0.358	D	0.86525	0.1818	10	0.14252	T	0.57	-17.6455	19.7112	0.96096	0.0:0.0:1.0:0.0	.	281;253	E7EQF2;Q9UKG9	.;OCTC_HUMAN	Q	281;253;253	ENSP00000413575:E281Q;ENSP00000331981:E253Q;ENSP00000411983:E253Q	ENSP00000331981:E253Q	E	+	1	0	CROT	86843086	1.000000	0.71417	0.995000	0.50966	0.333000	0.28666	5.425000	0.66470	2.722000	0.93159	0.655000	0.94253	GAA		PASS	0.353	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		16	42	16	42	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964013	88964013	+	Silent	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:88964013T>C	ENST00000333190.4	+	4	2326	c.1717T>C	c.(1717-1719)Ttg>Ctg	p.L573L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	573							metal ion binding (GO:0046872)	p.L573L(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCAAATGATTTGGAAATGAA	0.353										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1717-1719)TTG>CTG		zinc finger protein 804B							44.0	47.0	46.0					7																	88964013		2200	4297	6497	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88964013T>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1717T>C	7.37:g.88964013T>C		HNSCC(36;0.09)					p.L573L	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2255	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		573					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1717T>C	CCDS5613.1																																																																																				PASS	0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		19	29	19	29	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103191531	103191531	+	Silent	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:103191531C>T	ENST00000428762.1	-	41	6444	c.6285G>A	c.(6283-6285)ggG>ggA	p.G2095G	RELN_ENST00000343529.5_Silent_p.G2095G|RELN_ENST00000424685.2_Silent_p.G2095G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2095					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G2095G(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGCAGCTTCCCAAAGTGCA	0.542																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6283-6285)GGG>GGA		reelin isoform a							55.0	41.0	45.0					7																	103191531		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191531C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6285G>A	7.37:g.103191531C>T						RELN_uc010liz.2_Silent_p.G2095G	p.G2095G	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6445	-			2095					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.6285G>A	CCDS47680.1																																																																																				PASS	0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	25	16	25	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107338519	107338519	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:107338519G>T	ENST00000265715.3	+	14	1801	c.1577G>T	c.(1576-1578)aGc>aTc	p.S526I	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S95I|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S113I|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S87I	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	526					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.S526I(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGCATCCCTAGCACAGATATC	0.378									Pendred syndrome																													uc003vep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1576-1578)AGC>ATC		pendrin							109.0	102.0	104.0					7																	107338519		2203	4300	6503	SO:0001583	missense	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107338519G>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1577G>T	7.37:g.107338519G>T	ENSP00000265715:p.Ser526Ile					SLC26A4_uc011kmb.1_Missense_Mutation_p.S113I|SLC26A4_uc011kmc.1_Missense_Mutation_p.S87I|SLC26A4_uc011kmd.1_Missense_Mutation_p.S95I	p.S526I	NM_000441	NP_000432	O43511	S26A4_HUMAN			14	1801	+			526			Cytoplasmic (Potential).		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1577G>T	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693323	0.48202	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94687	-3.19;-3.41;-3.48;-3.49	5.96	0.669	0.17918	.	0.503008	0.24599	N	0.037142	D	0.89058	0.6607	L	0.39898	1.24	0.29561	N	0.850617	B;B;B	0.32071	0.355;0.242;0.044	B;B;B	0.29267	0.1;0.05;0.058	T	0.82414	-0.0469	10	0.59425	D	0.04	.	8.3593	0.32348	0.1377:0.356:0.5063:0.0	.	87;113;526	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	I	526;87;113;95	ENSP00000265715:S526I;ENSP00000439743:S87I;ENSP00000437427:S113I;ENSP00000441209:S95I	ENSP00000265715:S526I	S	+	2	0	SLC26A4	107125755	1.000000	0.71417	0.311000	0.25182	0.972000	0.66771	1.437000	0.34991	-0.133000	0.11537	0.655000	0.94253	AGC		PASS	0.378	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		7	50	7	50	---	---	---	---
FEZF1	389549	broad.mit.edu	37	7	121943744	121943744	+	Nonsense_Mutation	SNP	G	G	A	rs541060829	byFrequency	TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:121943744G>A	ENST00000442488.2	-	1	815	c.748C>T	c.(748-750)Cga>Tga	p.R250*	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Nonsense_Mutation_p.R250*|FEZF1_ENST00000427185.2_Nonsense_Mutation_p.R200*	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	250					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.R250*(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGAGAGCCTCGGCTGAAATCC	0.493																																						uc003vkd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(748-750)CGA>TGA		FEZ family zinc finger 1 isoform 1							122.0	133.0	129.0					7																	121943744		2203	4300	6503	SO:0001587	stop_gained	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943744G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.748C>T	7.37:g.121943744G>A	ENSP00000411145:p.Arg250*					FEZF1_uc003vkc.2_Nonsense_Mutation_p.R200*|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.R250*	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	822	-			250					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Nonsense_Mutation	SNP	ENST00000442488.2	37	c.748C>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	g	32	5.161917	0.94727	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	.	.	.	5.19	4.29	0.51040	.	0.127115	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-9.7805	13.1369	0.59413	0.0:0.0:0.7086:0.2913	.	.	.	.	X	250;250;200	.	ENSP00000332777:R250X	R	-	1	2	FEZF1	121730980	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	1.622000	0.36997	1.297000	0.44761	0.544000	0.68410	CGA		PASS	0.493	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		20	159	20	159	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148801944	148801944	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr7:148801944C>A	ENST00000378061.2	-	4	1151	c.1019G>T	c.(1018-1020)cGc>cTc	p.R340L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R340L(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTCTTCAGGCGGAAGCACCG	0.662																																						uc003wfj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1018-1020)CGC>CTC		zinc finger protein 425							45.0	43.0	44.0					7																	148801944		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801944C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1019G>T	7.37:g.148801944C>A	ENSP00000367300:p.Arg340Leu						p.R340L	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1092	-	Melanoma(164;0.15)		340			C2H2-type 5.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1019G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236538	0.79800	.	.	ENSG00000204947	ENST00000378061	T	0.14766	2.48	3.42	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	L	0.28014	0.82	0.09310	N	0.999999	B	0.26195	0.144	B	0.31016	0.123	T	0.30822	-0.9965	9	0.44086	T	0.13	.	8.325	0.32151	0.0:0.8781:0.0:0.1219	.	340	Q6IV72	ZN425_HUMAN	L	340	ENSP00000367300:R340L	ENSP00000367300:R340L	R	-	2	0	ZNF425	148432877	0.000000	0.05858	0.823000	0.32752	0.991000	0.79684	-0.291000	0.08343	0.775000	0.33450	0.655000	0.94253	CGC		PASS	0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		15	48	15	48	---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1846692	1846692	+	Splice_Site	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:1846692G>C	ENST00000398564.1	+	15	1725		c.e15+1		ARHGEF10_ENST00000520359.1_Splice_Site|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000262112.6_Splice_Site|ARHGEF10_ENST00000398560.1_Splice_Site|ARHGEF10_ENST00000518288.1_Splice_Site			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10						centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(2)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCTGCTCCAGGTAAGTGCTTC	0.572																																						uc003wpr.2																			2	Unknown(2)		lung(2)	large_intestine(1)	1						c.e15+1		Rho guanine nucleotide exchange factor 10							141.0	88.0	106.0					8																	1846692		2203	4300	6503	SO:0001630	splice_region_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1846692G>C	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1725+1G>C	8.37:g.1846692G>C						ARHGEF10_uc003wpq.1_Splice_Site_p.Q574_splice|ARHGEF10_uc003wps.2_Splice_Site_p.Q512_splice|ARHGEF10_uc003wpt.2_Splice_Site_p.Q426_splice|ARHGEF10_uc003wpv.2_Splice_Site_p.Q283_splice|ARHGEF10_uc010lre.2_Splice_Site_p.Q230_splice	p.Q550_splice	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	15	1828	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)						O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Splice_Site	SNP	ENST00000398564.1	37	c.1650_splice		.	.	.	.	.	.	.	.	.	.	G	22.4	4.285441	0.80803	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6802	0.88240	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF10	1834099	1.000000	0.71417	0.989000	0.46669	0.936000	0.57629	8.968000	0.93407	2.133000	0.65898	0.650000	0.86243	.		PASS	0.572	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			Intron	9	22	9	22	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9623794	9623794	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:9623794G>A	ENST00000310430.6	+	25	3625	c.3599G>A	c.(3598-3600)cGa>cAa	p.R1200Q	TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1200	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R1200Q(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTGATGAGCGACATGCATAC	0.383																																						uc003wss.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|kidney(1)	7						c.(3598-3600)CGA>CAA		tankyrase, TRF1-interacting ankyrin-related							105.0	104.0	104.0					8																	9623794		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9623794G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3599G>A	8.37:g.9623794G>A	ENSP00000311579:p.Arg1200Gln					TNKS_uc011kww.1_Missense_Mutation_p.R963Q	p.R1200Q	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	25	3604	+			1200			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3599G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	36	5.633902	0.96682	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14266	2.52;2.52	5.98	5.98	0.97165	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	P	0.49192	0.602	T	0.02093	-1.1215	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1200	O95271	TNKS1_HUMAN	Q	1200;963	ENSP00000311579:R1200Q;ENSP00000429890:R963Q	ENSP00000311579:R1200Q	R	+	2	0	TNKS	9661204	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	CGA		PASS	0.383	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		37	91	37	91	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20036923	20036923	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:20036923G>T	ENST00000276373.5	-	3	463	c.197C>A	c.(196-198)gCc>gAc	p.A66D	SLC18A1_ENST00000440926.1_Missense_Mutation_p.A66D|SLC18A1_ENST00000519026.1_Missense_Mutation_p.A66D|SLC18A1_ENST00000381608.4_Missense_Mutation_p.A66D|SLC18A1_ENST00000437980.1_Missense_Mutation_p.A66D|SLC18A1_ENST00000265808.7_Missense_Mutation_p.A66D	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	66					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.A66D(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GGAACTTCCGGCATGGCCGAG	0.512																																						uc011kyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(196-198)GCC>GAC		solute carrier family 18 (vesicular monoamine),							93.0	74.0	80.0					8																	20036923		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20036923G>T		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.197C>A	8.37:g.20036923G>T	ENSP00000276373:p.Ala66Asp					SLC18A1_uc003wzm.2_Missense_Mutation_p.A66D|SLC18A1_uc011kyr.1_Missense_Mutation_p.A66D|SLC18A1_uc003wzn.2_Missense_Mutation_p.A66D|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.A66D	p.A66D	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	4	668	-			66			Lumenal, vesicle (Potential).		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.197C>A	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	4.831	0.154520	0.09236	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.04406	3.92;3.92;3.92;3.91;3.92;3.91;3.63	5.54	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.699926	0.14902	N	0.291725	T	0.05686	0.0149	L	0.54323	1.7	0.09310	N	1	B;B;B	0.27316	0.006;0.175;0.112	B;B;B	0.28465	0.013;0.09;0.033	T	0.37865	-0.9687	10	0.11485	T	0.65	-4.9181	8.7615	0.34678	0.0892:0.1663:0.7444:0.0	.	66;66;66	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	D	66	ENSP00000265808:A66D;ENSP00000276373:A66D;ENSP00000387549:A66D;ENSP00000413361:A66D;ENSP00000429664:A66D;ENSP00000371021:A66D;ENSP00000428999:A66D	ENSP00000265808:A66D	A	-	2	0	SLC18A1	20081203	0.001000	0.12720	0.006000	0.13384	0.003000	0.03518	0.806000	0.27126	2.610000	0.88304	0.655000	0.94253	GCC		PASS	0.512	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			16	46	16	46	---	---	---	---
ELP3	55140	broad.mit.edu	37	8	27989839	27989839	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:27989839A>G	ENST00000256398.8	+	9	1201	c.824A>G	c.(823-825)aAa>aGa	p.K275R	ELP3_ENST00000537665.1_Missense_Mutation_p.K156R|ELP3_ENST00000524103.1_Missense_Mutation_p.K203R|ELP3_ENST00000380353.4_Missense_Mutation_p.K183R|ELP3_ENST00000542181.1_Missense_Mutation_p.K146R|ELP3_ENST00000521015.1_Missense_Mutation_p.K261R	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	275					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)	p.K275R(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CACCTGGCCAAAGATTCCGGT	0.453																																						uc003xgo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)AAA>AGA		elongation protein 3 homolog							129.0	111.0	117.0					8																	27989839		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27989839A>G		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.824A>G	8.37:g.27989839A>G	ENSP00000256398:p.Lys275Arg					ELP3_uc003xgn.3_Missense_Mutation_p.K260R|ELP3_uc011laq.1_Missense_Mutation_p.K203R|ELP3_uc011lar.1_Missense_Mutation_p.K183R|ELP3_uc011las.1_Missense_Mutation_p.K156R|ELP3_uc011lat.1_Missense_Mutation_p.K156R	p.K275R	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	9	972	+		Ovarian(32;0.0218)	275					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.824A>G	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508928	0.64410	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	T;T;T;T;T;T	0.21543	2.14;2.14;2.25;2.14;2.25;2.0	5.26	5.26	0.73747	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.53780	1.695	0.80722	D	1	P;P	0.41041	0.736;0.707	P;P	0.50754	0.649;0.534	T	0.02901	-1.1096	10	0.16896	T	0.51	-22.6386	13.422	0.61003	1.0:0.0:0.0:0.0	.	156;275	B4DE19;Q9H9T3	.;ELP3_HUMAN	R	261;275;146;203;156;183	ENSP00000428449:K261R;ENSP00000256398:K275R;ENSP00000439242:K146R;ENSP00000429180:K203R;ENSP00000445558:K156R;ENSP00000369711:K183R	ENSP00000256398:K275R	K	+	2	0	ELP3	28045758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.029000	0.93718	2.100000	0.63781	0.455000	0.32223	AAA		PASS	0.453	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		9	27	9	27	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39602414	39602414	+	Splice_Site	SNP	T	T	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:39602414T>A	ENST00000265708.4	-	20	2278		c.e20-2		ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCAGGTTGCCTGCatattaaa	0.299																																						uc003xnj.2																			2	Unknown(2)		ovary(1)|lung(1)	ovary(1)|lung(1)	2						c.e20-1		ADAM metallopeptidase domain 2 proprotein							65.0	74.0	71.0					8																	39602414		2203	4300	6503	SO:0001630	splice_region_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39602414T>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2175-2A>T	8.37:g.39602414T>A						ADAM2_uc003xnk.2_Splice_Site_p.E706_splice|ADAM2_uc011lck.1_Splice_Site_p.E662_splice|ADAM2_uc003xnl.2_Splice_Site_p.E569_splice	p.E725_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	20	2250	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)						P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	c.2175_splice	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	6.517	0.463679	0.12402	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6212	0.33861	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM2	39721571	0.973000	0.33851	0.909000	0.35828	0.012000	0.07955	2.517000	0.45529	1.807000	0.52817	0.477000	0.44152	.		PASS	0.299	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Intron	12	47	12	47	---	---	---	---
C8orf22	492307	broad.mit.edu	37	8	49986797	49986797	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:49986797G>C	ENST00000303202.8	+	4	311	c.138G>C	c.(136-138)ttG>ttC	p.L46F	C8orf22_ENST00000522267.1_Missense_Mutation_p.L46F|C8orf22_ENST00000399653.4_Missense_Mutation_p.L46F|C8orf22_ENST00000517663.1_Missense_Mutation_p.L46F	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	46					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)			p.L46F(1)		large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TAATAGGGTTGCCTGAAGTGG	0.333																																						uc003xqq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)TTG>TTC		hypothetical protein LOC492307							76.0	70.0	72.0					8																	49986797		1820	4073	5893	SO:0001583	missense	492307							g.chr8:49986797G>C	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.138G>C	8.37:g.49986797G>C	ENSP00000304926:p.Leu46Phe						p.L46F	NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN			4	321	+		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	46					G3V137|Q8WVI1	Missense_Mutation	SNP	ENST00000303202.8	37	c.138G>C	CCDS59101.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078200	0.36662	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.22	0.421	0.16451	.	0.201708	0.24048	N	0.042026	T	0.18002	0.0432	.	.	.	0.09310	N	1	B	0.24533	0.105	B	0.25759	0.063	T	0.12477	-1.0546	7	.	.	.	-7.3741	3.0905	0.06293	0.5209:0.2242:0.2548:0.0	.	46	Q8WWR9-2	.	F	46	.	.	L	+	3	2	C8orf22	50149350	0.006000	0.16342	0.097000	0.21041	0.769000	0.43574	0.299000	0.19138	0.061000	0.16311	-0.471000	0.05019	TTG		PASS	0.333	C8orf22-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377837.1	NM_001007176		14	25	14	25	---	---	---	---
TERF1	7013	broad.mit.edu	37	8	73926132	73926132	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:73926132A>G	ENST00000276603.5	+	2	345	c.322A>G	c.(322-324)Att>Gtt	p.I108V	TERF1_ENST00000276602.6_Missense_Mutation_p.I108V	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	108	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)	p.I108V(2)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTTTTTAGCTATTATTCATGG	0.323																																						uc003xzd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(322-324)ATT>GTT		telomeric repeat binding factor 1 isoform 1							39.0	42.0	41.0					8																	73926132		2194	4293	6487	SO:0001583	missense	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73926132A>G	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.322A>G	8.37:g.73926132A>G	ENSP00000276603:p.Ile108Val					TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.I108V	p.I108V	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		2	347	+	Breast(64;0.218)		108			TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.322A>G	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	A	8.915	0.959770	0.18507	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000517390;ENST00000538958	.	.	.	5.06	2.68	0.31781	Telomere repeat-binding factor, dimerisation domain (4);	0.182039	0.46145	N	0.000319	T	0.45236	0.1332	L	0.48362	1.52	0.43088	D	0.994753	B;B	0.14805	0.005;0.011	B;B	0.12837	0.008;0.006	T	0.24225	-1.0166	9	0.28530	T	0.3	.	7.341	0.26637	0.8205:0.0:0.1795:0.0	.	108;108	P54274-2;P54274	.;TERF1_HUMAN	V	108;108;4;4	.	ENSP00000276602:I108V	I	+	1	0	TERF1	74088686	0.999000	0.42202	0.999000	0.59377	0.905000	0.53344	0.520000	0.22878	0.371000	0.24564	0.254000	0.18369	ATT		PASS	0.323	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		6	19	6	19	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87591048	87591048	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:87591048G>T	ENST00000320005.5	-	17	2019	c.1972C>A	c.(1972-1974)Cca>Aca	p.P658T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	658					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.P658T(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTTTTCTTGGAGGGGTTGCT	0.458																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1972-1974)CCA>ACA		cyclic nucleotide gated channel beta 3							122.0	124.0	123.0					8																	87591048		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87591048G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1972C>A	8.37:g.87591048G>T	ENSP00000316605:p.Pro658Thr					CNGB3_uc010maj.2_Missense_Mutation_p.P515T	p.P658T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			17	2018	-			658			Cytoplasmic (Potential).|cGMP (By similarity).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1972C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	5.799	0.331707	0.10956	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	T;T	0.75938	-0.98;0.14	5.3	4.42	0.53409	.	0.547689	0.17465	N	0.173300	T	0.66167	0.2762	L	0.32530	0.975	0.09310	N	1	P;P	0.37985	0.613;0.478	B;B	0.41271	0.352;0.191	T	0.55636	-0.8110	10	0.30078	T	0.28	.	11.4623	0.50217	0.0:0.3564:0.52:0.1236	.	653;658	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	49;658	ENSP00000428329:P49T;ENSP00000316605:P658T	ENSP00000316605:P658T	P	-	1	0	CNGB3	87660164	0.955000	0.32602	0.417000	0.26559	0.337000	0.28794	2.359000	0.44142	1.215000	0.43411	0.467000	0.42956	CCA		PASS	0.458	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		29	78	29	78	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113304884	113304884	+	Silent	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:113304884C>A	ENST00000297405.5	-	55	8914	c.8670G>T	c.(8668-8670)ggG>ggT	p.G2890G	CSMD3_ENST00000343508.3_Silent_p.G2850G|CSMD3_ENST00000352409.3_Silent_p.G2820G|CSMD3_ENST00000455883.2_Silent_p.G2721G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2890	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2890G(1)|p.G2850G(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAAGTTGAACCCATTTCCAC	0.448										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8668-8670)GGG>GGT		CUB and Sushi multiple domains 3 isoform 1							159.0	130.0	140.0					8																	113304884		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113304884C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8670G>T	8.37:g.113304884C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G2092G|CSMD3_uc003ynt.2_Silent_p.G2850G|CSMD3_uc011lhx.1_Silent_p.G2721G	p.G2890G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			55	8829	-			2890			Extracellular (Potential).|Sushi 19.