#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KSR1	8844	broad.mit.edu	37	17	25932772	25932772	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:25932772C>T	ENST00000319524.6	+	15	1993	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	KSR1_ENST00000268763.6_Missense_Mutation_p.R528W|KSR1_ENST00000398988.3_Missense_Mutation_p.R528W|KSR1_ENST00000509603.2_Missense_Mutation_p.R643W			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	665	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGGCAGACGCGGCATGAGAA	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1582-1584)Cgg>Tgg		kinase suppressor of ras 1							20.0	22.0	21.0					17																	25932772		2049	4185	6234	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932772C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1993C>T	17.37:g.25932772C>T	ENSP00000323178:p.Arg665Trp					KSR1_ENST00000268763.6_Missense_Mutation_p.R528W|KSR1_ENST00000509603.2_Missense_Mutation_p.R643W|KSR1_ENST00000319524.6_Missense_Mutation_p.R665W	p.R528W	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	2027	+	Lung NSC(42;0.00836)		663					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1582C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601585|4.601585	0.87055|0.87055	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000398988|ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	.|T;T;T	.|0.48836	.|0.8;0.8;0.8	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83524|0.83524	0.5273|0.5273	H|H	0.99404|0.99404	4.55|4.55	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.997	D|D	0.90674|0.90674	0.4600|0.4600	5|10	.|0.87932	.|D	.|0	.|.	18.7549|18.7549	0.91828|0.91828	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|663;643	.|Q8IVT5;F5H0K8	.|KSR1_HUMAN;.	V|W	378|665;643;528;528	.|ENSP00000323178:R665W;ENSP00000438795:R643W;ENSP00000268763:R528W	.|ENSP00000268763:R528W	A|R	+|+	2|1	0|2	KSR1|KSR1	22956899|22956899	0.981000|0.981000	0.34729|0.34729	0.980000|0.980000	0.43619|0.43619	0.871000|0.871000	0.50021|0.50021	2.624000|2.624000	0.46444|0.46444	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		19	26	0	0	0	1	0	19	26				
SCN2A	6326	broad.mit.edu	37	2	166245292	166245292	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:166245292C>A	ENST00000375437.2	+	27	5266	c.4976C>A	c.(4975-4977)gCg>gAg	p.A1659E	SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659E|SCN2A_ENST00000357398.3_Missense_Mutation_p.A1659E|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1659					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCCTTCCTGCGTTGTTTAAC	0.493																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4975-4977)gCg>gAg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						134.0	128.0	130.0					2																	166245292		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245292C>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4976C>A	2.37:g.166245292C>A	ENSP00000364586:p.Ala1659Glu					SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659E|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659E|SCN2A_ENST00000375437.2_Missense_Mutation_p.A1659E	p.A1659E			Q99250	SCN2A_HUMAN			27	5266	+			1659					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4976C>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767725	0.69878	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99429	0.9798	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98588	1.0653	10	0.87932	D	0	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	1659;1659	Q99250-2;Q99250	.;SCN2A_HUMAN	E	1659	ENSP00000364586:A1659E;ENSP00000349973:A1659E;ENSP00000283256:A1659E;ENSP00000364576:A1659E	ENSP00000283256:A1659E	A	+	2	0	SCN2A	165953538	1.000000	0.71417	0.928000	0.36995	0.922000	0.55478	7.773000	0.85462	2.691000	0.91804	0.552000	0.68991	GCG		0.493	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		49	97	1	0	3.39706e-21	1	3.68014e-21	49	97				
DDIAS	220042	broad.mit.edu	37	11	82643883	82643883	+	Silent	SNP	A	A	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82643883A>T	ENST00000533655.1	+	6	1715	c.1503A>T	c.(1501-1503)ggA>ggT	p.G501G	C11orf82_ENST00000329143.3_Silent_p.G200G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.G501G	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		501					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTGTAAAGGAAATCTAAGTC	0.368																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(1501-1503)ggA>ggT		chromosome 11 open reading frame 82							31.0	31.0	31.0					11																	82643883		2203	4300	6503	SO:0001819	synonymous_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643883A>T																												ENST00000533655.1:c.1503A>T	11.37:g.82643883A>T						C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.G501G|C11orf82_ENST00000329143.3_Silent_p.G200G|C11orf82_ENST00000525361.1_Intron	p.G501G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	1715	+			501					Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	c.1503A>T	CCDS8263.1																																																																																				0.368	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			17	23	0	0	0	1	0	17	23				
KLHDC10	23008	broad.mit.edu	37	7	129761996	129761996	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:129761996A>G	ENST00000335420.5	+	5	867	c.733A>G	c.(733-735)Aca>Gca	p.T245A		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	245						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CAGAGAGTGGACACAACTGAA	0.423																																						ENST00000335420.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(733-735)Aca>Gca		kelch domain containing 10							157.0	123.0	134.0					7																	129761996		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129761996A>G		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.733A>G	7.37:g.129761996A>G	ENSP00000334140:p.Thr245Ala						p.T245A	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN			5	867	+			245					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.733A>G	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.363249	0.24684	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.10960	2.82;2.82	5.47	4.33	0.51752	Galactose oxidase, beta-propeller (1);	0.142114	0.64402	D	0.000009	T	0.09555	0.0235	L	0.45581	1.43	0.40434	D	0.979978	B;B;B	0.20671	0.019;0.004;0.047	B;B;B	0.19666	0.01;0.006;0.026	T	0.12528	-1.0544	10	0.13470	T	0.59	-12.3102	10.0506	0.42214	0.9214:0.0:0.0786:0.0	.	94;102;245	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	A	245;102	ENSP00000334140:T245A;ENSP00000420034:T102A	ENSP00000334140:T245A	T	+	1	0	KLHDC10	129549232	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.387000	0.66243	2.064000	0.61679	0.533000	0.62120	ACA		0.423	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			62	49	0	0	0	1	0	62	49				
ZNF280A	129025	broad.mit.edu	37	22	22869694	22869694	+	Silent	SNP	C	C	T	rs150360634	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:22869694C>T	ENST00000302097.3	-	2	513	c.261G>A	c.(259-261)tcG>tcA	p.S87S	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGCAGGCTGCGACACGTGAG	0.468													C|||	3	0.000599042	0.0008	0.0029	5008	,	,		18252	0.0		0.0	False		,,,				2504	0.0					ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(259-261)tcG>tcA		zinc finger protein 280A		C		0,4406		0,0,2203	199.0	164.0	176.0		261	-3.9	0.0	22	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF280A	NM_080740.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		87/543	22869694	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869694C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.261G>A	22.37:g.22869694C>T							p.S87S	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	513	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	87						Silent	SNP	ENST00000302097.3	37	c.261G>A	CCDS13800.1																																																																																				0.468	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		59	97	0	0	0	1	0	59	97				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	4	60	0	0	0	1	0	4	60				
MS4A12	54860	broad.mit.edu	37	11	60268575	60268575	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:60268575A>G	ENST00000016913.4	+	3	391	c.334A>G	c.(334-336)Ata>Gta	p.I112V	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	112						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTGTGTTTAATATCCTTCTC	0.373																																						ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(334-336)Ata>Gta		membrane-spanning 4-domains, subfamily A, member 12							258.0	250.0	253.0					11																	60268575		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60268575A>G	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.334A>G	11.37:g.60268575A>G	ENSP00000016913:p.Ile112Val					MS4A12_ENST00000537076.1_Intron	p.I112V	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			3	391	+			112					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.334A>G	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	A	9.857	1.195168	0.22037	.	.	ENSG00000071203	ENST00000016913;ENST00000530007	T;T	0.42513	4.46;0.97	4.84	-3.54	0.04653	.	3.591800	0.00682	N	0.000698	T	0.17746	0.0426	N	0.05554	-0.025	0.09310	N	1	B	0.19073	0.033	B	0.20384	0.029	T	0.24977	-1.0145	10	0.02654	T	1	.	3.7068	0.08404	0.1779:0.5543:0.094:0.1738	.	112	Q9NXJ0	M4A12_HUMAN	V	112	ENSP00000016913:I112V;ENSP00000434783:I112V	ENSP00000016913:I112V	I	+	1	0	MS4A12	60025151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.605000	0.02074	-0.234000	0.09782	-0.648000	0.03929	ATA		0.373	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			9	165	0	0	0	1	0	9	165				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			7	45	0	0	0	1	0	7	45				
CA5A	763	broad.mit.edu	37	16	87938397	87938397	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr16:87938397C>T	ENST00000309893.2	-	3	519	c.454G>A	c.(454-456)Gca>Aca	p.A152T		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	152					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	CAAACCTCTGCGGGGTACGCG	0.577																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(454-456)Gca>Aca		carbonic anhydrase VA, mitochondrial							98.0	88.0	92.0					16																	87938397		2198	4300	6498	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87938397C>T	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.454G>A	16.37:g.87938397C>T	ENSP00000309649:p.Ala152Thr						p.A152T	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	3	519	-			152					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.454G>A	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.309203	0.81247	.	.	ENSG00000174990	ENST00000309893	T	0.65549	-0.16	4.22	4.22	0.49857	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.057263	0.64402	D	0.000002	D	0.83454	0.5258	M	0.94021	3.485	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.88241	0.2910	10	0.87932	D	0	-13.1971	14.4554	0.67413	0.0:1.0:0.0:0.0	.	152	P35218	CAH5A_HUMAN	T	152	ENSP00000309649:A152T	ENSP00000309649:A152T	A	-	1	0	CA5A	86495898	1.000000	0.71417	0.535000	0.28026	0.016000	0.09150	5.878000	0.69682	2.034000	0.60081	0.561000	0.74099	GCA		0.577	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		43	101	0	0	0	1	0	43	101				
