#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
RIMS1	22999	broad.mit.edu	37	6	72806839	72806839	+	Missense_Mutation	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:72806839G>C	ENST00000521978.1	+	3	433	c.433G>C	c.(433-435)Ggc>Cgc	p.G145R	RIMS1_ENST00000517960.1_Missense_Mutation_p.G145R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G145R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G145R|RIMS1_ENST00000264839.7_Missense_Mutation_p.G145R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G145R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G145R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G145R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	145	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCGCTGCGGAGGCCGCGTGTC	0.483																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(433-435)Ggc>Cgc		regulating synaptic membrane exocytosis 1							78.0	81.0	80.0					6																	72806839		2091	4232	6323	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72806839G>C	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.433G>C	6.37:g.72806839G>C	ENSP00000428417:p.Gly145Arg					RIMS1_ENST00000521978.1_Missense_Mutation_p.G145R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G145R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G145R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G145R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G145R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G145R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G145R	p.G145R			Q86UR5	RIMS1_HUMAN			3	433	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	145			RabBD.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.433G>C	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223292	0.95139	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000007	T	0.62319	0.2418	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67003	-0.5780	10	0.87932	D	0	-14.7865	20.0804	0.97772	0.0:0.0:1.0:0.0	.	145	Q86UR5	RIMS1_HUMAN	R	145	ENSP00000430101:G145R;ENSP00000275037:G145R;ENSP00000264839:G145R;ENSP00000429959:G145R;ENSP00000430408:G145R;ENSP00000430502:G145R;ENSP00000430932:G145R;ENSP00000428417:G145R	ENSP00000264839:G145R	G	+	1	0	RIMS1	72863560	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.773000	0.98989	2.738000	0.93877	0.655000	0.94253	GGC		0.483	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			35	217	0	0	0	1	0	35	217				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>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.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		21	551	0	0	0	1	0	21	551				
SPEN	23013	broad.mit.edu	37	1	16264319	16264319	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:16264319G>A	ENST00000375759.3	+	13	10726	c.10522G>A	c.(10522-10524)Gtg>Atg	p.V3508M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3508	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTACCCCATCGTGTGGCAGGG	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10522-10524)Gtg>Atg		spen family transcriptional repressor							107.0	108.0	108.0					1																	16264319		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16264319G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10522G>A	1.37:g.16264319G>A	ENSP00000364912:p.Val3508Met						p.V3508M	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	13	10726	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3508			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10522G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323605	0.60634	.	.	ENSG00000065526	ENST00000375759	T	0.08896	3.04	5.71	5.71	0.89125	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);	.	.	.	.	T	0.05823	0.0152	N	0.11560	0.145	0.53688	D	0.999972	P	0.44380	0.834	B	0.35655	0.207	T	0.47774	-0.9091	9	0.37606	T	0.19	-13.6961	19.8449	0.96704	0.0:0.0:1.0:0.0	.	3508	Q96T58	MINT_HUMAN	M	3508	ENSP00000364912:V3508M	ENSP00000364912:V3508M	V	+	1	0	SPEN	16136906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.544000	0.82117	2.680000	0.91292	0.655000	0.94253	GTG		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		112	514	0	0	0	1	0	112	514				
TRBV6-7	28600	broad.mit.edu	37	7	142143906	142143906	+	RNA	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:142143906G>C	ENST00000390373.2	-	0	89									T cell receptor beta variable 6-7 (non-functional)																		TCTTCAGGACGTGGAATTTTG	0.527																																						ENST00000390373.2																			0																																																			0							g.chr7:142143906G>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143906G>C														0	89	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.527	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		16	530	0	0	0	1	0	16	530				
TRNAU1AP	54952	broad.mit.edu	37	1	28907105	28907105	+	IGR	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:28907105C>T	ENST00000373830.3	+	0	1793				SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000384584.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GTCATTACCCCGGAAGTCCTC	0.463																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:28907105C>T		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28907105C>T						SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA								0	1066	-								Q86SU7	RNA	SNP	ENST00000373830.3	37		CCDS324.1																																																																																				0.463	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		15	139	0	0	0	1	0	15	139				
EFTUD1	79631	broad.mit.edu	37	15	82551447	82551447	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:82551447G>A	ENST00000268206.7	-	3	309	c.141C>T	c.(139-141)tcC>tcT	p.S47S	EFTUD1_ENST00000359445.3_Intron	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	47	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTAGGCGGCTGGAGATGATTC	0.343																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(139-141)tcC>tcT		elongation factor Tu GTP binding domain containing 1							121.0	118.0	119.0					15																	82551447		1828	4085	5913	SO:0001819	synonymous_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82551447G>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.141C>T	15.37:g.82551447G>A						EFTUD1_ENST00000359445.3_Intron	p.S47S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			3	309	-			47					A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.141C>T	CCDS42071.1																																																																																				0.343	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		10	494	0	0	0	1	0	10	494				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			9	343	0	0	0	1	0	9	343				
SLC13A4	26266	broad.mit.edu	37	7	135392895	135392895	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:135392895C>T	ENST00000354042.4	-	3	1021	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	111					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CAAGACCATGCGCAGAGCAAT	0.592																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(331-333)cGc>cAc		solute carrier family 13 (sodium/sulfate symporter), member 4							90.0	91.0	91.0					7																	135392895		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135392895C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.332G>A	7.37:g.135392895C>T	ENSP00000297282:p.Arg111His					AC091736.10_ENST00000378428.3_RNA	p.R111H	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			3	1021	-			111					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.332G>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622414	0.96660	.	.	ENSG00000164707	ENST00000354042	T	0.02974	4.09	5.07	5.07	0.68467	.	0.055341	0.64402	D	0.000001	T	0.12263	0.0298	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00182	-1.1946	10	0.87932	D	0	.	15.9821	0.80116	0.0:1.0:0.0:0.0	.	111	Q9UKG4	S13A4_HUMAN	H	111	ENSP00000297282:R111H	ENSP00000297282:R111H	R	-	2	0	SLC13A4	135043435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.688000	0.61715	2.639000	0.89480	0.561000	0.74099	CGC		0.592	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		175	736	0	0	0	1	0	175	736				
TBCK	93627	broad.mit.edu	37	4	107168383	107168383	+	Missense_Mutation	SNP	G	G	A	rs538717258		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:107168383G>A	ENST00000273980.5	-	11	1291	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	TBCK_ENST00000432496.2_Missense_Mutation_p.P282S|TBCK_ENST00000361687.4_Missense_Mutation_p.P219S|TBCK_ENST00000394708.2_Missense_Mutation_p.P282S|TBCK_ENST00000394706.3_Missense_Mutation_p.P243S					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TTGGTAAAGGGGGTATATAAA	0.378																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(844-846)Ccc>Tcc		TBC1 domain containing kinase							85.0	90.0	88.0					4																	107168383		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107168383G>A		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.844C>T	4.37:g.107168383G>A	ENSP00000273980:p.Pro282Ser					TBCK_ENST00000361687.4_Missense_Mutation_p.P219S|TBCK_ENST00000394708.2_Missense_Mutation_p.P282S|TBCK_ENST00000394706.3_Missense_Mutation_p.P243S|TBCK_ENST00000432496.2_Missense_Mutation_p.P282S	p.P282S			Q8TEA7	TBCK_HUMAN			11	1291	-			282						Missense_Mutation	SNP	ENST00000273980.5	37	c.844C>T	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223662	0.22457	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.59	3.83	0.44106	Protein kinase-like domain (1);	0.142749	0.64402	D	0.000004	T	0.08133	0.0203	L	0.54323	1.7	0.43588	D	0.995939	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.13407	0.0;0.009;0.004	T	0.13872	-1.0493	10	0.12766	T	0.61	.	8.6759	0.34179	0.0709:0.0:0.657:0.2721	.	282;243;219	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	S	282;282;219;243;282	ENSP00000273980:P282S;ENSP00000405847:P282S;ENSP00000355338:P219S;ENSP00000378196:P243S;ENSP00000378198:P282S	ENSP00000273980:P282S	P	-	1	0	TBCK	107387832	1.000000	0.71417	0.060000	0.19600	0.300000	0.27592	3.203000	0.51075	1.339000	0.45563	0.563000	0.77884	CCC		0.378	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		36	289	0	0	0	1	0	36	289				
ADAMTS12	81792	broad.mit.edu	37	5	33546294	33546294	+	Missense_Mutation	SNP	C	C	G			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:33546294C>G	ENST00000504830.1	-	22	4651	c.4316G>C	c.(4315-4317)tGt>tCt	p.C1439S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1354S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1439	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCACCTCCACAGGACCTGGA	0.468										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4315-4317)tGt>tCt		ADAM metallopeptidase with thrombospondin type 1 motif, 12							73.0	65.0	68.0					5																	33546294		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33546294C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4316G>C	5.37:g.33546294C>G	ENSP00000422554:p.Cys1439Ser	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1354S	p.C1439S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			22	4651	-			1439			TSP type-1 7.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4316G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950606	0.73787	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.79033	-1.23;-1.23	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	H	0.99847	4.84	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	D	0.96252	0.9184	10	0.87932	D	0	.	14.9937	0.71412	0.0:1.0:0.0:0.0	.	1354;1439	P58397-3;P58397	.;ATS12_HUMAN	S	1439;1354	ENSP00000422554:C1439S;ENSP00000344847:C1354S	ENSP00000344847:C1354S	C	-	2	0	ADAMTS12	33582051	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.457000	0.60088	2.605000	0.88082	0.655000	0.94253	TGT		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		33	168	0	0	0	1	0	33	168				
ATF6B	1388	broad.mit.edu	37	6	32093957	32093957	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:32093957C>T	ENST00000375203.3	-	5	447	c.415G>A	c.(415-417)Gac>Aac	p.D139N	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Missense_Mutation_p.D136N	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	139					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GATGTTGGGTCATCTCCCAGG	0.552																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(406-408)Gac>Aac		activating transcription factor 6 beta							126.0	111.0	116.0					6																	32093957		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32093957C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.415G>A	6.37:g.32093957C>T	ENSP00000364349:p.Asp139Asn					ATF6B_ENST00000375203.3_Missense_Mutation_p.D139N|ATF6B_ENST00000468502.1_5'UTR	p.D136N			Q99941	ATF6B_HUMAN			5	451	-			139					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.406G>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	7.560	0.664502	0.14710	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.55588	0.51;1.25	5.25	3.44	0.39384	.	0.566730	0.15890	U	0.239616	T	0.26955	0.0660	L	0.51422	1.61	0.25129	N	0.990582	P;B;B	0.40731	0.728;0.277;0.181	P;B;B	0.44359	0.447;0.109;0.051	T	0.11542	-1.0583	10	0.15066	T	0.55	-1.4539	6.9996	0.24803	0.0:0.7337:0.1747:0.0917	.	139;136;139	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	N	139;136	ENSP00000364349:D139N;ENSP00000364347:D136N	ENSP00000364347:D136N	D	-	1	0	ATF6B	32201935	0.976000	0.34144	0.989000	0.46669	0.994000	0.84299	1.092000	0.30927	0.774000	0.33427	0.650000	0.86243	GAC		0.552	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			34	422	0	0	0	1	0	34	422				
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1				espin pseudogene																		TGTGGGGCTCCGGACTGGTAA	0.692																																						ENST00000492551.1																			0																																																			0							g.chr1:17023143C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023143C>T								NR_026567.1						0	1720	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.692	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			21	100	0	0	0	1	0	21	100				
WDR17	116966	broad.mit.edu	37	4	177100716	177100716	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:177100716C>T	ENST00000280190.4	+	31	4111	c.3955C>T	c.(3955-3957)Ctc>Ttc	p.L1319F	WDR17_ENST00000507824.2_Missense_Mutation_p.L1294F|WDR17_ENST00000393643.2_Missense_Mutation_p.L1295F|WDR17_ENST00000508596.1_Missense_Mutation_p.L1280F			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1319										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGAATACGACTCAATCCATT	0.368																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3883-3885)Ctc>Ttc		WD repeat domain 17							141.0	129.0	133.0					4																	177100716		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177100716C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3955C>T	4.37:g.177100716C>T	ENSP00000280190:p.Leu1319Phe					WDR17_ENST00000507824.2_Missense_Mutation_p.L1294F|WDR17_ENST00000280190.4_Missense_Mutation_p.L1319F|WDR17_ENST00000508596.1_Missense_Mutation_p.L1280F	p.L1295F	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	30	4135	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1319		A -> T (in dbSNP:rs11736872).			E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3883C>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.111338|4.111338	0.77210|0.77210	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.63096|.	-0.01;0.04;-0.02|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.072960|.	0.56097|.	D|.	0.000031|.	T|T	0.76485|0.76485	0.3994|0.3994	M|M	0.70595|0.70595	2.14|2.14	0.52099|0.52099	D|D	0.999941|0.999941	D;D;D|.	0.65815|.	0.986;0.995;0.995|.	P;P;P|.	0.56700|.	0.717;0.804;0.804|.	T|T	0.74334|0.74334	-0.3699|-0.3699	10|5	0.66056|.	D|.	0.02|.	-12.7112|-12.7112	19.8379|19.8379	0.96666|0.96666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1295;1280;1319|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	F|I	1280;1295;1319;1295|553	ENSP00000422763:L1280F;ENSP00000377258:L1295F;ENSP00000280190:L1319F|.	ENSP00000280190:L1319F|.	L|T	+|+	1|2	0|0	WDR17|WDR17	177337710|177337710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.734000|4.734000	0.62043|0.62043	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	CTC|ACT		0.368	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			75	420	0	0	0	1	0	75	420				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>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.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		21	638	0	0	0	1	0	21	638				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			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_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	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		10	334	0	0	0	1	0	10	334				
CEP112	201134	broad.mit.edu	37	17	64092738	64092738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:64092738G>A	ENST00000392769.2	-	7	873	c.655C>T	c.(655-657)Cga>Tga	p.R219*	CEP112_ENST00000535342.2_Nonsense_Mutation_p.R219*|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	219					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTCAGGTATCGAGGATTTTCT	0.279																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(655-657)Cga>Tga		centrosomal protein 112kDa							29.0	30.0	29.0					17																	64092738		2203	4292	6495	SO:0001587	stop_gained	201134					centrosome		g.chr17:64092738G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.655C>T	17.37:g.64092738G>A	ENSP00000376522:p.Arg219*					CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Nonsense_Mutation_p.R219*	p.R219*	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			7	873	-			219					Q6PIB5|Q8NCR4|Q8NFR4	Nonsense_Mutation	SNP	ENST00000392769.2	37	c.655C>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	38	6.881819	0.97908	.	.	ENSG00000154240	ENST00000535342;ENST00000392769	.	.	.	5.87	4.83	0.62350	.	0.080846	0.47093	D	0.000252	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4747	13.1216	0.59329	0.0:0.0:0.8005:0.1995	.	.	.	.	X	219	.	ENSP00000376522:R219X	R	-	1	2	CEP112	61523200	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.413000	0.44618	2.785000	0.95823	0.591000	0.81541	CGA		0.279	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		19	252	0	0	0	1	0	19	252				
TTBK2	146057	broad.mit.edu	37	15	43044234	43044234	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:43044234C>T	ENST00000267890.6	-	14	3318	c.3210G>A	c.(3208-3210)tcG>tcA	p.S1070S		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1070					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGAACTGAGACGAAGTTGAGC	0.493																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3208-3210)tcG>tcA		tau tubulin kinase 2							175.0	184.0	181.0					15																	43044234		2012	4173	6185	SO:0001819	synonymous_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044234C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3210G>A	15.37:g.43044234C>T							p.S1070S	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3318	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1070					O94932|Q6ZN52|Q8IVV1	Silent	SNP	ENST00000267890.6	37	c.3210G>A	CCDS42029.1																																																																																				0.493	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		116	476	0	0	0	1	0	116	476				
RIMS4	140730	broad.mit.edu	37	20	43400046	43400046	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:43400046G>A	ENST00000372851.3	-	2	172	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R37W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	36					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.R36W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TTCAGCCTCCGGCTGTCCCCT	0.622																																						ENST00000372851.3																			1	Substitution - Missense(1)	p.R36W(1)	ovary(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(106-108)Cgg>Tgg		regulating synaptic membrane exocytosis 4							55.0	55.0	55.0					20																	43400046		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43400046G>A		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.106C>T	20.37:g.43400046G>A	ENSP00000361942:p.Arg36Trp					RIMS4_ENST00000541604.2_Missense_Mutation_p.R37W	p.R36W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			2	172	-		Myeloproliferative disorder(115;0.0122)	36					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.106C>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948065	0.73787	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.25912	1.83;1.77	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	P;D	0.63793	0.881;0.918	T	0.33929	-0.9849	10	0.87932	D	0	.	13.1683	0.59583	0.0:0.0:0.8396:0.1604	.	37;36	E1P613;Q9H426	.;RIMS4_HUMAN	W	36;37	ENSP00000361942:R36W;ENSP00000439287:R37W	ENSP00000361942:R36W	R	-	1	2	RIMS4	42833460	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.390000	0.52523	2.148000	0.66965	0.551000	0.68910	CGG		0.622	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		25	558	0	0	0	1	0	25	558				
EMR4P	326342	broad.mit.edu	37	19	6974579	6974579	+	RNA	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:6974579C>T	ENST00000600751.1	-	0	803					NR_024075.1		Q86SQ3	EMR4_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)										CCGCTCACAACGTAAGAGTTC	0.448																																						ENST00000600751.1																			0																				92.0	80.0	84.0					19																	6974579		692	1591	2283			0							g.chr19:6974579C>T	AY181245		19p13.2	2014-08-08	2008-06-06	2008-06-06	ENSG00000268758	ENSG00000268758		"""-"", ""GPCR / Class B : Orphans"""	19240	pseudogene	pseudogene		612305	"""G protein-coupled receptor 127"", ""egf-like module containing, mucin-like, hormone receptor-like 4"""	GPR127, EMR4		12565841	Standard	NR_024075		Approved	PGR16	uc010xjk.2	Q86SQ3	OTTHUMG00000177251		19.37:g.6974579C>T								NR_024075.1						0	803	-								Q86SP1	RNA	SNP	ENST00000600751.1	37																																																																																						0.448	EMR4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436007.1	NR_024075		9	54	0	0	0	1	0	9	54				