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.8670G>T	CCDS6315.1																																																																																				PASS	0.448	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		29	67	29	67	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143560803	143560803	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr8:143560803G>A	ENST00000517894.1	+	8	2575	c.1681G>A	c.(1681-1683)Ggc>Agc	p.G561S	BAI1_ENST00000323289.5_Missense_Mutation_p.G561S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	561	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G561S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCCTGCCAGGGCCCCCAGGA	0.711																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(1681-1683)GGC>AGC		brain-specific angiogenesis inhibitor 1							12.0	18.0	16.0					8																	143560803		1993	4142	6135	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143560803G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1681G>A	8.37:g.143560803G>A	ENSP00000430945:p.Gly561Ser						p.G561S	NM_001702	NP_001693	O14514	BAI1_HUMAN			7	1864	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		561			Extracellular (Potential).|TSP type-1 5.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1681G>A		.	.	.	.	.	.	.	.	.	.	g	27.8	4.859948	0.91433	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.56275	0.47;0.47	4.98	4.11	0.48088	.	0.068934	0.56097	N	0.000021	T	0.73337	0.3574	M	0.90198	3.095	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.75266	-0.3378	10	0.62326	D	0.03	.	7.6842	0.28530	0.0836:0.0:0.7551:0.1613	.	561	E9PBK0	.	S	561	ENSP00000430945:G561S;ENSP00000313046:G561S	ENSP00000313046:G561S	G	+	1	0	BAI1	143557805	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.633000	0.83260	1.102000	0.41551	0.457000	0.33378	GGC		PASS	0.711	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	11	5	11	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27229204	27229204	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr9:27229204G>C	ENST00000380036.4	+	23	3791	c.3349G>C	c.(3349-3351)Gac>Cac	p.D1117H	TEK_ENST00000519097.1_Missense_Mutation_p.D969H|TEK_ENST00000406359.4_Missense_Mutation_p.D1074H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1117					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D1117H(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGCAGGAATTGACTGTTCTGC	0.458																																						uc003zqi.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(3349-3351)GAC>CAC		TEK tyrosine kinase, endothelial precursor							186.0	168.0	174.0					9																	27229204		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27229204G>C	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3349G>C	9.37:g.27229204G>C	ENSP00000369375:p.Asp1117His					TEK_uc011lno.1_Missense_Mutation_p.D1074H|TEK_uc011lnp.1_Missense_Mutation_p.D969H	p.D1117H	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	23	3791	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1117			Cytoplasmic (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.3349G>C	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585572	0.86748	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.76316	-0.97;-1.01;-0.98	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000047	D	0.82646	0.5082	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.994	D	0.84954	0.0873	10	0.87932	D	0	.	18.8488	0.92218	0.0:0.0:1.0:0.0	.	969;1150;1117	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	H	969;1117;1074	ENSP00000430686:D969H;ENSP00000369375:D1117H;ENSP00000383977:D1074H	ENSP00000369375:D1117H	D	+	1	0	TEK	27219204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.609000	0.90898	2.565000	0.86533	0.655000	0.94253	GAC		PASS	0.458	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			41	64	41	64	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90502148	90502148	+	Missense_Mutation	SNP	G	G	T	rs534423157		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr9:90502148G>T	ENST00000325643.5	+	4	2812	c.2746G>T	c.(2746-2748)Gtg>Ttg	p.V916L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	916					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V916L(1)									AGTCCCGACCGTGAGTGGCCC	0.587																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2746-2748)GTG>TTG		chromosome 9 open reading frame 79							52.0	54.0	53.0					9																	90502148		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90502148G>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2746G>T	9.37:g.90502148G>T	ENSP00000322640:p.Val916Leu					C9orf79_uc004apo.1_Missense_Mutation_p.V728L	p.V916L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2781	+			916					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2746G>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.317287	0.00235	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.02280	4.36	2.43	-4.86	0.03132	.	2.373720	0.02616	N	0.102630	T	0.00998	0.0033	N	0.02916	-0.46	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.43750	-0.9372	10	0.02654	T	1	.	6.6213	0.22804	0.0:0.1663:0.5081:0.3256	.	916;568	Q6ZUB1;Q8NA33	CI079_HUMAN;.	L	916;568	ENSP00000322640:V916L	ENSP00000322640:V916L	V	+	1	0	C9orf79	89691968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.975000	0.01498	-2.367000	0.00605	-1.371000	0.01190	GTG		PASS	0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		9	51	9	51	---	---	---	---
TRIM14	9830	broad.mit.edu	37	9	100881413	100881413	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr9:100881413A>G	ENST00000341469.2	-	1	67	c.58T>C	c.(58-60)Tgc>Cgc	p.C20R	TRIM14_ENST00000342043.3_Missense_Mutation_p.C20R|TRIM14_ENST00000375098.3_Missense_Mutation_p.C20R	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	20					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.C20R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CGCCAGCCGCATCCCTCGACA	0.746																																					Colon(14;460 597 13826 51781)	uc004ayd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(58-60)TGC>CGC		tripartite motif protein TRIM14 isoform alpha							13.0	15.0	14.0					9																	100881413		1948	4059	6007	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100881413A>G	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.58T>C	9.37:g.100881413A>G	ENSP00000344208:p.Cys20Arg					TRIM14_uc004ayf.1_5'UTR|TRIM14_uc004ayg.1_Missense_Mutation_p.C20R|TRIM14_uc004ayh.1_Missense_Mutation_p.C20R|TRIM14_uc004ayi.1_Missense_Mutation_p.C20R|TRIM14_uc004ayj.1_5'UTR	p.C20R	NM_033220	NP_150089	Q14142	TRI14_HUMAN			1	76	-		Acute lymphoblastic leukemia(62;0.0559)	20			B box-type.		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.58T>C	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	A	8.312	0.822363	0.16678	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.55234	0.53;0.53;0.53	4.42	-8.85	0.00799	Zinc finger, B-box (1);	1.849740	0.02315	N	0.072490	T	0.26412	0.0645	N	0.16368	0.405	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13872	-1.0493	10	0.25106	T	0.35	.	0.1504	0.00092	0.2928:0.2112:0.1546:0.3415	.	20;20	Q14142-2;Q14142	.;TRI14_HUMAN	R	20	ENSP00000364239:C20R;ENSP00000344208:C20R;ENSP00000343990:C20R	ENSP00000344208:C20R	C	-	1	0	TRIM14	99921234	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.423000	0.00476	-2.274000	0.00680	-1.281000	0.01382	TGC		PASS	0.746	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		9	25	9	25	---	---	---	---
SURF2	6835	broad.mit.edu	37	9	136226846	136226846	+	Missense_Mutation	SNP	G	G	T	rs587619819		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr9:136226846G>T	ENST00000371964.4	+	4	399	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	120						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G120W(1)		breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TCAGAAGCAAGGGGTGGAGTA	0.637																																						uc004cdi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)GGG>TGG		surfeit 2							73.0	61.0	65.0					9																	136226846		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136226846G>T		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.358G>T	9.37:g.136226846G>T	ENSP00000361032:p.Gly120Trp						p.G120W	NM_017503	NP_059973	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	4	406	+			120					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.358G>T	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627917	0.28978	.	.	ENSG00000148291	ENST00000371964	T	0.40476	1.03	5.3	4.4	0.53042	.	0.122699	0.53938	D	0.000045	T	0.49270	0.1547	M	0.84846	2.72	0.51012	D	0.999908	B	0.29909	0.261	B	0.30716	0.119	T	0.54655	-0.8261	10	0.62326	D	0.03	0.193	12.8894	0.58064	0.0:0.0:0.8374:0.1626	.	120	Q15527	SURF2_HUMAN	W	120	ENSP00000361032:G120W	ENSP00000361032:G120W	G	+	1	0	SURF2	135216667	1.000000	0.71417	0.964000	0.40570	0.215000	0.24574	4.597000	0.61062	1.222000	0.43521	0.462000	0.41574	GGG		PASS	0.637	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		5	23	5	23	---	---	---	---
ATP5C1	509	broad.mit.edu	37	10	7844746	7844746	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:7844746G>C	ENST00000356708.7	+	8	898	c.819G>C	c.(817-819)ttG>ttC	p.L273F	ATP5C1_ENST00000335698.4_Missense_Mutation_p.L273F|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.L226F	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	273					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.L273F(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						AATTGACATTGACATTCAACC	0.368																																					Melanoma(143;1012 1820 16249 30920 33158)	uc001iju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)TTG>TTC		ATP synthase, H+ transporting, mitochondrial F1							90.0	87.0	88.0					10																	7844746		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7844746G>C	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.819G>C	10.37:g.7844746G>C	ENSP00000349142:p.Leu273Phe					ATP5C1_uc009xiq.1_Missense_Mutation_p.L273F|ATP5C1_uc010qbc.1_Missense_Mutation_p.L224F|ATP5C1_uc001ijv.2_Missense_Mutation_p.L273F	p.L273F	NM_001001973	NP_001001973	P36542	ATPG_HUMAN			8	897	+			273					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.819G>C	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982255	0.74474	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.5	3.61	0.41365	ATPase, F1 complex, gamma subunit domain (1);	0.065944	0.64402	D	0.000008	D	0.86184	0.5872	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.88462	0.3056	9	0.87932	D	0	-10.4503	11.3058	0.49334	0.0697:0.1267:0.8036:0.0	.	273	P36542	ATPG_HUMAN	F	273;273;226	.	ENSP00000338568:L273F	L	+	3	2	ATP5C1	7884752	1.000000	0.71417	0.975000	0.42487	0.944000	0.59088	3.063000	0.49978	0.765000	0.33221	0.655000	0.94253	TTG		PASS	0.368	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		23	71	23	71	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17432531	17432531	+	Splice_Site	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:17432531C>A	ENST00000377602.4	-	3	363	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	ST8SIA6-AS1_ENST00000457649.2_RNA|ST8SIA6-AS1_ENST00000451225.2_RNA|ST8SIA6-AS1_ENST00000377597.2_RNA	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	97					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.G97W(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAACTTACCCTTTCGTTTTG	0.363																																						uc001ipd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)GGG>TGG		ST8 alpha-N-acetyl-neuraminide							152.0	145.0	147.0					10																	17432531		2202	4300	6502	SO:0001630	splice_region_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17432531C>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.290+1G>T	10.37:g.17432531C>A						ST8SIA6_uc010qce.1_RNA|uc001ipe.2_Intron|uc001ipf.1_Intron	p.G97W	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			3	289	-			97			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.289G>T	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484947	0.44147	.	.	ENSG00000148488	ENST00000377602	T	0.22945	1.93	4.6	-6.23	0.02052	.	1.550890	0.03247	N	0.181298	T	0.16599	0.0399	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	P	0.50049	0.629	T	0.24476	-1.0159	10	0.66056	D	0.02	-5.4658	4.9588	0.14056	0.1125:0.1426:0.5503:0.1945	.	97	P61647	SIA8F_HUMAN	W	97	ENSP00000366827:G97W	ENSP00000366827:G97W	G	-	1	0	ST8SIA6	17472537	0.003000	0.15002	0.002000	0.10522	0.743000	0.42351	-0.232000	0.09055	-0.962000	0.03604	-0.165000	0.13383	GGG		PASS	0.363	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	Missense_Mutation	14	114	14	114	---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22653832	22653832	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:22653832C>G	ENST00000376624.3	+	3	314	c.172C>G	c.(172-174)Caa>Gaa	p.Q58E	SPAG6_ENST00000538630.1_Missense_Mutation_p.Q33E|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q58E|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q58E|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376603.2_Missense_Mutation_p.Q134E	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	58					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.Q58E(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CCCAACAATTCAACAGACTGC	0.393																																						uc001iri.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(172-174)CAA>GAA		sperm associated antigen 6 isoform 1							95.0	90.0	92.0					10																	22653832		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22653832C>G	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.172C>G	10.37:g.22653832C>G	ENSP00000365811:p.Gln58Glu					SPAG6_uc001irj.2_Missense_Mutation_p.Q58E|SPAG6_uc010qct.1_Missense_Mutation_p.Q28E|SPAG6_uc009xkh.2_Missense_Mutation_p.Q36E	p.Q58E	NM_012443	NP_036575	O75602	SPAG6_HUMAN			3	314	+			58			ARM 1.		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.172C>G	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160962	0.94727	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311;ENST00000435326	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;1.43;-0.26;1.43;-0.26;0.48	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.050216	0.85682	D	0.000000	D	0.84955	0.5587	M	0.93062	3.375	0.80722	D	1	P;D;P;P	0.58268	0.758;0.982;0.763;0.644	P;P;P;P	0.58577	0.682;0.841;0.749;0.612	D	0.87928	0.2708	10	0.87932	D	0	-1.3352	20.0851	0.97797	0.0:1.0:0.0:0.0	.	33;134;58;58	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	E	58;134;58;33;58;58;134	ENSP00000365811:Q58E;ENSP00000365788:Q134E;ENSP00000365786:Q58E;ENSP00000441325:Q33E;ENSP00000411111:Q58E;ENSP00000323599:Q58E;ENSP00000406594:Q134E	ENSP00000323599:Q58E	Q	+	1	0	SPAG6	22693838	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	7.683000	0.84093	2.829000	0.97493	0.585000	0.79938	CAA		PASS	0.393	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			16	52	16	52	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43318687	43318687	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:43318687G>T	ENST00000374518.5	+	20	3317	c.3254G>T	c.(3253-3255)aGc>aTc	p.S1085I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1085					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S1085I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAGGGCCAGCTTTGAGGAT	0.517																																						uc001jaj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3253-3255)AGC>ATC		BMS1-like, ribosome assembly protein							63.0	65.0	64.0					10																	43318687		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318687G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3254G>T	10.37:g.43318687G>T	ENSP00000363642:p.Ser1085Ile						p.S1085I	NM_014753	NP_055568	Q14692	BMS1_HUMAN			20	3612	+			1085					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3254G>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720831	0.48728	.	.	ENSG00000165733	ENST00000374518	T	0.16897	2.31	4.52	-0.111	0.13576	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.259143	0.37136	N	0.002239	T	0.15046	0.0363	L	0.34521	1.04	0.32751	N	0.506343	B	0.27910	0.193	B	0.30029	0.11	T	0.11131	-1.0600	10	0.35671	T	0.21	.	18.5535	0.91073	0.0:0.7741:0.2259:0.0	.	1085	Q14692	BMS1_HUMAN	I	1085	ENSP00000363642:S1085I	ENSP00000363642:S1085I	S	+	2	0	BMS1	42638693	0.997000	0.39634	0.998000	0.56505	0.933000	0.57130	1.457000	0.35212	0.089000	0.17243	0.440000	0.28878	AGC		PASS	0.517	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		31	83	31	83	---	---	---	---
GDF10	2662	broad.mit.edu	37	10	48429451	48429451	+	Silent	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:48429451C>T	ENST00000224605.2	-	2	700	c.435G>A	c.(433-435)gcG>gcA	p.A145A		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	145					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.A145A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCACCTCGAGCGCTCGAGGCC	0.632																																						uc001jfb.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(433-435)GCG>GCA		growth differentiation factor 10 precursor							19.0	26.0	24.0					10																	48429451		2200	4294	6494	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429451C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.435G>A	10.37:g.48429451C>T						GDF10_uc009xnp.2_Silent_p.A144A|GDF10_uc009xnq.1_Silent_p.A145A	p.A145A	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	891	-			145					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.435G>A	CCDS7220.1																																																																																				PASS	0.632	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		9	21	9	21	---	---	---	---
TBATA	219793	broad.mit.edu	37	10	72531216	72531216	+	Splice_Site	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:72531216C>T	ENST00000299290.1	-	11	1361	c.972G>A	c.(970-972)gaG>gaA	p.E324E	TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	324					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.E324E(1)									CTCCAATGTACTCTAGTGGGA	0.582																																						uc001jrj.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(970-972)GAG>GAA		stromal protein associated with thymii and lymph							138.0	134.0	135.0					10																	72531216		2203	4300	6503	SO:0001630	splice_region_variant	219793				cell differentiation|multicellular organismal development|spermatogenesis	cytosol		g.chr10:72531216C>T	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.971-1G>A	10.37:g.72531216C>T						C10orf27_uc010qjm.1_Silent_p.E325E|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Silent_p.E323E	p.E324E	NM_152710	NP_689923	Q96M53	SPATL_HUMAN			11	1362	-			324					A4QPA8|B2RPQ2|Q5T4G2	Silent	SNP	ENST00000299290.1	37	c.972G>A	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	c	12.13	1.845526	0.32606	.	.	ENSG00000166220	ENST00000394982	.	.	.	4.41	1.29	0.21616	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.32731	N	0.509039	.	.	.	.	.	.	T	0.57670	-0.7771	5	0.87932	D	0	.	3.7262	0.08476	0.0:0.5653:0.2096:0.2251	.	.	.	.	I	45	.	ENSP00000378433:V45I	V	-	1	0	C10orf27	72201222	0.031000	0.19500	0.548000	0.28192	0.436000	0.31835	-0.028000	0.12350	0.988000	0.38734	0.558000	0.71614	GTA		PASS	0.582	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710	Silent	14	109	14	109	---	---	---	---
SLC35G1	159371	broad.mit.edu	37	10	95660927	95660927	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:95660927G>A	ENST00000427197.1	+	3	839	c.778G>A	c.(778-780)Gta>Ata	p.V260I	SLC35G1_ENST00000371408.3_Missense_Mutation_p.V259I	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	260	EamA 2.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V259I(1)									GTATTATGTAGTACTTGGCCT	0.433																																						uc001kjg.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(778-780)GTA>ATA		transmembrane protein 20 isoform 1							132.0	131.0	131.0					10																	95660927		2203	4300	6503	SO:0001583	missense	159371					integral to membrane		g.chr10:95660927G>A	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.778G>A	10.37:g.95660927G>A	ENSP00000400932:p.Val260Ile					TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.V259I|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.V243I|TMEM20_uc001kjj.2_Intron	p.V260I	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN		STAD - Stomach adenocarcinoma(243;0.00345)	3	839	+		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)	260			DUF6 2.|Helical; (Potential).		Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	37	c.778G>A	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.604337	0.00849	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.48201	0.82;0.82	6.06	-5.33	0.02713	.	0.557216	0.20391	N	0.093247	T	0.25232	0.0613	N	0.11106	0.095	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.22880	0.042;0.009;0.003	T	0.11275	-1.0594	10	0.27785	T	0.31	.	15.5202	0.75859	0.3507:0.0:0.6493:0.0	.	243;260;259	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	I	259;260	ENSP00000360462:V259I;ENSP00000400932:V260I	ENSP00000360462:V259I	V	+	1	0	SLC35G1	95650917	0.494000	0.26043	0.000000	0.03702	0.035000	0.12851	0.721000	0.25911	-0.809000	0.04381	-0.312000	0.09012	GTA		PASS	0.433	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		21	106	21	106	---	---	---	---
SFRP5	6425	broad.mit.edu	37	10	99527577	99527577	+	Silent	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:99527577C>T	ENST00000266066.3	-	3	766	c.648G>A	c.(646-648)ggG>ggA	p.G216G		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	216	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G216G(2)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GCTTCCGGTCCCCATTCTCTA	0.542																																						uc001kor.3																			2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(646-648)GGG>GGA		secreted frizzled-related protein 5 precursor							72.0	74.0	73.0					10																	99527577		2203	4300	6503	SO:0001819	synonymous_variant	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99527577C>T	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.648G>A	10.37:g.99527577C>T							p.G216G	NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	3	814	-		Colorectal(252;0.234)	216			NTR.		O14780|Q86TH7	Silent	SNP	ENST00000266066.3	37	c.648G>A	CCDS7472.1																																																																																				PASS	0.542	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		31	84	31	84	---	---	---	---
GPAM	57678	broad.mit.edu	37	10	113915650	113915650	+	Silent	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:113915650G>T	ENST00000348367.4	-	20	2480	c.2283C>A	c.(2281-2283)acC>acA	p.T761T	GPAM_ENST00000423155.1_Silent_p.T761T|GPAM_ENST00000369425.1_3'UTR			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	761					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.T761T(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTTCTGTTCTGGTTATTAGGT	0.348																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2281-2283)ACC>ACA		mitochondrial glycerol 3-phosphate							111.0	104.0	106.0					10																	113915650		2203	4300	6503	SO:0001819	synonymous_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113915650G>T	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2283C>A	10.37:g.113915650G>T						GPAM_uc001kzp.2_Silent_p.T761T|GPAM_uc001kzq.1_3'UTR	p.T761T	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	20	2481	-			761			Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).		Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	c.2283C>A	CCDS7570.1																																																																																				PASS	0.348	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		7	44	7	44	---	---	---	---