ZNF614	80110	broad.mit.edu	37	19	52519785	52519785	+	Missense_Mutation	SNP	G	G	A	rs368927052		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:52519785G>A	ENST00000270649.6	-	5	1610	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACAAGATAGCGCTTCATGGTG	0.428																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1066-1068)Cgc>Tgc		zinc finger protein 614		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	129.0	119.0	123.0		1066	-1.0	0.2	19		123	0,8600		0,0,4300	no	missense	ZNF614	NM_025040.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	356/586	52519785	1,13005	2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519785G>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1066C>T	19.37:g.52519785G>A	ENSP00000270649:p.Arg356Cys					ZNF614_ENST00000356322.6_Intron	p.R356C	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1610	-		all_neural(266;0.0505)	356					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1066C>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544394	0.45280	2.27E-4	0.0	ENSG00000142556	ENST00000270649	T	0.08102	3.13	3.8	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09774	0.0240	L	0.41573	1.285	0.09310	N	1	D	0.69078	0.997	P	0.51657	0.676	T	0.22977	-1.0201	9	0.87932	D	0	.	3.1119	0.06361	0.3743:0.0:0.3195:0.3061	.	356	Q8N883	ZN614_HUMAN	C	356	ENSP00000270649:R356C	ENSP00000270649:R356C	R	-	1	0	ZNF614	57211597	0.000000	0.05858	0.208000	0.23602	0.988000	0.76386	-0.870000	0.04228	-0.013000	0.14199	0.655000	0.94253	CGC		0.428	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		11	68	0	0	0	1	0	11	68				
ADAM11	4185	broad.mit.edu	37	17	42855353	42855353	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:42855353C>A	ENST00000200557.6	+	24	2273	c.2104C>A	c.(2104-2106)Cca>Aca	p.P702T	ADAM11_ENST00000535346.1_Missense_Mutation_p.P502T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	702	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CATCTGTCAGCCAGACTGGAC	0.612																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2104-2106)Cca>Aca		ADAM metallopeptidase domain 11							112.0	111.0	112.0					17																	42855353		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855353C>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2104C>A	17.37:g.42855353C>A	ENSP00000200557:p.Pro702Thr					ADAM11_ENST00000535346.1_Missense_Mutation_p.P502T	p.P702T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			24	2273	+		Prostate(33;0.0959)	702			EGF-like.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.2104C>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.242063	0.10077	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.51325	3.16;0.71	4.3	3.32	0.38043	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.217591	0.38217	N	0.001763	T	0.39332	0.1074	L	0.46157	1.445	0.40303	D	0.978632	B;P	0.39022	0.006;0.655	B;B	0.39904	0.004;0.313	T	0.15578	-1.0432	10	0.18710	T	0.47	.	11.0295	0.47763	0.0:0.9061:0.0:0.0939	.	502;702	B4DKD2;O75078	.;ADA11_HUMAN	T	702;502	ENSP00000200557:P702T;ENSP00000443773:P502T	ENSP00000200557:P702T	P	+	1	0	ADAM11	40210879	0.027000	0.19231	1.000000	0.80357	0.977000	0.68977	0.103000	0.15292	1.012000	0.39366	0.561000	0.74099	CCA		0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		5	287	1	0	0.0215528	1	0.0215528	5	287				
BAHD1	22893	broad.mit.edu	37	15	40751367	40751367	+	Missense_Mutation	SNP	G	G	A	rs150307966		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr15:40751367G>A	ENST00000416165.1	+	2	775	c.704G>A	c.(703-705)cGc>cAc	p.R235H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R235H|BAHD1_ENST00000561234.1_Missense_Mutation_p.R235H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	235					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTAGATGGGCGCTCCACTGAG	0.627																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(703-705)cGc>cAc		bromo adjacent homology domain containing 1		G	HIS/ARG	2,4404		0,2,2201	27.0	32.0	30.0		704	1.8	0.4	15	dbSNP_134	30	0,8600		0,0,4300	no	missense	BAHD1	NM_014952.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	235/781	40751367	2,13004	2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751367G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.704G>A	15.37:g.40751367G>A	ENSP00000396976:p.Arg235His					BAHD1_ENST00000416165.1_Missense_Mutation_p.R235H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R235H	p.R235H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	963	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	235					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.704G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	9.976	1.226836	0.22542	4.54E-4	0.0	ENSG00000140320	ENST00000416165	T	0.20463	2.07	4.78	1.82	0.25136	.	0.390634	0.24271	N	0.039999	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.003	T	0.24512	-1.0158	10	0.41790	T	0.15	-4.1151	7.0495	0.25065	0.5292:0.0:0.4708:0.0	.	235;235;235	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	235	ENSP00000396976:R235H	ENSP00000396976:R235H	R	+	2	0	BAHD1	38538659	0.966000	0.33281	0.412000	0.26496	0.977000	0.68977	1.915000	0.39976	0.298000	0.22638	0.655000	0.94253	CGC		0.627	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		27	38	0	0	0	1	0	27	38				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	57	0	0	0	1	0	3	57				
FLG	2312	broad.mit.edu	37	1	152281299	152281299	+	Silent	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:152281299G>A	ENST00000368799.1	-	3	6098	c.6063C>T	c.(6061-6063)ggC>ggT	p.G2021G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2021	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)			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)			CATGCCCAATGCCTGAGTGTC	0.547									Ichthyosis																													ENST00000368799.1																			0				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						c.(6061-6063)ggC>ggT		filaggrin							634.0	523.0	561.0					1																	152281299		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:152281299G>A	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.6063C>T	1.37:g.152281299G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2021G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6098	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2021			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6063C>T	CCDS30860.1																																																																																				0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		25	1025	0	0	0	1	0	25	1025				
SLIT1	6585	broad.mit.edu	37	10	98797514	98797514	+	Silent	SNP	G	G	A	rs141130521	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:98797514G>A	ENST00000266058.4	-	22	2552	c.2307C>T	c.(2305-2307)gaC>gaT	p.D769D	SLIT1_ENST00000371070.4_Silent_p.D769D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	769					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTGGTTCCCGTCCAAATAGC	0.597											OREG0020406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(2305-2307)gaC>gaT		slit homolog 1 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	79.0	64.0	69.0		2307	-8.7	0.7	10	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT1	NM_003061.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		769/1535	98797514	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98797514G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2307C>T	10.37:g.98797514G>A			OREG0020406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1338	SLIT1_ENST00000371070.4_Silent_p.D769D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.D769D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	22	2552	-		Colorectal(252;0.162)	769					Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.2307C>T	CCDS7453.1																																																																																				0.597	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		20	26	0	0	0	1	0	20	26				
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	46										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(136-138)Tat>Cat																																						SO:0001583	missense	0							g.chr20:29625892T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.136T>C	20.37:g.29625892T>C	ENSP00000278882:p.Tyr46His					FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H	p.Y46H							5	516	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.136T>C		.	.	.	.	.	.	.	.	.	.	t	11.71	1.718965	0.30503	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50548	0.74	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	.	.	.	0.48341	D	0.999631	P	0.36837	0.571	P	0.54499	0.754	T	0.46176	-0.9210	9	0.28530	T	0.3	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	51	F5H5R5	.	H	46;51;46	ENSP00000408863:Y51H	ENSP00000278882:Y46H	Y	+	1	0	FRG1B	28239553	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	TAT		0.348	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	110	0	0	0	1	0	4	110				
SLIT3	6586	broad.mit.edu	37	5	168093480	168093480	+	Silent	SNP	G	G	A	rs375394267		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:168093480G>A	ENST00000519560.1	-	36	4970	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.C1524C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1517	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGGCAGCCGCACTCTAAGT	0.627																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4549-4551)tgC>tgT		slit homolog 3 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	39.0	31.0	34.0		4551	-4.6	1.0	5		34	0,8600		0,0,4300	no	coding-synonymous	SLIT3	NM_003062.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1517/1524	168093480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093480G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4551C>T	5.37:g.168093480G>A						SLIT3_ENST00000332966.8_Silent_p.C1524C|CTC-558O2.2_ENST00000520041.1_RNA	p.C1517C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4970	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1517			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.4551C>T	CCDS4369.1																																																																																				0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		11	22	0	0	0	1	0	11	22				