FAM171B	165215	broad.mit.edu	37	2	187559053	187559053	+	Silent	SNP	A	A	G	rs2370706	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:187559053A>G	ENST00000304698.5	+	1	356	c.153A>G	c.(151-153)caA>caG	p.Q51Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	51	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						agcagcaacaacaacaacaac	0.632																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(151-153)caA>caG		family with sequence similarity 171, member B							26.0	29.0	28.0					2																	187559053		2202	4300	6502	SO:0001819	synonymous_variant	165215					integral to membrane	DNA binding	g.chr2:187559053A>G	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.153A>G	2.37:g.187559053A>G						AC017101.10_ENST00000453665.1_RNA	p.Q51Q	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			1	356	+			51			Gln-rich.		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	c.153A>G	CCDS33347.1																																																																																				0.632	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		6	107	0	0	0	1	0	6	107				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			9	145	0	0	0	1	0	9	145				
ATAD2B	54454	broad.mit.edu	37	2	23977530	23977530	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:23977530C>T	ENST00000238789.5	-	26	4536	c.4193G>A	c.(4192-4194)cGt>cAt	p.R1398H	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1398						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATCTCTCACGATCAACTAT	0.403																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(4192-4194)cGt>cAt		ATPase family, AAA domain containing 2B							85.0	88.0	87.0					2																	23977530		1860	4089	5949	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23977530C>T	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4193G>A	2.37:g.23977530C>T	ENSP00000238789:p.Arg1398His					ATAD2B_ENST00000474583.1_5'UTR	p.R1398H	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			26	4536	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1398					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.4193G>A	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.192|5.192	0.221047|0.221047	0.09863|0.09863	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.90261|.	-2.64|.	5.39|5.39	-4.04|-4.04	0.04010|0.04010	.|.	0.279593|.	0.29438|.	N|.	0.012153|.	T|T	0.05410|0.05410	0.0143|0.0143	N|N	0.00095|0.00095	-2.16|-2.16	0.22675|0.22675	N|N	0.998867|0.998867	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.45308|0.45308	-0.9270|-0.9270	10|5	0.02654|.	T|.	1|.	.|.	11.5971|11.5971	0.50979|0.50979	0.0:0.4558:0.0:0.5442|0.0:0.4558:0.0:0.5442	.|.	1398;1393|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	H|M	1398;566|674	ENSP00000238789:R1398H|.	ENSP00000238789:R1398H|.	R|V	-|-	2|1	0|0	ATAD2B|ATAD2B	23831034|23831034	0.195000|0.195000	0.23338|0.23338	0.527000|0.527000	0.27925|0.27925	0.987000|0.987000	0.75469|0.75469	-0.109000|-0.109000	0.10840|0.10840	-0.957000|-0.957000	0.03627|0.03627	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.403	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		21	317	0	0	0	1	0	21	317				
ICA1	3382	broad.mit.edu	37	7	8258081	8258081	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:8258081G>A	ENST00000402384.3	-	6	699	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	ICA1_ENST00000406470.2_Missense_Mutation_p.R145W|ICA1_ENST00000396675.3_Missense_Mutation_p.R145W|ICA1_ENST00000401396.1_Missense_Mutation_p.R133W|ICA1_ENST00000407906.1_Missense_Mutation_p.R145W|ICA1_ENST00000265577.7_Missense_Mutation_p.R144W|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000422063.2_Missense_Mutation_p.R145W			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	145	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GCCCGATGCCGAAAAGTCTCC	0.483																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(433-435)Cgg>Tgg		islet cell autoantigen 1, 69kDa							116.0	100.0	106.0					7																	8258081		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8258081G>A		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.433C>T	7.37:g.8258081G>A	ENSP00000385570:p.Arg145Trp					ICA1_ENST00000265577.7_Missense_Mutation_p.R144W|ICA1_ENST00000407906.1_Missense_Mutation_p.R145W|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000422063.2_Missense_Mutation_p.R145W|ICA1_ENST00000401396.1_Missense_Mutation_p.R133W|ICA1_ENST00000406470.2_Missense_Mutation_p.R145W|ICA1_ENST00000396675.3_Missense_Mutation_p.R145W	p.R145W			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	6	699	-		Ovarian(82;0.0612)	145			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.433C>T	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284344	0.80803	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367;ENST00000447326	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.82	4.92	0.64577	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	M	0.64567	1.98	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.976;0.999;0.98;1.0;0.97;1.0	D	0.86066	0.1535	10	0.51188	T	0.08	-16.4668	13.94	0.64048	0.0:0.0:0.6576:0.3423	.	145;145;144;133;145;133	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	W	145;145;144;145;133;145;145;133;145	ENSP00000385570:R145W;ENSP00000385651:R145W;ENSP00000265577:R144W;ENSP00000379908:R145W;ENSP00000385305:R133W;ENSP00000403982:R145W;ENSP00000386021:R145W;ENSP00000316074:R133W;ENSP00000398435:R145W	ENSP00000265577:R144W	R	-	1	2	ICA1	8224606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.099000	0.57755	1.397000	0.46682	0.655000	0.94253	CGG		0.483	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		68	341	0	0	0	1	0	68	341				
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A	rs62035609		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	27						integral component of membrane (GO:0016021)		p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577																																						ENST00000524087.1																			24	Substitution - coding silent(24)	p.H27H(24)	endometrium(22)|kidney(2)								c.(79-81)caC>caT		nuclear pore complex interacting protein family, member B11																																				SO:0001819	synonymous_variant	728888							g.chr16:29415043G>A			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.81C>T	16.37:g.29415043G>A						SNX29P2_ENST00000398878.3_lincRNA	p.H27H							2	155	-									Silent	SNP	ENST00000524087.1	37	c.81C>T																																																																																					0.577	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		3	58	0	0	0	1	0	3	58				
PROX1	5629	broad.mit.edu	37	1	214170479	214170479	+	Nonsense_Mutation	SNP	C	C	T	rs200548077		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:214170479C>T	ENST00000366958.4	+	2	1209	c.601C>T	c.(601-603)Cga>Tga	p.R201*	PROX1_ENST00000498508.2_Nonsense_Mutation_p.R201*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.R201*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.R201*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	201					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGTGAGTCCCCGAGAAAGTTA	0.502																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(601-603)Cga>Tga		prospero homeobox 1							44.0	49.0	47.0					1																	214170479		2203	4300	6503	SO:0001587	stop_gained	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170479C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.601C>T	1.37:g.214170479C>T	ENSP00000355925:p.Arg201*					PROX1_ENST00000498508.2_Nonsense_Mutation_p.R201*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.R201*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.R201*	p.R201*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1209	+			201					A6NK29|A8K2B1|Q5SW76|Q8TB91	Nonsense_Mutation	SNP	ENST00000366958.4	37	c.601C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	43	10.327939	0.99384	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	6.07	6.07	0.98685	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-1.8463	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	.	.	.	X	201	.	ENSP00000261454:R201X	R	+	1	2	PROX1	212237102	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.382000	0.44345	2.885000	0.99019	0.655000	0.94253	CGA		0.502	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		11	404	0	0	0	1	0	11	404				
C7orf33	202865	broad.mit.edu	37	7	148288176	148288176	+	Silent	SNP	C	C	T	rs549712040		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:148288176C>T	ENST00000307003.2	+	1	520	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	53								p.G53G(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGTTAGGGGCGGTCCAGGTC	0.512																																						ENST00000307003.2																			1	Substitution - coding silent(1)	p.G53G(1)	prostate(1)	central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.(157-159)ggC>ggT		chromosome 7 open reading frame 33							100.0	82.0	88.0					7																	148288176		2203	4300	6503	SO:0001819	synonymous_variant	202865							g.chr7:148288176C>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.159C>T	7.37:g.148288176C>T							p.G53G	NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	520	+	Melanoma(164;0.15)		53						Silent	SNP	ENST00000307003.2	37	c.159C>T	CCDS5890.1																																																																																				0.512	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		84	500	0	0	0	1	0	84	500				
TRPC7	57113	broad.mit.edu	37	5	135692812	135692812	+	Silent	SNP	G	G	A	rs373243219		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:135692812G>A	ENST00000513104.1	-	2	546	c.264C>T	c.(262-264)aaC>aaT	p.N88N	TRPC7_ENST00000355180.3_Silent_p.N88N|TRPC7_ENST00000426057.2_Silent_p.N88N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	88					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTAGGTGCTCGTTGCCCACGG	0.607																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(262-264)aaC>aaT		transient receptor potential cation channel, subfamily C, member 7		G	,,	0,4402		0,0,2201	75.0	83.0	80.0		264,264,264	-2.3	1.0	5		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPC7	NM_001167576.1,NM_001167577.1,NM_020389.2	,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,	88/747,88/802,88/863	135692812	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692812G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.264C>T	5.37:g.135692812G>A						TRPC7_ENST00000355180.3_Silent_p.N88N|TRPC7_ENST00000426057.2_Silent_p.N88N	p.N88N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	546	-			88					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.264C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	7.441	0.640669	0.14386	0.0	1.16E-4	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.0	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.4119	11.7892	0.52059	0.7746:0.0:0.2254:0.0	.	.	.	.	X	88	.	.	R	-	1	2	TRPC7	135720711	0.995000	0.38212	0.982000	0.44146	0.975000	0.68041	0.337000	0.19841	-0.430000	0.07318	-1.075000	0.02238	CGA		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		98	546	0	0	0	1	0	98	546				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		10	388	0	0	0	1	0	10	388				
LRP10	26020	broad.mit.edu	37	14	23346384	23346384	+	Missense_Mutation	SNP	G	G	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:23346384G>T	ENST00000359591.4	+	7	2481	c.1790G>T	c.(1789-1791)gGt>gTt	p.G597V	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	597					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGTGGCACAGGTCCAGCCCGT	0.672																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1789-1791)gGt>gTt		low density lipoprotein receptor-related protein 10							31.0	38.0	36.0					14																	23346384		2201	4296	6497	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346384G>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1790G>T	14.37:g.23346384G>T	ENSP00000352601:p.Gly597Val					LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	p.G597V	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2481	+	all_cancers(95;4.69e-05)		597					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1790G>T	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	6.223	0.409237	0.11812	.	.	ENSG00000197324	ENST00000359591	D	0.93019	-3.15	4.9	4.0	0.46444	.	0.526557	0.20965	N	0.082496	D	0.89708	0.6793	L	0.44542	1.39	0.09310	N	0.99999	B	0.32968	0.392	B	0.37387	0.248	T	0.83140	-0.0109	10	0.51188	T	0.08	-4.5206	7.5525	0.27806	0.1908:0.0:0.8092:0.0	.	597	Q7Z4F1	LRP10_HUMAN	V	597	ENSP00000352601:G597V	ENSP00000352601:G597V	G	+	2	0	LRP10	22416224	0.000000	0.05858	0.057000	0.19452	0.102000	0.19082	0.245000	0.18142	1.418000	0.47098	0.462000	0.41574	GGT		0.672	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			78	316	1	0	4.49761e-31	1	4.91278e-31	78	316				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			12	63	0	0	0	1	0	12	63				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		9	183	0	0	0	1	0	9	183				
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219									tubulin, beta pseudogene 5									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667																																						ENST00000503395.1																			2	Substitution - Missense(2)	p.L85F(2)	urinary_tract(1)|prostate(1)																																																0							g.chr9:141070139C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070139C>T														0	1219	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.667	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		16	452	0	0	0	1	0	16	452				
FZD10	11211	broad.mit.edu	37	12	130648005	130648005	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:130648005G>A	ENST00000229030.4	+	1	1002	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	FZD10_ENST00000539839.1_Silent_p.A140A|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	173					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGGCCGCAGCGGCCCCACAGC	0.726																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(517-519)cGg>cAg		frizzled family receptor 10							14.0	18.0	17.0					12																	130648005		2063	4026	6089	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648005G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.518G>A	12.37:g.130648005G>A	ENSP00000229030:p.Arg173Gln					FZD10_ENST00000539839.1_Silent_p.A140A	p.R173Q			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1002	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		173						Missense_Mutation	SNP	ENST00000229030.4	37	c.518G>A	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	8.719	0.913863	0.17907	.	.	ENSG00000111432	ENST00000229030	T	0.76060	-0.99	4.94	4.05	0.47172	.	0.386985	0.19916	U	0.103198	T	0.58552	0.2130	N	0.21448	0.665	0.47698	D	0.99949	B	0.17852	0.024	B	0.06405	0.002	T	0.50127	-0.8864	10	0.13470	T	0.59	.	13.0224	0.58796	0.0791:0.0:0.9209:0.0	.	173	Q9ULW2	FZD10_HUMAN	Q	173	ENSP00000229030:R173Q	ENSP00000229030:R173Q	R	+	2	0	FZD10	129213958	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.087000	0.57671	1.060000	0.40578	0.491000	0.48974	CGG		0.726	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				21	188	0	0	0	1	0	21	188				
SLIT1	6585	broad.mit.edu	37	10	98763971	98763971	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:98763971G>A	ENST00000266058.4	-	34	3964	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	SLIT1_ENST00000371070.4_Missense_Mutation_p.T1240M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1240	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		ATCGTTGATCGTCTCAGCACT	0.567																																						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.(3718-3720)aCg>aTg		slit homolog 1 (Drosophila)							211.0	185.0	193.0					10																	98763971		2203	4300	6503	SO:0001583	missense	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.chr10:98763971G>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.3719C>T	10.37:g.98763971G>A	ENSP00000266058:p.Thr1240Met					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.T1240M	p.T1240M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	34	3964	-		Colorectal(252;0.162)	1240			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3719C>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	8.709	0.911682	0.17833	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.78481	-1.18;-1.18	5.2	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.094139	0.64402	N	0.000001	T	0.70211	0.3198	L	0.58510	1.815	0.80722	D	1	P	0.35551	0.509	B	0.34138	0.176	T	0.63637	-0.6592	10	0.20519	T	0.43	.	10.8988	0.47038	0.152:0.0:0.848:0.0	.	1240	O75093	SLIT1_HUMAN	M	1240	ENSP00000266058:T1240M;ENSP00000360109:T1240M	ENSP00000266058:T1240M	T	-	2	0	SLIT1	98753961	1.000000	0.71417	0.946000	0.38457	0.192000	0.23643	7.783000	0.85696	0.766000	0.33244	0.655000	0.94253	ACG		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		38	944	0	0	0	1	0	38	944				
NFRKB	4798	broad.mit.edu	37	11	129753985	129753985	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:129753985C>T	ENST00000446488.3	-	7	899	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NFRKB_ENST00000304521.5_Missense_Mutation_p.E266K|NFRKB_ENST00000524794.1_Missense_Mutation_p.E291K|NFRKB_ENST00000524746.1_Missense_Mutation_p.E266K	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	266					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCCGCTTCTCGTGGTGCTTC	0.473																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(796-798)Gag>Aag		nuclear factor related to kappaB binding protein							334.0	275.0	295.0					11																	129753985		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129753985C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.796G>A	11.37:g.129753985C>T	ENSP00000400476:p.Glu266Lys					NFRKB_ENST00000524794.1_Missense_Mutation_p.E291K|NFRKB_ENST00000524746.1_Missense_Mutation_p.E266K|NFRKB_ENST00000304521.5_Missense_Mutation_p.E266K	p.E266K	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	7	899	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	266					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.796G>A	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579891	0.65992	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	N	0.24115	0.695	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.986;0.981;0.992;0.994	T	0.60652	-0.7221	9	0.28530	T	0.3	-28.5975	20.6439	0.99570	0.0:1.0:0.0:0.0	.	278;266;266;291	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	K	266;266;291;266;278	.	ENSP00000303800:E266K	E	-	1	0	NFRKB	129259195	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.899000	0.69846	2.884000	0.98904	0.655000	0.94253	GAG		0.473	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		139	818	0	0	0	1	0	139	818				
RASL10B	91608	broad.mit.edu	37	17	34062239	34062239	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:34062239G>A	ENST00000268864.3	+	2	413	c.36G>A	c.(34-36)gcG>gcA	p.A12A		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	12	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTGGGGGCGCGAGGTGTGG	0.682																																						ENST00000268864.3																			0				breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(34-36)gcG>gcA		RAS-like, family 10, member B							63.0	61.0	62.0					17																	34062239		2202	4300	6502	SO:0001819	synonymous_variant	91608				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr17:34062239G>A	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.36G>A	17.37:g.34062239G>A							p.A12A	NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	413	+			12			Small GTPase-like.		B3KV31	Silent	SNP	ENST00000268864.3	37	c.36G>A	CCDS11297.1																																																																																				0.682	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		56	260	0	0	0	1	0	56	260				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			11	230	0	0	0	1	0	11	230				