PTPRE	5791	broad.mit.edu	37	10	129875936	129875936	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr10:129875936G>T	ENST00000254667.3	+	19	2060	c.1781G>T	c.(1780-1782)gGc>gTc	p.G594V	PTPRE_ENST00000306042.5_Missense_Mutation_p.G536V|PTPRE_ENST00000419012.2_Missense_Mutation_p.G594V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	594	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G594V(1)|p.G536V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CACTTCCACGGCTGGCCTGAG	0.662																																					Colon(52;977 1184 20575 41685)	uc001lkb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1780-1782)GGC>GTC		protein tyrosine phosphatase, receptor type, E							61.0	54.0	56.0					10																	129875936		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129875936G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1781G>T	10.37:g.129875936G>T	ENSP00000254667:p.Gly594Val					PTPRE_uc009yat.2_Missense_Mutation_p.G605V|PTPRE_uc009yau.2_Missense_Mutation_p.G594V|PTPRE_uc001lkd.2_Missense_Mutation_p.G536V|PTPRE_uc010quq.1_Missense_Mutation_p.G495V	p.G594V	NM_006504	NP_006495	P23469	PTPRE_HUMAN			19	2060	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	594			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1781G>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641040	0.87859	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.12672	2.66;2.66;2.66	4.44	4.44	0.53790	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	L	0.43554	1.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.999	T	0.05550	-1.0878	10	0.87932	D	0	.	17.2389	0.87007	0.0:0.0:1.0:0.0	.	572;594;536;594	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	V	594;572;594;536	ENSP00000254667:G594V;ENSP00000402337:G594V;ENSP00000303350:G536V	ENSP00000254667:G594V	G	+	2	0	PTPRE	129765926	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.643000	0.98464	2.315000	0.78130	0.561000	0.74099	GGC		PASS	0.662	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			15	36	15	36	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1268821	1268821	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:1268821T>A	ENST00000529681.1	+	31	10769	c.10711T>A	c.(10711-10713)Tgt>Agt	p.C3571S	MUC5B_ENST00000447027.1_Missense_Mutation_p.C3574S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3571	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.C3571S(1)|p.C3550S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACGGGCTGTGAGCCCCA	0.667																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(12295-12297)TGT>AGT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							28.0	38.0	35.0					11																	1268821		1871	4066	5937	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268821T>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10711T>A	11.37:g.1268821T>A	ENSP00000436812:p.Cys3571Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.C3574S	p.C4099S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	50	12421	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3571	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Cys-rich subdomain 6.|Thr-rich.|HAT 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12295T>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	t	8.851	0.944638	0.18356	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19938	2.11;2.3	3.51	3.51	0.40186	.	.	.	.	.	T	0.45316	0.1336	M	0.73962	2.25	0.21878	N	0.999496	D;D	0.71674	0.998;0.997	D;P	0.74674	0.984;0.878	T	0.24368	-1.0162	9	0.87932	D	0	.	12.3377	0.55077	0.0:0.0:0.0:1.0	.	4099;3574	A7Y9J9;E9PBJ0	.;.	S	3571;3574;3543;3476	ENSP00000436812:C3571S;ENSP00000415793:C3574S	ENSP00000343037:C3543S	C	+	1	0	MUC5B	1225397	0.963000	0.33076	0.013000	0.15412	0.016000	0.09150	2.643000	0.46604	1.376000	0.46267	0.397000	0.26171	TGT		PASS	0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		20	48	20	48	---	---	---	---
CARS	833	broad.mit.edu	37	11	3047975	3047975	+	Nonsense_Mutation	SNP	C	C	A	rs552905313		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:3047975C>A	ENST00000397111.5	-	9	1080	c.835G>T	c.(835-837)Gag>Tag	p.E279*	CARS_ENST00000397114.3_Nonsense_Mutation_p.E269*|CARS_ENST00000401769.3_Nonsense_Mutation_p.E292*|CARS_ENST00000380525.4_Nonsense_Mutation_p.E362*|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000278224.9_Nonsense_Mutation_p.E279*			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	279					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.E279*(1)|p.E362*(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GAGTGCTTCTCGCTAGAAGCA	0.517			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	2	Substitution - Nonsense(2)		lung(2)	soft_tissue(5)|ovary(2)	7						c.(835-837)GAG>TAG		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						109.0	103.0	105.0					11																	3047975		2202	4298	6500	SO:0001587	stop_gained	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3047975C>A	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.835G>T	11.37:g.3047975C>A	ENSP00000380300:p.Glu279*					CARS_uc001lxe.2_Nonsense_Mutation_p.E269*|CARS_uc001lxf.2_Nonsense_Mutation_p.E362*|CARS_uc001lxg.2_Nonsense_Mutation_p.E279*|CARS_uc010qxo.1_Nonsense_Mutation_p.E362*|CARS_uc010qxp.1_Nonsense_Mutation_p.E292*|uc001lxi.1_5'Flank	p.E279*	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	9	909	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	279					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Nonsense_Mutation	SNP	ENST00000397111.5	37	c.835G>T	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558889	0.65538	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	.	.	.	4.48	4.48	0.54585	.	0.233064	0.43260	D	0.000581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-30.856	17.3559	0.87335	0.0:1.0:0.0:0.0	.	.	.	.	X	362;279;279;269;292	.	ENSP00000278224:E279X	E	-	1	0	CARS	3004551	0.995000	0.38212	0.031000	0.17742	0.077000	0.17291	2.715000	0.47210	2.315000	0.78130	0.655000	0.94253	GAG		PASS	0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		43	89	43	89	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22261155	22261155	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:22261155A>G	ENST00000324559.8	+	9	1120	c.803A>G	c.(802-804)aAt>aGt	p.N268S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	268					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.N268S(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATCCTACCAATGAAAGATAC	0.408																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(802-804)AAT>AGT		anoctamin 5 isoform a							143.0	146.0	145.0					11																	22261155		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22261155A>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.803A>G	11.37:g.22261155A>G	ENSP00000315371:p.Asn268Ser					ANO5_uc001mqj.2_Missense_Mutation_p.N267S	p.N268S	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			9	1120	+			268			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.803A>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261596	0.39995	.	.	ENSG00000171714	ENST00000324559	T	0.69561	-0.41	6.02	6.02	0.97574	.	0.042711	0.85682	D	0.000000	T	0.48677	0.1513	N	0.20483	0.58	0.32413	N	0.550359	B	0.31837	0.342	B	0.27380	0.079	T	0.59627	-0.7419	10	0.34782	T	0.22	.	10.5396	0.45024	0.9278:0.0:0.0722:0.0	.	268	Q75V66	ANO5_HUMAN	S	268	ENSP00000315371:N268S	ENSP00000315371:N268S	N	+	2	0	ANO5	22217731	1.000000	0.71417	0.970000	0.41538	0.721000	0.41392	2.501000	0.45389	2.304000	0.77564	0.528000	0.53228	AAT		PASS	0.408	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		36	113	36	113	---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27390517	27390517	+	Silent	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:27390517A>G	ENST00000379214.4	-	18	2196	c.1753T>C	c.(1753-1755)Tta>Cta	p.L585L	LGR4_ENST00000389858.4_Silent_p.L561L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	585					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.L585L(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCCATGAATAAGTTAGACACA	0.403																																						uc001mrj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1753-1755)TTA>CTA		leucine-rich repeat-containing G protein-coupled							83.0	84.0	84.0					11																	27390517		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390517A>G	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.1753T>C	11.37:g.27390517A>G						LGR4_uc001mrk.3_Silent_p.L561L	p.L585L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			18	2238	-			585			Helical; Name=2; (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.1753T>C	CCDS31449.1																																																																																				PASS	0.403	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		25	45	25	45	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44072937	44072937	+	Nonsense_Mutation	SNP	C	C	T	rs202077224		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:44072937C>T	ENST00000378832.1	+	4	744	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	230					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.R230*(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GGCACCTACCCGACTTGACCC	0.572																																						uc001mxw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)	5						c.(688-690)CGA>TGA		1-aminocyclopropane-1-carboxylate synthase		C	stop/ARG	1,3871		0,1,1935	105.0	101.0	102.0		688	2.7	0.0	11		102	0,8280		0,0,4140	yes	stop-gained	ACCSL	NM_001031854.2		0,1,6075	TT,TC,CC		0.0,0.0258,0.0082		230/569	44072937	1,12151	1936	4140	6076	SO:0001587	stop_gained	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44072937C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.688C>T	11.37:g.44072937C>T	ENSP00000368109:p.Arg230*					ACCSL_uc009ykr.2_Nonsense_Mutation_p.R49*	p.R230*	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			4	744	+			230						Nonsense_Mutation	SNP	ENST00000378832.1	37	c.688C>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551852	0.96501	2.58E-4	0.0	ENSG00000205126	ENST00000378832	.	.	.	4.64	2.72	0.32119	.	1.175860	0.06101	N	0.665505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	0.704	7.2593	0.26193	0.169:0.7395:0.0:0.0915	.	.	.	.	X	230	.	ENSP00000368109:R230X	R	+	1	2	ACCSL	44029513	0.057000	0.20700	0.000000	0.03702	0.369000	0.29798	3.582000	0.53921	0.648000	0.30732	0.563000	0.77884	CGA		PASS	0.572	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		21	60	21	60	---	---	---	---
SLC35C1	55343	broad.mit.edu	37	11	45832694	45832694	+	Silent	SNP	G	G	T	rs150743224		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:45832694G>T	ENST00000314134.3	+	2	2299	c.903G>T	c.(901-903)acG>acT	p.T301T	SLC35C1_ENST00000456334.1_Silent_p.T288T|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000442528.2_Silent_p.T288T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	301					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.T301T(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGTCGGGCACGGCCAAGGCCT	0.607																																						uc001nbp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(901-903)ACG>ACT		GDP-fucose transporter 1 isoform a		G	,,	0,4406		0,0,2203	44.0	46.0	45.0		864,864,903	-7.5	0.6	11	dbSNP_134	45	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC35C1	NM_001145265.1,NM_001145266.1,NM_018389.4	,,	0,2,6500	TT,TG,GG		0.0233,0.0,0.0154	,,	288/352,288/352,301/365	45832694	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45832694G>T		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.903G>T	11.37:g.45832694G>T						SLC35C1_uc001nbo.2_Silent_p.T288T|SLC35C1_uc010rgm.1_Silent_p.T288T	p.T301T	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	2	1615	+			301					B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	ENST00000314134.3	37	c.903G>T	CCDS7914.1																																																																																				PASS	0.607	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		23	57	23	57	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579417	55579417	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:55579417C>T	ENST00000333973.2	+	1	564	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H159N(1)|p.H159Y(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTCTGATTCATTTGTGCTT	0.443																																						uc001nhw.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(475-477)CAT>TAT		olfactory receptor, family 5, subfamily L,							215.0	188.0	197.0					11																	55579417		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579417C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.475C>T	11.37:g.55579417C>T	ENSP00000335529:p.His159Tyr						p.H159Y	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	475	+		all_epithelial(135;0.208)	159			Helical; Name=4; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.475C>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	12.90	2.077870	0.36662	.	.	ENSG00000186117	ENST00000333973	T	0.00267	8.38	4.18	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00328	0.0010	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52305	-0.8593	10	0.62326	D	0.03	-34.9027	3.0008	0.06012	0.1784:0.542:0.1737:0.1059	.	159	Q8NGL2	OR5L1_HUMAN	Y	159	ENSP00000335529:H159Y	ENSP00000335529:H159Y	H	+	1	0	OR5L1	55335993	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	0.069000	0.14552	0.175000	0.19841	0.435000	0.28638	CAT		PASS	0.443	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		11	194	11	194	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587891	55587891	+	Silent	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:55587891G>T	ENST00000333976.4	+	1	806	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V262V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTACTGTGTGCCCAACTCCA	0.527																																						uc010rin.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(784-786)GTG>GTT		olfactory receptor, family 5, subfamily D,							95.0	89.0	91.0					11																	55587891		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587891G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.786G>T	11.37:g.55587891G>T							p.V262V	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	786	+		all_epithelial(135;0.208)	262			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.786G>T	CCDS31510.1																																																																																				PASS	0.527	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		22	58	22	58	---	---	---	---
MYEOV	26579	broad.mit.edu	37	11	69062910	69062910	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:69062910C>T	ENST00000308946.3	+	2	539	c.89C>T	c.(88-90)tCc>tTc	p.S30F	MYEOV_ENST00000535407.1_5'UTR|MYEOV_ENST00000441339.2_Missense_Mutation_p.S30F	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	30								p.S30F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		cagtctccctcctggtgtcAT	0.587																																						uc001oov.2																			2	Substitution - Missense(2)		lung(2)		0						c.(88-90)TCC>TTC		myeloma overexpressed							240.0	171.0	194.0					11																	69062910		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69062910C>T	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.89C>T	11.37:g.69062910C>T	ENSP00000308330:p.Ser30Phe					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.S30F|MYEOV_uc001oow.2_5'UTR	p.S30F	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	539	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		30					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.89C>T	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997231	0.19043	.	.	ENSG00000172927	ENST00000441339;ENST00000308946	T;T	0.24350	1.86;1.86	1.34	-0.873	0.10635	.	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.19300	N	0.999973	P	0.47910	0.902	B	0.32465	0.146	T	0.20672	-1.0268	9	0.87932	D	0	.	6.8908	0.24228	0.0:0.4224:0.5776:0.0	.	30	Q96EZ4	MYEOV_HUMAN	F	30	ENSP00000412482:S30F;ENSP00000308330:S30F	ENSP00000308330:S30F	S	+	2	0	MYEOV	68819486	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-1.934000	0.01552	-0.247000	0.09597	-0.666000	0.03841	TCC		PASS	0.587	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			32	101	32	101	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74000142	74000142	+	Silent	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:74000142G>T	ENST00000331597.4	-	5	796	c.751C>A	c.(751-753)Cgg>Agg	p.R251R	P4HA3_ENST00000427714.2_Silent_p.R251R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	251						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.R251R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					agaaactcccgagagaggctg	0.423																																						uc001ouz.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(751-753)CGG>AGG		prolyl 4-hydroxylase, alpha III subunit							46.0	47.0	47.0					11																	74000142		2200	4293	6493	SO:0001819	synonymous_variant	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74000142G>T	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.751C>A	11.37:g.74000142G>T						P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.R251R	p.R251R	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN			5	794	-	Breast(11;2.31e-05)		251			TPR.		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Silent	SNP	ENST00000331597.4	37	c.751C>A	CCDS8230.1																																																																																				PASS	0.423	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		5	4	5	4	---	---	---	---
USP35	57558	broad.mit.edu	37	11	77920699	77920699	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:77920699T>G	ENST00000529308.1	+	10	2059	c.1798T>G	c.(1798-1800)Ttc>Gtc	p.F600V	USP35_ENST00000441408.2_Missense_Mutation_p.F186V|USP35_ENST00000530267.1_Missense_Mutation_p.F168V|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.F331V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	600	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.F356V(1)|p.F600V(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTCTCTCGCCTTCCCTCCTCC	0.622																																						uc009yva.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)	3						c.(1798-1800)TTC>GTC		ubiquitin specific protease 35							57.0	63.0	61.0					11																	77920699		2035	4183	6218	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77920699T>G	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1798T>G	11.37:g.77920699T>G	ENSP00000431876:p.Phe600Val					USP35_uc001oze.2_Missense_Mutation_p.F356V|USP35_uc001ozc.2_Missense_Mutation_p.F168V|USP35_uc010rsp.1_Missense_Mutation_p.F32V|USP35_uc001ozd.2_Missense_Mutation_p.F211V|USP35_uc001ozf.2_Missense_Mutation_p.F331V	p.F600V	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2044	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		600						Missense_Mutation	SNP	ENST00000529308.1	37	c.1798T>G	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	t	20.4	3.976581	0.74360	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000008	T	0.09686	0.0238	N	0.11845	0.185	0.50813	D	0.999891	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.37663	-0.9696	10	0.87932	D	0	-21.4246	14.0171	0.64531	0.0:0.0:0.0:1.0	.	600;186	Q9P2H5;E7EWV7	UBP35_HUMAN;.	V	168;600;186;331	ENSP00000435468:F168V;ENSP00000431876:F600V;ENSP00000400825:F186V;ENSP00000434942:F331V	ENSP00000400825:F186V	F	+	1	0	USP35	77598347	1.000000	0.71417	0.136000	0.22124	0.931000	0.56810	4.971000	0.63749	1.895000	0.54865	0.378000	0.23410	TTC		PASS	0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		31	94	31	94	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120984356	120984356	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr11:120984356A>C	ENST00000392793.1	+	6	990	c.719A>C	c.(718-720)aAt>aCt	p.N240T	TECTA_ENST00000264037.2_Missense_Mutation_p.N240T			O75443	TECTA_HUMAN	tectorin alpha	240	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.N240T(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAACGTCAATGTTCCAGGC	0.512																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(718-720)AAT>ACT		tectorin alpha precursor							60.0	60.0	60.0					11																	120984356		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120984356A>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.719A>C	11.37:g.120984356A>C	ENSP00000376543:p.Asn240Thr						p.N240T	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	5	719	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	240			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.719A>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491671	0.84962	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.73681	-0.77;-0.77	4.92	4.92	0.64577	Nidogen, extracellular domain (3);	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	M	0.89214	3.015	0.49687	D	0.999816	D	0.69078	0.997	D	0.83275	0.996	D	0.90366	0.4377	10	0.87932	D	0	.	14.7597	0.69596	1.0:0.0:0.0:0.0	.	240	O75443	TECTA_HUMAN	T	240	ENSP00000376543:N240T;ENSP00000264037:N240T	ENSP00000264037:N240T	N	+	2	0	TECTA	120489566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.099000	0.94207	2.064000	0.61679	0.533000	0.62120	AAT		PASS	0.512	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		14	35	14	35	---	---	---	---
TULP3	7289	broad.mit.edu	37	12	3031460	3031460	+	Missense_Mutation	SNP	G	G	T	rs148720872	byFrequency	TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr12:3031460G>T	ENST00000448120.2	+	4	337	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	TULP3_ENST00000397132.2_Missense_Mutation_p.D96Y	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	96					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)	p.D96Y(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCTGAAACCAGACGAAGTTCA	0.438																																						uc010seh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)GAC>TAC		tubby like protein 3 isoform 1							169.0	151.0	157.0					12																	3031460		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3031460G>T	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.286G>T	12.37:g.3031460G>T	ENSP00000410051:p.Asp96Tyr					TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D96Y|TULP3_uc010sei.1_5'UTR	p.D96Y	NM_003324	NP_003315	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		4	367	+			96					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.286G>T	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721212	0.48728	.	.	ENSG00000078246	ENST00000535226;ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.93133	-3.12;-3.17	4.47	3.57	0.40892	.	0.390200	0.29767	N	0.011259	D	0.90532	0.7033	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.972;0.995	P;P	0.61201	0.781;0.885	D	0.90690	0.4612	10	0.66056	D	0.02	-18.0723	10.8678	0.46866	0.0946:0.0:0.9054:0.0	.	96;96	O75386;F8WBZ9	TULP3_HUMAN;.	Y	77;96;96;96	ENSP00000410051:D96Y;ENSP00000380321:D96Y	ENSP00000228245:D96Y	D	+	1	0	TULP3	2901721	1.000000	0.71417	0.996000	0.52242	0.492000	0.33523	7.065000	0.76727	0.872000	0.35775	0.561000	0.74099	GAC		PASS	0.438	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		38	132	38	132	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6950762	6950762	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr12:6950762G>C	ENST00000229264.3	+	4	475	c.70G>C	c.(70-72)Gcc>Ccc	p.A24P	LEPREL2_ENST00000396725.2_RNA|GNB3_ENST00000435982.2_Missense_Mutation_p.A24P|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	24					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.A24P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGCCAGGAAAGCCTGTGCTGA	0.652																																						uc001qrd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)GCC>CCC		guanine nucleotide-binding protein, beta-3							54.0	48.0	50.0					12																	6950762		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6950762G>C		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.70G>C	12.37:g.6950762G>C	ENSP00000229264:p.Ala24Pro					GNB3_uc001qrc.2_5'UTR|GNB3_uc009zfe.2_Missense_Mutation_p.A24P	p.A24P	NM_002075	NP_002066	P16520	GBB3_HUMAN			4	475	+			24					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.70G>C	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525931	0.64860	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.01359	4.98;4.98;4.98;4.98	4.22	4.22	0.49857	WD40 repeat-like-containing domain (1);	0.238753	0.43260	D	0.000591	T	0.02970	0.0088	M	0.67700	2.07	0.48395	D	0.999644	B;B	0.29531	0.247;0.247	B;B	0.35312	0.2;0.2	T	0.51012	-0.8759	10	0.37606	T	0.19	-22.0174	12.8166	0.57669	0.0:0.1645:0.8355:0.0	.	24;24	E9PCP0;P16520	.;GBB3_HUMAN	P	24	ENSP00000229264:A24P;ENSP00000442002:A24P;ENSP00000414734:A24P;ENSP00000445967:A24P	ENSP00000229264:A24P	A	+	1	0	GNB3	6821023	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.884000	0.87274	2.087000	0.62958	0.561000	0.74099	GCC		PASS	0.652	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		5	32	5	32	---	---	---	---