UNC13A	23025	broad.mit.edu	37	19	17752258	17752258	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:17752258C>A	ENST00000519716.2	-	21	2579	c.2580G>T	c.(2578-2580)gaG>gaT	p.E860D	UNC13A_ENST00000552293.1_Missense_Mutation_p.E860D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E860D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E858D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E860D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E948D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	860					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTCCACAATCTCCTGGGCTG	0.567																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2842-2844)gaG>gaT		unc-13 homolog A (C. elegans)							122.0	122.0	122.0					19																	17752258		2182	4286	6468	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17752258C>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2580G>T	19.37:g.17752258C>A	ENSP00000429562:p.Glu860Asp					UNC13A_ENST00000550896.1_Missense_Mutation_p.E858D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E860D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E860D|UNC13A_ENST00000519716.2_Missense_Mutation_p.E860D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E860D	p.E948D			Q9UPW8	UN13A_HUMAN			22	2843	-			860					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2844G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	13.53	2.264205	0.39995	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;D;D	0.82711	-1.62;-1.64;-1.62;-1.49;-1.5;-1.63	3.0	0.835	0.18886	.	0.174346	0.39544	U	0.001331	T	0.76976	0.4063	L	0.50333	1.59	0.33245	D	0.557703	P	0.36944	0.574	B	0.42386	0.386	T	0.76697	-0.2864	10	0.52906	T	0.07	-13.8481	4.5854	0.12280	0.0:0.5775:0.0:0.4225	.	860	Q9UPW8	UN13A_HUMAN	D	860;948;860;860;860;858	ENSP00000429562:E860D;ENSP00000400409:E948D;ENSP00000252773:E860D;ENSP00000447236:E860D;ENSP00000447572:E860D;ENSP00000446831:E858D	ENSP00000252773:E860D	E	-	3	2	UNC13A	17613258	0.994000	0.37717	1.000000	0.80357	0.958000	0.62258	0.419000	0.21247	0.609000	0.30018	0.299000	0.19835	GAG		0.567	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		30	49	1	0	5.77227e-19	1	6.12568e-19	30	49				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000328354.6_Silent_p.S372S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	80	0	0	0	1	0	5	80				
UHRF1BP1L	23074	broad.mit.edu	37	12	100478361	100478361	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:100478361T>C	ENST00000279907.7	-	10	1393	c.1181A>G	c.(1180-1182)cAt>cGt	p.H394R	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.H394R|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H44R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	394										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCAAATTCATGCAATAACTC	0.393																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1180-1182)cAt>cGt		UHRF1 binding protein 1-like							215.0	172.0	187.0					12																	100478361		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100478361T>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1181A>G	12.37:g.100478361T>C	ENSP00000279907:p.His394Arg					UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.H394R|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H44R	p.H394R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			10	1393	-			394					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1181A>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101515	0.37048	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000551973;ENST00000551980	T;T;T;T;T	0.41400	3.01;3.01;1.61;1.61;1.0	5.48	5.48	0.80851	.	0.162935	0.53938	D	0.000045	T	0.34774	0.0909	L	0.36672	1.1	0.45718	D	0.998622	B;B	0.25955	0.082;0.138	B;B	0.25987	0.036;0.065	T	0.10706	-1.0618	10	0.19590	T	0.45	-17.9633	15.8683	0.79084	0.0:0.0:0.0:1.0	.	394;394	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	R	394;44;394;44;44	ENSP00000279907:H394R;ENSP00000444824:H44R;ENSP00000349285:H394R;ENSP00000448226:H44R;ENSP00000449189:H44R	ENSP00000279907:H394R	H	-	2	0	UHRF1BP1L	99002492	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.192000	0.65115	2.214000	0.71695	0.528000	0.53228	CAT		0.393	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		29	56	0	0	0	1	0	29	56				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		5	176	0	0	0	1	0	5	176				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	46	0	0	0	1	0	36	46				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	57	0	0	0	1	0	3	57				
DNM1P47	100216544	broad.mit.edu	37	15	102304896	102304896	+	RNA	SNP	C	C	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr15:102304896C>G	ENST00000561463.1	+	0	12942									DNM1 pseudogene 47																		GAAGACACTCCTGGAGGAGTC	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304896C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304896C>G														0	12942	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	27	0	0	0	1	0	4	27				
SLC36A1	206358	broad.mit.edu	37	5	150867793	150867793	+	Missense_Mutation	SNP	A	A	G	rs140057648		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:150867793A>G	ENST00000243389.3	+	11	1632	c.1409A>G	c.(1408-1410)aAt>aGt	p.N470S	SLC36A1_ENST00000520701.1_Missense_Mutation_p.N470S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	470					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	ATCTTCATCAATTCCACCTGT	0.567													A|||	1	0.000199681	0.0	0.0	5008	,	,		21145	0.0		0.001	False		,,,				2504	0.0				Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1408-1410)aAt>aGt		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)	A	SER/ASN	3,4403	6.2+/-15.9	0,3,2200	94.0	84.0	87.0		1409	4.2	0.6	5	dbSNP_134	87	7,8593	5.7+/-21.5	0,7,4293	yes	missense	SLC36A1	NM_078483.2	46	0,10,6493	GG,GA,AA		0.0814,0.0681,0.0769	benign	470/477	150867793	10,12996	2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150867793A>G	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1409A>G	5.37:g.150867793A>G	ENSP00000243389:p.Asn470Ser					SLC36A1_ENST00000520701.1_Missense_Mutation_p.N470S	p.N470S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1632	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	470					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.1409A>G	CCDS4316.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	15.13	2.740841	0.49151	6.81E-4	8.14E-4	ENSG00000123643	ENST00000520701;ENST00000243389	T;T	0.04317	3.65;3.65	5.37	4.22	0.49857	.	0.450698	0.25616	N	0.029443	T	0.09335	0.0230	M	0.86178	2.8	0.80722	D	1	P	0.35174	0.488	B	0.32022	0.139	T	0.01587	-1.1318	10	0.72032	D	0.01	.	9.5244	0.39156	0.9205:0.0:0.0795:0.0	.	470	Q7Z2H8	S36A1_HUMAN	S	470	ENSP00000428140:N470S;ENSP00000243389:N470S	ENSP00000243389:N470S	N	+	2	0	SLC36A1	150847986	0.994000	0.37717	0.584000	0.28653	0.864000	0.49448	3.821000	0.55700	0.896000	0.36366	0.374000	0.22700	AAT		0.567	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		26	43	0	0	0	1	0	26	43				
HLA-DRB5	3127	broad.mit.edu	37	6	32486344	32486344	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:32486344T>C	ENST00000374975.3	-	4	814	c.752A>G	c.(751-753)aAg>aGg	p.K251R		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TTTCTGATTCTTGAAGTAGAT	0.517													T|||	3011	0.601238	0.5983	0.7075	5008	,	,		3582	0.5655		0.6899	False		,,,				2504	0.4755					ENST00000374975.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						c.(751-753)aAg>aGg		major histocompatibility complex, class II, DR beta 5							22.0	22.0	22.0					6																	32486344		832	1811	2643	SO:0001583	missense	3127				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32486344T>C		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.752A>G	6.37:g.32486344T>C	ENSP00000364114:p.Lys251Arg						p.K251R	NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN			4	814	-			251						Missense_Mutation	SNP	ENST00000374975.3	37	c.752A>G	CCDS4751.1	883	0.4043040293040293	110	0.22357723577235772	172	0.47513812154696133	268	0.46853146853146854	333	0.4393139841688654	.	0.056	-1.235605	0.01505	.	.	ENSG00000198502	ENST00000374975	T	0.00638	6.04	4.29	1.52	0.23074	.	0.271799	0.38778	N	0.001577	T	0.00073	0.0002	N	0.00313	-1.665	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09862	-1.0655	9	0.02654	T	1	.	8.1077	0.30896	0.0:0.7117:0.0:0.2883	.	178;251	Q29973;Q30154	.;DRB5_HUMAN	R	251	ENSP00000364114:K251R	ENSP00000364114:K251R	K	-	2	0	HLA-DRB5	32594322	0.000000	0.05858	0.105000	0.21289	0.853000	0.48598	-0.130000	0.10498	0.566000	0.29273	-0.251000	0.11542	AAG		0.517	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		3	35	0	0	0	1	0	3	35				
NEFL	4747	broad.mit.edu	37	8	24813443	24813443	+	RNA	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:24813443C>T	ENST00000221169.5	-	0	1181				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCGCCTTTGCGCGCTTCCAT	0.647																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							16.0	17.0	17.0					8																	24813443		1914	4100	6014			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813443C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813443C>T										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1181	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.647	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		3	36	0	0	0	1	0	3	36				
KDM4E	390245	broad.mit.edu	37	11	94759050	94759050	+	Missense_Mutation	SNP	C	C	T	rs182574403		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:94759050C>T	ENST00000450979.2	+	1	629	c.329C>T	c.(328-330)cCg>cTg	p.P110L		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	110					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TATCAGACTCCGCCACACCAG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20531	0.0		0.001	False		,,,				2504	0.0					ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(328-330)cCg>cTg		lysine (K)-specific demethylase 4E							10.0	9.0	9.0					11																	94759050		690	1589	2279	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759050C>T	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.329C>T	11.37:g.94759050C>T	ENSP00000397239:p.Pro110Leu						p.P110L	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	629	+			110						Missense_Mutation	SNP	ENST00000450979.2	37	c.329C>T	CCDS44713.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	13.15	2.151332	0.38021	.	.	ENSG00000235268	ENST00000450979	T	0.55234	0.53	2.72	2.72	0.32119	.	.	.	.	.	T	0.75332	0.3835	M	0.91459	3.21	0.45634	D	0.998565	D	0.89917	1.0	D	0.91635	0.999	T	0.80473	-0.1367	9	0.87932	D	0	-14.8323	11.1903	0.48681	0.0:1.0:0.0:0.0	.	110	B2RXH2	KD4DL_HUMAN	L	110	ENSP00000397239:P110L	ENSP00000397239:P110L	P	+	2	0	KDM4DL	94398698	0.980000	0.34600	0.036000	0.18154	0.038000	0.13279	3.407000	0.52644	1.543000	0.49345	0.455000	0.32223	CCG		0.468	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		11	7	0	0	0	1	0	11	7				
CTCFL	140690	broad.mit.edu	37	20	56078504	56078504	+	Missense_Mutation	SNP	C	C	T	rs142170954	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:56078504C>T	ENST00000608263.1	-	9	2489	c.1828G>A	c.(1828-1830)Gcg>Acg	p.A610T	CTCFL_ENST00000608440.1_Missense_Mutation_p.A610T|CTCFL_ENST00000429804.3_Missense_Mutation_p.A560T|CTCFL_ENST00000243914.3_Missense_Mutation_p.A610T|CTCFL_ENST00000423479.3_Missense_Mutation_p.A610T|CTCFL_ENST00000433949.3_Missense_Mutation_p.A405T|CTCFL_ENST00000609232.1_Missense_Mutation_p.A610T|CTCFL_ENST00000502686.2_Missense_Mutation_p.A348T|CTCFL_ENST00000371196.2_Missense_Mutation_p.A610T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	610					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTCCGTTCGCGGCTTCCTTC	0.502													C|||	14	0.00279553	0.0076	0.0	5008	,	,		19122	0.0		0.003	False		,,,				2504	0.001					ENST00000429804.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1678-1680)Gcg>Acg		CCCTC-binding factor (zinc finger protein)-like		C	THR/ALA	33,4373	39.2+/-71.8	1,31,2171	203.0	178.0	186.0		1828	0.2	0.1	20	dbSNP_134	186	12,8588	9.1+/-34.3	0,12,4288	yes	missense	CTCFL	NM_080618.2	58	1,43,6459	TT,TC,CC		0.1395,0.749,0.346	benign	610/664	56078504	45,12961	2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56078504C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1828G>A	20.37:g.56078504C>T	ENSP00000476783:p.Ala610Thr					CTCFL_ENST00000502686.2_Missense_Mutation_p.A348T|CTCFL_ENST00000371196.2_Missense_Mutation_p.A610T|CTCFL_ENST00000433949.2_Missense_Mutation_p.A610T|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.A610T|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.A610T	p.A560T	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		9	2238	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		610					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1678G>A	CCDS13459.1	6	0.0027472527472527475	3	0.006097560975609756	0	0.0	0	0.0	3	0.00395778364116095	C	4.349	0.064138	0.08388	0.00749	0.001395	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686	T;T;T;T;T;T	0.10668	2.87;2.85;2.85;3.08;4.98;4.98	0.158	0.158	0.14942	.	1.652230	0.04097	N	0.312266	T	0.02494	0.0076	N	0.08118	0	0.09310	N	0.999997	B;B;B;P;B	0.37500	0.113;0.0;0.41;0.597;0.002	B;B;B;B;B	0.15052	0.004;0.0;0.006;0.012;0.0	T	0.31888	-0.9927	9	0.12766	T	0.61	.	.	.	.	.	610;560;610;610;610	A6XGM2;E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	T	610;610;610;560;610;348	ENSP00000415579:A610T;ENSP00000243914:A610T;ENSP00000360239:A610T;ENSP00000415329:A560T;ENSP00000392034:A610T;ENSP00000437999:A348T	ENSP00000243914:A610T	A	-	1	0	CTCFL	55511910	0.004000	0.15560	0.065000	0.19835	0.185000	0.23345	0.571000	0.23669	0.202000	0.20498	0.205000	0.17691	GCG		0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		4	151	0	0	0	1	0	4	151				