OBSCN	84033	broad.mit.edu	37	1	228475547	228475547	+	Missense_Mutation	SNP	C	C	T	rs367605500		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:228475547C>T	ENST00000422127.1	+	36	9741	c.9697C>T	c.(9697-9699)Cgc>Tgc	p.R3233C	OBSCN_ENST00000359599.6_Missense_Mutation_p.R2080C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R352C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3233C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3662C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R352C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3233	Ig-like 32.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATACAGCCTACGCCAGGAGGG	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10984-10986)Cgc>Tgc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	CYS/ARG,CYS/ARG	2,4294		0,2,2146	79.0	87.0	84.0		9697,9697	4.2	1.0	1		84	0,8494		0,0,4247	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	180,180	0,2,6393	TT,TC,CC		0.0,0.0466,0.0156	probably-damaging,probably-damaging	3233/7969,3233/6621	228475547	2,12788	2148	4247	6395	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228475547C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9697C>T	1.37:g.228475547C>T	ENSP00000409493:p.Arg3233Cys					OBSCN_ENST00000422127.1_Missense_Mutation_p.R3233C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3233C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R352C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R352C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2080C	p.R3662C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			41	11058	+		Prostate(94;0.0405)	2695			Ig-like 37.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.10984C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875638	0.51695	4.66E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.06	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075114	0.48286	N	0.000199	T	0.79511	0.4458	M	0.89095	3.005	0.41537	D	0.988493	D;D	0.89917	1.0;1.0	D;P	0.72625	0.978;0.886	T	0.77958	-0.2392	10	0.37606	T	0.19	.	3.8297	0.08868	0.2637:0.5173:0.136:0.0829	.	3233;3233	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3233;3233;352;352;2080	ENSP00000284548:R3233C;ENSP00000409493:R3233C;ENSP00000355668:R352C;ENSP00000355670:R352C;ENSP00000352613:R2080C	ENSP00000284548:R3233C	R	+	1	0	OBSCN	226542170	0.059000	0.20769	0.965000	0.40720	0.044000	0.14063	1.922000	0.40045	1.136000	0.42199	0.561000	0.74099	CGC		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		28	320	0	0	0	1	0	28	320				
P2RY4	5030	broad.mit.edu	37	X	69478725	69478725	+	Silent	SNP	C	C	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:69478725C>A	ENST00000374519.2	-	1	929	c.750G>T	c.(748-750)gtG>gtT	p.V250V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	250					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGACAGTCAGCACCACAGCTA	0.557																																						ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(748-750)gtG>gtT		pyrimidinergic receptor P2Y, G-protein coupled, 4							72.0	60.0	64.0					X																	69478725		2203	4300	6503	SO:0001819	synonymous_variant	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478725C>A	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.750G>T	X.37:g.69478725C>A							p.V250V	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	929	-			250					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	c.750G>T	CCDS14398.1																																																																																				0.557	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		38	219	1	0	1.30998e-17	1	1.40922e-17	38	219				
CCDC74B	91409	broad.mit.edu	37	2	130897920	130897920	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:130897920G>A	ENST00000310463.6	-	5	845	c.708C>T	c.(706-708)aaC>aaT	p.N236N	CCDC74B_ENST00000409943.3_Silent_p.N170N|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Silent_p.N338N	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	236										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CAGCTCCTGCGTTAGAGGCCT	0.627																																						ENST00000392984.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(1012-1014)aaC>aaT		coiled-coil domain containing 74B							97.0	104.0	101.0					2																	130897920		2203	4300	6503	SO:0001819	synonymous_variant	91409							g.chr2:130897920G>A		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.708C>T	2.37:g.130897920G>A						CCDC74B_ENST00000409943.3_Silent_p.N170N|CCDC74B_ENST00000310463.6_Silent_p.N236N	p.N338N			Q96LY2	CC74B_HUMAN			4	1757	-	Colorectal(110;0.1)		236					Q6NW18	Silent	SNP	ENST00000310463.6	37	c.1014C>T	CCDS2155.1																																																																																				0.627	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		10	481	0	0	0	1	0	10	481				
FRMPD1	22844	broad.mit.edu	37	9	37708488	37708488	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:37708488G>A	ENST00000539465.1	+	4	945	c.352G>A	c.(352-354)Gat>Aat	p.D118N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D118N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	118	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACGAGCAGTCGATATTCTCAG	0.463																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(352-354)Gat>Aat		FERM and PDZ domain containing 1							96.0	88.0	90.0					9																	37708488		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37708488G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.352G>A	9.37:g.37708488G>A	ENSP00000444411:p.Asp118Asn					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D118N	p.D118N			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	4	945	+			118			PDZ.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.352G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696486	0.30142	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.38722	1.12;1.12	5.91	0.863	0.19062	PDZ/DHR/GLGF (4);	0.448448	0.27294	N	0.020031	T	0.22282	0.0537	N	0.17901	0.54	0.31784	N	0.630458	B	0.17268	0.021	B	0.15052	0.012	T	0.09228	-1.0684	10	0.33940	T	0.23	-0.9785	5.2235	0.15381	0.311:0.1378:0.5512:0.0	.	118	Q5SYB0	FRPD1_HUMAN	N	118	ENSP00000366995:D118N;ENSP00000444411:D118N	ENSP00000366995:D118N	D	+	1	0	FRMPD1	37698488	0.009000	0.17119	0.038000	0.18304	0.878000	0.50629	-0.224000	0.09164	-0.092000	0.12417	0.650000	0.86243	GAT		0.463	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		72	319	0	0	0	1	0	72	319				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		13	386	1	0	1.50039e-11	1	1.56658e-11	13	386				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	340	0	0	0	1	0	8	340				
FERMT1	55612	broad.mit.edu	37	20	6078257	6078257	+	Missense_Mutation	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:6078257G>C	ENST00000217289.4	-	7	1659	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	FERMT1_ENST00000536936.1_Missense_Mutation_p.Q34E	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	291	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCATAGAGTTGGTTTATTCGG	0.403																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(871-873)Caa>Gaa		fermitin family member 1							143.0	135.0	138.0					20																	6078257		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6078257G>C	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.871C>G	20.37:g.6078257G>C	ENSP00000217289:p.Gln291Glu					FERMT1_ENST00000536936.1_Missense_Mutation_p.Q34E	p.Q291E	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			7	1659	-			291			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.871C>G	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883375	0.91740	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.80304	-1.36;-1.36	5.64	5.64	0.86602	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.994;0.999	D	0.91498	0.5217	10	0.72032	D	0.01	-13.9011	19.3066	0.94165	0.0:0.0:1.0:0.0	.	291;291;291	B2RAX1;Q9BQL6-4;Q9BQL6	.;.;FERM1_HUMAN	E	291;34;291	ENSP00000217289:Q291E;ENSP00000441063:Q34E	ENSP00000217289:Q291E	Q	-	1	0	FERMT1	6026257	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.405000	0.97313	2.673000	0.90976	0.555000	0.69702	CAA		0.403	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		93	441	0	0	0	1	0	93	441				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			11	296	1	0	0.000673444	1	0.000683065	11	296				
TRBV6-7	28600	broad.mit.edu	37	7	142143879	142143879	+	RNA	SNP	A	A	T	rs376540425		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:142143879A>T	ENST00000390373.2	-	0	116									T cell receptor beta variable 6-7 (non-functional)																		CACACAGCAGAGTCATGCTCT	0.507																																						ENST00000390373.2																			0																																																			0							g.chr7:142143879A>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143879A>T														0	116	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.507	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		18	590	0	0	0	1	0	18	590				
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	lincRNA	SNP	G	G	C	rs3118888		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1				long intergenic non-protein coding RNA 264																		GCTGAAACATGGAAGGTAAAA	0.483																																						ENST00000412114.1																			0																																																			0							g.chr10:26880338G>C			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880338G>C								NR_026793.1						0	573	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.483	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		9	213	0	0	0	1	0	9	213				
LINC00969	440993	broad.mit.edu	37	3	195400788	195400788	+	lincRNA	SNP	G	G	A	rs186581396		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:195400788G>A	ENST00000445430.1	+	0	1384									long intergenic non-protein coding RNA 969																		CCGCCTCGGGGCAAACTCGCT	0.602																																						ENST00000445430.1																			0																																																			0							g.chr3:195400788G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400788G>A														0	1384	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.602	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	237	0	0	0	1	0	7	237				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	99	1	0	7.48243e-07	1	7.64392e-07	5	99				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S			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_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S	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		10	330	0	0	0	1	0	10	330				
STYX	6815	broad.mit.edu	37	14	53235556	53235556	+	Splice_Site	SNP	A	A	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:53235556A>T	ENST00000354586.4	+	10	797		c.e10-1		STYX_ENST00000442123.2_Splice_Site|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein						MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					ttttttttttaGGAATATGAA	0.303																																						ENST00000354586.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.e10-1		serine/threonine/tyrosine interacting protein							44.0	45.0	45.0					14																	53235556		2202	4295	6497	SO:0001630	splice_region_variant	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53235556A>T		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.505-1A>T	14.37:g.53235556A>T						STYX_ENST00000442123.2_Splice_Site|STYX_ENST00000556861.1_Intron		NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN			10	797	+	Breast(41;0.176)							B9EJG0|Q99850	Splice_Site	SNP	ENST00000354586.4	37		CCDS9711.1																																																																																				0.303	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251	Intron	9	381	0	0	0	1	0	9	381				
DNM1P47	100216544	broad.mit.edu	37	15	102293002	102293002	+	RNA	SNP	G	G	C	rs202055108	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:102293002G>C	ENST00000561463.1	+	0	1048									DNM1 pseudogene 47																		GCACTCGCGTGGGAACAAGAA	0.592																																						ENST00000561463.1																			0																																																			0							g.chr15:102293002G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293002G>C														0	1048	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	29	0	0	0	1	0	7	29				
TAOK2	9344	broad.mit.edu	37	16	29990391	29990391	+	Splice_Site	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:29990391G>C	ENST00000308893.4	+	6	1492	c.449G>C	c.(448-450)aGg>aCg	p.R150T	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Splice_Site_p.R150T|TAOK2_ENST00000279394.3_Splice_Site_p.R150T	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGATCCATAGGTACAAGCAG	0.582																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.e6+1		TAO kinase 2							75.0	72.0	73.0					16																	29990391		2197	4300	6497	SO:0001630	splice_region_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29990391G>C	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.449+1G>C	16.37:g.29990391G>C						TAOK2_ENST00000279394.3_Splice_Site_p.R150_splice|TAOK2_ENST00000543033.1_Splice_Site_p.R150_splice	p.R150_splice	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			6	1492	+			150			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Splice_Site	SNP	ENST00000308893.4	37	c.449_splice	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991107	0.74703	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.48836	0.8;0.8;0.8	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.87449	0.2400	9	.	.	.	.	18.3871	0.90470	0.0:0.0:1.0:0.0	.	334;150;150;150	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	T	150	ENSP00000310094:R150T;ENSP00000440336:R150T;ENSP00000279394:R150T	.	R	+	2	0	TAOK2	29897892	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.813000	0.99286	2.708000	0.92522	0.467000	0.42956	AGG		0.582	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	Missense_Mutation	123	464	0	0	0	1	0	123	464				
OR6Y1	391112	broad.mit.edu	37	1	158517227	158517227	+	Silent	SNP	G	G	A	rs537972026		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:158517227G>A	ENST00000302617.3	-	1	668	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATAGCAGCGTAGGATGCCA	0.537																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(667-669)taC>taT		olfactory receptor, family 6, subfamily Y, member 1							115.0	109.0	111.0					1																	158517227		2202	4300	6502	SO:0001819	synonymous_variant	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517227G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.669C>T	1.37:g.158517227G>A							p.Y223Y	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	668	-	all_hematologic(112;0.0378)		223					Q6IFS0	Silent	SNP	ENST00000302617.3	37	c.669C>T	CCDS30899.1																																																																																				0.537	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		56	346	0	0	0	1	0	56	346				
OR5D14	219436	broad.mit.edu	37	11	55563781	55563781	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:55563781C>T	ENST00000335605.1	+	1	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGACTTCTATCACCATCTTCC	0.453																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(748-750)atC>atT		olfactory receptor, family 5, subfamily D, member 14							105.0	97.0	100.0					11																	55563781		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563781C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.750C>T	11.37:g.55563781C>T							p.I250I	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	750	+		all_epithelial(135;0.196)	250					Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.750C>T	CCDS31508.1																																																																																				0.453	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		23	514	0	0	0	1	0	23	514				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			10	334	0	0	0	1	0	10	334				
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						ENST00000373818.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		gelsolin							22.0	24.0	23.0					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G						GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000436847.1_Intron		NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN			1	213	+								A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	34	91	0	0	0	1	0	34	91				
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887|rs201639447	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1				espin pseudogene																		GTTGAGCAGCGGCTGAAACCC	0.687													g|||	1622	0.323882	0.1233	0.3703	5008	,	,		35506	0.4792		0.3429	False		,,,				2504	0.3824					ENST00000492551.1																			0																																																			0							g.chr1:17023110G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023110G>A								NR_026567.1						0	1753	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.687	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			20	92	0	0	0	1	0	20	92				
TTN	7273	broad.mit.edu	37	2	179594553	179594553	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:179594553C>T	ENST00000591111.1	-	61	17700	c.17476G>A	c.(17476-17478)Ggg>Agg	p.G5826R	TTN_ENST00000342992.6_Missense_Mutation_p.G4899R|TTN_ENST00000589042.1_Missense_Mutation_p.G6143R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12625	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCATTCCCGTCTAGATAC	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18427-18429)Ggg>Agg		titin							75.0	72.0	73.0					2																	179594553		1886	4122	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594553C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17476G>A	2.37:g.179594553C>T	ENSP00000465570:p.Gly5826Arg					TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4899R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5826R	p.G6143R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	18651	-			5826			Ig-like 42.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18427G>A		.	.	.	.	.	.	.	.	.	.	C	15.60	2.882338	0.51908	.	.	ENSG00000155657	ENST00000342992	T	0.75821	-0.97	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87680	0.6238	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87329	0.2323	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5826	Q8WZ42	TITIN_HUMAN	R	4899	ENSP00000343764:G4899R	ENSP00000343764:G4899R	G	-	1	0	TTN	179302798	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	5.761000	0.68801	2.941000	0.99782	0.655000	0.94253	GGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	287	0	0	0	1	0	7	287				
ZSWIM2	151112	broad.mit.edu	37	2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T	rs200253183	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:187698677C>T	ENST00000295131.2	-	6	863	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18511	0.0		0.0	False		,,,				2504	0.0					ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(823-825)cGt>cAt		zinc finger, SWIM-type containing 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	107.0	112.0		824	5.8	1.0	2		112	0,8600		0,0,4300	no	missense	ZSWIM2	NM_182521.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	275/634	187698677	1,13005	2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187698677C>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.824G>A	2.37:g.187698677C>T	ENSP00000295131:p.Arg275His						p.R275H	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		6	863	-			275					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.824G>A	CCDS33348.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.35	3.366207	0.61513	2.27E-4	0.0	ENSG00000163012	ENST00000295131	D	0.87650	-2.28	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000044	D	0.91287	0.7253	L	0.47190	1.495	0.47374	D	0.999403	D	0.89917	1.0	D	0.74023	0.982	D	0.91766	0.5424	10	0.87932	D	0	-19.6714	16.9191	0.86159	0.0:1.0:0.0:0.0	.	275	Q8NEG5	ZSWM2_HUMAN	H	275	ENSP00000295131:R275H	ENSP00000295131:R275H	R	-	2	0	ZSWIM2	187406922	0.998000	0.40836	0.997000	0.53966	0.106000	0.19336	4.940000	0.63533	2.722000	0.93159	0.467000	0.42956	CGT		0.363	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		24	210	0	0	0	1	0	24	210				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			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.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	601	0	0	0	1	0	14	601				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			12	285	0	0	0	1	0	12	285				
HLA-F-AS1	285830	broad.mit.edu	37	6	29713370	29713370	+	RNA	SNP	G	G	A	rs2076175	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:29713370G>A	ENST00000458236.1	-	0	228									HLA-F antisense RNA 1																		CACTGTCCCCGGGGCCCTGCC	0.602													G|||	1136	0.226837	0.1868	0.2176	5008	,	,		19266	0.3859		0.2594	False		,,,				2504	0.09					ENST00000458236.1																			0																																																			0							g.chr6:29713370G>A	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29713370G>A														0	228	-									RNA	SNP	ENST00000458236.1	37																																																																																						0.602	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		4	143	0	0	0	1	0	4	143				
SPATA31D1	389763	broad.mit.edu	37	9	84605871	84605871	+	Silent	SNP	G	G	A	rs575416308	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:84605871G>A	ENST00000344803.2	+	4	533	c.486G>A	c.(484-486)tcG>tcA	p.S162S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	162					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGCTTCTTCGGCTTCTGCGA	0.562													A|||	7	0.00139776	0.003	0.0	5008	,	,		19167	0.0		0.003	False		,,,				2504	0.0					ENST00000344803.2																			0											c.(484-486)tcG>tcA		SPATA31 subfamily D, member 1							122.0	120.0	121.0					9																	84605871		1998	4165	6163	SO:0001819	synonymous_variant	389763							g.chr9:84605871G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.486G>A	9.37:g.84605871G>A							p.S162S	NM_001001670.2	NP_001001670.1					4	533	+									Silent	SNP	ENST00000344803.2	37	c.486G>A	CCDS47986.1																																																																																				0.562	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		84	397	0	0	0	1	0	84	397				