RIMKLB	57494	broad.mit.edu	37	12	8906573	8906573	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr12:8906573A>T	ENST00000538135.1	+	5	1406	c.581A>T	c.(580-582)aAg>aTg	p.K194M	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Missense_Mutation_p.K194M|RIMKLB_ENST00000535829.1_Missense_Mutation_p.K194M			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	194	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.K194M(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGTTCCAGAAGTATGTTAAA	0.458																																						uc001quu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)AAG>ATG		ribosomal modification protein rimK-like family							162.0	143.0	149.0					12																	8906573		1926	4129	6055	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8906573A>T	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.581A>T	12.37:g.8906573A>T	ENSP00000440943:p.Lys194Met					RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.K194M|RIMKLB_uc010sgl.1_Missense_Mutation_p.K194M|RIMKLB_uc001quw.2_Missense_Mutation_p.K194M	p.K194M	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			5	832	+			194			ATP-grasp.|ATP (By similarity).		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.581A>T	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687283	0.88639	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.83	4.83	0.62350	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.065455	0.64402	U	0.000011	T	0.75510	0.3859	M	0.72894	2.215	0.54753	D	0.999984	D;D	0.55385	0.964;0.971	P;P	0.62649	0.846;0.905	T	0.79019	-0.1974	9	0.87932	D	0	.	13.5059	0.61483	1.0:0.0:0.0:0.0	.	194;194	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	M	194	.	ENSP00000350136:K194M	K	+	2	0	RIMKLB	8797840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.360000	0.90095	1.927000	0.55829	0.482000	0.46254	AAG		PASS	0.458	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		21	53	21	53	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18691193	18691193	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr12:18691193G>T	ENST00000266497.5	+	23	3342	c.3304G>T	c.(3304-3306)Gct>Tct	p.A1102S	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.A1143S|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.A1102S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1102	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.A1102S(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTGCTGTCGTGCTTATAATAT	0.373																																						uc001rdt.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3304-3306)GCT>TCT		phosphoinositide-3-kinase, class 2 gamma							76.0	74.0	75.0					12																	18691193		1808	4068	5876	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18691193G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3304G>T	12.37:g.18691193G>T	ENSP00000266497:p.Ala1102Ser					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.A1143S|PIK3C2G_uc010sic.1_Missense_Mutation_p.A921S	p.A1102S	NM_004570	NP_004561	O75747	P3C2G_HUMAN			24	3420	+		Hepatocellular(102;0.194)	1102			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3304G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563647	0.86335	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.77620	-1.11;-1.11;-1.11	4.21	4.21	0.49690	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.074934	0.51477	D	0.000084	D	0.87095	0.6092	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88597	0.3147	10	0.87932	D	0	-14.8214	16.8246	0.85927	0.0:0.0:1.0:0.0	.	1142;1143;1102	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	S	1102;1102;1143	ENSP00000404845:A1102S;ENSP00000266497:A1102S;ENSP00000445381:A1143S	ENSP00000266497:A1102S	A	+	1	0	PIK3C2G	18582460	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.503000	0.97984	2.642000	0.89623	0.591000	0.81541	GCT		PASS	0.373	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		18	44	18	44	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21207463	21207463	+	Silent	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr12:21207463A>T	ENST00000421593.2	+	10	1434	c.1434A>T	c.(1432-1434)ccA>ccT	p.P478P	SLCO1B7_ENST00000554957.1_Silent_p.P525P|LST3_ENST00000540229.1_Intron|RP11-125O5.2_ENST00000590779.1_5'Flank|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Silent_p.P525P	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	478						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P478P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTGAATGCCCAAGAGATGATG	0.368																																						uc010sin.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1432-1434)CCA>CCT		liver-specific organic anion transporter 3TM12							105.0	113.0	111.0					12																	21207463		2194	4300	6494	SO:0001819	synonymous_variant	338821					membrane	transporter activity	g.chr12:21207463A>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1434A>T	12.37:g.21207463A>T						SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.P525P	p.P478P	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			10	1434	+			478					Q71QF0	Silent	SNP	ENST00000421593.2	37	c.1434A>T	CCDS44843.1																																																																																				PASS	0.368	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		17	30	17	30	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49725031	49725031	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr12:49725031G>A	ENST00000257909.3	+	14	2209	c.2133G>A	c.(2131-2133)ctG>ctA	p.L711L	TROAP_ENST00000551245.1_Silent_p.L801L|TROAP_ENST00000547923.1_Silent_p.L390L	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	711					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.L711L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCTAGCCCTGAGGGAGCGCC	0.577																																						uc001rtx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2131-2133)CTG>CTA		tastin isoform 1							56.0	51.0	53.0					12																	49725031		2203	4300	6503	SO:0001819	synonymous_variant	10024				cell adhesion	cytoplasm		g.chr12:49725031G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2133G>A	12.37:g.49725031G>A						TROAP_uc009zlh.2_Silent_p.L801L|TROAP_uc001rty.2_Silent_p.L390L	p.L711L	NM_005480	NP_005471	Q12815	TROAP_HUMAN			14	2300	+			711					F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	37	c.2133G>A	CCDS8784.1																																																																																				PASS	0.577	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		17	53	17	53	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107103138	107103138	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr12:107103138G>A	ENST00000392842.1	+	9	1278	c.864G>A	c.(862-864)aaG>aaA	p.K288K	RFX4_ENST00000357881.4_Silent_p.K297K|RFX4_ENST00000229387.5_Silent_p.K194K|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	288					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K297K(1)|p.K194K(1)|p.K288K(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGTTTGCCAAGCAACTGGATG	0.473																																						uc001tlr.2																			3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(1)	1						c.(862-864)AAG>AAA		regulatory factor X4 isoform c							97.0	85.0	89.0					12																	107103138		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107103138G>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.864G>A	12.37:g.107103138G>A						RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Silent_p.K297K|RFX4_uc001tlt.2_Silent_p.K297K|RFX4_uc001tlv.2_Silent_p.K194K	p.K288K	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			9	930	+			288					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.864G>A	CCDS9106.1																																																																																				PASS	0.473	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		16	32	16	32	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116675334	116675334	+	Silent	SNP	T	T	C	rs138672862		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr12:116675334T>C	ENST00000281928.3	-	2	455	c.249A>G	c.(247-249)ttA>ttG	p.L83L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	83						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L83L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGAATATCCATAACTCTTTGC	0.413																																						uc001tvw.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(247-249)TTA>TTG		mediator complex subunit 13-like		T		1,4405	2.1+/-5.4	0,1,2202	149.0	135.0	140.0		249	1.9	1.0	12	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	MED13L	NM_015335.4		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		83/2211	116675334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116675334T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.249A>G	12.37:g.116675334T>C							p.L83L	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	2	304	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		83					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.249A>G	CCDS9177.1																																																																																				PASS	0.413	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			24	81	24	81	---	---	---	---
CRYL1	51084	broad.mit.edu	37	13	20978773	20978773	+	Splice_Site	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr13:20978773C>A	ENST00000298248.7	-	7	909		c.e7+1		CRYL1_ENST00000382812.1_Splice_Site	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1						fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)	p.?(1)		NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		AAGTTACATACCTGGTTAACC	0.532																																						uc001une.2																			1	Unknown(1)		lung(1)		0						c.e7+1		lambda-crystallin							133.0	141.0	138.0					13																	20978773		1967	4155	6122	SO:0001630	splice_region_variant	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:20978773C>A	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.846+1G>T	13.37:g.20978773C>A						CRYL1_uc001unf.2_Splice_Site_p.Q260_splice|CRYL1_uc001ung.2_Splice_Site_p.Q260_splice	p.Q282_splice	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	7	925	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)						A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Splice_Site	SNP	ENST00000298248.7	37	c.846_splice	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696579	0.30142	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	.	.	.	5.85	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7476	0.62885	0.0:0.9253:0.0:0.0747	.	.	.	.	.	-1	.	.	.	-	.	.	CRYL1	19876773	1.000000	0.71417	0.967000	0.41034	0.129000	0.20672	5.364000	0.66110	1.484000	0.48361	0.563000	0.77884	.		PASS	0.532	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974	Intron	35	79	35	79	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23906282	23906282	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr13:23906282G>T	ENST00000382292.3	-	9	12006	c.11733C>A	c.(11731-11733)agC>agA	p.S3911R	SACS_ENST00000402364.1_Missense_Mutation_p.S3161R|SACS_ENST00000382298.3_Missense_Mutation_p.S3911R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3911					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S3764R(1)|p.S3911R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TACCATCCTGGCTTGGGAGGT	0.438																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11731-11733)AGC>AGA		sacsin							147.0	128.0	134.0					13																	23906282		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906282G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11733C>A	13.37:g.23906282G>T	ENSP00000371729:p.Ser3911Arg					SACS_uc001uoo.2_Missense_Mutation_p.S3764R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S3911R	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12322	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3911					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11733C>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467392	0.43839	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89746	-2.41;-2.56;-2.41	5.82	3.84	0.44239	.	0.040721	0.85682	D	0.000000	D	0.83589	0.5287	L	0.29908	0.895	0.39647	D	0.970418	P	0.50710	0.938	P	0.48524	0.58	D	0.83783	0.0226	10	0.87932	D	0	.	5.9822	0.19413	0.1375:0.2055:0.657:0.0	.	3911	Q9NZJ4	SACS_HUMAN	R	3911;3161;3911	ENSP00000371729:S3911R;ENSP00000385844:S3161R;ENSP00000371735:S3911R	ENSP00000371729:S3911R	S	-	3	2	SACS	22804282	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	1.509000	0.35780	2.748000	0.94277	0.655000	0.94253	AGC		PASS	0.438	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		44	74	44	74	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32937315	32937315	+	Splice_Site	SNP	G	G	A	rs397507950|rs81002874		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr13:32937315G>A	ENST00000380152.3	+	18	8209		c.e18-1		BRCA2_ENST00000544455.1_Splice_Site			P51587	BRCA2_HUMAN	breast cancer 2, early onset						brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.?(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCACTTTTAGATATGATACG	0.328			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Unknown(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	GRCh37	CS030294	BRCA2	S	rs81002874	c.e18-1	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							40.0	39.0	39.0					13																	32937315		2202	4299	6501	SO:0001630	splice_region_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937315G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7977-1G>A	13.37:g.32937315G>A		TCGA Ovarian(8;0.087)					p.R2659_splice	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8204	+		Lung SC(185;0.0262)						O00183|O15008|Q13879|Q5TBJ7	Splice_Site	SNP	ENST00000380152.3	37	c.7977_splice	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178481	0.78564	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5097	0.90911	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BRCA2	31835315	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.420000	0.97426	2.451000	0.82905	0.467000	0.42956	.		PASS	0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	Intron	14	24	14	24	---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46357979	46357979	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr13:46357979C>T	ENST00000400405.2	-	2	455	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	117					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E117K(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGGCGGCCTTCCCACTGGCAG	0.667																																						uc001vap.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)GAA>AAA		seven in absentia homolog 3							59.0	66.0	64.0					13																	46357979		2091	4216	6307	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357979C>T		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.349G>A	13.37:g.46357979C>T	ENSP00000383256:p.Glu117Lys						p.E117K	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			2	431	-			117			SIAH-type; degenerate.		B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.349G>A	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541991	0.85917	.	.	ENSG00000215475	ENST00000400405	T	0.23754	1.89	5.19	5.19	0.71726	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.378221	0.26341	U	0.024933	T	0.41511	0.1162	L	0.44542	1.39	0.44454	D	0.99738	D	0.55605	0.972	P	0.59595	0.86	T	0.23226	-1.0194	10	0.66056	D	0.02	-7.0614	17.7051	0.88306	0.0:1.0:0.0:0.0	.	117	Q8IW03	SIAH3_HUMAN	K	117	ENSP00000383256:E117K	ENSP00000383256:E117K	E	-	1	0	SIAH3	45255980	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.509000	0.53386	2.431000	0.82371	0.561000	0.74099	GAA		PASS	0.667	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		25	56	25	56	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48881481	48881481	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr13:48881481A>G	ENST00000267163.4	+	2	341	c.203A>G	c.(202-204)gAt>gGt	p.D68G		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	68					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.D68G(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGATACCAGATCATGTCAGA	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		20	Whole gene deletion(15)|Unknown(3)|Substitution - Missense(2)	p.0?(13)|p.?(3)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CD982921	RB1	D		c.(202-204)GAT>GGT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						136.0	139.0	138.0					13																	48881481		2203	4300	6503	SO:0001583	missense	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881481A>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.203A>G	13.37:g.48881481A>G	ENSP00000267163:p.Asp68Gly	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.D68G	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	369	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	68					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.203A>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.528545	0.44969	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.92647	-3.08	4.72	2.1	0.27182	.	0.181321	0.47852	N	0.000216	D	0.84955	0.5587	L	0.42245	1.32	0.46631	D	0.999135	P	0.39060	0.657	B	0.35182	0.197	T	0.80959	-0.1149	10	0.66056	D	0.02	.	4.2834	0.10843	0.6872:0.2054:0.1074:0.0	.	68	P06400	RB_HUMAN	G	47;68	ENSP00000267163:D68G	ENSP00000267163:D68G	D	+	2	0	RB1	47779482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.906000	0.39887	0.767000	0.33267	0.528000	0.53228	GAT		PASS	0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			13	43	13	43	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103504584	103504584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr13:103504584C>T	ENST00000355739.4	+	2	1628	c.205C>T	c.(205-207)Cga>Tga	p.R69*	ERCC5_ENST00000535557.1_Nonsense_Mutation_p.R69*|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S494L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	69	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.R69*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATTTTTTCGAATTCGTCC	0.373			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(205-207)CGA>TGA	Direct_reversal_of_damage|NER	XPG-complementing protein							138.0	137.0	137.0					13																	103504584		2203	4300	6503	SO:0001587	stop_gained	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103504584C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.205C>T	13.37:g.103504584C>T	ENSP00000347978:p.Arg69*					ERCC5_uc001vpu.1_Nonsense_Mutation_p.R523*|ERCC5_uc010tjb.1_Nonsense_Mutation_p.R69*|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_5'UTR	p.R69*	NM_000123	NP_000114	P28715	ERCC5_HUMAN			2	648	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		69			N-domain.		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Nonsense_Mutation	SNP	ENST00000355739.4	37	c.205C>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	39	7.486373	0.98312	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	.	.	.	5.39	2.32	0.28847	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1652	15.1514	0.72703	0.4198:0.5802:0.0:0.0	.	.	.	.	X	494;69;69	.	ENSP00000347978:R69X	R	+	1	2	ERCC5	102302585	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.522000	0.45572	0.614000	0.30107	0.579000	0.79373	CGA		PASS	0.373	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			6	64	6	64	---	---	---	---
COCH	1690	broad.mit.edu	37	14	31349801	31349801	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:31349801G>C	ENST00000396618.3	+	8	546	c.490G>C	c.(490-492)Gca>Cca	p.A164P	COCH_ENST00000475087.1_Missense_Mutation_p.A164P|COCH_ENST00000460581.2_Missense_Mutation_p.A52P|COCH_ENST00000382493.4_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.A164P	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	164					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.A164P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AGATTGTAAAGCAGACATTGC	0.413																																						uc001wqr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(490-492)GCA>CCA		cochlin precursor							139.0	146.0	144.0					14																	31349801		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31349801G>C		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.490G>C	14.37:g.31349801G>C	ENSP00000379862:p.Ala164Pro					COCH_uc001wqp.2_Missense_Mutation_p.A164P|COCH_uc001wqq.3_Missense_Mutation_p.A164P|uc001wqs.2_Intron|COCH_uc001wqt.1_5'UTR	p.A164P	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	8	570	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		164					A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.490G>C	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.260163|4.260163	0.80246|0.80246	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908;ENST00000555881;ENST00000460581;ENST00000542225|ENST00000468826	T;T;T;T;T;T|T	0.79653|0.37584	1.06;1.06;1.06;-1.29;-1.29;1.06|1.19	5.56|5.56	5.56|5.56	0.83823|0.83823	von Willebrand factor, type A (1);|.	0.160942|.	0.56097|.	D|.	0.000029|.	T|T	0.39911|0.39911	0.1096|0.1096	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.61080|.	0.989;0.989|.	P;P|.	0.53912|.	0.737;0.737|.	T|T	0.05699|0.05699	-1.0869|-1.0869	10|6	0.54805|.	T|.	0.06|.	-18.5595|-18.5595	19.5255|19.5255	0.95203|0.95203	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	164;164|.	Q96IU6;O43405|.	.;COCH_HUMAN|.	P|N	164;164;164;148;46;52;52|3	ENSP00000216361:A164P;ENSP00000379862:A164P;ENSP00000451528:A164P;ENSP00000452541:A148P;ENSP00000452569:A46P;ENSP00000451713:A52P|ENSP00000452284:K3N	ENSP00000216361:A164P|.	A|K	+|+	1|3	0|2	COCH|COCH	30419552|30419552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.174000|4.174000	0.58256|0.58256	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	GCA|AAG		PASS	0.413	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		50	44	50	44	---	---	---	---
DNAAF2	55172	broad.mit.edu	37	14	50101477	50101477	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:50101477A>T	ENST00000298292.8	-	1	471	c.391T>A	c.(391-393)Tac>Aac	p.Y131N	DNAAF2_ENST00000406043.3_Missense_Mutation_p.Y131N	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	131					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)		p.Y131N(2)		kidney(1)|lung(4)	5						CGCCCCGCGTACTCGCGGCCG	0.746																																						uc001wws.3																			2	Substitution - Missense(2)		lung(2)		0						c.(391-393)TAC>AAC		kintoun isoform 1							8.0	9.0	8.0					14																	50101477		1877	4040	5917	SO:0001583	missense	55172	Kartagener_syndrome			axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50101477A>T	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.391T>A	14.37:g.50101477A>T	ENSP00000298292:p.Tyr131Asn					SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.Y131N	p.Y131N	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			1	472	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		131					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.391T>A	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	A	13.42	2.231591	0.39399	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.16324	2.35;2.35	5.31	5.31	0.75309	.	.	.	.	.	T	0.16854	0.0405	L	0.43152	1.355	0.37934	D	0.932108	P;B	0.42518	0.782;0.274	B;B	0.41813	0.367;0.246	T	0.07712	-1.0758	9	0.33940	T	0.23	.	10.7655	0.46291	0.711:0.2889:0.0:0.0	.	131;131	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	N	131	ENSP00000298292:Y131N;ENSP00000384862:Y131N	ENSP00000298292:Y131N	Y	-	1	0	DNAAF2	49171227	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	4.614000	0.61183	2.020000	0.59435	0.374000	0.22700	TAC		PASS	0.746	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			6	6	6	6	---	---	---	---