MST1L	11223	broad.mit.edu	37	1	17083779	17083779	+	RNA	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:17083779G>A	ENST00000455405.2	-	0	809							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										AGAGACACGCGTGAAGACGGC	0.542																																						ENST00000455405.2																			0																																																			0							g.chr1:17083779G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083779G>A														0	809	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	4.280	0.051029	0.08243	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.515885	0.16234	N	0.223477	T	0.18173	0.0436	.	.	.	.	.	.	P;P	0.37466	0.466;0.596	B;B	0.27262	0.043;0.078	T	0.11567	-1.0582	6	0.42905	T	0.14	.	4.3807	0.11293	0.3347:0.0:0.6653:0.0	.	673;699	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	M	673;699	.	ENSP00000439273:T673M	T	-	2	0	MST1P9	16956366	1.000000	0.71417	0.890000	0.34922	0.000000	0.00434	2.279000	0.43435	-0.406000	0.07588	0.000000	0.15137	ACG		0.542	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	32	0	0	0	1	0	4	32				
LRRC8B	23507	broad.mit.edu	37	1	90049110	90049110	+	Missense_Mutation	SNP	C	C	T	rs375681290		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:90049110C>T	ENST00000330947.2	+	5	1261	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	LRRC8B_ENST00000439853.1_Missense_Mutation_p.R301C|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R301C|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	301					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGGATATAAGCGCTACCAGTG	0.383																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(901-903)Cgc>Tgc		leucine rich repeat containing 8 family, member B		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	156.0	158.0	157.0		901,901	5.3	1.0	1		157	0,8600		0,0,4300	no	missense,missense	LRRC8B	NM_001134476.1,NM_015350.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	301/804,301/804	90049110	1,13005	2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90049110C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.901C>T	1.37:g.90049110C>T	ENSP00000332674:p.Arg301Cys					LRRC8B_ENST00000439853.1_Missense_Mutation_p.R301C|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R301C	p.R301C	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	1261	+		all_lung(203;0.17)	301					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.901C>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771462	0.49680	2.27E-4	0.0	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.44482	0.92;0.92;0.92	5.3	5.3	0.74995	.	0.070909	0.53938	D	0.000044	T	0.21267	0.0512	L	0.44542	1.39	0.51012	D	0.999905	D	0.56968	0.978	B	0.38106	0.265	T	0.06499	-1.0823	10	0.49607	T	0.09	.	12.4845	0.55863	0.2788:0.7212:0.0:0.0	.	301	Q6P9F7	LRC8B_HUMAN	C	301	ENSP00000332674:R301C;ENSP00000350933:R301C;ENSP00000400704:R301C	ENSP00000332674:R301C	R	+	1	0	LRRC8B	89821698	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.413000	0.59795	2.629000	0.89072	0.655000	0.94253	CGC		0.383	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		49	30	0	0	0	1	0	49	30				
ERG	2078	broad.mit.edu	37	21	39774503	39774503	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:39774503G>A	ENST00000417133.2	-	7	855	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	ERG_ENST00000442448.1_Missense_Mutation_p.R224W|ERG_ENST00000288319.7_Missense_Mutation_p.R217W|ERG_ENST00000398911.1_Missense_Mutation_p.R224W|ERG_ENST00000453032.2_Missense_Mutation_p.R125W|ERG_ENST00000398897.1_Missense_Mutation_p.R125W|ERG_ENST00000429727.2_Intron|ERG_ENST00000398919.2_Missense_Mutation_p.R224W|ERG_ENST00000398907.1_Missense_Mutation_p.R217W|ERG_ENST00000398910.1_Missense_Mutation_p.R224W|ERG_ENST00000398905.1_Missense_Mutation_p.R217W	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGCATTAACCGTGGAGAGTTT	0.438			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(670-672)Cgg>Tgg		v-ets avian erythroblastosis virus E26 oncogene homolog							116.0	102.0	106.0					21																	39774503		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39774503G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.670C>T	21.37:g.39774503G>A	ENSP00000414150:p.Arg224Trp					ERG_ENST00000398910.1_Missense_Mutation_p.R224W|ERG_ENST00000288319.7_Missense_Mutation_p.R217W|ERG_ENST00000398911.1_Missense_Mutation_p.R224W|ERG_ENST00000398919.2_Missense_Mutation_p.R224W|ERG_ENST00000398907.1_Missense_Mutation_p.R217W|ERG_ENST00000417133.2_Missense_Mutation_p.R224W|ERG_ENST00000398897.1_Missense_Mutation_p.R125W|ERG_ENST00000453032.2_Missense_Mutation_p.R125W|ERG_ENST00000398905.1_Missense_Mutation_p.R217W|ERG_ENST00000429727.2_Intron	p.R224W	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			7	941	-		Prostate(19;3.6e-06)	224					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.670C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048930	0.93740	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.16196	2.4;2.36;2.42;2.42;2.4;2.42;2.37;2.4;2.43;2.42	5.63	5.63	0.86233	.	0.123853	0.52532	D	0.000068	T	0.34250	0.0891	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;1.0	P;P;D;P;D	0.70016	0.864;0.723;0.967;0.901;0.949	T	0.01127	-1.1443	10	0.51188	T	0.08	.	17.8901	0.88869	0.0:0.0:1.0:0.0	.	224;217;224;224;217	P11308;B5MDW0;P11308-6;P11308-1;P11308-4	ERG_HUMAN;.;.;.;.	W	217;217;217;125;224;224;224;224;125;224	ENSP00000381877:R217W;ENSP00000381879:R217W;ENSP00000288319:R217W;ENSP00000381871:R125W;ENSP00000381882:R224W;ENSP00000414150:R224W;ENSP00000381881:R224W;ENSP00000394694:R224W;ENSP00000396268:R125W;ENSP00000381891:R224W	ENSP00000288319:R217W	R	-	1	2	ERG	38696373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.808000	0.86044	2.652000	0.90054	0.655000	0.94253	CGG		0.438	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		12	36	0	0	0	1	0	12	36				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	80	0	0	0	1	0	5	80				
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	lincRNA	SNP	A	A	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:1593261A>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTCAGGGCACATGCCTGACCA	0.542																																						ENST00000436493.2																			0																																																			0							g.chr5:1593261A>T																													5.37:g.1593261A>T														0	364	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.542	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			7	47	0	0	0	1	0	7	47				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	57	0	0	0	1	0	4	57				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	25	0	0	0	1	0	3	25				
RCE1	9986	broad.mit.edu	37	11	66610961	66610961	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:66610961T>C	ENST00000309657.3	+	1	79	c.35T>C	c.(34-36)cTg>cCg	p.L12P	RCE1_ENST00000524506.1_Missense_Mutation_p.L12P|RCE1_ENST00000525356.1_5'Flank|C11orf80_ENST00000360962.4_3'UTR	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	12					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGCGACTGCTGTCGGTGTCG	0.756																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(34-36)cTg>cCg		Ras converting CAAX endopeptidase 1							2.0	2.0	2.0					11																	66610961		1058	2236	3294	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66610961T>C	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.35T>C	11.37:g.66610961T>C	ENSP00000309163:p.Leu12Pro					RCE1_ENST00000524506.1_Missense_Mutation_p.L12P|C11orf80_ENST00000360962.4_3'UTR	p.L12P	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			1	79	+			12					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.35T>C	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122914	0.77436	.	.	ENSG00000173653	ENST00000309657;ENST00000524506	.	.	.	4.51	4.51	0.55191	.	0.322752	0.22156	N	0.063843	T	0.42562	0.1208	L	0.34521	1.04	0.80722	D	1	P	0.38565	0.637	B	0.38655	0.278	T	0.47275	-0.9130	9	0.87932	D	0	-6.446	10.5139	0.44879	0.0:0.0:0.0:1.0	.	12	Q9Y256	FACE2_HUMAN	P	12	.	ENSP00000309163:L12P	L	+	2	0	RCE1	66367537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.829000	0.39121	1.798000	0.52647	0.459000	0.35465	CTG		0.756	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		3	1	0	0	0	1	0	3	1				
MAVS	57506	broad.mit.edu	37	20	3841977	3841977	+	Splice_Site	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:3841977A>G	ENST00000428216.2	+	4	420		c.e4-1		MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TTTGTCCTCTAGGGACCTCGG	0.602																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.e4-1		mitochondrial antiviral signaling protein							68.0	63.0	65.0					20																	3841977		2203	4300	6503	SO:0001630	splice_region_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3841977A>G	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.293-1A>G	20.37:g.3841977A>G						MAVS_ENST00000416600.2_Splice_Site|MAVS_ENST00000358134.6_Intron		NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			4	420	+								A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Splice_Site	SNP	ENST00000428216.2	37		CCDS33437.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376565	0.24857	.	.	ENSG00000088888	ENST00000428216	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9873	0.36001	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAVS	3789977	0.652000	0.27349	0.197000	0.23402	0.042000	0.13812	2.207000	0.42788	1.895000	0.54865	0.482000	0.46254	.		0.602	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	Intron	48	86	0	0	0	1	0	48	86				