HLA-DQB2	3120	broad.mit.edu	37	6	32726774	32726774	+	Missense_Mutation	SNP	C	C	T	rs200716952		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:32726774C>T	ENST00000437316.2	-	3	562	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	171	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)	p.A167T(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACAACACCGGCTGTCTCCTCC	0.542																																						ENST00000435145.2																			1	Substitution - Missense(1)	p.A167T(1)	kidney(1)	endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(499-501)Gcc>Acc		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32726774C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.499G>A	6.37:g.32726774C>T	ENSP00000396330:p.Ala167Thr					HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T	p.A167T			Q5SR06	Q5SR06_HUMAN			3	560	-			167					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.499G>A		.	.	.	.	.	.	.	.	.	.	C	10.03	1.238159	0.22711	.	.	ENSG00000232629	ENST00000437316;ENST00000435145;ENST00000411527	T;T;T	0.02812	4.15;4.15;4.15	3.43	2.56	0.30785	.	0.330401	0.23935	U	0.043113	T	0.00967	0.0032	L	0.33189	0.99	0.23425	N	0.997708	B;B	0.19073	0.001;0.033	B;B	0.26310	0.014;0.068	T	0.47394	-0.9121	10	0.33940	T	0.23	.	8.9215	0.35615	0.0:0.8839:0.0:0.1161	.	167;167	A2ADX3;Q5SR06	.;.	T	167	ENSP00000396330:A167T;ENSP00000410512:A167T;ENSP00000390431:A167T	ENSP00000390431:A167T	A	-	1	0	HLA-DQB2	32834752	0.000000	0.05858	0.869000	0.34112	0.359000	0.29487	0.045000	0.14013	0.784000	0.33661	-0.333000	0.08304	GCC		0.542	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			24	252	0	0	0	1	0	24	252				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	76	0	0	0	1	0	7	76				
PCDHB8	56128	broad.mit.edu	37	5	140559743	140559743	+	Missense_Mutation	SNP	G	G	A	rs142723933	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:140559743G>A	ENST00000239444.2	+	1	2373	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	710					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCT	0.677																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(2128-2130)Gtg>Atg									95.0	97.0	96.0					5																	140559743		2201	4298	6499	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559743G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2128G>A	5.37:g.140559743G>A	ENSP00000239444:p.Val710Met						p.V710M	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2373	+			710					B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.2128G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988166	0.53934	.	.	ENSG00000120322	ENST00000239444	T	0.15256	2.44	4.22	0.734	0.18294	.	.	.	.	.	T	0.26955	0.0660	M	0.92317	3.295	0.09310	N	1	P	0.38745	0.645	B	0.35770	0.21	T	0.19451	-1.0305	9	0.72032	D	0.01	.	8.2196	0.31532	0.4409:0.0:0.5591:0.0	.	710	Q9UN66	PCDB8_HUMAN	M	710	ENSP00000239444:V710M	ENSP00000239444:V710M	V	+	1	0	PCDHB8	140539927	0.011000	0.17503	0.084000	0.20598	0.243000	0.25628	0.173000	0.16724	0.252000	0.21531	0.298000	0.19748	GTG		0.677	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		82	897	0	0	0	1	0	82	897				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			13	141	0	0	0	1	0	13	141				
SPAM1	6677	broad.mit.edu	37	7	123593723	123593723	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:123593723C>T	ENST00000439500.1	+	4	712	c.99C>T	c.(97-99)tgC>tgT	p.C33C	SPAM1_ENST00000402183.2_Silent_p.C33C|SPAM1_ENST00000340011.5_Silent_p.C33C|SPAM1_ENST00000460182.1_Silent_p.C33C|SPAM1_ENST00000223028.7_Silent_p.C33C	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	33					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCCATGTTGCTTGACTCTGA	0.413																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(97-99)tgC>tgT		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						83.0	77.0	79.0					7																	123593723		2203	4300	6503	SO:0001819	synonymous_variant	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123593723C>T	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.99C>T	7.37:g.123593723C>T						SPAM1_ENST00000460182.1_Silent_p.C33C|SPAM1_ENST00000402183.2_Silent_p.C33C|SPAM1_ENST00000439500.1_Silent_p.C33C|SPAM1_ENST00000223028.7_Silent_p.C33C	p.C33C	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	456	+			33					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.99C>T	CCDS5791.1																																																																																				0.413	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			55	237	0	0	0	1	0	55	237				
DNHD1	144132	broad.mit.edu	37	11	6592936	6592936	+	Missense_Mutation	SNP	C	C	T	rs375322690		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:6592936C>T	ENST00000527990.2	+	41	13982	c.13982C>T	c.(13981-13983)gCg>gTg	p.A4661V	DNHD1_ENST00000254579.6_Missense_Mutation_p.A4661V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4661					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTCCTACATGCGGAGTGGGAC	0.627																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13981-13983)gCg>gTg		dynein heavy chain domain 1		C	VAL/ALA	1,4179		0,1,2089	34.0	44.0	41.0		13982	4.8	0.1	11		41	0,8430		0,0,4215	no	missense	DNHD1	NM_144666.2	64	0,1,6304	TT,TC,CC		0.0,0.0239,0.0079	probably-damaging	4661/4754	6592936	1,12609	2090	4215	6305	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592936C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13982C>T	11.37:g.6592936C>T	ENSP00000436180:p.Ala4661Val					DNHD1_ENST00000527990.2_Missense_Mutation_p.A4661V	p.A4661V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	43	14546	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4661					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13982C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306357	0.81247	2.39E-4	0.0	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.16196	2.36;2.36	4.75	4.75	0.60458	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.40886	0.1135	M	0.67953	2.075	0.32829	D	0.503832	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50499	-0.8821	10	0.48119	T	0.1	-13.3807	16.6824	0.85296	0.0:1.0:0.0:0.0	.	3749;714;4661	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	V	4661;4661;929	ENSP00000254579:A4661V;ENSP00000436180:A4661V	ENSP00000254579:A4661V	A	+	2	0	DNHD1	6549512	0.984000	0.35163	0.085000	0.20634	0.766000	0.43426	4.130000	0.57964	2.468000	0.83385	0.655000	0.94253	GCG		0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	101	0	0	0	1	0	12	101				
CCDC85A	114800	broad.mit.edu	37	2	56419682	56419682	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:56419682G>A	ENST00000407595.2	+	2	849	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GATGATGACCGGCAGAAAGGC	0.527																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(346-348)cGg>cAg		coiled-coil domain containing 85A							76.0	83.0	81.0					2																	56419682		1972	4159	6131	SO:0001583	missense	114800							g.chr2:56419682G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.347G>A	2.37:g.56419682G>A	ENSP00000384040:p.Arg116Gln					RP11-482H16.1_ENST00000607540.1_RNA	p.R116Q	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	849	+			116						Missense_Mutation	SNP	ENST00000407595.2	37	c.347G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021809	0.93462	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.27	5.27	0.74061	.	0.051335	0.85682	D	0.000000	D	0.83871	0.5348	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86316	0.1689	9	0.87932	D	0	-27.2196	18.8832	0.92365	0.0:0.0:1.0:0.0	.	116	Q96PX6	CC85A_HUMAN	Q	116	.	ENSP00000384040:R116Q	R	+	2	0	CCDC85A	56273186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.455000	0.83008	0.655000	0.94253	CGG		0.527	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			54	334	0	0	0	1	0	54	334				
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	SNP	G	G	T	rs201713470	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602G>T																													9.37:g.41962602G>T								NR_003670.1						0	902	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			22	217	1	0	8.24728e-16	1	8.80537e-16	22	217				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			12	286	0	0	0	1	0	12	286				
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)Aga>Tga																																						SO:0001587	stop_gained	0							g.chr20:29625955A>T			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.199A>T	20.37:g.29625955A>T	ENSP00000278882:p.Arg67*					FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*	p.R67*							5	579	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.199A>T		.	.	.	.	.	.	.	.	.	.	a	29.6	5.022161	0.93462	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	.	.	.	X	67;72;67	.	ENSP00000278882:R67X	R	+	1	2	FRG1B	28239616	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	3.670000	0.54569	1.028000	0.39785	0.155000	0.16302	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		25	542	0	0	0	1	0	25	542				
SLC29A4	222962	broad.mit.edu	37	7	5330780	5330780	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:5330780C>T	ENST00000396872.3	+	4	488	c.327C>T	c.(325-327)agC>agT	p.S109S	SLC29A4_ENST00000406453.3_Silent_p.S109S|SLC29A4_ENST00000297195.4_Silent_p.S109S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	109					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TTGACATGAGCCTCACCTACA	0.632																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(325-327)agC>agT		solute carrier family 29 (equilibrative nucleoside transporter), member 4							101.0	86.0	91.0					7																	5330780		2203	4300	6503	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330780C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.327C>T	7.37:g.5330780C>T						SLC29A4_ENST00000297195.4_Silent_p.S109S|SLC29A4_ENST00000406453.3_Silent_p.S109S	p.S109S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	4	488	+		Ovarian(82;0.0175)	109					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.327C>T	CCDS5340.1																																																																																				0.632	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		39	295	0	0	0	1	0	39	295				
CORIN	10699	broad.mit.edu	37	4	47682234	47682234	+	Silent	SNP	G	G	A	rs574925971		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:47682234G>A	ENST00000273857.4	-	8	1055	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	CORIN_ENST00000505909.1_Intron|CORIN_ENST00000508498.1_Silent_p.D213D|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Silent_p.D285D	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	352	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGCAGCGCCCGTCCCCGCAGC	0.532																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1054-1056)gaC>gaT		corin, serine peptidase							114.0	87.0	96.0					4																	47682234		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47682234G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1056C>T	4.37:g.47682234G>A						CORIN_ENST00000505909.1_Intron|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000508498.1_Silent_p.D213D|CORIN_ENST00000502252.1_Silent_p.D285D	p.D352D	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			8	1055	-			352			LDL-receptor class A 3.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.1056C>T	CCDS3477.1																																																																																				0.532	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			32	169	0	0	0	1	0	32	169				
NBPF10	100132406	broad.mit.edu	37	1	145296448	145296448	+	Missense_Mutation	SNP	T	T	A	rs4996268		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:145296448T>A	ENST00000342960.5	+	3	405	c.370T>A	c.(370-372)Tat>Aat	p.Y124N	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	124						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Y124N(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCGCTCATTGTATGAGCATCT	0.562																																						ENST00000342960.5																			2	Substitution - Missense(2)	p.Y124N(2)	kidney(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(370-372)Tat>Aat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296448T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.370T>A	1.37:g.145296448T>A	ENSP00000345684:p.Tyr124Asn					NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	p.Y124N	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	405	+	all_hematologic(923;0.032)		124					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.370T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.880827	0.00061	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02552	4.25	1.04	-2.09	0.07232	.	.	.	.	.	T	0.00109	0.0003	N	0.00075	-2.25	0.09310	N	1	.	.	.	.	.	.	T	0.35351	-0.9792	7	0.02654	T	1	.	3.206	0.06666	0.3078:0.4616:0.0:0.2307	rs4996268	.	.	.	N	124;49;124	ENSP00000345684:Y124N	ENSP00000345684:Y124N	Y	+	1	0	NBPF10	144007805	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.048000	0.14078	-3.520000	0.00148	-3.904000	0.00016	TAT		0.562	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		61	753	0	0	0	1	0	61	753				
OR7D4	125958	broad.mit.edu	37	19	9325150	9325150	+	Missense_Mutation	SNP	G	G	A	rs552376975		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:9325150G>A	ENST00000308682.2	-	1	392	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GCCACAAACCGGTCATAGGCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20891	0.0		0.0	False		,,,				2504	0.001					ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(364-366)Cgg>Tgg		olfactory receptor, family 7, subfamily D, member 4							87.0	79.0	82.0					19																	9325150		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325150G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.364C>T	19.37:g.9325150G>A	ENSP00000310488:p.Arg122Trp						p.R122W	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	392	-			122					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.364C>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	9.590	1.125799	0.20959	.	.	ENSG00000174667	ENST00000308682	T	0.77620	-1.11	4.0	0.493	0.16878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.81240	0.4781	H	0.97390	3.995	0.33784	D	0.62468	B	0.22211	0.066	B	0.08055	0.003	T	0.78301	-0.2257	10	0.87932	D	0	.	5.4796	0.16717	0.1815:0.0:0.6597:0.1588	.	122	Q8NG98	OR7D4_HUMAN	W	122	ENSP00000310488:R122W	ENSP00000310488:R122W	R	-	1	2	OR7D4	9186150	0.375000	0.25089	0.907000	0.35723	0.323000	0.28346	0.213000	0.17521	0.107000	0.17824	-0.436000	0.05848	CGG		0.502	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			69	354	0	0	0	1	0	69	354				
HPR	3250	broad.mit.edu	37	16	72110604	72110604	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:72110604C>T	ENST00000540303.2	+	5	703	c.671C>T	c.(670-672)tCt>tTt	p.S224F	HPR_ENST00000356967.5_Missense_Mutation_p.S224F|HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.S261F	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	224	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGTTACGTGTCTGGCTGGGGA	0.453																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(670-672)tCt>tTt		haptoglobin-related protein							188.0	138.0	155.0					16																	72110604		2060	4186	6246	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110604C>T	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.671C>T	16.37:g.72110604C>T	ENSP00000441828:p.Ser224Phe					HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.S224F|HPR_ENST00000228226.8_Missense_Mutation_p.S261F	p.S224F	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			5	703	+		Ovarian(137;0.125)	224			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.671C>T	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	11.02	1.515799	0.27123	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.93811	-3.29;-3.29;-3.29	2.5	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.068951	0.64402	D	0.000013	D	0.96676	0.8915	M	0.92122	3.275	0.37659	D	0.922709	D	0.76494	0.999	D	0.78314	0.991	D	0.96891	0.9653	10	0.87932	D	0	.	8.5567	0.33485	0.0:0.76:0.24:0.0	.	224	P00739	HPTR_HUMAN	F	224;224;261	ENSP00000349451:S224F;ENSP00000441828:S224F;ENSP00000228226:S261F	ENSP00000228226:S261F	S	+	2	0	HP	70668105	0.998000	0.40836	0.906000	0.35671	0.026000	0.11368	3.369000	0.52365	1.386000	0.46466	0.205000	0.17691	TCT		0.453	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		96	517	0	0	0	1	0	96	517				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			14	341	0	0	0	1	0	14	341				
TP53	7157	broad.mit.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:7577118C>A	ENST00000269305.4	-	8	1009	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000420246.2_Missense_Mutation_p.V274F|TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGCACAAACACGCACCTCA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		54	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Unknown(2)	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)	large_intestine(9)|breast(7)|upper_aerodigestive_tract(6)|ovary(4)|prostate(4)|bone(4)|central_nervous_system(3)|urinary_tract(3)|lung(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|adrenal_gland(1)|stomach(1)|soft_tissue(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(820-822)Gtt>Ttt	Other conserved DNA damage response genes	tumor protein p53							69.0	60.0	63.0					17																	7577118		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577118C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.820G>T	17.37:g.7577118C>A	ENSP00000269305:p.Val274Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000269305.4_Missense_Mutation_p.V274F	p.V274F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	952	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	274		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.820G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201113	0.38905	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99832	-7.02;-7.02;-7.02;-7.02;-7.02;-7.02	4.92	-0.763	0.11030	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99670	0.9877	M	0.87456	2.885	0.38916	D	0.957632	B;D;B;B	0.56746	0.434;0.977;0.209;0.125	B;P;P;B	0.61477	0.373;0.889;0.561;0.389	D	0.99218	1.0878	10	0.87932	D	0	-10.2267	9.2232	0.37390	0.0:0.5803:0.0:0.4197	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	274;274;274;274;274;263;142	ENSP00000352610:V274F;ENSP00000269305:V274F;ENSP00000398846:V274F;ENSP00000391127:V274F;ENSP00000391478:V274F;ENSP00000425104:V142F	ENSP00000269305:V274F	V	-	1	0	TP53	7517843	0.002000	0.14202	0.148000	0.22405	0.724000	0.41520	-0.002000	0.12924	-0.004000	0.14419	0.462000	0.41574	GTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	124	1	0	4.31634e-10	1	4.44145e-10	34	124				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		18	225	0	0	0	1	0	18	225				
ABCC9	10060	broad.mit.edu	37	12	21968727	21968727	+	Silent	SNP	G	G	A	rs377704379		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:21968727G>A	ENST00000261201.4	-	32	3992	c.3993C>T	c.(3991-3993)caC>caT	p.H1331H	ABCC9_ENST00000261200.4_Silent_p.H1331H|ABCC9_ENST00000345162.2_Silent_p.H1295H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1331	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAGCCTTGACGTGCTTAAGAA	0.383																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3991-3993)caC>caT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	G	,	0,4406		0,0,2203	164.0	150.0	155.0		3993,3993	0.2	1.0	12		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABCC9	NM_005691.2,NM_020297.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1331/1550,1331/1550	21968727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21968727G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3993C>T	12.37:g.21968727G>A						ABCC9_ENST00000261201.4_Silent_p.H1331H|ABCC9_ENST00000345162.2_Silent_p.H1295H	p.H1331H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			32	3992	-			1331			ABC transporter 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.3993C>T	CCDS8694.1																																																																																				0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		40	442	0	0	0	1	0	40	442				
SPECC1	92521	broad.mit.edu	37	17	20224876	20224876	+	IGR	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:20224876G>A	ENST00000395530.2	+	0	8133				AC004702.2_ENST00000580225.1_lincRNA|CCDC144CP_ENST00000340196.4_RNA|U6_ENST00000517027.1_RNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGATCTTGGCGAGCTCCACAG	0.622																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:20224876G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224876G>A						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1	.	.	.	.	.	.	.	.	.	.	.	0.941	-0.709634	0.03230	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	0.43	-0.86	0.10680	.	.	.	.	.	T	0.10594	0.0259	.	.	.	0.23421	N	0.997712	.	.	.	.	.	.	T	0.29027	-1.0025	3	0.02654	T	1	.	.	.	.	.	.	.	.	K	83	.	ENSP00000343605:E83K	E	+	1	0	CCDC144C	20165468	0.030000	0.19436	0.000000	0.03702	0.000000	0.00434	-0.558000	0.05978	-1.249000	0.02500	-1.244000	0.01528	GAG		0.622	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		267	858	0	0	0	1	0	267	858				
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C	rs371946225	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522																																						ENST00000550753.1																			0																																																			0							g.chr16:22588087G>C																													16.37:g.22588087G>C								NR_003676.2						0	2562	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.522	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			8	184	0	0	0	1	0	8	184				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		15	546	0	0	0	1	0	15	546				