NAA30	122830	broad.mit.edu	37	14	57858325	57858325	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:57858325G>C	ENST00000556492.1	+	2	804	c.650G>C	c.(649-651)cGa>cCa	p.R217P	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	217	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.R217P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CGATATGTCCGATATGAATCC	0.507																																						uc001xcx.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(649-651)CGA>CCA		N-acetyltransferase 12							127.0	143.0	137.0					14																	57858325		2203	4300	6503	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57858325G>C	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.650G>C	14.37:g.57858325G>C	ENSP00000452521:p.Arg217Pro					NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	p.R217P	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN			2	804	+			217			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.650G>C	CCDS32088.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310778	0.40895	.	.	ENSG00000139977	ENST00000556492;ENST00000395257	T	0.68181	-0.31	4.47	4.47	0.54385	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.000000	0.64402	D	0.000001	T	0.46151	0.1378	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.42155	-0.9468	10	0.40728	T	0.16	0.0121	12.7986	0.57573	0.0815:0.0:0.9185:0.0	.	217	Q147X3	NAA30_HUMAN	P	217;180	ENSP00000452521:R217P	ENSP00000298406:R217P	R	+	2	0	NAA30	56928078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.937000	0.75898	2.308000	0.77769	0.655000	0.94253	CGA		PASS	0.507	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		94	90	94	90	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64681149	64681149	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:64681149G>A	ENST00000344113.4	+	106	19506	c.19294G>A	c.(19294-19296)Gaa>Aaa	p.E6432K	SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6374K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E215K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6432K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E310K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E66K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3066K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2817K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2817K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6432					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.E6432K(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)		CTCCTCTCACGAAGAGGACGA	0.627																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(19294-19296)GAA>AAA		spectrin repeat containing, nuclear envelope 2							36.0	36.0	36.0					14																	64681149		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.chr14:64681149G>A	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.19294G>A	14.37:g.64681149G>A	ENSP00000341781:p.Glu6432Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.E6432K|SYNE2_uc010apy.2_Missense_Mutation_p.E2817K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1394K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E402K|SYNE2_uc001xgq.2_Missense_Mutation_p.E797K|SYNE2_uc001xgr.2_Missense_Mutation_p.E215K|SYNE2_uc010tsi.1_Missense_Mutation_p.E66K|SYNE2_uc001xgs.2_Missense_Mutation_p.E66K|SYNE2_uc001xgt.2_5'Flank	p.E6432K	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)	106	19524	+			6432			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.19294G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734376	0.48939	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046	T;T;T;T;T;T;T;T;T	0.66099	0.36;3.81;0.49;-0.19;3.68;3.81;3.62;3.14;2.61	5.27	5.27	0.74061	.	0.000000	0.50627	D	0.000105	T	0.74642	0.3743	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.995;1.0	D;D;D;D;D;D;D	0.91635	0.98;0.996;0.999;0.93;0.959;0.916;0.997	T	0.76116	-0.3077	10	0.72032	D	0.01	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	66;2817;66;820;6374;6432;6432	B4DND7;Q8WXH0-7;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	K	6432;2817;6432;6374;6380;3066;2817;310;215;66	ENSP00000350719:E6432K;ENSP00000349969:E2817K;ENSP00000341781:E6432K;ENSP00000452570:E6374K;ENSP00000450831:E3066K;ENSP00000378249:E2817K;ENSP00000451009:E310K;ENSP00000450605:E215K;ENSP00000391937:E66K	ENSP00000261678:E6380K	E	+	1	0	SYNE2	63750902	1.000000	0.71417	0.999000	0.59377	0.695000	0.40330	5.972000	0.70448	2.735000	0.93741	0.655000	0.94253	GAA		PASS	0.627	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		26	22	26	22	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68238912	68238912	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:68238912T>A	ENST00000347230.4	-	28	5474	c.5336A>T	c.(5335-5337)cAt>cTt	p.H1779L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H1779L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1779					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.H1779L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ACTAGGGGAATGTATACTGGA	0.498																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(5335-5337)CAT>CTT		zinc finger, FYVE domain containing 26							28.0	29.0	29.0					14																	68238912		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68238912T>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5336A>T	14.37:g.68238912T>A	ENSP00000251119:p.His1779Leu					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H1779L	p.H1779L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	28	5475	-			1779					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5336A>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	3.383	-0.126028	0.06795	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27557	1.8;1.66	5.89	-0.334	0.12666	.	1.005170	0.07990	N	0.986933	T	0.23766	0.0575	L	0.44542	1.39	0.09310	N	1	B;B	0.23249	0.082;0.002	B;B	0.25140	0.058;0.001	T	0.36432	-0.9748	10	0.11485	T	0.65	3.5159	9.165	0.37046	0.0:0.4404:0.0:0.5596	.	1779;1779	G3V2D8;Q68DK2	.;ZFY26_HUMAN	L	1779;1758;1779	ENSP00000251119:H1779L;ENSP00000450603:H1779L	ENSP00000251119:H1779L	H	-	2	0	ZFYVE26	67308665	0.997000	0.39634	0.021000	0.16686	0.306000	0.27790	0.430000	0.21428	0.031000	0.15407	0.533000	0.62120	CAT		PASS	0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		3	4	3	4	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68256124	68256124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:68256124G>A	ENST00000347230.4	-	16	3085	c.2947C>T	c.(2947-2949)Cag>Tag	p.Q983*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.Q983*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	983					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.Q983*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTCCAGAGCTGGCACTGAGAG	0.557																																						uc001xka.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|breast(2)	11						c.(2947-2949)CAG>TAG		zinc finger, FYVE domain containing 26							74.0	78.0	77.0					14																	68256124		2203	4300	6503	SO:0001587	stop_gained	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68256124G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2947C>T	14.37:g.68256124G>A	ENSP00000251119:p.Gln983*					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.Q983*	p.Q983*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	16	3086	-			983					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	37	c.2947C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	43	10.140332	0.99345	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.8	5.8	0.92144	.	0.132626	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-10.9582	20.0522	0.97631	0.0:0.0:1.0:0.0	.	.	.	.	X	983;962;983	.	ENSP00000251119:Q983X	Q	-	1	0	ZFYVE26	67325877	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.520000	0.81821	2.737000	0.93849	0.563000	0.77884	CAG		PASS	0.557	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		6	92	6	92	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68256132	68256132	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:68256132G>C	ENST00000347230.4	-	16	3077	c.2939C>G	c.(2938-2940)tCt>tGt	p.S980C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S980C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	980					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S980C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGGCACTGAGAGCAAGCTAG	0.547																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(2938-2940)TCT>TGT		zinc finger, FYVE domain containing 26							75.0	80.0	78.0					14																	68256132		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68256132G>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2939C>G	14.37:g.68256132G>C	ENSP00000251119:p.Ser980Cys					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S980C	p.S980C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	16	3078	-			980					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.2939C>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394508	0.25205	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.25414	1.93;1.8	5.8	0.378	0.16204	.	0.374926	0.29646	N	0.011576	T	0.14960	0.0361	N	0.10733	0.035	0.24273	N	0.995239	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.0	T	0.10314	-1.0635	10	0.27785	T	0.31	-0.7744	20.3967	0.98985	0.0:0.5732:0.4268:0.0	.	980;980	G3V2D8;Q68DK2	.;ZFY26_HUMAN	C	980;959;980	ENSP00000251119:S980C;ENSP00000450603:S980C	ENSP00000251119:S980C	S	-	2	0	ZFYVE26	67325885	1.000000	0.71417	0.845000	0.33349	0.980000	0.70556	1.883000	0.39658	-0.202000	0.10268	-0.302000	0.09304	TCT		PASS	0.547	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		8	89	8	89	---	---	---	---
STON2	85439	broad.mit.edu	37	14	81744567	81744567	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:81744567T>C	ENST00000267540.2	-	4	1288	c.1088A>G	c.(1087-1089)tAc>tGc	p.Y363C	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.Y363C	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	363					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.Y363C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGCATCCTGGTAGATGACAAT	0.448																																						uc010tvu.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(2)	5						c.(1087-1089)TAC>TGC		stonin 2							113.0	116.0	115.0					14																	81744567		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744567T>C	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1088A>G	14.37:g.81744567T>C	ENSP00000267540:p.Tyr363Cys					STON2_uc001xvk.1_Missense_Mutation_p.Y363C|STON2_uc010tvt.1_Missense_Mutation_p.Y160C	p.Y363C	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1289	-			363					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.1088A>G	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.495824	0.44352	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.12147	2.71;2.72	6.17	5.04	0.67666	.	0.212931	0.41712	D	0.000837	T	0.20047	0.0482	L	0.51422	1.61	0.29288	N	0.869543	D;D	0.63046	0.985;0.992	P;P	0.53146	0.527;0.719	T	0.06789	-1.0807	10	0.51188	T	0.08	-25.1775	7.8067	0.29206	0.0:0.0688:0.1397:0.7915	.	363;363	Q8WXE9;G3V2T7	STON2_HUMAN;.	C	363;375;363	ENSP00000450857:Y363C;ENSP00000267540:Y363C	ENSP00000267540:Y363C	Y	-	2	0	STON2	80814320	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.408000	0.34668	2.371000	0.80710	0.533000	0.62120	TAC		PASS	0.448	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		63	58	63	58	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95932315	95932315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:95932315G>A	ENST00000334258.5	-	3	594	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	SYNE3_ENST00000557275.1_Nonsense_Mutation_p.Q194*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.Q194*	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	194					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.Q194*(3)		breast(1)|endometrium(2)|lung(25)	28						ATTCTCTTCTGGGCATCTTCG	0.612																																						uc001yei.3																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(1)	1						c.(580-582)CAG>TAG		nesprin-3							143.0	111.0	122.0					14																	95932315		2203	4300	6503	SO:0001587	stop_gained	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95932315G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.580C>T	14.37:g.95932315G>A	ENSP00000334308:p.Gln194*					C14orf49_uc010avi.2_Nonsense_Mutation_p.Q194*|C14orf49_uc001yej.1_Nonsense_Mutation_p.Q194*	p.Q194*	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	3	595	-		all_cancers(154;0.0937)	194			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Nonsense_Mutation	SNP	ENST00000334258.5	37	c.580C>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.782733	0.90282	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	.	.	.	4.12	4.12	0.48240	.	0.000000	0.36234	N	0.002708	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-23.344	16.4125	0.83723	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000334308:Q194X	Q	-	1	0	C14orf49	95002068	1.000000	0.71417	0.988000	0.46212	0.381000	0.30169	9.218000	0.95166	1.828000	0.53243	0.298000	0.19748	CAG		PASS	0.612	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		42	61	42	61	---	---	---	---
WDR25	79446	broad.mit.edu	37	14	100950396	100950396	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr14:100950396C>T	ENST00000335290.6	+	4	1262	c.1036C>T	c.(1036-1038)Cac>Tac	p.H346Y	WDR25_ENST00000402312.3_Missense_Mutation_p.H346Y|WDR25_ENST00000554998.1_Missense_Mutation_p.H346Y|WDR25_ENST00000542471.2_Missense_Mutation_p.H89Y	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	346								p.H346Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCCAAAAGACCACAACATCTT	0.408																																						uc010avx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)CAC>TAC		WD repeat domain 25							142.0	142.0	142.0					14																	100950396		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100950396C>T	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1036C>T	14.37:g.100950396C>T	ENSP00000334148:p.His346Tyr					WDR25_uc001yhm.2_Missense_Mutation_p.H338Y|WDR25_uc001yhn.2_Missense_Mutation_p.H346Y|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Missense_Mutation_p.H89Y	p.H346Y	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN			4	1129	+		Melanoma(154;0.212)	346			WD 3.		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.1036C>T	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.679042	0.68042	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.151145	0.44483	D	0.000447	T	0.32526	0.0832	L	0.42245	1.32	0.36332	D	0.858913	D;P	0.53745	0.962;0.94	P;B	0.44597	0.454;0.36	T	0.30534	-0.9975	10	0.46703	T	0.11	-9.1739	16.7553	0.85498	0.0:1.0:0.0:0.0	.	89;346	Q64LD2-2;Q64LD2	.;WDR25_HUMAN	Y	346;346;346;89	ENSP00000450661:H346Y;ENSP00000385540:H346Y;ENSP00000334148:H346Y;ENSP00000441903:H89Y	ENSP00000334148:H346Y	H	+	1	0	WDR25	100020149	0.179000	0.23135	0.987000	0.45799	0.953000	0.61014	2.210000	0.42816	2.701000	0.92244	0.655000	0.94253	CAC		PASS	0.408	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		44	86	44	86	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811400	23811400	+	Silent	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:23811400G>C	ENST00000314520.3	+	1	947	c.471G>C	c.(469-471)gcG>gcC	p.A157A	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	157					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A157A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGAAGTGGCGGAAGCCCCCC	0.642																																						uc001ywh.3																			1	Substitution - coding silent(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(469-471)GCG>GCC		makorin ring finger protein 3							26.0	28.0	28.0					15																	23811400		2202	4299	6501	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811400G>C	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.471G>C	15.37:g.23811400G>C						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A157A	p.A157A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	947	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	157						Silent	SNP	ENST00000314520.3	37	c.471G>C	CCDS10013.1																																																																																				PASS	0.642	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		18	47	18	47	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28460816	28460816	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:28460816T>G	ENST00000261609.7	-	39	6269	c.6161A>C	c.(6160-6162)aAg>aCg	p.K2054T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.K2054T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCACGACCTTCATGAGCAG	0.632																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(6160-6162)AAG>ACG		hect domain and RLD 2							22.0	20.0	21.0					15																	28460816		2202	4297	6499	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28460816T>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6161A>C	15.37:g.28460816T>G	ENSP00000261609:p.Lys2054Thr						p.K2054T	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	39	6267	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2054						Missense_Mutation	SNP	ENST00000261609.7	37	c.6161A>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.517112	0.27123	.	.	ENSG00000128731	ENST00000261609	T	0.38887	1.11	4.28	0.642	0.17765	.	0.416573	0.24254	N	0.040157	T	0.25606	0.0623	L	0.36672	1.1	0.38481	D	0.947719	B	0.26400	0.148	B	0.24006	0.05	T	0.07009	-1.0795	10	0.21540	T	0.41	.	5.4671	0.16650	0.0:0.1584:0.1471:0.6945	.	2054	O95714	HERC2_HUMAN	T	2054	ENSP00000261609:K2054T	ENSP00000261609:K2054T	K	-	2	0	HERC2	26134411	1.000000	0.71417	0.121000	0.21740	0.971000	0.66376	2.146000	0.42216	-0.054000	0.13266	0.397000	0.26171	AAG		PASS	0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		14	31	14	31	---	---	---	---
GREM1	26585	broad.mit.edu	37	15	33023077	33023077	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:33023077A>T	ENST00000300177.4	+	2	375	c.186A>T	c.(184-186)caA>caT	p.Q62H	GREM1_ENST00000560677.1_Intron|GREM1_ENST00000560830.1_Intron|GREM1_ENST00000322805.4_Intron	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	62					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.Q62H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GGCGGGGCCAAGGGCGGGGCA	0.662																																						uc001zhe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CAA>CAT		gremlin-1 precursor							20.0	25.0	23.0					15																	33023077		2199	4296	6495	SO:0001583	missense	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023077A>T		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.186A>T	15.37:g.33023077A>T	ENSP00000300177:p.Gln62His					GREM1_uc001zhd.1_Intron|GREM1_uc010uby.1_Intron	p.Q62H	NM_013372	NP_037504	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	345	+		all_lung(180;1.49e-09)	62					Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	ENST00000300177.4	37	c.186A>T	CCDS10029.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194375	0.38806	.	.	ENSG00000166923	ENST00000300177	T	0.32515	1.45	5.78	-10.4	0.00318	.	0.246048	0.32372	N	0.006189	T	0.11665	0.0284	N	0.08118	0	0.41839	D	0.990112	B	0.02656	0.0	B	0.01281	0.0	T	0.26985	-1.0087	10	0.44086	T	0.13	-25.2199	14.2203	0.65823	0.2325:0.1711:0.5964:0.0	.	62	O60565	GREM1_HUMAN	H	62	ENSP00000300177:Q62H	ENSP00000300177:Q62H	Q	+	3	2	GREM1	30810369	0.009000	0.17119	0.314000	0.25224	0.977000	0.68977	-0.959000	0.03853	-2.043000	0.00913	-0.290000	0.09829	CAA		PASS	0.662	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		12	43	12	43	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42678366	42678367	+	Splice_Site	DNP	GG	GG	TT			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:42678366_42678367GG>TT	ENST00000397163.3	+	3	600_601	c.381_382GG>TT	c.(379-384)ggGGac>ggTTac	p.D128Y	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Splice_Site_p.D128Y|CAPN3_ENST00000357568.3_Splice_Site_p.D128Y|CAPN3_ENST00000356316.3_Splice_Site_p.D41Y|CAPN3_ENST00000349748.3_Splice_Site_p.D128Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	128	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D41Y(2)|p.D128Y(2)|p.G40G(1)|p.G127G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGCCTGCAGGGGACTGCTGGTT	0.564											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zpn.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	central_nervous_system(1)	1						c.(379-381)GGG>GGT|c.(382-384)GAC>TAC		calpain 3 isoform a																																				SO:0001630	splice_region_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42678366G>T|g.chr15:42678367G>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	Exception_encountered	15.37:g.42678366_42678367delinsTT			OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	910	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Silent_p.G40G|CAPN3_uc010udf.1_Silent_p.G40G|CAPN3_uc010udg.1_Silent_p.G40G|CAPN3_uc001zpo.1_Silent_p.G127G|CAPN3_uc001zpp.1_Silent_p.G127G|CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.D41Y|CAPN3_uc010udf.1_Missense_Mutation_p.D41Y|CAPN3_uc010udg.1_Missense_Mutation_p.D41Y|CAPN3_uc001zpo.1_Missense_Mutation_p.D128Y|CAPN3_uc001zpp.1_Missense_Mutation_p.D128Y	p.G127G|p.D128Y	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	3	687|688	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	127|128			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent|Missense_Mutation	SNP	ENST00000397163.3	37	c.381G>T|c.382G>T	CCDS45245.1																																																																																				PASS	0.564	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		Missense_Mutation	46|45	106|105	45	105	---	---	---	---