ADAMTS1	9510	broad.mit.edu	37	21	28210518	28210518	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:28210518T>A	ENST00000284984.3	-	9	2738	c.2284A>T	c.(2284-2286)Agg>Tgg	p.R762W		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	762	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCATTGTTCCTGGATCCCCTC	0.448																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2284-2286)Agg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 1							92.0	72.0	79.0					21																	28210518		2202	4299	6501	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210518T>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2284A>T	21.37:g.28210518T>A	ENSP00000284984:p.Arg762Trp						p.R762W	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	2738	-		Breast(209;0.000962)	762			Spacer.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.2284A>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121433	0.77436	.	.	ENSG00000154734	ENST00000284984	T	0.63913	-0.07	5.65	5.65	0.86999	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.79417	0.4442	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	T	0.81711	-0.0808	9	0.66056	D	0.02	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	762	Q9UHI8	ATS1_HUMAN	W	762	ENSP00000284984:R762W	ENSP00000284984:R762W	R	-	1	2	ADAMTS1	27132389	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	1.511000	0.35801	2.371000	0.80710	0.533000	0.62120	AGG		0.448	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			22	27	0	0	0	1	0	22	27				
IRAK4	51135	broad.mit.edu	37	12	44180218	44180218	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:44180218A>C	ENST00000448290.2	+	11	1276	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A	IRAK4_ENST00000431837.1_Missense_Mutation_p.E278A|IRAK4_ENST00000440781.2_Missense_Mutation_p.E278A|IRAK4_ENST00000551736.1_Missense_Mutation_p.E402A	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATTAAAGAAGAAATTGAAGAT	0.249																																						ENST00000431837.1																			0											c.(832-834)gAa>gCa		interleukin-1 receptor-associated kinase 4							34.0	40.0	38.0					12																	44180218		2202	4284	6486	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180218A>C	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1205A>C	12.37:g.44180218A>C	ENSP00000390651:p.Glu402Ala					IRAK4_ENST00000440781.2_Missense_Mutation_p.E278A|IRAK4_ENST00000448290.2_Missense_Mutation_p.E402A|IRAK4_ENST00000551736.1_Missense_Mutation_p.E402A	p.E278A	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	10	1141	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	402			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.833A>C	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501897	0.85176	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110787	0.64402	D	0.000009	T	0.61862	0.2381	L	0.28344	0.845	0.80722	D	1	P	0.38048	0.616	P	0.47102	0.537	T	0.65487	-0.6156	10	0.72032	D	0.01	-29.0903	16.5494	0.84464	1.0:0.0:0.0:0.0	.	402	Q9NWZ3	IRAK4_HUMAN	A	278;278;402;402	ENSP00000408734:E278A;ENSP00000390327:E278A;ENSP00000390651:E402A;ENSP00000446490:E402A	ENSP00000390327:E278A	E	+	2	0	IRAK4	42466485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.092000	0.89530	2.299000	0.77371	0.528000	0.53228	GAA		0.249	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			3	47	0	0	0	1	0	3	47				
PCLO	27445	broad.mit.edu	37	7	82784381	82784381	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:82784381A>G	ENST00000333891.9	-	2	1913	c.1576T>C	c.(1576-1578)Tca>Cca	p.S526P	PCLO_ENST00000423517.2_Missense_Mutation_p.S526P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						GGTTTTGTTGAGCCAGGCTGT	0.567																																						ENST00000423517.2																			0				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						c.(1576-1578)Tca>Cca		piccolo presynaptic cytomatrix protein							182.0	189.0	187.0					7																	82784381		1989	4171	6160	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784381A>G	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.1576T>C	7.37:g.82784381A>G	ENSP00000334319:p.Ser526Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S526P	p.S526P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1913	-			472			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1576T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	a	0.024	-1.385001	0.01194	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17691	2.26;2.26	4.3	-3.64	0.04515	.	.	.	.	.	T	0.08179	0.0204	N	0.14661	0.345	0.22142	N	0.999337	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35748	-0.9776	9	0.87932	D	0	.	4.4676	0.11696	0.1434:0.2886:0.4589:0.1091	.	526;526	Q9Y6V0-5;Q9Y6V0-6	.;.	P	472;526;526	ENSP00000334319:S526P;ENSP00000388393:S526P	ENSP00000334319:S526P	S	-	1	0	PCLO	82622317	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.247000	0.18179	-0.369000	0.08028	-0.608000	0.04076	TCA		0.567	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	503	0	0	0	1	0	8	503				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	56	0	0	0	1	0	4	56				
CCDC88B	283234	broad.mit.edu	37	11	64111866	64111866	+	Missense_Mutation	SNP	A	A	C	rs142814776		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:64111866A>C	ENST00000356786.5	+	14	1897	c.1853A>C	c.(1852-1854)cAg>cCg	p.Q618P	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	618						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGCCCCGCAGTTGCTGGGA	0.647																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1852-1854)cAg>cCg		coiled-coil domain containing 88B		A	PRO/GLN	0,4402		0,0,2201	30.0	33.0	32.0		1853	1.0	0.0	11	dbSNP_134	32	1,8593	1.2+/-3.3	0,1,4296	no	missense	CCDC88B	NM_032251.5	76	0,1,6497	CC,CA,AA		0.0116,0.0,0.0077	benign	618/1477	64111866	1,12995	2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111866A>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1853A>C	11.37:g.64111866A>C	ENSP00000349238:p.Gln618Pro					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.Q618P	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1897	+			618					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1853A>C	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	a	11.19	1.565817	0.27915	0.0	1.16E-4	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23950	1.88	3.72	1.0	0.19881	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.26975	0.165;0.005;0.165	B;B;B	0.26416	0.069;0.006;0.069	T	0.24440	-1.0160	9	0.52906	T	0.07	.	3.4117	0.07361	0.5471:0.1358:0.0:0.3171	.	618;267;618	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	P	618	ENSP00000349238:Q618P	ENSP00000349238:Q618P	Q	+	2	0	CCDC88B	63868442	0.000000	0.05858	0.001000	0.08648	0.195000	0.23768	0.074000	0.14662	0.546000	0.28920	0.249000	0.18162	CAG		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		16	42	0	0	0	1	0	16	42				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		5	171	0	0	0	1	0	5	171				
RASSF9	9182	broad.mit.edu	37	12	86199470	86199470	+	Silent	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:86199470C>T	ENST00000361228.3	-	2	686	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	106	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTGGGCTGCTCATCTCCCC	0.448																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(316-318)gaG>gaA		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							120.0	120.0	120.0					12																	86199470		1914	4138	6052	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199470C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.318G>A	12.37:g.86199470C>T							p.E106E	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	686	-			106			Ras-associating.		B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.318G>A	CCDS44950.1																																																																																				0.448	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			13	123	0	0	0	1	0	13	123				
SOX10	6663	broad.mit.edu	37	22	38379483	38379483	+	Silent	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:38379483G>A	ENST00000396884.2	-	2	591	c.309C>T	c.(307-309)caC>caT	p.H103H	SOX10_ENST00000470555.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Silent_p.H103H	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	103					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCCGCTTGACGTGCGGCTTGC	0.662																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	ENST00000396884.2																			0				NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20						c.(307-309)caC>caT		SRY (sex determining region Y)-box 10							52.0	39.0	44.0					22																	38379483		2203	4299	6502	SO:0001819	synonymous_variant	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38379483G>A		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.309C>T	22.37:g.38379483G>A						POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.H103H|SOX10_ENST00000470555.1_Intron	p.H103H	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN			2	591	-	Melanoma(58;0.045)		103					B4DV62|Q6FHW7	Silent	SNP	ENST00000396884.2	37	c.309C>T	CCDS13964.1																																																																																				0.662	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		3	29	0	0	0	1	0	3	29				
SZT2	23334	broad.mit.edu	37	1	43912030	43912033	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:43912030_43912033delCAAA	ENST00000562955.1	+	64	8844_8847	c.8844_8847delCAAA	c.(8842-8847)gtcaaafs	p.VK2948fs	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Frame_Shift_Del_p.VK2106fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3005					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCTGTGTCAAACAGTTTGCCC	0.559																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8842-8847)gtfs		seizure threshold 2 homolog (mouse)																																				SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43912030_43912033delCAAA	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8844_8847delCAAA	1.37:g.43912030_43912033delCAAA	ENSP00000457168:p.Val2948fs					SZT2_ENST00000372442.1_Frame_Shift_Del_p.VK2106fs	p.VK2948fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			64	8844_8847	+			3005					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	c.8844_8847delCAAA	CCDS30694.2																																																																																				0.559	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		36	24						36	24	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151265460	151265461	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:151265460_151265461delTT	ENST00000368873.1	-	12	2486_2487	c.2318_2319delAA	c.(2317-2319)aaafs	p.K773fs	PI4KB_ENST00000368874.4_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000271657.5_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000368875.2_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000529142.1_Frame_Shift_Del_p.K441fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	773					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAACCTCTCTTTGAGGTTTCG	0.564																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2353-2355)afs		phosphatidylinositol 4-kinase, catalytic, beta																																				SO:0001589	frameshift_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265460_151265461delTT	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2318_2319delAA	1.37:g.151265460_151265461delTT	ENSP00000357867:p.Lys773fs					PI4KB_ENST00000271657.5_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000368873.1_Frame_Shift_Del_p.K773fs|PI4KB_ENST00000368874.4_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000529142.1_Frame_Shift_Del_p.K441fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.K758fs	p.K785fs	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		13	2934_2935	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		773					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Del	DEL	ENST00000368873.1	37	c.2354_2355delAA																																																																																					0.564	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		46	55						46	55	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201752572	201752577	+	In_Frame_Del	DEL	CCAATC	CCAATC	-	rs150728227		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:201752572_201752577delCCAATC	ENST00000367296.4	+	7	2816_2821	c.2396_2401delCCAATC	c.