PRAMEF1	65121	broad.mit.edu	37	1	12854372	12854372	+	Missense_Mutation	SNP	T	T	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:12854372T>C	ENST00000332296.7	+	3	699	c.596T>C	c.(595-597)tTg>tCg	p.L199S	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	199					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAAGTCATTGAAAATAATA	0.403																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(595-597)tTg>tCg		PRAME family member 1							266.0	266.0	266.0					1																	12854372		2203	4300	6503	SO:0001583	missense	65121							g.chr1:12854372T>C	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.596T>C	1.37:g.12854372T>C	ENSP00000332134:p.Leu199Ser						p.L199S	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	699	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	199					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.596T>C	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.22	1.290503	0.23478	.	.	ENSG00000116721	ENST00000332296	T	0.01304	5.03	1.74	-0.699	0.11277	.	0.103357	0.40385	N	0.001104	T	0.06462	0.0166	M	0.86651	2.83	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11817	-1.0572	10	0.66056	D	0.02	.	4.2602	0.10737	0.0:0.4723:0.0:0.5277	.	199	O95521	PRAM1_HUMAN	S	199	ENSP00000332134:L199S	ENSP00000332134:L199S	L	+	2	0	PRAMEF1	12776959	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.259000	0.18405	-0.203000	0.10251	-0.451000	0.05528	TTG		0.403	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		202	2918	0	0	0	1	0	202	2918				
WASH4P	374677	broad.mit.edu	37	16	67048	67048	+	Nonsense_Mutation	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:67048G>C	ENST00000326592.9	-	5	1246	c.588C>G	c.(586-588)taC>taG	p.Y196*	Z84812.4_ENST00000568710.1_RNA|DDX11L10_ENST00000513886.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	196					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CATACTTCTTGTACCTACAGA	0.577																																						ENST00000326592.9																			0											c.(586-588)taC>taG																																						SO:0001587	stop_gained	0							g.chr16:67048G>C			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.588C>G	16.37:g.67048G>C	ENSP00000317542:p.Tyr196*						p.Y196*							5	1246	-									Nonsense_Mutation	SNP	ENST00000326592.9	37	c.588C>G		.	.	.	.	.	.	.	.	.	.	g	11.92	1.781825	0.31502	.	.	ENSG00000234769	ENST00000326592;ENST00000538848	.	.	.	0.379	-0.758	0.11049	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7234	3.8937	0.09130	0.591:0.0:0.409:0.0	.	.	.	.	X	196;169	.	ENSP00000317542:Y196X	Y	-	3	2	WASH4P	7048	0.999000	0.42202	0.312000	0.25196	0.079000	0.17450	0.459000	0.21908	-0.462000	0.06984	-1.139000	0.01908	TAC		0.577	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159		8	131	0	0	0	1	0	8	131				
SIPA1L3	23094	broad.mit.edu	37	19	38631993	38631993	+	Missense_Mutation	SNP	G	G	A	rs373059257		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:38631993G>A	ENST00000222345.6	+	11	3822	c.3313G>A	c.(3313-3315)Ggc>Agc	p.G1105S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1105					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACCACTCCCGGCCATGCCCA	0.677																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3313-3315)Ggc>Agc		signal-induced proliferation-associated 1 like 3		G	SER/GLY	0,4406		0,0,2203	52.0	59.0	57.0		3313	4.5	0.9	19		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIPA1L3	NM_015073.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1105/1782	38631993	1,13005	2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38631993G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3313G>A	19.37:g.38631993G>A	ENSP00000222345:p.Gly1105Ser						p.G1105S	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		11	3822	+			1105					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3313G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693622	0.48202	0.0	1.16E-4	ENSG00000105738	ENST00000222345	T	0.75821	-0.97	4.47	4.47	0.54385	.	0.357974	0.27971	N	0.017118	T	0.60856	0.2301	L	0.40543	1.245	0.42698	D	0.993608	P	0.44776	0.843	B	0.30855	0.121	T	0.64643	-0.6359	10	0.28530	T	0.3	-39.7275	16.0823	0.81012	0.0:0.0:1.0:0.0	.	1105	O60292	SI1L3_HUMAN	S	1105	ENSP00000222345:G1105S	ENSP00000222345:G1105S	G	+	1	0	SIPA1L3	43323833	0.984000	0.35163	0.921000	0.36526	0.306000	0.27790	1.874000	0.39568	2.326000	0.78906	0.460000	0.39030	GGC		0.677	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		56	690	0	0	0	1	0	56	690				
RFPL3	10738	broad.mit.edu	37	22	32756681	32756681	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:32756681C>T	ENST00000249007.4	+	2	1021	c.816C>T	c.(814-816)agC>agT	p.S272S	RFPL3_ENST00000397468.1_Silent_p.S243S|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Silent_p.S243S|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000461833.1_5'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	272	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CATTCAGGAGCGTCTCTGCTG	0.478																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(814-816)agC>agT		ret finger protein-like 3							110.0	96.0	101.0					22																	32756681		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32756681C>T	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.816C>T	22.37:g.32756681C>T						RFPL3_ENST00000382088.3_Silent_p.S243S|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000397468.1_Silent_p.S243S|RFPL3S_ENST00000382084.4_3'UTR	p.S272S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			2	1021	+			272			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.816C>T	CCDS43011.1																																																																																				0.478	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		92	436	0	0	0	1	0	92	436				
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		11	1026						11	1026	---	---	---	---
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T	rs570205705		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:12785492_12785493insT	ENST00000359318.5	+	4	787_788	c.582_583insT	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Ins_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(370-375)tagtttfs		arylacetamide deacetylase-like 3																																				SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785492_12785493insT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.583dupT	1.37:g.12785493_12785493dupT	ENSP00000352268:p.Cys195fs					AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	p.*F124fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	598_599	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	194					B3KXR9|Q5VUY1	Frame_Shift_Ins	INS	ENST00000359318.5	37	c.372_373insT	CCDS41253.1																																																																																				0.455	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		9	1316						9	1316	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		13	419						13	419	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		11	1217						11	1217	---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34666398	34666398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:34666398delA	ENST00000488417.1	+	3	1155	c.1035delA	c.(1033-1035)ccafs	p.P345fs	C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	345										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAGGAGCCAAAAAAGGGTC	0.572																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1033-1035)ccfs		chromosome 1 open reading frame 94							71.0	69.0	70.0					1																	34666398		2203	4300	6503	SO:0001589	frameshift_variant	84970						protein binding	g.chr1:34666398delA	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1035delA	1.37:g.34666398delA	ENSP00000435634:p.Pro345fs					C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	p.P345fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1155	+		Myeloproliferative disorder(586;0.0393)	155					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Frame_Shift_Del	DEL	ENST00000488417.1	37	c.1035delA	CCDS44108.1																																																																																				0.572	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		8	544						8	544	---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1279-1284)ctaaaafs		zinc finger, MYM-type 4																																				SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35846959_35846960insA	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs					ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			8	1361_1362	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	427					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	ENST00000314607.6	37	c.1281_1282insA	CCDS389.1																																																																																				0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		10	467						10	467	---	---	---	---
RPE65	6121	broad.mit.edu	37	1	68903931	68903931	+	Frame_Shift_Del	DEL	T	T	-	rs281865520		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:68903931delT	ENST00000262340.5	-	10	1120	c.1067delA	c.(1066-1068)aatfs	p.N356fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	356					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTTTCTGGCATTTTTTTTCAC	0.348																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35	GRCh37	CD972436	RPE65	D		c.(1066-1068)atfs		retinal pigment epithelium-specific protein 65kDa							98.0	100.0	99.0					1																	68903931		2203	4300	6503	SO:0001589	frameshift_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68903931delT	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1067delA	1.37:g.68903931delT	ENSP00000262340:p.Asn356fs						p.N356fs	NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			10	1120	-			356					A8K1L0|Q5T9U3	Frame_Shift_Del	DEL	ENST00000262340.5	37	c.1067delA	CCDS643.1																																																																																				0.348	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		7	340						7	340	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		9	183						9	183	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		16	701						16	701	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93667515	93667516	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:93667515_93667516insA	ENST00000343253.7	+	7	1267_1268	c.765_766insA	c.(766-768)aaafs	p.K256fs	CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.K256fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.K55fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.K374fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	256								p.V377fs*15(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCCAACAATATAAAAAAAAAGT	0.317																																						ENST00000343253.7																			1	Deletion - Frameshift(1)	p.V377fs*15(1)	ovary(1)	breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(763-768)taaaaafs		coiled-coil domain containing 18																																				SO:0001589	frameshift_variant	343099							g.chr1:93667515_93667516insA			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.774dupA	1.37:g.93667524_93667524dupA	ENSP00000343377:p.Lys256fs					CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.*K255fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.*K373fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.*K54fs	p.*K255fs			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	7	1267_1268	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	255					Q6ZU17	Frame_Shift_Ins	INS	ENST00000343253.7	37	c.765_766insA																																																																																					0.317	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		7	181						7	181	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97771791	97771791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:97771791delA	ENST00000370192.3	-	17	2221	c.2121delT	c.(2119-2121)tttfs	p.F707fs	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	707					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCAGCTTGGCAAAAAAAGGAA	0.428																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2119-2121)ttfs		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						171.0	169.0	170.0					1																	97771791		2203	4300	6503	SO:0001589	frameshift_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771791delA	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2121delT	1.37:g.97771791delA	ENSP00000359211:p.Phe707fs					DPYD-AS1_ENST00000422980.1_RNA	p.F707fs	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2221	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	707					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Frame_Shift_Del	DEL	ENST00000370192.3	37	c.2121delT	CCDS30777.1																																																																																				0.428	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		10	1277						10	1277	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		16	49						16	49	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	257						7	257	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121139067	121139069	+	lincRNA	DEL	AGA	AGA	-	rs587708837	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:121139067_121139069delAGA	ENST00000417218.1	+	0	454_456				RP11-343N15.1_ENST00000437515.1_lincRNA																							GGGCAGCTCCAGAAGCTCATCGT	0.655														8	0.00159744	0.0	0.0	5008	,	,		18133	0.0		0.008	False		,,,				2504	0.0					ENST00000417218.1																			0																																																			0							g.chr1:121139067_121139069delAGA																													1.37:g.121139067_121139069delAGA						RP11-343N15.1_ENST00000437515.1_lincRNA								0	454_456	+									RNA	DEL	ENST00000417218.1	37																																																																																						0.655	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			7	20						7	20	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		13	163						13	163	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2263-2265)ggfs		ADAMTS-like 4							41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530506delG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs					ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs	p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		758			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2263delG	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		8	930						8	930	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318741	151318741	+	Frame_Shift_Del	DEL	G	G	-	rs548049340		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:151318741delG	ENST00000290524.4	-	3	234	c.56delC	c.(55-57)ccafs	p.P19fs	RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000368870.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000452513.2_Frame_Shift_Del_p.P19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	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)			AGCACCACCTGGGGGGGCCCT	0.557																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(55-57)cafs		regulatory factor X, 5 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318741delG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.56delC	1.37:g.151318741delG	ENSP00000290524:p.Pro19fs					RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000452513.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000452671.2_Frame_Shift_Del_p.P19fs	p.P19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	234	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Del	DEL	ENST00000290524.4	37	c.56delC	CCDS994.1																																																																																				0.557	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		8	918						8	918	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		10	432						10	432	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del|KCNN3_ENST00000515643.1_5'UTR	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(2059-2064)ctc>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del	p.QL687del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2375_2377	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2060_2062delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		18	907						18	907	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			10	533						10	533	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	9	324						9	324	---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417778	174417778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:174417778delT	ENST00000367685.2	+	1	567	c.529delT	c.(529-531)tttfs	p.F178fs	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	178					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CTTGCCTTCCTTTTTTGGCTG	0.433																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(529-531)ttfs		G protein-coupled receptor 52							205.0	200.0	201.0					1																	174417778		2203	4300	6503	SO:0001589	frameshift_variant	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417778delT	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.529delT	1.37:g.174417778delT	ENSP00000356658:p.Phe178fs					RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	p.F178fs	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN			1	567	+			178					O75654|Q4VBL6|Q6ISM0	Frame_Shift_Del	DEL	ENST00000367685.2	37	c.529delT	CCDS30941.1																																																																																				0.433	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		8	1608						8	1608	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		8	606						8	606	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:202097525_202097527delCTG	ENST00000367282.5	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	436	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1285-1290)gac>ga		G protein-coupled receptor 37 like 1				2,128,4136		0,0,2,9,110,2012						3.1	1.0			46	5,240,8007		0,0,5,10,220,3891	no	codingComplex	GPR37L1	NM_004767.3		0,0,7,19,330,5903	A1A1,A1A2,A1R,A2A2,A2R,RR		2.969,3.0474,2.9957				7,368,12143				SO:0001651	inframe_deletion	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097525_202097527delCTG	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1287_1289delCTG	1.37:g.202097534_202097536delCTG	ENSP00000356251:p.Cys436del						p.DC429del	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1393_1395	+			429			Cys-rich.		B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	ENST00000367282.5	37	c.1287_1289delCTG	CCDS1420.1																																																																																				0.626	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		8	234						8	234	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:204438072delG	ENST00000367187.3	-	3	1415	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)gcfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57.0	65.0	62.0					1																	204438072		2203	4300	6503	SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438072delG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.859delC	1.37:g.204438072delG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	c.859delC	CCDS1446.1																																																																																				0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		7	830						7	830	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215747171	215747171	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:215747171delT	ENST00000259154.4	+	2	420	c.126delT	c.(124-126)tctfs	p.S42fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCCAGATTCTTTTTTTTCCA	0.229																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(124-126)tcfs		potassium channel tetramerization domain containing 3							70.0	77.0	75.0					1																	215747171		2195	4282	6477	SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215747171delT	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.126delT	1.37:g.215747171delT	ENSP00000259154:p.Ser42fs						p.S42fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	2	420	+			42			BTB.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Del	DEL	ENST00000259154.4	37	c.126delT	CCDS1515.1																																																																																				0.229	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		9	599						9	599	---	---	---	---
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-	rs387906578		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)tttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCAAGCTCAAAAAAAATGC	0.562																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	GRCh37	CD065661	AGT	D		c.(1288-1290)ttfs		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						96.0	93.0	94.0					1																	230839055		2203	4300	6503	SO:0001589	frameshift_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230839055delA	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1290delT	1.37:g.230839055delA	ENSP00000355627:p.Phe430fs						p.F430fs	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1504	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	430					Q16358|Q16359|Q96F91	Frame_Shift_Del	DEL	ENST00000366667.4	37	c.1290delT	CCDS1585.1																																																																																				0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		9	506						9	506	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		13	425						13	425	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		11	698						11	698	---	---	---	---