LCMT2	9836	broad.mit.edu	37	15	43622200	43622200	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:43622200C>A	ENST00000305641.5	-	1	603	c.488G>T	c.(487-489)cGg>cTg	p.R163L	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	163					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.R163L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CTGGAGCTGCCGCAAGTCCAG	0.697																																						uc001zrg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)CGG>CTG		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						28.0	34.0	32.0					15																	43622200		2194	4293	6487	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622200C>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.488G>T	15.37:g.43622200C>A	ENSP00000307214:p.Arg163Leu					LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.R163L	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	692	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	163					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.488G>T	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159159	0.78226	.	.	ENSG00000168806	ENST00000305641	T	0.25250	1.81	5.54	3.67	0.42095	.	0.353232	0.26650	N	0.023208	T	0.46268	0.1384	M	0.92784	3.345	0.80722	D	1	P	0.52842	0.956	P	0.50970	0.655	T	0.54022	-0.8355	10	0.72032	D	0.01	-0.3204	8.4522	0.32877	0.0:0.8259:0.0:0.1741	.	163	O60294	LCMT2_HUMAN	L	163	ENSP00000307214:R163L	ENSP00000307214:R163L	R	-	2	0	LCMT2	41409492	0.994000	0.37717	1.000000	0.80357	0.961000	0.63080	2.330000	0.43885	0.899000	0.36444	0.655000	0.94253	CGG		PASS	0.697	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		33	47	33	47	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44888526	44888527	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:44888526_44888527GG>TT	ENST00000261866.7	-	25	4204_4205	c.4188_4189CC>AA	c.(4186-4191)agCCca>agAAca	p.1396_1397SP>RT	SPG11_ENST00000427534.2_Missense_Mutation_p.1396_1397SP>RT|SPG11_ENST00000535302.2_Missense_Mutation_p.1396_1397SP>RT|SPG11_ENST00000558319.1_Missense_Mutation_p.1396_1397SP>RT	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1396					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.S1396R(1)|p.P1397T(1)|p.S1396_P1397>RT(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAATGACTGGGCTGAAGTACT	0.45																																						uc001ztx.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(4)|skin(1)	5						c.(4189-4191)CCA>ACA|c.(4186-4188)AGC>AGA		spatacsin isoform 1																																				SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44888526G>T|g.chr15:44888527G>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4188_4189delinsTT	15.37:g.44888526_44888527delinsTT	ENSP00000261866:p.S1396_P1397delinsRT					SPG11_uc010ueh.1_Missense_Mutation_p.P1397T|SPG11_uc010uei.1_Missense_Mutation_p.P1397T|SPG11_uc001zty.1_Missense_Mutation_p.P126T|SPG11_uc010ueh.1_Missense_Mutation_p.S1396R|SPG11_uc010uei.1_Missense_Mutation_p.S1396R|SPG11_uc001zty.1_Missense_Mutation_p.S125R	p.P1397T|p.S1396R	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	25	4220|4219	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1397|1396			Cytoplasmic (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.4189C>A|c.4188C>A	CCDS10112.1																																																																																				PASS	0.450	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			19|18	64|63	18	63	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60768275	60768275	+	Missense_Mutation	SNP	C	C	A	rs145938558		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:60768275C>A	ENST00000261520.4	-	3	367	c.133G>T	c.(133-135)Gtt>Ttt	p.V45F	NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000561114.1_Missense_Mutation_p.V45F|NARG2_ENST00000439632.1_5'UTR	NM_024611.4	NP_078887.2												p.V45F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTGGATAAAACACGTAGTTCT	0.313																																						uc002agp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(133-135)GTT>TTT		NMDA receptor regulated 2 isoform a							49.0	53.0	52.0					15																	60768275		2201	4296	6497	SO:0001583	missense	79664					nucleus		g.chr15:60768275C>A																												ENST00000261520.4:c.133G>T	15.37:g.60768275C>A	ENSP00000261520:p.Val45Phe					NARG2_uc002ago.2_5'UTR|NARG2_uc010bgk.2_Missense_Mutation_p.V45F|NARG2_uc002agr.1_Missense_Mutation_p.V45F	p.V45F	NM_024611	NP_078887	Q659A1	NARG2_HUMAN			3	368	-			45						Missense_Mutation	SNP	ENST00000261520.4	37	c.133G>T	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.596630	0.28445	.	.	ENSG00000128915	ENST00000261520	.	.	.	5.73	-4.22	0.03800	.	0.694941	0.14535	N	0.313650	T	0.16599	0.0399	N	0.14661	0.345	0.18873	N	0.999982	B	0.23735	0.09	B	0.21360	0.034	T	0.09079	-1.0691	9	0.54805	T	0.06	-1.6482	6.3689	0.21471	0.1018:0.505:0.1038:0.2893	.	45	Q659A1	NARG2_HUMAN	F	45	.	ENSP00000261520:V45F	V	-	1	0	NARG2	58555567	0.003000	0.15002	0.002000	0.10522	0.834000	0.47266	-0.276000	0.08514	-1.001000	0.03434	0.655000	0.94253	GTT		PASS	0.313	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			10	31	10	31	---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82574477	82574477	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:82574477G>A	ENST00000339465.5	+	3	340	c.271G>A	c.(271-273)Gac>Aac	p.D91N	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.D76N	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	91								p.D91N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TAGAGCTTGGGACCTTCATAA	0.328																																						uc002bgv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(271-273)GAC>AAC		hypothetical protein LOC283726							70.0	74.0	73.0					15																	82574477		2202	4300	6502	SO:0001583	missense	283726							g.chr15:82574477G>A	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.271G>A	15.37:g.82574477G>A	ENSP00000340445:p.Asp91Asn					FAM154B_uc010unr.1_Missense_Mutation_p.D76N|FAM154B_uc010uns.1_RNA	p.D91N	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN			3	340	+			91					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.271G>A	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129494	0.21041	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.17854	2.25;2.25	3.57	2.64	0.31445	.	0.074960	0.50627	D	0.000106	T	0.22282	0.0537	L	0.28400	0.85	0.34394	D	0.694542	D;D	0.76494	0.967;0.999	P;D	0.68621	0.723;0.959	T	0.07443	-1.0772	10	0.10377	T	0.69	-15.6747	11.6565	0.51322	0.0945:0.0:0.9055:0.0	.	76;91	B4E2M2;Q658L1	.;F154B_HUMAN	N	91;76	ENSP00000340445:D91N;ENSP00000403743:D76N	ENSP00000340445:D91N	D	+	1	0	FAM154B	80361532	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	3.401000	0.52601	1.981000	0.57761	0.536000	0.68110	GAC		PASS	0.328	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		38	77	38	77	---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358599	102358599	+	Silent	SNP	T	T	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr15:102358599T>C	ENST00000332238.4	+	1	234	c.210T>C	c.(208-210)gaT>gaC	p.D70D		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D70D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAATCATTGATATGGCATTTT	0.423																																						uc010uts.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)GAT>GAC		olfactory receptor, family 4, subfamily F,							238.0	206.0	217.0					15																	102358599		2203	4300	6503	SO:0001819	synonymous_variant	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358599T>C	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.210T>C	15.37:g.102358599T>C							p.D70D	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	210	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		70			Helical; Name=2; (Potential).		B2RNQ5|Q6IF57|Q96R70	Silent	SNP	ENST00000332238.4	37	c.210T>C	CCDS32342.1																																																																																				PASS	0.423	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		65	246	65	246	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15818093	15818093	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr16:15818093G>T	ENST00000300036.5	-	31	4399	c.4290C>A	c.(4288-4290)gaC>gaA	p.D1430E	NDE1_ENST00000396355.1_Silent_p.S331S|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000342673.5_Silent_p.S331S|MYH11_ENST00000396324.3_Missense_Mutation_p.D1437E|MYH11_ENST00000452625.2_Missense_Mutation_p.D1437E|MYH11_ENST00000576790.2_Missense_Mutation_p.D1430E|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000396354.1_Silent_p.S331S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1430					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.D1430E(1)|p.D1437E(1)|p.S331S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAACCAGGTCGTCCAGCTCCT	0.537			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(4288-4290)GAC>GAA		smooth muscle myosin heavy chain 11 isoform							91.0	86.0	88.0					16																	15818093		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15818093G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4290C>A	16.37:g.15818093G>T	ENSP00000300036:p.Asp1430Glu					MYH11_uc002ddv.2_Missense_Mutation_p.D1437E|MYH11_uc002ddw.2_Missense_Mutation_p.D1430E|MYH11_uc002ddx.2_Missense_Mutation_p.D1437E|MYH11_uc010bvg.2_Missense_Mutation_p.D1262E|NDE1_uc010uzy.1_Silent_p.S331S|NDE1_uc002dds.2_Silent_p.S331S|MYH11_uc010bvh.2_Missense_Mutation_p.D136E|NDE1_uc002ddz.1_RNA	p.D1430E	NM_002474	NP_002465	P35749	MYH11_HUMAN			31	4397	-			1430			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4290C>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	7.470	0.646511	0.14451	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.17	-7.41	0.01392	Myosin tail (1);	0.056727	0.64402	D	0.000001	T	0.59810	0.2221	.	.	.	0.45366	D	0.998353	B;B;B;B;B	0.25272	0.098;0.122;0.122;0.122;0.122	B;B;B;B;B	0.41691	0.265;0.196;0.196;0.196;0.364	T	0.54735	-0.8249	9	0.02654	T	1	.	16.6616	0.85242	0.8137:0.0:0.1863:0.0	.	1437;1430;1437;1430;1437	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	E	1430;1430;1437;1437;1437	ENSP00000300036:D1430E;ENSP00000345136:D1430E;ENSP00000379616:D1437E;ENSP00000407821:D1437E	ENSP00000300036:D1430E	D	-	3	2	MYH11	15725594	0.294000	0.24380	0.847000	0.33407	0.637000	0.38172	-0.250000	0.08830	-1.452000	0.01931	-1.686000	0.00732	GAC		PASS	0.537	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		14	64	14	64	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20974654	20974654	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr16:20974654A>G	ENST00000261383.3	-	53	10551	c.10552T>C	c.(10552-10554)Tgt>Cgt	p.C3518R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3518	AAA 6. {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.C3518R(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)		AAAGGCGCACAGCAGCTGGAA	0.517																																						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.(10552-10554)TGT>CGT		dynein, axonemal, heavy chain 3							108.0	100.0	103.0					16																	20974654		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.chr16:20974654A>G	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.10552T>C	16.37:g.20974654A>G	ENSP00000261383:p.Cys3518Arg					DNAH3_uc010vbd.1_Missense_Mutation_p.C953R	p.C3518R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10552	-			3518			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10552T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311528	0.40895	.	.	ENSG00000158486	ENST00000261383	T	0.07800	3.16	5.47	5.47	0.80525	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	L	0.39326	1.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07712	-1.0758	10	0.08179	T	0.78	.	15.5461	0.76101	1.0:0.0:0.0:0.0	.	3518	Q8TD57	DYH3_HUMAN	R	3518	ENSP00000261383:C3518R	ENSP00000261383:C3518R	C	-	1	0	DNAH3	20882155	1.000000	0.71417	0.102000	0.21198	0.761000	0.43186	4.175000	0.58263	2.074000	0.62210	0.533000	0.62120	TGT		PASS	0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		17	47	17	47	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30392759	30392759	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr16:30392759A>G	ENST00000571393.1	-	6	527	c.341T>C	c.(340-342)tTt>tCt	p.F114S	SEPT1_ENST00000605106.1_Missense_Mutation_p.F119S|SEPT1_ENST00000321367.3_Missense_Mutation_p.F161S|SEPT1_ENST00000570039.1_5'Flank			Q8WYJ6	SEPT1_HUMAN	septin 1	114	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.F114S(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GTACTGCTCAAATTGCTCCTC	0.587																																						uc002dxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)TTT>TCT		septin 1							106.0	99.0	101.0					16																	30392759		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30392759A>G	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.341T>C	16.37:g.30392759A>G	ENSP00000460441:p.Phe114Ser					SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.F161S	p.F114S	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		6	528	-			114					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.341T>C		.	.	.	.	.	.	.	.	.	.	A	17.67	3.448086	0.63178	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000009	T	0.76018	0.3929	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.78458	-0.2196	9	0.87932	D	0	.	14.9425	0.71006	1.0:0.0:0.0:0.0	.	161;114	B4E0I4;Q8WYJ6	.;SEPT1_HUMAN	S	114	.	ENSP00000324511:F114S	F	-	2	0	SEPT1	30300260	1.000000	0.71417	0.996000	0.52242	0.053000	0.15095	9.283000	0.95860	2.236000	0.73375	0.482000	0.46254	TTT		PASS	0.587	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		44	101	44	101	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670404	49670404	+	Missense_Mutation	SNP	C	C	A	rs147413663	byFrequency	TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr16:49670404C>A	ENST00000561648.1	-	4	2712	c.2659G>T	c.(2659-2661)Ggc>Tgc	p.G887C	ZNF423_ENST00000562520.1_Missense_Mutation_p.G827C|ZNF423_ENST00000262383.2_Missense_Mutation_p.G887C|ZNF423_ENST00000567169.1_Missense_Mutation_p.G770C|ZNF423_ENST00000562871.1_Missense_Mutation_p.G827C|ZNF423_ENST00000563137.2_Missense_Mutation_p.G827C|ZNF423_ENST00000535559.1_Missense_Mutation_p.G770C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	887					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G887C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGTCACAGCCGTACATGGGC	0.627																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2659-2661)GGC>TGC		zinc finger protein 423							72.0	67.0	69.0					16																	49670404		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670404C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2659G>T	16.37:g.49670404C>A	ENSP00000455426:p.Gly887Cys					ZNF423_uc010vgn.1_Missense_Mutation_p.G770C	p.G887C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2957	-		all_cancers(37;0.0155)	887			C2H2-type 21; degenerate.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2659G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782467	0.70222	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09163	3.01;3.03	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.051483	0.85682	D	0.000000	T	0.24353	0.0590	L	0.39514	1.22	0.47737	D	0.999508	D	0.76494	0.999	D	0.69307	0.963	T	0.01169	-1.1430	9	.	.	.	-37.8834	17.8857	0.88854	0.0:1.0:0.0:0.0	.	887	Q2M1K9	ZN423_HUMAN	C	887;770	ENSP00000262383:G887C;ENSP00000442321:G770C	.	G	-	1	0	ZNF423	48227905	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.811000	0.86092	2.234000	0.73211	0.561000	0.74099	GGC		PASS	0.627	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		16	65	16	65	---	---	---	---
IRX3	79191	broad.mit.edu	37	16	54318159	54318159	+	Splice_Site	SNP	G	G	A	rs551235367		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr16:54318159G>A	ENST00000329734.3	-	3	2162	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	484					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R484W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GTTTCTTACCGCCTGGGCACG	0.617																																					GBM(143;1830 1866 4487 4646 37383)	uc002eht.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1450-1452)CGG>TGG		iroquois homeobox 3							42.0	39.0	40.0					16																	54318159		2198	4300	6498	SO:0001630	splice_region_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54318159G>A	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1451+1C>T	16.37:g.54318159G>A							p.R484W	NM_024336	NP_077312	P78415	IRX3_HUMAN			3	1866	-			484					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.1450C>T	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427014	0.83667	.	.	ENSG00000177508	ENST00000329734	T	0.60299	0.2	4.67	2.59	0.31030	.	0.168444	0.34959	N	0.003554	T	0.66257	0.2771	L	0.42245	1.32	0.36716	D	0.880905	D	0.89917	1.0	D	0.75020	0.985	T	0.72561	-0.4256	10	0.87932	D	0	-10.116	12.2297	0.54480	0.0:0.0:0.5535:0.4464	.	484	P78415	IRX3_HUMAN	W	484	ENSP00000331608:R484W	ENSP00000331608:R484W	R	-	1	2	IRX3	52875660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.345000	0.33953	0.620000	0.30215	0.555000	0.69702	CGG		PASS	0.617	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2		Missense_Mutation	6	23	6	23	---	---	---	---
MT1H	4496	broad.mit.edu	37	16	56704808	56704809	+	Splice_Site	DNP	AG	AG	TT			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr16:56704808_56704809AG>TT	ENST00000332374.4	+	3	165		c.e3-1		MT1G_ENST00000568675.1_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000444837.2_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.?(3)		lung(5)	5						CTTTTTCCCCAGGCTGCTGCTC	0.619																																						uc002ejw.2																			3	Unknown(3)		lung(3)		0						c.e3-2|c.e3-1		metallothionein 1H																																				SO:0001630	splice_region_variant	4496						metal ion binding|protein binding	g.chr16:56704808A>T|g.chr16:56704809G>T	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	Exception_encountered	16.37:g.56704808_56704809delinsTT						MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank	p.S32_splice	NM_005951	NP_005942	P80294	MT1H_HUMAN			3	166	+								B2RUY6	Splice_Site	SNP	ENST00000332374.4	37	c.95_splice	CCDS10767.1																																																																																				PASS	0.619	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951	Intron	22	99|101	22	99	---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67316121	67316121	+	Silent	SNP	A	A	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr16:67316121A>T	ENST00000360461.5	+	8	3657	c.1122A>T	c.(1120-1122)ctA>ctT	p.L374L	PLEKHG4_ENST00000427155.2_Silent_p.L374L|PLEKHG4_ENST00000450733.1_Silent_p.L293L|PLEKHG4_ENST00000379344.3_Silent_p.L374L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	374							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L374L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GTCAGCTGCTACAGCAGACAG	0.602																																						uc002eso.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)|pancreas(1)	2						c.(1120-1122)CTA>CTT		pleckstrin homology domain containing, family G							53.0	56.0	55.0					16																	67316121		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67316121A>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1122A>T	16.37:g.67316121A>T						PLEKHG4_uc002esp.3_Silent_p.L181L|PLEKHG4_uc002esq.3_Silent_p.L374L|PLEKHG4_uc010cef.2_Silent_p.L374L|PLEKHG4_uc002ess.3_Silent_p.L374L|PLEKHG4_uc010ceg.2_Silent_p.L293L	p.L374L	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	8	3657	+			374					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.1122A>T	CCDS32466.1																																																																																				PASS	0.602	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		27	85	27	85	---	---	---	---
PARD6A	50855	broad.mit.edu	37	16	67695950	67695950	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr16:67695950C>G	ENST00000219255.3	+	3	521	c.441C>G	c.(439-441)gaC>gaG	p.D147E	PARD6A_ENST00000602551.1_Missense_Mutation_p.D117E|PARD6A_ENST00000458121.2_Missense_Mutation_p.D146E|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	147	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)	p.D147E(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGTCATAGACGTGGACCTAC	0.627																																						uc002ett.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)GAC>GAG		par-6 partitioning defective 6 homolog alpha							69.0	71.0	71.0					16																	67695950		2198	4300	6498	SO:0001583	missense	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67695950C>G		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.441C>G	16.37:g.67695950C>G	ENSP00000219255:p.Asp147Glu					ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.D146E|PARD6A_uc002etu.2_5'UTR	p.D147E	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	532	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	147			Pseudo-CRIB.|Interaction with PARD3 and CDC42 (By similarity).		O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	c.441C>G	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402628	0.62288	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.46063	0.88;0.88	5.07	-1.68	0.08212	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.84219	2.685	0.47214	D	0.999355	D;D	0.69078	0.996;0.997	D;D	0.85130	0.997;0.996	T	0.61392	-0.7072	10	0.52906	T	0.07	-11.9681	10.4757	0.44663	0.0:0.4746:0.0:0.5254	.	147;146	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	E	146;147	ENSP00000392388:D146E;ENSP00000219255:D147E	ENSP00000219255:D147E	D	+	3	2	PARD6A	66253451	0.002000	0.14202	0.996000	0.52242	0.978000	0.69477	-1.490000	0.02304	-0.250000	0.09555	-0.339000	0.08088	GAC		PASS	0.627	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948		14	58	14	58	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr17:7577609C>A	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAGAGCCAACCTAGGAGATAA	0.527		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		43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(12)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(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	CS011061	TP53	S		c.e7-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							89.0	75.0	80.0					17																	7577609		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7577609C>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.673-1G>T	17.37:g.7577609C>A		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_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	p.V225_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	867	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.673_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748399	0.69533	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.		PASS	0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	34	21	34	21	---	---	---	---
ALOX15B	247	broad.mit.edu	37	17	7950907	7950907	+	Silent	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr17:7950907G>T	ENST00000380183.4	+	12	1744	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R	ALOX15B_ENST00000573359.1_Silent_p.R461R|ALOX15B_ENST00000572022.1_Silent_p.R523R|ALOX15B_ENST00000380173.2_Silent_p.R506R	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	535	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.R535R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGGAGACCCGGGAAGCCCTGG	0.632																																						uc002gju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1603-1605)CGG>CGT		arachidonate 15-lipoxygenase, second type							36.0	35.0	35.0					17																	7950907		2203	4300	6503	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7950907G>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1605G>T	17.37:g.7950907G>T						ALOX15B_uc002gjv.2_Silent_p.R506R|ALOX15B_uc002gjw.2_Silent_p.R461R|ALOX15B_uc010vun.1_Silent_p.R523R|ALOX15B_uc010cnp.2_Silent_p.R341R	p.R535R	NM_001141	NP_001132	O15296	LX15B_HUMAN			12	1721	+			535			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.1605G>T	CCDS11128.1																																																																																				PASS	0.632	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			7	6	7	6	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27064993	27064993	+	Missense_Mutation	SNP	G	G	T	rs140363905		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr17:27064993G>T	ENST00000268766.6	+	7	1080	c.1046G>T	c.(1045-1047)cGc>cTc	p.R349L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	349					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R360L(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGCGTCACGCGCTCTGGGCGT	0.701																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1045-1047)CGC>CTC		NIMA-related kinase 8		G	LEU/ARG	2,4404		0,2,2201	26.0	31.0	29.0		1046	4.6	1.0	17	dbSNP_134	29	0,8594		0,0,4297	no	missense	NEK8	NM_178170.2	102	0,2,6498	TT,TG,GG		0.0,0.0454,0.0154	benign	349/693	27064993	2,12998	2203	4297	6500	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27064993G>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1046G>T	17.37:g.27064993G>T	ENSP00000268766:p.Arg349Leu						p.R349L	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			7	1046	+	Lung NSC(42;0.0158)		349			RCC1 1.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1046G>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715168	0.48622	4.54E-4	0.0	ENSG00000160602	ENST00000268766	T	0.80393	-1.37	5.58	4.61	0.57282	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.057744	0.64402	D	0.000003	T	0.71710	0.3372	L	0.54323	1.7	0.42567	D	0.993169	B	0.24618	0.107	B	0.19666	0.026	T	0.67440	-0.5670	10	0.33141	T	0.24	.	6.0189	0.19618	0.239:0.0:0.761:0.0	.	349	Q86SG6	NEK8_HUMAN	L	349	ENSP00000268766:R349L	ENSP00000268766:R349L	R	+	2	0	NEK8	24089120	1.000000	0.71417	0.999000	0.59377	0.777000	0.43975	5.019000	0.64060	2.642000	0.89623	0.655000	0.94253	CGC		PASS	0.701	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			19	50	19	50	---	---	---	---