(2395-2403)gccaatctt>gtt	p.799_801ANL>V	NAV1_ENST00000367295.1_In_Frame_Del_p.408_410ANL>V|NAV1_ENST00000367300.3_In_Frame_Del_p.799_801ANL>V|NAV1_ENST00000367302.1_In_Frame_Del_p.812_814ANL>V|NAV1_ENST00000367297.4_In_Frame_Del_p.799_801ANL>V|NAV1_ENST00000295624.6_In_Frame_Del_p.799_801ANL>V|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	799					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTCACTAGCCAATCTTGACAAGGT	0.456																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(2395-2403)gtt>g		neuron navigator 1																																				SO:0001651	inframe_deletion	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201752572_201752577delCCAATC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2396_2401delCCAATC	1.37:g.201752572_201752577delCCAATC	ENSP00000356265:p.Ala799_Leu801delinsVal					NAV1_ENST00000367302.1_In_Frame_Del_p.ANL812del|NAV1_ENST00000367295.1_In_Frame_Del_p.ANL408del|NAV1_ENST00000367300.3_In_Frame_Del_p.ANL799del|NAV1_ENST00000367297.4_In_Frame_Del_p.ANL799del|NAV1_ENST00000295624.6_In_Frame_Del_p.ANL799del|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA	p.ANL799del	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			7	2816_2821	+			799					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	In_Frame_Del	DEL	ENST00000367296.4	37	c.2396_2401delCCAATC	CCDS1414.2																																																																																				0.456	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		9	508						9	508	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978839	247978840	+	Frame_Shift_Del	DEL	AT	AT	-	rs561271503		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:247978839_247978840delAT	ENST00000357627.1	-	1	191_192	c.192_193delAT	c.(190-195)ctatctfs	p.S65fs		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCCAAGAAAGATAGATTCTTCA	0.421																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(190-195)ctctfs		olfactory receptor, family 14, subfamily A, member 16																																				SO:0001589	frameshift_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978839_247978840delAT	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.192_193delAT	1.37:g.247978839_247978840delAT	ENSP00000350248:p.Ser65fs						p.LS64fs	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	191_192	-			64					Q6IF96	Frame_Shift_Del	DEL	ENST00000357627.1	37	c.192_193delAT	CCDS31097.1																																																																																				0.421	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		29	45						29	45	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28550157	28550158	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:28550157_28550158delAG	ENST00000344773.2	+	12	1243_1244	c.1105_1106delAG	c.(1105-1107)agafs	p.R369fs	BRE_ENST00000342045.2_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron	NM_004899.4	NP_004890.2			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.R369K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAAGGGAGCAGAGATGCCTGC	0.609																																						ENST00000344773.2																			1	Substitution - Missense(1)	p.R369K(1)	lung(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1105-1107)afs		brain and reproductive organ-expressed (TNFRSF1A modulator)																																				SO:0001589	frameshift_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28550157_28550158delAG	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000344773.2:c.1105_1106delAG	2.37:g.28550159_28550160delAG	ENSP00000343412:p.Arg369fs					BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000342045.2_Intron	p.R369fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			12	1243_1244	+	Acute lymphoblastic leukemia(172;0.155)		0						Frame_Shift_Del	DEL	ENST00000344773.2	37	c.1105_1106delAG	CCDS1764.1																																																																																				0.609	BRE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215111.1			57	135						57	135	---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135920344	135920346	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:135920344_135920346delAAG	ENST00000264158.8	+	21	2456_2458	c.2413_2415delAAG	c.(2413-2415)aagdel	p.K806del	RAB3GAP1_ENST00000539493.1_In_Frame_Del_p.K762del|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_In_Frame_Del_p.K806del	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	806					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCTTCAGTTAAGAAGATCATAA	0.315																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2413-2415)del		RAB3 GTPase activating protein subunit 1 (catalytic)																																				SO:0001651	inframe_deletion	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135920344_135920346delAAG	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2413_2415delAAG	2.37:g.135920347_135920349delAAG	ENSP00000264158:p.Lys806del					RAB3GAP1_ENST00000539493.1_In_Frame_Del_p.K762del|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_In_Frame_Del_p.K806del	p.K806del	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	21	2456_2458	+			806					A6H8Z3|C9J837|Q659F5|Q8TBB4	In_Frame_Del	DEL	ENST00000264158.8	37	c.2413_2415delAAG	CCDS33294.1																																																																																				0.315	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		29	75						29	75	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174774916	174774917	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:174774916_174774917delAT	ENST00000310015.6	-	7	2628_2629	c.2098_2099delAT	c.(2098-2100)attfs	p.I700fs	SP3_ENST00000455789.2_Frame_Shift_Del_p.I647fs|SP3_ENST00000418194.2_Frame_Shift_Del_p.I632fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	700					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGTGTTTTAATATGTTTGGCA	0.376																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(2098-2100)tfs		Sp3 transcription factor																																				SO:0001589	frameshift_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174774916_174774917delAT	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2098_2099delAT	2.37:g.174774918_174774919delAT	ENSP00000310301:p.Ile700fs					SP3_ENST00000455789.2_Frame_Shift_Del_p.I647fs|SP3_ENST00000418194.2_Frame_Shift_Del_p.I632fs	p.I700fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		7	2628_2629	-			700					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Frame_Shift_Del	DEL	ENST00000310015.6	37	c.2098_2099delAT	CCDS2254.1																																																																																				0.376	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		42	54						42	54	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058229	114058231	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:114058229_114058231delAGG	ENST00000474710.1	-	5	2025_2027	c.1847_1849delCCT	c.(1846-1851)tcctta>tta	p.S616del	ZBTB20_ENST00000464560.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.S543del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.S543del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000462705.1_In_Frame_Del_p.S543del	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	616						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAATCCTTTAAGGAGAAGGAGCG	0.507																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1627-1632)tta>t		zinc finger and BTB domain containing 20																																				SO:0001651	inframe_deletion	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058229_114058231delAGG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1847_1849delCCT	3.37:g.114058229_114058231delAGG	ENSP00000419153:p.Ser616del					ZBTB20_ENST00000464560.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.SL543del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.SL616del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.SL543del	p.SL543del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2449_2451	-			616	S -> F (in Ref. 5; AAH29041).				Q63HP6|Q8N6R5|Q9Y410	In_Frame_Del	DEL	ENST00000474710.1	37	c.1628_1630delCCT	CCDS54626.1																																																																																				0.507	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		26	51						26	51	---	---	---	---
CCDC96	257236	broad.mit.edu	37	4	7044489	7044489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:7044489delT	ENST00000310085.4	-	1	239	c.177delA	c.(175-177)ggafs	p.G60fs	TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	60	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CGGCGGTGCCTCCCTGCGAAG	0.736																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(175-177)ggfs		coiled-coil domain containing 96							3.0	4.0	3.0					4																	7044489		1944	3953	5897	SO:0001589	frameshift_variant	257236							g.chr4:7044489delT	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.177delA	4.37:g.7044489delT	ENSP00000309285:p.Gly60fs					RP11-367J11.2_ENST00000500031.1_RNA	p.G60fs	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	239	-			60			Glu-rich.		Q8N2I7	Frame_Shift_Del	DEL	ENST00000310085.4	37	c.177delA	CCDS3395.1																																																																																				0.736	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		2	4						2	4	---	---	---	---
GALNTL6	442117	broad.mit.edu	37	4	173961139	173961141	+	In_Frame_Del	DEL	AGA	AGA	-	rs369616934		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:173961139_173961141delAGA	ENST00000506823.1	+	13	2351_2353	c.1694_1696delAGA	c.(1693-1698)gagaag>gag	p.K567del	GALNTL6_ENST00000508122.1_In_Frame_Del_p.K550del	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	567	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K567delK(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCCCGCAGAGAAGAAGATTTT	0.424																																						ENST00000506823.1																			1	Deletion - In frame(1)	p.K567delK(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1693-1698)gag>g		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6																																				SO:0001651	inframe_deletion	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173961139_173961141delAGA		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1694_1696delAGA	4.37:g.173961145_173961147delAGA	ENSP00000423313:p.Lys567del					GALNTL6_ENST00000508122.1_In_Frame_Del_p.EK548del	p.EK565del	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			13	2351_2353	+			565			Ricin B-type lectin.		Q2L4S6	In_Frame_Del	DEL	ENST00000506823.1	37	c.1694_1696delAGA	CCDS34104.1																																																																																				0.424	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		25	61						25	61	---	---	---	---