FAM98A	25940	broad.mit.edu	37	2	33813402	33813402	+	Splice_Site	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:33813402delT	ENST00000238823.8	-	4	662	c.522delA	c.(520-522)aaa>aa	p.K174fs	FAM98A_ENST00000403368.1_Splice_Site_p.K174fs|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	174							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.e4+1		family with sequence similarity 98, member A							158.0	159.0	159.0					2																	33813402		2203	4300	6503	SO:0001630	splice_region_variant	25940							g.chr2:33813402delT		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.522+1A>-	2.37:g.33813402delT						FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice|FAM98A_ENST00000441530.2_Intron	p.K174_splice	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			4	591	-	all_hematologic(175;0.115)		175					B2RNA2|Q9Y3Y6	Splice_Site	DEL	ENST00000238823.8	37	c.522_splice	CCDS33179.1																																																																																				0.338	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	Frame_Shift_Del	9	888						9	888	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134.0	134.0	134.0					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	540						7	540	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44200754	44200754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:44200754delT	ENST00000260665.7	-	11	1418	c.1361delA	c.(1360-1362)aatfs	p.N454fs	LRPPRC_ENST00000409659.1_Frame_Shift_Del_p.N454fs|LRPPRC_ENST00000409946.1_Frame_Shift_Del_p.N454fs	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	454					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACCTTGAACATTTTTTTCCTT	0.413																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1360-1362)atfs		leucine-rich pentatricopeptide repeat containing							97.0	98.0	98.0					2																	44200754		2203	4300	6503	SO:0001589	frameshift_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44200754delT	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1361delA	2.37:g.44200754delT	ENSP00000260665:p.Asn454fs					LRPPRC_ENST00000409659.1_Frame_Shift_Del_p.N454fs|LRPPRC_ENST00000409946.1_Frame_Shift_Del_p.N454fs	p.N454fs	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			11	1418	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	454					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Frame_Shift_Del	DEL	ENST00000260665.7	37	c.1361delA	CCDS33189.1																																																																																				0.413	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		7	506						7	506	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1489-1491)agafs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253745_55253746insT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1490dupA	2.37:g.55253754_55253754dupT	ENSP00000337838:p.Ile497fs					RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs	p.R497fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1732_1733	-			497					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Ins	INS	ENST00000337526.6	37	c.1489_1490insA	CCDS42684.1																																																																																				0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			16	656						16	656	---	---	---	---
ST3GAL5	8869	broad.mit.edu	37	2	86075293	86075293	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:86075293delT	ENST00000377332.3	-	4	461	c.353delA	c.(352-354)aagfs	p.K118fs	ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.K95fs|ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.K90fs	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	118					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACGACATTCCTTCTGCAAGAC	0.433																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(352-354)agfs		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							209.0	215.0	213.0					2																	86075293		2203	4300	6503	SO:0001589	frameshift_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86075293delT	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.353delA	2.37:g.86075293delT	ENSP00000366549:p.Lys118fs					ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.K90fs|ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.K95fs	p.K118fs	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			4	461	-			118					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Frame_Shift_Del	DEL	ENST00000377332.3	37	c.353delA	CCDS1986.2																																																																																				0.433	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		7	1897						7	1897	---	---	---	---
DUSP2	1844	broad.mit.edu	37	2	96809973	96809973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:96809973delA	ENST00000288943.4	-	3	735	c.650delT	c.(649-651)ttcfs	p.F217fs	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	217					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTTGTAGCGGAAAAGGCCCTC	0.602																																						ENST00000288943.4																			0				NS(1)|breast(1)|lung(2)|skin(1)	5						c.(649-651)tcfs		dual specificity phosphatase 2							87.0	80.0	83.0					2																	96809973		2203	4300	6503	SO:0001589	frameshift_variant	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96809973delA	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.650delT	2.37:g.96809973delA	ENSP00000288943:p.Phe217fs						p.F217fs	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN			3	735	-		Ovarian(717;0.0228)	217					Q53T45	Frame_Shift_Del	DEL	ENST00000288943.4	37	c.650delT	CCDS2016.1																																																																																				0.602	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		9	556						9	556	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		12	1625						12	1625	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1255-1257)del		AF4/FMR2 family, member 3			,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100218011_100218013delGCT	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del					AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del	p.S419del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			13	1490_1492	-			419			Poly-Ser.		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	ENST00000409236.2	37	c.1255_1257delAGC	CCDS42723.1																																																																																				0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		7	89						7	89	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.E329fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515																																						ENST00000272542.3																			1	Deletion - Frameshift(1)	p.R332fs*14(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(982-987)ccagfs		solute carrier family 20 (phosphate transporter), member 1																																				SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416607_113416608delAG		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.984_985delAG	2.37:g.113416617_113416618delAG	ENSP00000272542:p.Glu329fs					SLC20A1_ENST00000480984.1_3'UTR	p.PE328fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1523_1524	+			328					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.984_985delAG	CCDS2099.1																																																																																				0.515	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		10	425						10	425	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1303-1305)aaafs	p.K435fs	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K435fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.K327fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366																																						ENST00000241416.7																			3	Deletion - Frameshift(3)	p.K437fs*5(3)	large_intestine(2)|ovary(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1300-1305)caaaaafs		activin A receptor, type IIA																																				SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148683685_148683686insA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1310dupA	2.37:g.148683693_148683693dupA	ENSP00000241416:p.Lys435fs					ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs|ACVR2A_ENST00000495775.1_3'UTR	p.QK434fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	10	1938_1939	+			434			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Ins	INS	ENST00000241416.7	37	c.1302_1303insA	CCDS33301.1																																																																																				0.366	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		9	790						9	790	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		11	450						11	450	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1933-1935)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437003_201437004insT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs						p.I645fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2032_2033	+			645					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1934_1935insT	CCDS42796.1																																																																																				0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		12	783						12	783	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97.0	96.0	96.0					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		8	566						8	566	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		12	164						12	164	---	---	---	---
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-	rs368777489		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	PNKD_ENST00000273077.4_5'Flank|PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000420660.1_5'Flank|AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151.0	171.0	164.0					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		7	2149						7	2149	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234433205	234433205	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:234433205delT	ENST00000427112.2	-	14	1846	c.1811delA	c.(1810-1812)gatfs	p.D604fs	USP40_ENST00000450966.1_Frame_Shift_Del_p.D616fs|USP40_ENST00000251722.6_Frame_Shift_Del_p.D604fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	604					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGTCAGTTCATCCCCTAGAAA	0.373																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1810-1812)gtfs		ubiquitin specific peptidase 40							75.0	70.0	72.0					2																	234433205		1857	4135	5992	SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234433205delT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1811delA	2.37:g.234433205delT	ENSP00000387898:p.Asp604fs					USP40_ENST00000427112.2_Frame_Shift_Del_p.D604fs|USP40_ENST00000450966.1_Frame_Shift_Del_p.D616fs	p.D604fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	15	1928	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	604					Q6NX38|Q70EL0	Frame_Shift_Del	DEL	ENST00000427112.2	37	c.1811delA	CCDS46547.1																																																																																				0.373	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		15	175						15	175	---	---	---	---
UGT1A10	54575	broad.mit.edu	37	2	234545526	234545526	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:234545526delT	ENST00000344644.5	+	1	427	c.358delT	c.(358-360)tttfs	p.F121fs	UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	121					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TCTTGACTTATTTTTTTCGCA	0.373																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(358-360)ttfs									103.0	111.0	109.0					2																	234545526		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234545526delT	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.358delT	2.37:g.234545526delT	ENSP00000343838:p.Phe121fs					UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A8_ENST00000373450.4_Intron	p.F121fs	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	427	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Frame_Shift_Del	DEL	ENST00000344644.5	37	c.358delT	CCDS33403.1																																																																																				0.373	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		7	906						7	906	---	---	---	---
LINC00698	285401	broad.mit.edu	37	3	63083094	63083096	+	lincRNA	DEL	CTG	CTG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:63083094_63083096delCTG	ENST00000468072.1	+	0	125					NR_027104.1				long intergenic non-protein coding RNA 698																		TCCGAGCCGTCTGCTGCTGCTGC	0.562																																						ENST00000468072.1																			0																																																			0							g.chr3:63083094_63083096delCTG	BC039502, BC043407		3p14.2	2012-11-23			ENSG00000244342	ENSG00000244342		"""Long non-coding RNAs"""	27720	non-coding RNA	RNA, long non-coding							Standard	NR_027104		Approved		uc003dlo.3		OTTHUMG00000158701		3.37:g.63083103_63083105delCTG								NR_027104.1						0	125	+									RNA	DEL	ENST00000468072.1	37																																																																																						0.562	LINC00698-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351800.1	NR_027104		8	693						8	693	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983477	97983477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:97983477delT	ENST00000383696.2	+	1	390	c.349delT	c.(349-351)tttfs	p.F118fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGGTACAATTTTTTTCCCT	0.393																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(349-351)ttfs		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							110.0	98.0	102.0					3																	97983477		2203	4299	6502	SO:0001589	frameshift_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983477delT	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.349delT	3.37:g.97983477delT	ENSP00000373196:p.Phe118fs					RP11-325B23.2_ENST00000508616.1_lincRNA	p.F118fs	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	390	+			118					Q6IF88	Frame_Shift_Del	DEL	ENST00000383696.2	37	c.349delT	CCDS33800.1																																																																																				0.393	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			7	1021						7	1021	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:99568272_99568273insT	ENST00000354552.3	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aaactafs	p.L750fs	FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.L510fs|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.L326fs|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.L510fs|FILIP1L_ENST00000331335.5_Frame_Shift_Ins_p.L750fs	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	750						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2245-2250)aataaafs		filamin A interacting protein 1-like																																				SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568272_99568273insT		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2248dupA	3.37:g.99568280_99568280dupT	ENSP00000346560:p.Leu750fs					FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs	p.NK749fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2717_2718	-			749					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Ins	INS	ENST00000354552.3	37	c.2247_2248insA	CCDS43117.1																																																																																				0.406	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		7	943						7	943	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			13	1567						13	1567	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	272						9	272	---	---	---	---
PCOLCE2	26577	broad.mit.edu	37	3	142548586	142548586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:142548586delT	ENST00000295992.3	-	6	1119	c.813delA	c.(811-813)aaafs	p.K271fs	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	271					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGTAGGCAGTTTTTTTGGCC	0.383																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(811-813)aafs		procollagen C-endopeptidase enhancer 2							165.0	155.0	158.0					3																	142548586		2203	4300	6503	SO:0001589	frameshift_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142548586delT	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.813delA	3.37:g.142548586delT	ENSP00000295992:p.Lys271fs					PCOLCE2_ENST00000485766.1_Intron	p.K271fs	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			6	1119	-			271					B2RCH9|D3DNG4|Q9BRH3	Frame_Shift_Del	DEL	ENST00000295992.3	37	c.813delA	CCDS3127.1																																																																																				0.383	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		9	885						9	885	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		9	443						9	443	---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149769296	149769296	+	5'Flank	DEL	C	C	-	rs59377959|rs367768558|rs537947799	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:149769296delC	ENST00000497148.1	-	0	0				RP11-167H9.4_ENST00000487840.1_RNA			P35080	PROF2_HUMAN	profilin 2						actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTCCTGGTGTCtttttttttt	0.463																																						ENST00000487840.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:149769296delC	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683		3.37:g.149769296delC	Exception_encountered													0	46	+								B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	RNA	DEL	ENST00000497148.1	37																																																																																						0.463	PFN2-018	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000357104.1	NM_002628		19	485						19	485	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		10	1589						10	1589	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1372-1374)del		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del	p.E465del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1786_1788	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		9	701						9	701	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		10	996						10	996	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	803						7	803	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	61						10	61	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502																																						ENST00000296358.4																			1	Deletion - Frameshift(1)	p.L226fs*1(1)	liver(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(676-681)tfs		otopetrin 1																																				SO:0001589	frameshift_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204225_4204229delTTGAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.676_680delCTCAA	4.37:g.4204225_4204229delTTGAG	ENSP00000296358:p.Leu226fs						p.LN226fs	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	700_704	-			226					A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	c.676_680delCTCAA	CCDS3372.1																																																																																				0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		8	580						8	580	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26417145	26417146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:26417145_26417146insA	ENST00000361572.6	+	4	437_438	c.243_244insA	c.(244-246)aaafs	p.K82fs	RBPJ_ENST00000342320.4_Frame_Shift_Ins_p.K68fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.K47fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.K69fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.K68fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.K82fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.K68fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.K67fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	82					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGATGGAAGAAAAAAAAAGA	0.371																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(199-204)aaaaaafs		recombination signal binding protein for immunoglobulin kappa J region																																				SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26417145_26417146insA	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.252dupA	4.37:g.26417154_26417154dupA	ENSP00000354528:p.Lys82fs					RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs	p.KK67fs			Q06330	SUH_HUMAN			4	377_378	+		Breast(46;0.0503)	81					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Ins	INS	ENST00000361572.6	37	c.201_202insA	CCDS3437.1																																																																																				0.371	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		14	753						14	753	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|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)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																						ENST00000309964.4																			2	Deletion - Frameshift(2)	p.L123fs*1(2)	ovary(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(367-369)tafs		clock circadian regulator							88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336954delA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs					CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		7	618	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	c.368delT	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		19	389						19	389	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(226-228)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554620_71554622delGAG	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del						p.E81del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	425_427	+			81			Glu-rich.		Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.226_228delGAG	CCDS3546.1																																																																																				0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		12	254						12	254	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0.0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			9	394						9	394	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83785675	83785677	+	In_Frame_Del	DEL	TGC	TGC	-	rs140634448		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:83785675_83785677delTGC	ENST00000395310.2	-	11	1454_1456	c.1272_1274delGCA	c.(1270-1275)cagcac>cac	p.Q424del	SEC31A_ENST00000508479.1_In_Frame_Del_p.Q424del|SEC31A_ENST00000500777.2_In_Frame_Del_p.Q424del|SEC31A_ENST00000509142.1_In_Frame_Del_p.Q424del|SEC31A_ENST00000505984.1_In_Frame_Del_p.Q424del|SEC31A_ENST00000348405.4_In_Frame_Del_p.Q424del|SEC31A_ENST00000443462.2_In_Frame_Del_p.Q419del|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_In_Frame_Del_p.Q424del|SEC31A_ENST00000311785.7_In_Frame_Del_p.Q424del|SEC31A_ENST00000432794.1_In_Frame_Del_p.Q424del|SEC31A_ENST00000448323.1_In_Frame_Del_p.Q424del|SEC31A_ENST00000264405.5_In_Frame_Del_p.Q196del|SEC31A_ENST00000355196.2_In_Frame_Del_p.Q424del|SEC31A_ENST00000508502.1_In_Frame_Del_p.Q424del|SEC31A_ENST00000513858.1_In_Frame_Del_p.Q424del|SEC31A_ENST00000326950.5_In_Frame_Del_p.Q424del	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	424	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAACACATGGTGCTGCTGCTGCT	0.448																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1270-1275)cac>ca		SEC31 homolog A (S. cerevisiae)																																				SO:0001651	inframe_deletion	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785675_83785677delTGC	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1272_1274delGCA	4.37:g.83785684_83785686delTGC	ENSP00000378721:p.Gln424del					SEC31A_ENST00000505472.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000505984.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000443462.2_In_Frame_Del_p.QH419del|SEC31A_ENST00000513858.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000395310.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000500777.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000326950.5_In_Frame_Del_p.QH424del|SEC31A_ENST00000348405.4_In_Frame_Del_p.QH424del|SEC31A_ENST00000508502.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000311785.7_In_Frame_Del_p.QH424del|SEC31A_ENST00000355196.2_In_Frame_Del_p.QH424del|SEC31A_ENST00000508479.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000264405.5_In_Frame_Del_p.QH196del|SEC31A_ENST00000509142.1_In_Frame_Del_p.QH424del|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_In_Frame_Del_p.QH424del	p.QH424del			O94979	SC31A_HUMAN			11	1435_1437	-		Hepatocellular(203;0.114)	424			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	In_Frame_Del	DEL	ENST00000395310.2	37	c.1272_1274delGCA	CCDS3596.1																																																																																				0.448	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	395						7	395	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	254						9	254	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	423						9	423	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E|HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E|RP11-798M19.3_ENST00000507803.1_RNA			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		9	578						9	578	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	3	476_478	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		10	929						10	929	---	---	---	---