PIP4K2B	8396	broad.mit.edu	37	17	36940564	36940564	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr17:36940564T>G	ENST00000269554.3	-	3	766	c.286A>C	c.(286-288)Aag>Cag	p.K96Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	96	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.K96Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CAATACTCCTTAAACTTAAAG	0.433																																						uc002hqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)AAG>CAG		phosphatidylinositol-5-phosphate 4-kinase, type							67.0	64.0	65.0					17																	36940564		2203	4300	6503	SO:0001583	missense	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36940564T>G	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.286A>C	17.37:g.36940564T>G	ENSP00000269554:p.Lys96Gln					PIP4K2B_uc010wdt.1_Missense_Mutation_p.K96Q|PIP4K2B_uc010wdu.1_Missense_Mutation_p.K32Q	p.K96Q	NM_003559	NP_003550	P78356	PI42B_HUMAN			3	767	-			96			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.286A>C	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864867	0.51482	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.32515	1.45	5.55	5.55	0.83447	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.72075	0.946;0.976;0.969	T	0.72447	-0.4291	10	0.87932	D	0	-23.9632	14.6643	0.68896	0.0:0.0:0.0:1.0	.	96;96;96	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	Q	96	ENSP00000269554:K96Q	ENSP00000269554:K96Q	K	-	1	0	PIP4K2B	34194090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.333000	0.79357	0.533000	0.62120	AAG		PASS	0.433	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		14	34	14	34	---	---	---	---
H3F3B	3021	broad.mit.edu	37	17	73780747	73780747	+	Intron	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr17:73780747G>A	ENST00000586607.1	-	1	111				MIR4738_ENST00000579134.1_RNA|UNK_ENST00000293218.3_Missense_Mutation_p.D23N|UNK_ENST00000589666.1_5'Flank			P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.D23N(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		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)			TAGCAGCAAGGATCCCTGGGT	0.562																																						uc002jpm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GAT>AAT		zinc finger CCCH-type domain containing 5							33.0	40.0	38.0					17																	73780747		1941	4136	6077	SO:0001627	intron_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780747G>A	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000586607.1:c.9+709C>T	17.37:g.73780747G>A						UNK_uc002jpn.2_5'Flank|UNK_uc002jpo.2_5'Flank	p.D23N	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)		1	67	+			Error:Variant_position_missing_in_Q9C0B0_after_alignment					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000586607.1	37	c.67G>A	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.283651	0.01398	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.79	4.8	0.61643	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25012	-1.0144	5	0.10902	T	0.67	.	5.8464	0.18669	0.0732:0.1391:0.6435:0.1442	.	.	.	.	N	23	.	ENSP00000293218:D23N	D	+	1	0	UNK	71292342	0.098000	0.21812	0.012000	0.15200	0.029000	0.11900	3.081000	0.50120	1.412000	0.46977	0.655000	0.94253	GAT		PASS	0.562	H3F3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448507.1	NM_005324		4	14	4	14	---	---	---	---
C19orf26	255057	broad.mit.edu	37	19	1235847	1235847	+	Missense_Mutation	SNP	G	G	A	rs374536448		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:1235847G>A	ENST00000382477.2	-	3	432	c.158C>T	c.(157-159)aCg>aTg	p.T53M	C19orf26_ENST00000215376.6_Missense_Mutation_p.T53M|C19orf26_ENST00000590083.1_Missense_Mutation_p.T59M|AC004221.2_ENST00000592843.1_lincRNA			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	53						integral component of membrane (GO:0016021)		p.T53M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CACCACCAGCGTGCCCCCCAC	0.677										HNSCC(14;0.022)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17103	0.001		0.0	False		,,,				2504	0.0					uc002lrm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)ACG>ATG		downstream of Stk11		G	MET/THR	0,4404		0,0,2202	153.0	118.0	130.0		158	1.9	0.0	19		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	C19orf26	NM_152769.2	81	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	53/448	1235847	1,13003	2202	4300	6502	SO:0001583	missense	255057					integral to membrane		g.chr19:1235847G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.158C>T	19.37:g.1235847G>A	ENSP00000371917:p.Thr53Met	HNSCC(14;0.022)					p.T53M	NM_152769	NP_689982	Q8N350	DOS_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)	3	433	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	53			Helical; (Potential).		O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.158C>T		.	.	.	.	.	.	.	.	.	.	G	18.73	3.687111	0.68157	0.0	1.16E-4	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	4.31	1.93	0.25924	.	0.204988	0.38778	N	0.001561	T	0.49270	0.1547	L	0.27053	0.805	0.47621	D	0.999472	D	0.76494	0.999	P	0.56474	0.799	T	0.50816	-0.8783	9	0.87932	D	0	.	8.9252	0.35637	0.0:0.1627:0.6693:0.168	.	53	Q8N350-2	.	M	53	.	ENSP00000215376:T53M	T	-	2	0	C19orf26	1186847	1.000000	0.71417	0.037000	0.18230	0.646000	0.38490	3.952000	0.56691	0.775000	0.33450	0.561000	0.74099	ACG		PASS	0.677	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		38	70	38	70	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7812232	7812232	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:7812232G>A	ENST00000315599.7	-	2	88	c.66C>T	c.(64-66)ggC>ggT	p.G22G	CD209_ENST00000394161.5_Silent_p.G22G|CD209_ENST00000354397.6_Silent_p.G22G|CD209_ENST00000301357.8_Intron|CD209_ENST00000593660.1_Silent_p.G22G|CD209_ENST00000602261.1_Silent_p.G22G|CD209_ENST00000315591.8_Silent_p.G22G|CD209_ENST00000601256.1_Silent_p.G22G|CD209_ENST00000394173.4_Silent_p.G22G|CD209_ENST00000601951.1_Silent_p.G22G|CD209_ENST00000593821.1_Intron|CD209_ENST00000204801.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	22					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.G22G(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGAATCCAAGGCCTCTCAGCT	0.567																																						uc002mht.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(64-66)GGC>GGT		CD209 molecule isoform 1							318.0	325.0	322.0					19																	7812232		2203	4300	6503	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812232G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.66C>T	19.37:g.7812232G>A						CD209_uc010xju.1_Silent_p.G22G|CD209_uc010dvp.2_Silent_p.G22G|CD209_uc002mhr.2_Silent_p.G22G|CD209_uc002mhs.2_Silent_p.G22G|CD209_uc002mhu.2_Silent_p.G22G|CD209_uc010dvq.2_Silent_p.G22G|CD209_uc002mhq.2_Silent_p.G22G|CD209_uc002mhv.2_Silent_p.G22G|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Silent_p.G22G	p.G22G	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			2	133	-			22			Cytoplasmic (Probable).		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.66C>T	CCDS12186.1																																																																																				PASS	0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		133	416	133	416	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9084935	9084935	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:9084935C>A	ENST00000397910.4	-	1	7083	c.6880G>T	c.(6880-6882)Gat>Tat	p.D2294Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2294	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D2294Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCATCCAATCCCCAGGAATA	0.458																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6880-6882)GAT>TAT		mucin 16							55.0	55.0	55.0					19																	9084935		1940	4141	6081	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084935C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6880G>T	19.37:g.9084935C>A	ENSP00000381008:p.Asp2294Tyr						p.D2294Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7084	-			2294			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6880G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.201	-1.045096	0.01997	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	0.225	0.225	0.15325	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.72982	0.979	T	0.41378	-0.9512	7	0.87932	D	0	.	.	.	.	.	2294	B5ME49	.	Y	2294	ENSP00000381008:D2294Y	ENSP00000381008:D2294Y	D	-	1	0	MUC16	8945935	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-0.672000	0.05244	0.300000	0.22699	0.305000	0.20034	GAT		PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	15	8	15	---	---	---	---
DAND5	199699	broad.mit.edu	37	19	13084218	13084218	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:13084218G>A	ENST00000317060.2	+	2	519	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	114	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)	p.G114S(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CTCCCGGCCCGGCTGCTCAGC	0.617																																						uc002mwc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)GGC>AGC		dante precursor							96.0	93.0	94.0					19																	13084218		2203	4300	6503	SO:0001583	missense	199699					extracellular region		g.chr19:13084218G>A	AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"""DAN domain family, member 5"""			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.340G>A	19.37:g.13084218G>A	ENSP00000323155:p.Gly114Ser					DAND5_uc010dyz.1_3'UTR	p.G114S	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)		2	383	+			114			CTCK.			Missense_Mutation	SNP	ENST00000317060.2	37	c.340G>A	CCDS12291.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261667	0.59431	.	.	ENSG00000179284	ENST00000317060	T	0.37584	1.19	5.94	4.91	0.64330	DAN (1);	0.000000	0.46758	D	0.000263	T	0.58119	0.2100	M	0.74258	2.255	0.46376	D	0.999017	D	0.89917	1.0	D	0.87578	0.998	T	0.62025	-0.6941	10	0.72032	D	0.01	-14.4105	10.8849	0.46962	0.086:0.0:0.914:0.0	.	114	Q8N907	DAND5_HUMAN	S	114	ENSP00000323155:G114S	ENSP00000323155:G114S	G	+	1	0	DAND5	12945218	0.990000	0.36364	0.708000	0.30435	0.132000	0.20833	2.408000	0.44574	1.524000	0.49035	0.655000	0.94253	GGC		PASS	0.617	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1	NM_152654		29	81	29	81	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17122287	17122287	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:17122287G>A	ENST00000443236.1	-	5	645	c.614C>T	c.(613-615)cCt>cTt	p.P205L	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P158L|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	158						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P205L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTCGTTGACAGGCCTCAGATT	0.572																																						uc002nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(613-615)CCT>CTT		C3 and PZP-like, alpha-2-macroglobulin domain							97.0	97.0	97.0					19																	17122287		1937	4132	6069	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122287G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.614C>T	19.37:g.17122287G>A	ENSP00000402505:p.Pro205Leu						p.P205L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			5	646	-			158					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.614C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550626	0.45383	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.73897	-0.79;-0.79	3.16	3.16	0.36331	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.64402	U	0.000010	D	0.86535	0.5956	M	0.87180	2.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.88842	0.3313	10	0.72032	D	0.01	.	13.2701	0.60155	0.0:0.0:1.0:0.0	.	158	Q8IZJ3	CPMD8_HUMAN	L	205;158	ENSP00000291440:P205L;ENSP00000373577:P158L	ENSP00000291440:P205L	P	-	2	0	CPAMD8	16983287	1.000000	0.71417	0.750000	0.31169	0.282000	0.26991	6.720000	0.74723	1.333000	0.45449	0.655000	0.94253	CCT		PASS	0.572	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		40	101	40	101	---	---	---	---
CAPN12	147968	broad.mit.edu	37	19	39230753	39230753	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:39230753C>T	ENST00000328867.4	-	5	975	c.667G>A	c.(667-669)Ggg>Agg	p.G223R	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.G74R	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	223	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.G223R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAGAACAGCCCCATGCTGTTT	0.627																																						uc002ojd.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(667-669)GGG>AGG		calpain 12							43.0	38.0	40.0					19																	39230753		2203	4300	6503	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39230753C>T	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.667G>A	19.37:g.39230753C>T	ENSP00000331636:p.Gly223Arg						p.G223R	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		5	976	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		223			Calpain catalytic.			Missense_Mutation	SNP	ENST00000328867.4	37	c.667G>A	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417788	0.42918	.	.	ENSG00000182472	ENST00000328867	D	0.87256	-2.23	4.82	3.79	0.43588	Peptidase C2, calpain, catalytic domain (3);	.	.	.	.	D	0.86611	0.5974	L	0.28458	0.855	0.36103	D	0.844284	D	0.61080	0.989	P	0.60682	0.878	D	0.88281	0.2936	9	0.72032	D	0.01	.	8.7255	0.34467	0.0:0.8943:0.0:0.1057	.	223	Q6ZSI9	CAN12_HUMAN	R	223	ENSP00000331636:G223R	ENSP00000331636:G223R	G	-	1	0	CAPN12	43922593	0.995000	0.38212	0.912000	0.35992	0.685000	0.39939	3.195000	0.51013	1.023000	0.39654	0.455000	0.32223	GGG		PASS	0.627	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			16	32	16	32	---	---	---	---
LGALS14	56891	broad.mit.edu	37	19	40199883	40199883	+	Missense_Mutation	SNP	C	C	A	rs141177809		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:40199883C>A	ENST00000392052.3	+	4	573	c.350C>A	c.(349-351)cCg>cAg	p.P117Q	LGALS14_ENST00000360675.3_Missense_Mutation_p.P146Q	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	117	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.P146Q(1)|p.P117Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CATCGATTCCCGCCAGCATCT	0.463																																						uc002omg.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(349-351)CCG>CAG		lectin, galactoside-binding, soluble, 14 isoform							104.0	100.0	102.0					19																	40199883		2203	4300	6503	SO:0001583	missense	56891					nucleus	sugar binding	g.chr19:40199883C>A	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.350C>A	19.37:g.40199883C>A	ENSP00000375905:p.Pro117Gln					LGALS14_uc002omf.2_Missense_Mutation_p.P146Q	p.P117Q	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		4	573	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	117			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	c.350C>A	CCDS46073.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.245940	0.22796	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.21734	1.99;1.99	0.902	-0.391	0.12446	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.39545	0.1082	M	0.78223	2.4	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.988;0.989	T	0.17167	-1.0378	9	0.72032	D	0.01	.	3.8971	0.09144	0.4159:0.5841:0.0:0.0	.	117;146	Q8TCE9;A8MPV8	PPL13_HUMAN;.	Q	117;146	ENSP00000375905:P117Q;ENSP00000353893:P146Q	ENSP00000353893:P146Q	P	+	2	0	LGALS14	44891723	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-1.337000	0.02657	-0.083000	0.12618	0.313000	0.20887	CCG		PASS	0.463	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		11	40	11	40	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42880163	42880163	+	Missense_Mutation	SNP	G	G	T	rs148860986		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:42880163G>T	ENST00000251268.6	+	42	7774	c.7774G>T	c.(7774-7776)Gtg>Ttg	p.V2592L	MEGF8_ENST00000334370.4_Missense_Mutation_p.V2525L|MEGF8_ENST00000378073.4_Missense_Mutation_p.V186L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2592					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.V2133L(1)|p.V2525L(1)|p.V2592L(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGTCCGCGGCGTGCGGGACCG	0.692																																						uc002otl.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(7573-7575)GTG>TTG		multiple EGF-like-domains 8							49.0	51.0	50.0					19																	42880163		2186	4274	6460	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880163G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7774G>T	19.37:g.42880163G>T	ENSP00000251268:p.Val2592Leu					MEGF8_uc002otm.3_Missense_Mutation_p.V2133L|MEGF8_uc002otn.3_Missense_Mutation_p.V186L	p.V2525L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			41	8208	+		Prostate(69;0.00682)	2592			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7573G>T		.	.	.	.	.	.	.	.	.	.	G	5.884	0.347224	0.11126	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.19806	2.12;2.12	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000006	T	0.24928	0.0605	N	0.12182	0.205	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.79108	0.988;0.944;0.992	T	0.01739	-1.1284	10	0.02654	T	1	-6.3069	17.7125	0.88326	0.0:0.0:1.0:0.0	.	186;2592;2525	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	L	2525;2592;186	ENSP00000334219:V2525L;ENSP00000251268:V2592L	ENSP00000251268:V2592L	V	+	1	0	MEGF8	47572003	1.000000	0.71417	0.950000	0.38849	0.174000	0.22865	8.816000	0.91979	2.569000	0.86673	0.561000	0.74099	GTG		PASS	0.692	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		8	52	8	52	---	---	---	---
GRWD1	83743	broad.mit.edu	37	19	48953722	48953722	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:48953722C>G	ENST00000253237.5	+	4	854	c.621C>G	c.(619-621)atC>atG	p.I207M		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	207						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I207M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGAAGCCCATCTTCTCCTTCG	0.667																																						uc002pjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)ATC>ATG		glutamate-rich WD repeat containing 1							67.0	69.0	68.0					19																	48953722		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48953722C>G	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.621C>G	19.37:g.48953722C>G	ENSP00000253237:p.Ile207Met						p.I207M	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	4	854	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	207					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.621C>G	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480164	0.26598	.	.	ENSG00000105447	ENST00000253237	T	0.01464	4.86	3.69	2.54	0.30619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.137173	0.49916	D	0.000122	T	0.02533	0.0077	L	0.52126	1.63	0.39730	D	0.971593	B	0.21753	0.06	B	0.25987	0.065	T	0.48658	-0.9016	10	0.46703	T	0.11	-28.2298	11.4529	0.50164	0.0:0.7062:0.2938:0.0	.	207	Q9BQ67	GRWD1_HUMAN	M	207	ENSP00000253237:I207M	ENSP00000253237:I207M	I	+	3	3	GRWD1	53645534	0.993000	0.37304	1.000000	0.80357	0.901000	0.52897	0.323000	0.19593	2.071000	0.62044	0.561000	0.74099	ATC		PASS	0.667	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		32	85	32	85	---	---	---	---
PIH1D1	55011	broad.mit.edu	37	19	49949859	49949859	+	Silent	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:49949859C>A	ENST00000262265.5	-	8	1015	c.780G>T	c.(778-780)ccG>ccT	p.P260P	PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Silent_p.P260P	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	260					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)		p.P260P(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TGATCTGCAGCGGGATATAAG	0.627																																						uc002pns.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(778-780)CCG>CCT		NOP17							62.0	69.0	67.0					19																	49949859		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49949859C>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.780G>T	19.37:g.49949859C>A						uc002pnr.1_5'Flank	p.P260P	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	8	1064	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	260					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.780G>T	CCDS12765.1																																																																																				PASS	0.627	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		34	101	34	101	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55179347	55179347	+	Silent	SNP	G	G	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:55179347G>A	ENST00000391736.1	+	14	1539	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	LILRB4_ENST00000430952.2_Silent_p.Q407Q|LILRB4_ENST00000391733.3_Silent_p.Q409Q|LILRB4_ENST00000270452.2_Silent_p.Q408Q|LILRB4_ENST00000391734.3_Silent_p.Q355Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	408					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.Q408Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AAGCCCCCCAGGATGTGACCT	0.642																																						uc002qgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1222-1224)CAG>CAA		leukocyte immunoglobulin-like receptor,							65.0	70.0	68.0					19																	55179347		2203	4300	6503	SO:0001819	synonymous_variant	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179347G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1224G>A	19.37:g.55179347G>A						LILRB4_uc002qgq.2_Silent_p.Q407Q|LILRB4_uc002qgr.2_Silent_p.Q450Q|LILRB4_uc010ert.2_Silent_p.Q449Q|LILRB4_uc010eru.2_Silent_p.Q438Q	p.Q408Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1586	+			408			Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	c.1224G>A	CCDS12902.1																																																																																				PASS	0.642	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			32	88	32	88	---	---	---	---
ZNF544	27300	broad.mit.edu	37	19	58772270	58772270	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr19:58772270A>G	ENST00000596652.1	+	6	532	c.298A>G	c.(298-300)Agg>Ggg	p.R100G	ZNF544_ENST00000594384.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.R72G|ZNF544_ENST00000269829.4_Missense_Mutation_p.R100G|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.R72G|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.R72G|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	100					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.R100G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGATCGAGCTAGGGAAGAACT	0.463																																						uc010euo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(298-300)AGG>GGG		zinc finger protein 544							63.0	60.0	61.0					19																	58772270		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772270A>G	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.298A>G	19.37:g.58772270A>G	ENSP00000469635:p.Arg100Gly					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.R72G|ZNF544_uc010yhy.1_Missense_Mutation_p.R72G|ZNF544_uc002qrt.3_5'UTR|ZNF544_uc002qru.3_5'UTR|uc002qrx.1_Intron	p.R100G	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	772	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	100					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.298A>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	2.936	-0.220018	0.06061	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.07800	3.23;3.16	2.95	-2.36	0.06663	.	.	.	.	.	T	0.03871	0.0109	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42015	-0.9476	9	0.33940	T	0.23	.	2.8324	0.05504	0.3832:0.0:0.416:0.2008	.	72;72;100	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	G	100;72	ENSP00000269829:R100G;ENSP00000394341:R72G	ENSP00000269829:R100G	R	+	1	2	ZNF544	63464082	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.765000	0.04730	-0.513000	0.06496	-1.857000	0.00563	AGG		PASS	0.463	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		9	18	9	18	---	---	---	---