FNDC9	408263	broad.mit.edu	37	5	156770389	156770391	+	In_Frame_Del	DEL	CTC	CTC	-	rs201079002		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:156770389_156770391delCTC	ENST00000312349.4	-	2	341_343	c.154_156delGAG	c.(154-156)gagdel	p.E52del	CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	52	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAGGCACCTTCTCCTCGTGGTGG	0.537																																						ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(154-156)del		fibronectin type III domain containing 9																																				SO:0001651	inframe_deletion	408263					integral to membrane		g.chr5:156770389_156770391delCTC	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.154_156delGAG	5.37:g.156770392_156770394delCTC	ENSP00000310594:p.Glu52del					CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron	p.E52del	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	341_343	-			52			Fibronectin type-III.		A8K0Y6	In_Frame_Del	DEL	ENST00000312349.4	37	c.154_156delGAG	CCDS4337.1																																																																																				0.537	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		47	90						47	90	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131277495	131277497	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:131277495_131277497delTCC	ENST00000337057.3	-	2	310_312	c.129_131delGGA	c.(127-132)gaggaa>gaa	p.43_44EE>E	EPB41L2_ENST00000445890.2_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000527659.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000528282.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000529208.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000527411.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000392427.3_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000368128.2_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000530481.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000525271.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000525193.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000530148.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	43					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGAACCTTTTTCCTCCTCTGGAT	0.483																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(127-132)gaa>ga		erythrocyte membrane protein band 4.1-like 2																																				SO:0001651	inframe_deletion	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277495_131277497delTCC	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.129_131delGGA	6.37:g.131277498_131277500delTCC	ENSP00000338481:p.Glu44del					EPB41L2_ENST00000525193.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000528282.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000445890.2_In_Frame_Del_p.EE43del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.EE43del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000392427.3_In_Frame_Del_p.EE43del|EPB41L2_ENST00000525271.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.EE43del	p.EE43del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	310_312	-	Breast(56;0.0639)		43					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	ENST00000337057.3	37	c.129_131delGGA	CCDS5141.1																																																																																				0.483	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			36	85						36	85	---	---	---	---
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-	rs200675201		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313																																						ENST00000390184.1																			0																																																			0							g.chr7:88269891delT																													7.37:g.88269891delT														0	57	+									RNA	DEL	ENST00000390184.1	37																																																																																						0.313	AC006988.1-201	NOVEL	basic	miRNA	miRNA				2	4						2	4	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104717788	104717789	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:104717788_104717789delAA	ENST00000311117.3	+	11	1583_1584	c.1038_1039delAA	c.(1036-1041)gcaaaafs	p.K347fs	KMT2E_ENST00000476671.1_Frame_Shift_Del_p.K347fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K347fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Frame_Shift_Del_p.K347fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	347	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTAAATCTGCAAAAGATTTGCC	0.292																																						ENST00000334877.4																			0											c.(1036-1041)gcaafs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104717788_104717789delAA	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1038_1039delAA	7.37:g.104717790_104717791delAA	ENSP00000312379:p.Lys347fs					KMT2E_ENST00000476671.1_Frame_Shift_Del_p.AK346fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.AK346fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.AK346fs	p.AK346fs							11	1572_1573	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	c.1038_1039delAA	CCDS34723.1																																																																																				0.292	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			41	38						41	38	---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124789562	124789563	+	Splice_Site	DEL	TG	TG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:124789562_124789563delTG	ENST00000334705.7	+	4	613	c.367delTG	c.(367-369)tgg>gg	p.W123fs	FAM91A1_ENST00000521166.1_Splice_Site_p.W123fs	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	123										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCTGCTGACTGTAAGTATTTA	0.302																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.e4+1		family with sequence similarity 91, member A1																																				SO:0001630	splice_region_variant	157769							g.chr8:124789562_124789563delTG	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.367+1TG>-	8.37:g.124789562_124789563delTG						FAM91A1_ENST00000521166.1_Splice_Site_p.123_splice	p.123_splice	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		4	613	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		123					B6YY23|Q658T5|Q8TE89	Splice_Site	DEL	ENST00000334705.7	37	c.367_splice	CCDS6346.2																																																																																				0.302	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963	Frame_Shift_Del	17	53						17	53	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35560631	35560633	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35560631_35560633delGAG	ENST00000455600.1	+	10	4563_4565	c.3994_3996delGAG	c.(3994-3996)gagdel	p.E1333del	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1333						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCTGCCTCTGAGGAGGCCCTGG	0.7																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3994-3996)del		RUN and SH3 domain containing 2																																				SO:0001651	inframe_deletion	9853					cytosol		g.chr9:35560631_35560633delGAG	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3994_3996delGAG	9.37:g.35560634_35560636delGAG	ENSP00000393922:p.Glu1333del						p.E1333del	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4563_4565	+			1333					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	In_Frame_Del	DEL	ENST00000455600.1	37	c.3994_3996delGAG	CCDS35008.1																																																																																				0.700	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		10	15						10	15	---	---	---	---
ARHGEF39	84904	broad.mit.edu	37	9	35663036	35663037	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35663036_35663037delCT	ENST00000378387.3	-	6	696_697	c.579_580delAG	c.(577-582)agagtcfs	p.RV193fs	ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.RV157fs|ARHGEF39_ENST00000490970.1_Intron|ARHGEF39_ENST00000343259.3_Intron	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	193	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										ATAGTATGGACTCTCTGGGCAG	0.53																																						ENST00000378387.3																			0											c.(577-582)agtcfs		Rho guanine nucleotide exchange factor (GEF) 39																																				SO:0001589	frameshift_variant	84904							g.chr9:35663036_35663037delCT	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.579_580delAG	9.37:g.35663040_35663041delCT	ENSP00000367638:p.Arg193fs					ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.RV157fs|ARHGEF39_ENST00000490970.1_Intron	p.RV193fs	NM_032818.2	NP_116207.2					6	696_697	-								Q49AG0|Q6TPQ2|Q96ST6	Frame_Shift_Del	DEL	ENST00000378387.3	37	c.579_580delAG	CCDS6584.2																																																																																				0.530	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		51	71						51	71	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139397632	139397635	+	Splice_Site	DEL	ACTC	ACTC	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139397632_139397635delACTC	ENST00000277541.6	-	27	5241_5243	c.5166_5168delGAGT	c.(5164-5169)cagagt>cat	p.QS1722fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1722					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACTTACTCTGCACGGCCT	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Unknown(2)	p.?(2)	upper_aerodigestive_tract(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.e27+1		notch 1																																				SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397632_139397635delACTC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5167+1GAGT>-	9.37:g.139397632_139397635delACTC		HNSCC(8;0.001)					p.H1722_splice	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5241_5243	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1722					Q59ED8|Q5SXM3	Splice_Site	DEL	ENST00000277541.6	37	c.5167_splice	CCDS43905.1																																																																																				0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Frame_Shift_Del	19	73						19	73	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413073	139413075	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139413073_139413075delAGG	ENST00000277541.6	-	6	1142_1144	c.1067_1069delCCT	c.(1066-1071)tccttc>ttc	p.S356del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	356	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGCAGTAGAAGGAGGCCACACG	0.65			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		1	Deletion - Frameshift(1)	p.S356del(1)	central_nervous_system(1)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1066-1071)ttc>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413073_139413075delAGG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1067_1069delCCT	9.37:g.139413076_139413078delAGG	ENSP00000277541:p.Ser356del	HNSCC(8;0.001)					p.SF356del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1142_1144	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	356			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1067_1069delCCT	CCDS43905.1																																																																																				0.650	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		24	25						24	25	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																						ENST00000287239.4																			0											c.(3601-3606)agfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784946_76784949delACAA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs					KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4092_4095	+			1201					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3603_3606delACAA	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		23	59						23	59	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		7	74						7	74	---	---	---	---