SDHA	6389	broad.mit.edu	37	5	228334	228335	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:228334_228335insT	ENST00000264932.6	+	6	771_772	c.656_657insT	c.(655-660)tattttfs	p.YF219fs	SDHA_ENST00000510361.1_Frame_Shift_Ins_p.YF171fs|SDHA_ENST00000504309.1_Frame_Shift_Ins_p.YF219fs	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	219					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TTTGTGGAGTATTTTGCCTTGG	0.441									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(655-657)tttfs		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228334_228335insT	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.660dupT	5.37:g.228338_228338dupT	ENSP00000264932:p.Tyr219fs					SDHA_ENST00000504309.1_Frame_Shift_Ins_p.F219fs|SDHA_ENST00000510361.1_Frame_Shift_Ins_p.F171fs	p.F219fs	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	771_772	+			219					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Frame_Shift_Ins	INS	ENST00000264932.6	37	c.656_657insT	CCDS3853.1																																																																																				0.441	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		31	471						31	471	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		10	551						10	551	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37063925	37063927	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:37063925_37063927delGAA	ENST00000282516.8	+	46	8393_8395	c.7894_7896delGAA	c.(7894-7896)gaadel	p.E2636del	NIPBL_ENST00000448238.2_In_Frame_Del_p.E2636del	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2636					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.E2632delE(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGACCCTGATGAAGAAGAAGAAG	0.379																																						ENST00000282516.8																			2	Deletion - In frame(2)	p.E2632delE(2)	ovary(2)	autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7894-7896)del		Nipped-B homolog (Drosophila)																																				SO:0001651	inframe_deletion	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37063925_37063927delGAA	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7894_7896delGAA	5.37:g.37063934_37063936delGAA	ENSP00000282516:p.Glu2636del					NIPBL_ENST00000448238.2_In_Frame_Del_p.E2636del	p.E2636del	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		46	8393_8395	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2636					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	In_Frame_Del	DEL	ENST00000282516.8	37	c.7894_7896delGAA	CCDS3920.1																																																																																				0.379	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	172						7	172	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		14	88						14	88	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(268-270)gfs		IK cytokine, down-regulator of HLA II																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_ENST00000523672.1_3'UTR	p.E90fs	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	407_408	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		9	287						9	287	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A	rs372292910		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366																																						ENST00000194152.1																			1	Deletion - Frameshift(1)	p.K305fs*12(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(904-909)ttaaaafs						6,4244		0,6,2119						3.5	0.7			99	16,8224		0,16,4104	no	frameshift	PCDHB4	NM_018938.2		0,22,6223	A1A1,A1R,RR		0.1942,0.1412,0.1761				22,12468				SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502486_140502487insA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.915dupA	5.37:g.140502495_140502495dupA	ENSP00000194152:p.Lys303fs						p.LK302fs	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	906_907	+			302			Cadherin 3.		Q4V761	Frame_Shift_Ins	INS	ENST00000194152.1	37	c.906_907insA	CCDS4246.1																																																																																				0.366	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		12	1128						12	1128	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145886722	145886723	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:145886722_145886723insA	ENST00000296702.5	+	19	2900_2901	c.2862_2863insA	c.(2863-2865)aaafs	p.K955fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.K934fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	955	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCACTTACCAAAAAAAAGAG	0.376																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2860-2865)acaaaafs		transcription elongation regulator 1																																				SO:0001589	frameshift_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145886722_145886723insA	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2870dupA	5.37:g.145886730_145886730dupA	ENSP00000296702:p.Lys955fs					TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs	p.TK954fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2900_2901	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	954					Q2NKN2|Q59EA1	Frame_Shift_Ins	INS	ENST00000296702.5	37	c.2862_2863insA	CCDS4282.1																																																																																				0.376	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		13	774						13	774	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		11	706						11	706	---	---	---	---
SLC26A2	1836	broad.mit.edu	37	5	149360166	149360168	+	In_Frame_Del	DEL	TTG	TTG	-	rs121908077		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:149360166_149360168delTTG	ENST00000286298.4	+	3	1278_1280	c.1010_1012delTTG	c.(1009-1014)cttgtt>ctt	p.V341del		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	341					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTATTGAACTTGTTGTTGTTGT	0.394																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1009-1014)ctt>c		solute carrier family 26 (anion exchanger), member 2				0,4264		0,0,2132				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		4.7	1.0		dbSNP_132	88	1,8253		0,1,4126	no	coding	SLC26A2	NM_000112.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360166_149360168delTTG	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1010_1012delTTG	5.37:g.149360175_149360177delTTG	ENSP00000286298:p.Val341del						p.LV337del	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1278_1280	+			337					A8K2U3|B2R6J1|Q6N051	In_Frame_Del	DEL	ENST00000286298.4	37	c.1010_1012delTTG	CCDS4300.1																																																																																				0.394	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		7	616						7	616	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Intron	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:172578611delT	ENST00000351486.5	+	3	208				BNIP1_ENST00000231668.9_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(220-222)ttfs		BCL2/adenovirus E1B 19kDa interacting protein 1			,,,	16,4248		4,8,2120	126.0	120.0	122.0		,,,	-3.2	0.0	5		123	29,8225		6,17,4104	no	frameshift,frameshift,intron,intron	BNIP1	NM_013980.2,NM_013979.2,NM_013978.2,NM_001205.2	,,,	10,25,6224	A1A1,A1R,RR		0.3513,0.3752,0.3595	,,,	,,,	172578611	45,12473	2203	4300	6503	SO:0001627	intron_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172578611delT	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2714T>-	5.37:g.172578611delT						BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000351486.5_Intron	p.F76fs	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	324	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	59					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Frame_Shift_Del	DEL	ENST00000351486.5	37	c.220delT	CCDS4384.1																																																																																				0.348	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		17	526						17	526	---	---	---	---
FAM8A1	51439	broad.mit.edu	37	6	17600910	17600910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:17600910delG	ENST00000259963.3	+	1	325	c.270delG	c.(268-270)cagfs	p.Q90fs		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	90						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TGCAGGAGCAGGCGGGCTGCG	0.741																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(268-270)cafs		family with sequence similarity 8, member A1							7.0	9.0	8.0					6																	17600910		1829	3748	5577	SO:0001589	frameshift_variant	51439					integral to membrane		g.chr6:17600910delG	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.270delG	6.37:g.17600910delG	ENSP00000259963:p.Gln90fs						p.Q90fs	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		1	325	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	90					B2R725	Frame_Shift_Del	DEL	ENST00000259963.3	37	c.270delG	CCDS4540.1																																																																																				0.741	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			10	96						10	96	---	---	---	---
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:25921520delT	ENST00000265425.3	-	3	381	c.361delA	c.(361-363)atgfs	p.M121fs	SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000377850.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453																																						ENST00000377850.3																			1	Deletion - Frameshift(1)	p.M121fs*7(1)	ovary(1)	endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(361-363)tgfs		solute carrier family 17, member 2				26,4238		13,0,2119	136.0	124.0	128.0			5.0	1.0	6		129	35,8219		16,3,4108	no	frameshift	SLC17A2	NM_005835.2		29,3,6227	A1A1,A1R,RR		0.424,0.6098,0.4873			25921520	61,12457	2203	4300	6503	SO:0001589	frameshift_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921520delT	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.361delA	6.37:g.25921520delT	ENSP00000265425:p.Met121fs					SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs	p.M121fs			O00624	NPT3_HUMAN			4	885	-			121					A6NK81|A6NLD6|Q5TB84|Q76P85	Frame_Shift_Del	DEL	ENST00000265425.3	37	c.361delA																																																																																					0.453	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			10	431						10	431	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																						ENST00000259951.7																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1177-1182)ttttttfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	p.FF393fs	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN			7	1235_1236	+			0					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		19	1630						19	1630	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		14	506						14	506	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502																																						ENST00000192788.5																			1	Insertion - Frameshift(1)	p.L666fs*15(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1990-1992)ctfs		UHRF1 binding protein 1							170.0	155.0	159.0					6																	34826124		1916	4147	6063	SO:0001589	frameshift_variant	54887							g.chr6:34826124delT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1991delT	6.37:g.34826124delT	ENSP00000192788:p.Leu664fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2162	+			664					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.1991delT	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		11	736						11	736	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		12	701						12	701	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43308089	43308089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:43308089delT	ENST00000361428.2	-	10	3724	c.3647delA	c.(3646-3648)aagfs	p.K1216fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1216	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGCCTTTGCCTTTTTTTCTTT	0.463																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3646-3648)agfs		zinc finger protein 318							176.0	180.0	179.0					6																	43308089		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43308089delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3647delA	6.37:g.43308089delT	ENSP00000354964:p.Lys1216fs					ZNF318_ENST00000318149.3_Intron	p.K1216fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	3724	-			1216			Lys-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.3647delA	CCDS4895.2																																																																																				0.463	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	1618						7	1618	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		11	2256						11	2256	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		14	511						14	511	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		12	1011						12	1011	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(16-21)ttttttfs		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350671_146350672insT	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs					GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs	p.FF6fs			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	488_489	+		Ovarian(120;0.0387)	6					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.18_19insT	CCDS5209.1																																																																																				0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		8	1043						8	1043	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		11	631						11	631	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23775341	23775341	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:23775341delA	ENST00000355870.3	+	7	787	c.668delA	c.(667-669)gaafs	p.E223fs	STK31_ENST00000354639.3_Frame_Shift_Del_p.E200fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	223						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E223V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCTGTGAGGAAAAAAAATTG	0.473																																						ENST00000354639.3																			1	Substitution - Missense(1)	p.E223V(1)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(598-600)gafs		serine/threonine kinase 31			,,	10,4254		5,0,2127	102.0	100.0	101.0		,,	4.3	1.0	7		102	11,8243		5,1,4121	no	frameshift,frameshift,frameshift	STK31	NM_032944.2,NM_031414.3,NM_001122833.1	,,	10,1,6248	A1A1,A1R,RR		0.1333,0.2345,0.1678	,,	,,	23775341	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775341delA	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.668delA	7.37:g.23775341delA	ENSP00000348132:p.Glu223fs					STK31_ENST00000355870.3_Frame_Shift_Del_p.E223fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs	p.E200fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			7	1063	+			223					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Frame_Shift_Del	DEL	ENST00000355870.3	37	c.599delA	CCDS5386.1																																																																																				0.473	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		7	496						7	496	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27222461	27222462	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:27222461_27222462insT	ENST00000006015.3	-	2	966_967	c.895_896insA	c.(895-897)attfs	p.I299fs	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000520395.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCTGTTAATTTTTTTTTCC	0.446			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(895-897)taafs		homeobox A11																																				SO:0001589	frameshift_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222461_27222462insT		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.896dupA	7.37:g.27222470_27222470dupT	ENSP00000006015:p.Ile299fs						p.*299fs	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	966_967	-			299					A4D190	Frame_Shift_Ins	INS	ENST00000006015.3	37	c.895_896insA	CCDS5411.1																																																																																				0.446	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			8	673						8	673	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:48318519delA	ENST00000435803.1	+	18	7752	c.7728delA	c.(7726-7728)ttafs	p.L2576fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313																																						ENST00000435803.1																			5	Substitution - Missense(5)	p.L2576F(3)|p.L2521F(2)	prostate(5)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7726-7728)ttfs		ATP-binding cassette, sub-family A (ABC1), member 13							54.0	58.0	57.0					7																	48318519		1794	4039	5833	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318519delA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7728delA	7.37:g.48318519delA	ENSP00000411096:p.Leu2576fs						p.L2576fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7752	+			2576					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.7728delA	CCDS47584.1																																																																																				0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	571						10	571	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		10	96						10	96	---	---	---	---