SLC52A3	113278	broad.mit.edu	37	20	746322	746322	+	Nonsense_Mutation	SNP	C	C	A	rs199861879		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr20:746322C>A	ENST00000217254.7	-	2	338	c.97G>T	c.(97-99)Gag>Tag	p.E33*	SLC52A3_ENST00000381944.3_Nonsense_Mutation_p.E33*|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	33					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.E33*(1)									TCGGGCAGCTCCATCACCAGC	0.647																																						uc002wed.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(97-99)GAG>TAG		hypothetical protein LOC113278 precursor							36.0	37.0	37.0					20																	746322		2203	4300	6503	SO:0001587	stop_gained	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:746322C>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.97G>T	20.37:g.746322C>A	ENSP00000217254:p.Glu33*					C20orf54_uc002wee.2_Nonsense_Mutation_p.E33*	p.E33*	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	436	-			33					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Nonsense_Mutation	SNP	ENST00000217254.7	37	c.97G>T	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	37	6.119245	0.97300	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	.	.	.	5.62	2.44	0.29823	.	0.473582	0.24960	N	0.034232	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-12.6644	9.1613	0.37023	0.0:0.7311:0.1235:0.1454	.	.	.	.	X	33	.	ENSP00000217254:E33X	E	-	1	0	C20orf54	694322	0.060000	0.20803	0.885000	0.34714	0.983000	0.72400	0.579000	0.23788	1.362000	0.46000	0.655000	0.94253	GAG		PASS	0.647	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		11	23	11	23	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34797497	34797497	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr20:34797497G>C	ENST00000338074.2	+	15	1917	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H	EPB41L1_ENST00000441639.1_Missense_Mutation_p.D512H|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000202028.5_Missense_Mutation_p.D512H|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.D586H|EPB41L1_ENST00000373950.2_Missense_Mutation_p.D477H	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	586					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.D586H(1)|p.D875H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGAGGACCAGGACCAGGAGAG	0.607																																						uc002xfb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1756-1758)GAC>CAC		erythrocyte membrane protein band 4.1-like 1							99.0	87.0	91.0					20																	34797497		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34797497G>C	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1756G>C	20.37:g.34797497G>C	ENSP00000337168:p.Asp586His					EPB41L1_uc002xeu.2_Missense_Mutation_p.D512H|EPB41L1_uc010zvo.1_Missense_Mutation_p.D586H|EPB41L1_uc002xev.2_Missense_Mutation_p.D586H|EPB41L1_uc002xew.2_Missense_Mutation_p.D477H|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.D512H|EPB41L1_uc010gfq.2_Missense_Mutation_p.D685H	p.D586H	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			15	1927	+	Breast(12;0.0239)		586					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1756G>C	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852308	0.71719	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.88586	-2.4;-2.34;-2.4;-2.37;-2.33	5.87	5.87	0.94306	.	0.360554	0.29424	N	0.012183	D	0.90494	0.7022	L	0.32530	0.975	0.58432	D	0.999998	D;D;D;D;P;P	0.89917	0.996;1.0;0.996;0.995;0.917;0.95	P;D;P;P;P;P	0.73380	0.846;0.98;0.846;0.871;0.62;0.789	D	0.89403	0.3697	10	0.46703	T	0.11	-11.927	12.8356	0.57771	0.074:0.0:0.926:0.0	.	586;875;586;477;477;512	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	H	512;477;586;477;512;875;586;586	ENSP00000202028:D512H;ENSP00000363061:D477H;ENSP00000399214:D512H;ENSP00000337168:D586H;ENSP00000363052:D586H	ENSP00000202028:D512H	D	+	1	0	EPB41L1	34260911	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.050000	0.71063	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.607	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		15	36	15	36	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40049481	40049481	+	Missense_Mutation	SNP	C	C	A	rs113050531	byFrequency	TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr20:40049481C>A	ENST00000373233.3	-	31	5971	c.5794G>T	c.(5794-5796)Gct>Tct	p.A1932S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1932					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.A1932S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTGCTGGAGCGGGGAAAGCC	0.498																																						uc002xka.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5794-5796)GCT>TCT		chromodomain helicase DNA binding protein 6							115.0	109.0	111.0					20																	40049481		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049481C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5794G>T	20.37:g.40049481C>A	ENSP00000362330:p.Ala1932Ser						p.A1932S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5972	-		Myeloproliferative disorder(115;0.00425)	1932					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5794G>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.825778	0.00004	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	0.235	-0.47	0.12131	.	.	.	.	.	T	0.62913	0.2467	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46748	-0.9169	8	0.09843	T	0.71	.	.	.	.	.	1932	Q8TD26	CHD6_HUMAN	S	1932	ENSP00000362330:A1932S	ENSP00000362330:A1932S	A	-	1	0	CHD6	39482895	0.004000	0.15560	0.007000	0.13788	0.050000	0.14768	-0.534000	0.06150	-0.673000	0.05259	-0.661000	0.03856	GCT		PASS	0.498	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			50	106	50	106	---	---	---	---
MYBL2	4605	broad.mit.edu	37	20	42328597	42328597	+	Silent	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr20:42328597G>T	ENST00000217026.4	+	7	991	c.864G>T	c.(862-864)ctG>ctT	p.L288L	MYBL2_ENST00000396863.4_Silent_p.L264L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	288					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L288L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAACGAGCCTGCCTTACAAGT	0.582																																						uc002xlb.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|kidney(2)	5						c.(862-864)CTG>CTT		MYB-related protein B							82.0	59.0	67.0					20																	42328597		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42328597G>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.864G>T	20.37:g.42328597G>T						MYBL2_uc010zwj.1_Silent_p.L264L|MYBL2_uc002xla.1_Silent_p.L288L	p.L288L	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	1079	+		Myeloproliferative disorder(115;0.00452)	288					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.864G>T	CCDS13322.1																																																																																				PASS	0.582	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		21	29	21	29	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46020944	46020944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr21:46020944C>A	ENST00000380102.2	+	1	448	c.423C>A	c.(421-423)tgC>tgA	p.C141*	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	141	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTTCATGCTGCCAGCAGTCTA	0.617																																						uc002zfn.3																			0					0						c.(406-408)TGC>TGA		keratin associated protein 10-7							138.0	138.0	138.0					21																	46020944		2194	4300	6494	SO:0001587	stop_gained	386675					keratin filament		g.chr21:46020944C>A	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.423C>A	21.37:g.46020944C>A	ENSP00000369445:p.Cys141*					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C136*	NM_198689	NP_941962	P60409	KR107_HUMAN			2	433	+			141			9.|30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Nonsense_Mutation	SNP	ENST00000380102.2	37	c.408C>A		.	.	.	.	.	.	.	.	.	.	N	19.98	3.927828	0.73327	.	.	ENSG00000205441	ENST00000380102	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1869	0.25804	0.0:0.8694:0.0:0.1306	.	.	.	.	X	141	.	ENSP00000369445:C141X	C	+	3	2	KRTAP10-7	44845372	0.000000	0.05858	0.997000	0.53966	0.637000	0.38172	-0.516000	0.06282	1.714000	0.51371	0.460000	0.39030	TGC		PASS	0.617	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		37	120	37	120	---	---	---	---
GSTT2	2953	broad.mit.edu	37	22	24323194	24323194	+	Silent	SNP	G	G	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr22:24323194G>T	ENST00000215780.5	+	2	218	c.168G>T	c.(166-168)acG>acT	p.T56T	GSTT2_ENST00000402588.3_Silent_p.T56T|DDT_ENST00000404092.1_5'Flank|DDT_ENST00000350608.3_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	56	GST N-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.T56T(1)		lung(1)	1						AACTGCCGACGCTCAAGGATG	0.557																																						uc002zzb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)ACG>ACT		glutathione S-transferase theta 2							347.0	285.0	306.0					22																	24323194		2203	4298	6501	SO:0001819	synonymous_variant	2953					cytoplasm	glutathione transferase activity	g.chr22:24323194G>T	L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.168G>T	22.37:g.24323194G>T						DDT_uc002zza.3_5'Flank|GSTT2_uc002zzc.3_Silent_p.T56T	p.T56T	NM_000854	NP_000845	P0CG30	GSTT2_HUMAN			2	243	+			56			GST N-terminal.		O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	ENST00000215780.5	37	c.168G>T	CCDS13821.1																																																																																				PASS	0.557	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320080.1	NM_000854		22	172	22	172	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26688759	26688759	+	Missense_Mutation	SNP	C	C	A	rs201671037	byFrequency	TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr22:26688759C>A	ENST00000248933.6	+	2	577	c.482C>A	c.(481-483)aCg>aAg	p.T161K	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T161K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T161K|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000529632.2_Missense_Mutation_p.T161K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T161K			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	161	O-glycosylated at one site.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.T161K(1)|p.T161M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCTCCTCCACGGAGAAGCCT	0.677																																						uc003acb.2																			2	Substitution - Missense(2)	p.T161M(1)	ovary(1)|lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(481-483)ACG>AAG		seizure related 6 homolog (mouse)-like							43.0	41.0	42.0					22																	26688759		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688759C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.482C>A	22.37:g.26688759C>A	ENSP00000248933:p.Thr161Lys					SEZ6L_uc003acc.2_Missense_Mutation_p.T161K|SEZ6L_uc011akc.1_Missense_Mutation_p.T161K|SEZ6L_uc003acd.2_Missense_Mutation_p.T161K|SEZ6L_uc011akd.1_Missense_Mutation_p.T161K|SEZ6L_uc003ace.2_Missense_Mutation_p.T161K|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	p.T161K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			2	638	+			161			Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.482C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	2.336	-0.352224	0.05173	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.28255	1.85;1.98;2.04;1.86;1.62	3.57	1.41	0.22369	.	0.655352	0.12550	U	0.459133	T	0.19886	0.0478	N	0.08118	0	0.09310	N	1	P;P;P;P;P;P	0.47191	0.589;0.589;0.891;0.891;0.589;0.589	B;B;P;P;B;B	0.49597	0.258;0.258;0.54;0.616;0.258;0.258	T	0.08868	-1.0701	10	0.39692	T	0.17	.	5.5725	0.17204	0.1569:0.6553:0.0:0.1878	.	161;161;161;161;161;161	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	K	161	ENSP00000384772:T161K;ENSP00000437037:T161K;ENSP00000354185:T161K;ENSP00000248933:T161K;ENSP00000342661:T161K	ENSP00000248933:T161K	T	+	2	0	SEZ6L	25018759	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	0.883000	0.28200	0.288000	0.22398	0.508000	0.49915	ACG		PASS	0.677	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			25	55	25	55	---	---	---	---
IL2RB	3560	broad.mit.edu	37	22	37539578	37539578	+	Silent	SNP	A	A	G	rs374479635		TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr22:37539578A>G	ENST00000216223.5	-	3	384	c.186T>C	c.(184-186)caT>caC	p.H62H		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	62					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.H62H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCGGCCAGGCATGGACTTGGC	0.547																																						uc003aqv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(184-186)CAT>CAC		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	A		1,4405	2.1+/-5.4	0,1,2202	77.0	66.0	70.0		186	-9.5	0.0	22		70	0,8600		0,0,4300	no	coding-synonymous	IL2RB	NM_000878.2		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		62/552	37539578	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37539578A>G	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.186T>C	22.37:g.37539578A>G							p.H62H	NM_000878	NP_000869	P14784	IL2RB_HUMAN			3	317	-			62			Extracellular (Potential).		B2R765	Silent	SNP	ENST00000216223.5	37	c.186T>C	CCDS13942.1																																																																																				PASS	0.547	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			15	37	15	37	---	---	---	---
AR	367	broad.mit.edu	37	X	66766596	66766596	+	Silent	SNP	G	G	C			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chrX:66766596G>C	ENST00000374690.3	+	1	2132	c.1608G>C	c.(1606-1608)ggG>ggC	p.G536G	AR_ENST00000396044.3_Silent_p.G536G|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.G536G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	535	Modulating.				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.G346G(1)|p.G536G(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)	GACCTTACGGGGACATGCGGT	0.572									Androgen Insensitivity Syndrome																													uc004dwu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(1606-1608)GGG>GGC		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						45.0	33.0	37.0					X																	66766596		2203	4299	6502	SO:0001819	synonymous_variant	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:66766596G>C	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	ENST00000374690.3:c.1608G>C	X.37:g.66766596G>C						AR_uc011mpd.1_Silent_p.G536G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G536G	p.G536G	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	2723	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	535			Modulating.		A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.1608G>C	CCDS14387.1																																																																																				PASS	0.572	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		7	4	7	4	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120181666	120181666	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chrX:120181666C>T	ENST00000328078.1	+	1	205	c.128C>T	c.(127-129)cCg>cTg	p.P43L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	43					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.P43L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GCCTCGCAGCCGGGGCTCGCA	0.751																																						uc004eto.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(127-129)CCG>CTG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						12.0	15.0	14.0					X																	120181666		2122	4146	6268	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181666C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.128C>T	X.37:g.120181666C>T	ENSP00000327589:p.Pro43Leu						p.P43L	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	205	+			43					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.128C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112773	0.56398	.	.	ENSG00000182890	ENST00000328078	D	0.96587	-4.06	1.08	-2.16	0.07080	.	0.367128	0.24825	U	0.035291	D	0.86952	0.6057	N	0.08118	0	0.41626	D	0.988992	B	0.02656	0.0	B	0.01281	0.0	T	0.65245	-0.6215	10	0.54805	T	0.06	.	3.8488	0.08946	0.0:0.4799:0.2102:0.31	.	43	P49448	DHE4_HUMAN	L	43	ENSP00000327589:P43L	ENSP00000327589:P43L	P	+	2	0	GLUD2	120009347	1.000000	0.71417	0.000000	0.03702	0.031000	0.12232	1.766000	0.38491	-1.408000	0.02040	0.172000	0.16884	CCG		PASS	0.751	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		10	19	10	19	---	---	---	---
MRPL9	65005	broad.mit.edu	37	1	151732617	151732617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr1:151732617delA	ENST00000368830.3	-	7	797	c.713delT	c.(712-714)gtgfs	p.V238fs	MRPL9_ENST00000368829.3_Frame_Shift_Del_p.V204fs|MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000315067.8_5'Flank|OAZ3_ENST00000321531.5_5'Flank|RP11-98D18.15_ENST00000601684.1_RNA	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	238					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCAAAGTTCACGACAGACAT	0.468																																						uc001eyv.2																			0				ovary(1)	1						c.(712-714)GTGfs		mitochondrial ribosomal protein L9 precursor							94.0	90.0	92.0					1																	151732617		2203	4300	6503	SO:0001589	frameshift_variant	65005				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:151732617delA	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.713delT	1.37:g.151732617delA	ENSP00000357823:p.Val238fs					MRPL9_uc009wmz.2_RNA	p.V238fs	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	798	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		238					B2RD99|Q5SZR2|Q9BSW8	Frame_Shift_Del	DEL	ENST00000368830.3	37	c.713delT	CCDS1003.1																																																																																					0.468	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		46	22	46	22	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141317098	141317098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr4:141317098delC	ENST00000325617.5	-	10	1464	c.1024delG	c.(1024-1026)gagfs	p.E342fs	CLGN_ENST00000537281.1_Frame_Shift_Del_p.E342fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.E342fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	342	Interaction with PPIB. {ECO:0000250}.				binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TGAGGTGCCTCCCATTCTCCA	0.413																																						uc011chi.1																			0				ovary(2)|skin(1)	3						c.(1024-1026)GAGfs		calmegin precursor							89.0	86.0	87.0					4																	141317098		2203	4300	6503	SO:0001589	frameshift_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317098delC	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1024delG	4.37:g.141317098delC	ENSP00000326699:p.Glu342fs					CLGN_uc003iii.2_Frame_Shift_Del_p.E342fs	p.E342fs	NM_001130675	NP_001124147	O14967	CLGN_HUMAN			11	1242	-	all_hematologic(180;0.162)		342			Lumenal (Potential).|2-1.		B3KS90|B4DXV8|D3DNY8	Frame_Shift_Del	DEL	ENST00000325617.5	37	c.1024delG	CCDS3751.1																																																																																					0.413	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		35	24	35	24	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40360203	40360203	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr6:40360203delG	ENST00000338305.6	-	3	2391	c.1849delC	c.(1849-1851)cgcfs	p.R617fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	617						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCACTGGCGCGGGCCAGGCTG	0.756																																						uc003oph.1																			0				ovary(2)|skin(1)	3						c.(1849-1851)CGCfs		leucine rich repeat and fibronectin type III																																				SO:0001589	frameshift_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360203delG	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1849delC	6.37:g.40360203delG	ENSP00000345985:p.Arg617fs						p.R617fs	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	2314	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		617			Cytoplasmic (Potential).		A5PKU3|Q5SYP9	Frame_Shift_Del	DEL	ENST00000338305.6	37	c.1849delC	CCDS34443.1																																																																																					0.756	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		4	2	4	2	---	---	---	---
MFSD11	79157	broad.mit.edu	37	17	74771143	74771143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr17:74771143delG	ENST00000588460.1	+	11	2981	c.939delG	c.(937-939)ttgfs	p.L313fs	MFSD11_ENST00000593181.1_Frame_Shift_Del_p.L261fs|MFSD11_ENST00000355954.3_Frame_Shift_Del_p.L261fs|MFSD11_ENST00000586622.1_Frame_Shift_Del_p.L313fs|MFSD11_ENST00000590514.1_Frame_Shift_Del_p.L313fs|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000336509.4_Frame_Shift_Del_p.L313fs	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	313						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTGTGCTGTTGGGCATCCTGG	0.453																																						uc002jta.2																			0				ovary(1)	1						c.(937-939)TTGfs		major facilitator superfamily domain containing							193.0	175.0	181.0					17																	74771143		2203	4300	6503	SO:0001589	frameshift_variant	79157					integral to membrane		g.chr17:74771143delG	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.939delG	17.37:g.74771143delG	ENSP00000464932:p.Leu313fs					MFSD11_uc002jtb.2_Frame_Shift_Del_p.L313fs|MFSD11_uc010dha.2_Frame_Shift_Del_p.L261fs|MFSD11_uc002jtc.2_Frame_Shift_Del_p.L313fs|MFSD11_uc002jtd.3_Frame_Shift_Del_p.L313fs|MFSD11_uc010dhb.2_Frame_Shift_Del_p.L261fs|MFSD11_uc002jte.2_Frame_Shift_Del_p.L313fs	p.L313fs	NM_024311	NP_077287	O43934	MFS11_HUMAN			12	1912	+			313			Helical; (Potential).		O43442|Q9NXI5	Frame_Shift_Del	DEL	ENST00000588460.1	37	c.939delG	CCDS11750.1																																																																																					0.453	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		173	79	173	79	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9583268	9583268	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-4086-01A-01D-1352-08	TCGA-18-4086-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9bbdf36b-6804-416f-977d-fce772972bcc	82f334b9-d8be-4c5e-9a9d-1124c000cccd	g.chr18:9583268delG	ENST00000400556.3	-	9	838	c.765delC	c.(763-765)cccfs	p.P255fs	PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Frame_Shift_Del_p.P238fs	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	255					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GGAAAAATCTGGGCAGCTATG	0.408																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1																			0				skin(1)	1						c.(763-765)CCCfs		protein phosphatase 4, regulatory subunit 1							60.0	55.0	56.0					18																	9583268		1873	4110	5983	SO:0001589	frameshift_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9583268delG	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.765delC	18.37:g.9583268delG	ENSP00000383402:p.Pro255fs					PPP4R1_uc010wzo.1_Intron|PPP4R1_uc002kod.1_Frame_Shift_Del_p.P238fs|PPP4R1_uc010wzp.1_RNA	p.P255fs	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			9	883	-			255			HEAT 8.		Q99774|Q9UNQ7	Frame_Shift_Del	DEL	ENST00000400556.3	37	c.765delC	CCDS42412.1																																																																																					0.408	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		36	19	36	19	---	---	---	---