FAM181B	220382	broad.mit.edu	37	11	82444076	82444078	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82444076_82444078delGAA	ENST00000329203.3	-	1	828_830	c.694_696delTTC	c.(694-696)ttcdel	p.F232del		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	232	Gly-rich.									large_intestine(1)|lung(2)|prostate(1)	4						ACGGCTCCGTGAAGAAGGACGGA	0.754																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(694-696)del		family with sequence similarity 181, member B																																				SO:0001651	inframe_deletion	220382							g.chr11:82444076_82444078delGAA	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.694_696delTTC	11.37:g.82444079_82444081delGAA	ENSP00000365295:p.Phe232del						p.F232del	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	828_830	-			232			Gly-rich.		B2RWP1	In_Frame_Del	DEL	ENST00000329203.3	37	c.694_696delTTC	CCDS31648.1																																																																																				0.754	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		8	10						8	10	---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10205309	10205321	+	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	CCTCTCTTCAGTG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:10205309_10205321delCCTCTCTTCAGTG	ENST00000355819.1	+	4	636_648	c.23_35delCCTCTCTTCAGTG	c.(22-36)acctctcttcagtggfs	p.TSLQW8fs	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	8					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GAAATATACACCTCTCTTCAGTGGGATAGCCCA	0.441																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(22-36)agfs		C-type lectin domain family 9, member A																																				SO:0001589	frameshift_variant	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10205309_10205321delCCTCTCTTCAGTG		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.23_35delCCTCTCTTCAGTG	12.37:g.10205309_10205321delCCTCTCTTCAGTG	ENSP00000348074:p.Thr8fs					CLEC9A_ENST00000544751.1_3'UTR	p.TSLQW8fs	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			4	636_648	+			8					B0ZBM2	Frame_Shift_Del	DEL	ENST00000355819.1	37	c.23_35delCCTCTCTTCAGTG	CCDS8611.1																																																																																				0.441	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		11	54						11	54	---	---	---	---
ALDH1L2	160428	broad.mit.edu	37	12	105464505	105464507	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:105464505_105464507delCTT	ENST00000258494.9	-	3	409_411	c.269_271delAAG	c.(268-273)gaagtg>gtg	p.E90del	ALDH1L2_ENST00000424857.2_In_Frame_Del_p.E90del|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	90	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCTTCTGCCACTTCTTTGATGGT	0.463																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(268-273)gtg>g		aldehyde dehydrogenase 1 family, member L2																																				SO:0001651	inframe_deletion	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105464505_105464507delCTT	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.269_271delAAG	12.37:g.105464508_105464510delCTT	ENSP00000258494:p.Glu90del					ALDH1L2_ENST00000424857.2_In_Frame_Del_p.EV90del	p.EV90del	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			3	409_411	-			90			GART.		Q3SY68|Q68D62|Q6AI55|Q8N922	In_Frame_Del	DEL	ENST00000258494.9	37	c.269_271delAAG	CCDS31891.1																																																																																				0.463	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		20	86						20	86	---	---	---	---
BRMS1L	84312	broad.mit.edu	37	14	36295747	36295749	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr14:36295747_36295749delAAG	ENST00000216807.7	+	1	224_226	c.25_27delAAG	c.(25-27)aagdel	p.K10del	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	10					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		CCGAGGGGATAAGAAGGAGACCA	0.631																																						ENST00000216807.7																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(25-27)del		breast cancer metastasis-suppressor 1-like																																				SO:0001651	inframe_deletion	84312				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr14:36295747_36295749delAAG	AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"""breast cancer metastasis-suppressor 1"""	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.25_27delAAG	14.37:g.36295750_36295752delAAG	ENSP00000216807:p.Lys10del					RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	p.K10del	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)	1	224_226	+	Breast(36;0.137)|Hepatocellular(127;0.158)		10					A6NFW5|A6NH45|B2RD65|Q9BRI4	In_Frame_Del	DEL	ENST00000216807.7	37	c.25_27delAAG	CCDS32066.1																																																																																				0.631	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		11	9						11	9	---	---	---	---
PIGW	284098	broad.mit.edu	37	17	34893506	34893508	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:34893506_34893508delAGG	ENST00000592983.1	+	2	1136_1138	c.556_558delAGG	c.(556-558)aggdel	p.R188del	MYO19_ENST00000268852.9_5'Flank|PIGW_ENST00000328396.2_In_Frame_Del_p.R188del|MYO19_ENST00000590081.1_Intron|MYO19_ENST00000544606.1_5'Flank|MYO19_ENST00000431794.3_5'Flank|MYO19_ENST00000586007.1_5'Flank			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	188					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTAGAGGTCAGGAGGAGAAAAT	0.424																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(556-558)del		phosphatidylinositol glycan anchor biosynthesis, class W																																				SO:0001651	inframe_deletion	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893506_34893508delAGG	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.556_558delAGG	17.37:g.34893509_34893511delAGG	ENSP00000468778:p.Arg188del					PIGW_ENST00000328396.2_In_Frame_Del_p.R188del|MYO19_ENST00000590081.1_Intron	p.R188del			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1136_1138	+		Breast(25;0.00957)|Ovarian(249;0.17)	188					Q8N9G3	In_Frame_Del	DEL	ENST00000592983.1	37	c.556_558delAGG	CCDS11313.1																																																																																				0.424	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		50	141						50	141	---	---	---	---
SPECC1L	23384	broad.mit.edu	37	22	24718811	24718812	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:24718811_24718812delTT	ENST00000314328.9	+	5	2148_2149	c.1863_1864delTT	c.(1861-1866)actttgfs	p.L622fs	SPECC1L_ENST00000437398.1_Frame_Shift_Del_p.L622fs|SPECC1L_ENST00000541492.1_Frame_Shift_Del_p.L622fs|SPECC1L-ADORA2A_ENST00000358654.2_Frame_Shift_Del_p.L622fs|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	622					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGCAGAGACTTTGGCTAGTAG	0.416																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1861-1866)actgfs		sperm antigen with calponin homology and coiled-coil domains 1-like																																				SO:0001589	frameshift_variant	23384				cell cycle|cell division			g.chr22:24718811_24718812delTT	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1863_1864delTT	22.37:g.24718811_24718812delTT	ENSP00000325785:p.Leu622fs					KB-1896H10.1_ENST00000358654.2_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000437398.1_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000541492.1_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000416735.1_Intron	p.TL621fs	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	2148_2149	+			621					B7Z758|F5H1H6|O15081	Frame_Shift_Del	DEL	ENST00000314328.9	37	c.1863_1864delTT	CCDS33619.1																																																																																				0.416	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		50	103						50	103	---	---	---	---
PRR5	55615	broad.mit.edu	37	22	45127647	45127649	+	In_Frame_Del	DEL	CTT	CTT	-	rs202247021|rs371769405		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:45127647_45127649delCTT	ENST00000336985.6	+	5	637_639	c.360_362delCTT	c.(358-363)gacttc>gac	p.F123del	ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000517296.3_In_Frame_Del_p.F123del|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000403581.1_In_Frame_Del_p.F146del|PRR5-ARHGAP8_ENST00000352766.7_In_Frame_Del_p.F123del|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000006251.7_In_Frame_Del_p.F114del	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	123					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGACCTGGGACTTCTTCTTCAGT	0.66																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(427-432)gac>ga		proline rich 5 (renal)																																				SO:0001651	inframe_deletion	55615							g.chr22:45127647_45127649delCTT	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.360_362delCTT	22.37:g.45127653_45127655delCTT	ENSP00000337464:p.Phe123del					PRR5-ARHGAP8_ENST00000352766.7_In_Frame_Del_p.DF120del|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000336985.6_In_Frame_Del_p.DF120del|ARHGAP8_ENST00000517296.3_In_Frame_Del_p.DF120del|PRR5_ENST00000477331.1_3'UTR	p.DF143del	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	7	1038_1040	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	In_Frame_Del	DEL	ENST00000336985.6	37	c.429_431delCTT	CCDS14058.1																																																																																				0.660	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		12	102						12	102	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39934072	39934075	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chrX:39934072_39934075delTGTT	ENST00000378444.4	-	4	752_755	c.524_527delAACA	c.(523-528)aaacagfs	p.KQ175fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KQ175fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	175					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGAGGGCTCTGTTTGTCGCTGGC	0.539			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(523-528)agfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934072_39934075delTGTT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.524_527delAACA	X.37:g.39934072_39934075delTGTT	ENSP00000367705:p.Lys175fs					BCOR_ENST00000378455.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.KQ175fs	p.KQ175fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	886_889	-			175					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.524_527delAACA	CCDS48093.1																																																																																				0.539	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	80						7	80	---	---	---	---