STYXL1	51657	broad.mit.edu	37	7	75651194	75651196	+	In_Frame_Del	DEL	ATC	ATC	-	rs374157398		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:75651194_75651196delATC	ENST00000248600.1	-	4	622_624	c.280_282delGAT	c.(280-282)gatdel	p.D94del	STYXL1_ENST00000451157.1_In_Frame_Del_p.D94del|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000359697.3_In_Frame_Del_p.D94del|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000431581.1_In_Frame_Del_p.D94del|STYXL1_ENST00000360591.3_In_Frame_Del_p.D94del	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	94	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CAGAGTCTGAATCATCATCATCA	0.433																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(280-282)del		serine/threonine/tyrosine interacting-like 1																																				SO:0001651	inframe_deletion	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75651194_75651196delATC	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.280_282delGAT	7.37:g.75651203_75651205delATC	ENSP00000248600:p.Asp94del					STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000360591.3_In_Frame_Del_p.D94del|STYXL1_ENST00000359697.3_In_Frame_Del_p.D94del|STYXL1_ENST00000431581.1_In_Frame_Del_p.D94del|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000248600.1_In_Frame_Del_p.D94del	p.D94del			Q9Y6J8	STYL1_HUMAN			4	449_451	-			94			Rhodanese.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	In_Frame_Del	DEL	ENST00000248600.1	37	c.280_282delGAT	CCDS5580.1																																																																																				0.433	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		9	1794						9	1794	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1108-1110)ttfs		peroxisomal biogenesis factor 1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron	p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1203	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		15	973						15	973	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-	rs373297831		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)cctccc>ccc	p.291_292PP>P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	291	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-876)ccc>cc		Wiskott-Aldrich syndrome-like				46,4176		1,44,2066						-10.8	0.0			50	62,8114		0,62,4026	no	coding	WASL	NM_003941.2		1,106,6092	A1A1,A1R,RR		0.7583,1.0895,0.8711				108,12290				SO:0001651	inframe_deletion	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332873_123332875delGGA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.873_875delTCC	7.37:g.123332882_123332884delGGA	ENSP00000223023:p.Pro294del						p.PP293del	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1205_1207	-			293			Pro-rich.		A1JUI9|Q7Z746	In_Frame_Del	DEL	ENST00000223023.4	37	c.873_875delTCC	CCDS34743.1																																																																																				0.567	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		9	578						9	578	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-	rs368401262		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		TAGTCATcatacacacacacac	0.441																																						ENST00000390359.3																			0																	1150,504,192,73,32,19,1642		93,271,69,34,0,6,584,12,24,19,0,2,164,6,1,0,1,85,0,0,0,19,5,0,22,2,6,381						-3.9	0.0		dbSNP_134	72	454,34,630,2,192,56,6534		14,14,43,0,0,6,363,1,6,0,0,0,12,12,1,0,4,552,0,0,0,1,3,0,186,1,44,2688	no	intergenic				107,285,112,34,0,12,947,13,30,19,0,2,176,18,2,0,5,637,0,0,0,20,8,0,208,3,50,3069	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		17.3121,54.5404,28.9908				1604,538,822,75,224,75,8176						0							g.chr7:142099805_142099806delAC	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099815_142099816delAC														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.441	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		17	372						17	372	---	---	---	---
TRBV7-6	28592	broad.mit.edu	37	7	142139683	142139684	+	RNA	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:142139683_142139684insA	ENST00000390374.3	-	0	94									T cell receptor beta variable 7-6																		cctacacacaGAAAAAAAAATG	0.49																																						ENST00000390374.3																			0																	13,3677		1,11,1833						-3.2	0.0			105	7,7891		2,3,3944	no	intergenic				3,14,5777	A1A1,A1R,RR		0.0886,0.3523,0.1726				20,11568						0							g.chr7:142139683_142139684insA	L36092		7q34	2012-02-07			ENSG00000211727	ENSG00000211727		"""T cell receptors / TRB locus"""	12240	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV76, TCRBV6S3A1N1T, TCRBV7S6			OTTHUMG00000158882		7.37:g.142139692_142139692dupA														0	94	-									RNA	INS	ENST00000390374.3	37																																																																																						0.490	TRBV7-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352490.2	NG_001333		11	422						11	422	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		10	125						10	125	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	RNA	DEL	A	A	-	rs60594151	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:149515189delA	ENST00000378016.2	+	0	11577							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.667													A|AA|A|insertion	1839	0.367212	0.4402	0.3473	5008	,	,		16407	0.4206		0.2942	False		,,,				2504	0.3027					ENST00000378016.2																			0													SCO-spondin				1497,2307		384,729,789	5.0	7.0	6.0			1.8	0.2	7	dbSNP_132	8	2537,5339		482,1573,1883	no	frameshift	SSPO	NM_198455.2		866,2302,2672	A1A1,A1R,RR		32.2118,39.3533,34.5377			149515189	4034,7646	1638	3723	5361			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515189delA	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515189delA										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11577	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				28	20						28	20	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		9	538						9	538	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134.0	143.0	140.0					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		16	1404						16	1404	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	2166						8	2166	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61766990	61766991	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr8:61766990_61766991insA	ENST00000423902.2	+	32	7323_7324	c.6844_6845insA	c.(6844-6846)gaafs	p.E2282fs	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2282					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGCTAGAGATGAAACCCGAGAT	0.45																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(6844-6846)aacfs		chromodomain helicase DNA binding protein 7																																				SO:0001589	frameshift_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61766990_61766991insA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6847dupA	8.37:g.61766993_61766993dupA	ENSP00000392028:p.Glu2282fs					CHD7_ENST00000524602.1_Intron	p.N2282fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		32	7323_7324	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2282					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Ins	INS	ENST00000423902.2	37	c.6844_6845insA	CCDS47865.1																																																																																				0.450	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		19	308						19	308	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aaafs	p.K404fs	RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1210-1212)aafs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							96.0	103.0	101.0					8																	92998419		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998419delT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1212delA	8.37:g.92998419delT	ENSP00000428543:p.Lys404fs					RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1666	-			404					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.1212delA	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		9	836						9	836	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-	rs548441545|rs563445319	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_ENST00000378776.4_In_Frame_Del_p.50_51EE>E|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.50_51EE>E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458														16	0.00319489	0.0045	0.0014	5008	,	,		22458	0.0		0.001	False		,,,				2504	0.0082					ENST00000342697.4																			1	Substitution - coding silent(1)	p.E50E(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(148-153)gag>ga		tumor protein p53 inducible nuclear protein 1			,	50,2,4210		0,0,50,0,2,2079					,	-3.8	0.0			119	68,3,8183		0,0,68,0,3,4056	no	codingComplex,codingComplex	TP53INP1	NM_033285.3,NM_001135733.1	,	0,0,118,0,5,6135	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8602,1.2201,0.9827	,	,		118,5,12393				SO:0001651	inframe_deletion	0				apoptosis	PML body		g.chr8:95952409_95952411delTCT	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150_152delAGA	8.37:g.95952418_95952420delTCT	ENSP00000344215:p.Glu52del					NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del	p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	557_559	-	Breast(36;8.75e-07)		50			Glu-rich.		B2RCE5|Q969R9	In_Frame_Del	DEL	ENST00000342697.4	37	c.150_152delAGA	CCDS6265.1																																																																																				0.458	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			10	336						10	336	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.K222fs|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.K209fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(760-762)agafs		poly(A) binding protein, cytoplasmic 1																																				SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101724994_101724995insA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.761_762insT	8.37:g.101724994_101724995insA	ENSP00000313007:p.Lys254fs					PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs	p.R254fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		6	1889_1890	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		254			CSDE1-binding.|RRM 3.		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	c.761_762insT	CCDS6289.1																																																																																				0.371	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		14	455						14	455	---	---	---	---
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:2837296delT	ENST00000397885.2	-	3	394	c.188delA	c.(187-189)aagfs	p.K63fs		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(187-189)agfs		KIAA0020							259.0	237.0	244.0					9																	2837296		1837	4098	5935	SO:0001589	frameshift_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837296delT	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188delA	9.37:g.2837296delT	ENSP00000380982:p.Lys63fs						p.K63fs	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	3	394	-			63					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Frame_Shift_Del	DEL	ENST00000397885.2	37	c.188delA	CCDS6448.2																																																																																				0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		9	1499						9	1499	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974764	21974784	+	In_Frame_Del	DEL	GGCCGCGGCCGTGGCCAGCCA	GGCCGCGGCCGTGGCCAGCCA	-	rs587782206|rs560518923|rs138677674		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:21974764_21974784delGGCCGCGGCCGTGGCCAGCCA	ENST00000304494.5	-	1	313_333	c.43_63delTGGCTGGCCACGGCCGCGGCC	c.(43-63)tggctggccacggccgcggccdel	p.WLATAAA15del	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.WLATAAA15del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.WLATAAA15del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.WLATAAA15del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.W15*(7)|p.L16fs*9(4)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.T18P(2)|p.A21D(2)|p.L16P(2)|p.L16_A17insAT(1)|p.W15L(1)|p.R22fs*14(1)|p.S12fs*20(1)|p.A20E(1)|p.S7_A19del(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.T18M(1)|p.A20fs*26(1)|p.A20_A21del(1)|p.A17fs*5(1)|p.A20S(1)|p.A17T(1)|p.L16R(1)|p.A20fs*6(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCGACCCCGGGCCGCGGCCGTGGCCAGCCAGTCAGCCGAA	0.747		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1382	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(17)|Deletion - Frameshift(9)|Substitution - Nonsense(7)|Insertion - In frame(5)|Deletion - In frame(2)|Substitution - coding silent(2)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.W15*(7)|p.L16fs*9(4)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.T18P(2)|p.A21D(2)|p.L16P(2)|p.L16_A17insAT(1)|p.W15L(1)|p.R22fs*14(1)|p.S12fs*20(1)|p.A20E(1)|p.S7_A19del(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.T18M(1)|p.A20fs*26(1)|p.A20_A21del(1)|p.A17fs*5(1)|p.A20S(1)|p.A17T(1)|p.L16R(1)|p.A20fs*6(1)	haematopoietic_and_lymphoid_tissue(280)|skin(172)|central_nervous_system(166)|lung(149)|urinary_tract(90)|bone(73)|soft_tissue(58)|upper_aerodigestive_tract(54)|oesophagus(53)|pleura(52)|pancreas(37)|ovary(35)|kidney(31)|breast(30)|biliary_tract(15)|thyroid(14)|NS(12)|stomach(12)|liver(11)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|prostate(4)|thymus(4)|vulva(2)|endometrium(2)|adrenal_gland(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD951646|CI983050|CM023346|CM960269|CM980321|CM994496	CDKN2A	D|I|M	rs138677674	c.(43-63)del		cyclin-dependent kinase inhibitor 2A																																				SO:0001651	inframe_deletion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974764_21974784delGGCCGCGGCCGTGGCCAGCCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.43_63delTGGCTGGCCACGGCCGCGGCC	9.37:g.21974764_21974784delGGCCGCGGCCGTGGCCAGCCA	ENSP00000307101:p.Trp15_Ala21del	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.WLATAAA15del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.WLATAAA15del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.WLATAAA15del	p.WLATAAA15del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	313_333	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	15					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Del	DEL	ENST00000304494.5	37	c.43_63delTGGCTGGCCACGGCCGCGGCC	CCDS6510.1																																																																																				0.747	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		74	411						74	411	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906596	35906601	+	In_Frame_Del	DEL	CCACCC	CCACCC	-	rs565823201|rs112212538		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:35906596_35906601delCCACCC	ENST00000354323.2	+	1	408_413	c.312_317delCCACCC	c.(310-318)caccacccc>cac	p.HP105del	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						accaccaccaccacccccaccgccac	0.67																																						ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(310-318)cac>ca		histidine rich carboxyl terminus 1																																				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906596_35906601delCCACCC		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.312_317delCCACCC	9.37:g.35906596_35906601delCCACCC	ENSP00000346283:p.His105_Pro106del						p.HHP104del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	408_413	+			104			His-rich.		B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.312_317delCCACCC	CCDS35012.1																																																																																				0.670	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		13	72						13	72	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37357249	37357250	+	Frame_Shift_Ins	INS	-	-	A	rs1051465		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:37357249_37357250insA	ENST00000336755.5	+	9	1722_1723	c.1616_1617insA	c.(1615-1620)agaaaafs	p.RK539fs	ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.RK249fs|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATTAAGCAGAGAAAAAAAAAGT	0.411																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(1615-1617)aaafs		zinc finger, CCHC domain containing 7																																				SO:0001589	frameshift_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37357249_37357250insA	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1625dupA	9.37:g.37357258_37357258dupA	ENSP00000337839:p.Arg539fs					ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.K249fs|ZCCHC7_ENST00000461038.1_3'UTR	p.K539fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	9	1722_1723	+			539		R -> K (in dbSNP:rs1051465).			B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Ins	INS	ENST00000336755.5	37	c.1616_1617insA	CCDS6608.2																																																																																				0.411	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		7	382						7	382	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95599088	95599089	+	RNA	DEL	CA	CA	-	rs544950203|rs372688534	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:95599088_95599089delCA	ENST00000473204.1	+	0	1169_1170							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TTCACGGGCGCACACACACACA	0.421																																						ENST00000473204.1																			0																																																			0							g.chr9:95599088_95599089delCA	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599098_95599099delCA														0	1169_1170	+								A8K853|Q17RD3	RNA	DEL	ENST00000473204.1	37																																																																																						0.421	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		9	405						9	405	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135203911	135203913	+	In_Frame_Del	DEL	TCA	TCA	-	rs573705270	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:135203911_135203913delTCA	ENST00000224140.5	-	10	3254_3256	c.3072_3074delTGA	c.(3070-3075)gatgaa>gaa	p.D1024del	SETX_ENST00000372169.2_In_Frame_Del_p.D1024del|SETX_ENST00000393220.1_In_Frame_Del_p.D1024del	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1024					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAGGATTCTTTCATCATCATCAT	0.369														6	0.00119808	0.0	0.0	5008	,	,		21443	0.0		0.0	False		,,,				2504	0.0061					ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3070-3075)gaa>ga		senataxin				2,2,4254		0,0,2,0,2,2125						-1.7	0.0			113	3,9,8238		0,0,3,0,9,4113	no	codingComplex	SETX	NM_015046.5		0,0,5,0,11,6238	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1455,0.0939,0.1279				5,11,12492				SO:0001651	inframe_deletion	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203911_135203913delTCA	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3072_3074delTGA	9.37:g.135203920_135203922delTCA	ENSP00000224140:p.Asp1024del					SETX_ENST00000393220.1_In_Frame_Del_p.DE1024del|SETX_ENST00000224140.5_In_Frame_Del_p.DE1024del	p.DE1024del			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3254_3256	-		Myeloproliferative disorder(178;0.204)	1024					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	In_Frame_Del	DEL	ENST00000224140.5	37	c.3072_3074delTGA	CCDS6947.1																																																																																				0.369	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		7	840						7	840	---	---	---	---
SURF6	6838	broad.mit.edu	37	9	136199557	136199557	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:136199557delT	ENST00000372022.4	-	4	698	c.433delA	c.(433-435)aggfs	p.R148fs	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	148					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTCCGCCGCCTTTTCTCCAAG	0.632																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(433-435)ggfs		surfeit 6							72.0	80.0	77.0					9																	136199557		2203	4300	6503	SO:0001589	frameshift_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136199557delT	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.433delA	9.37:g.136199557delT	ENSP00000361092:p.Arg148fs					SURF6_ENST00000468290.1_5'UTR	p.R148fs	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	4	698	-			148					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Frame_Shift_Del	DEL	ENST00000372022.4	37	c.433delA	CCDS6962.1																																																																																				0.632	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		8	1228						8	1228	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-	rs368995487		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		8	184						8	184	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:61828745_61828747delGTG	ENST00000280772.2	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11890-11895)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828745_61828747delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11892_11894delCAC	10.37:g.61828754_61828756delGTG	ENSP00000280772:p.Thr3965del					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.TT3964del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12083_12085	-			3964			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11892_11894delCAC	CCDS7258.1																																																																																				0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	848						7	848	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:64952699delT	ENST00000399262.2	-	16	6293	c.6075delA	c.(6073-6075)aaa>aa	p.K2025fs	JMJD1C_ENST00000402544.1_Splice_Site_p.K1788fs|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.e16+1		jumonji domain containing 1C							153.0	141.0	145.0					10																	64952699		1873	4104	5977	SO:0001630	splice_region_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952699delT	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6076+1A>-	10.37:g.64952699delT						JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000399251.1_3'UTR	p.K2025_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6293	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2025					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	DEL	ENST00000399262.2	37	c.6076_splice	CCDS41532.1																																																																																				0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Frame_Shift_Del	8	690						8	690	---	---	---	---
DNAJC12	56521	broad.mit.edu	37	10	69565430	69565433	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:69565430_69565433delTCTT	ENST00000225171.2	-	4	562_565	c.410_413delAAGA	c.(409-414)aaagagfs	p.KE137fs	DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs|RNU6-1250P_ENST00000391218.1_RNA	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	137										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						AGCCAGCTCCTCTTTCTTTCTTTC	0.446																																						ENST00000225171.2																			0				breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						c.(409-414)agfs		DnaJ (Hsp40) homolog, subfamily C, member 12																																				SO:0001589	frameshift_variant	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69565430_69565433delTCTT	AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"""Heat shock proteins / DNAJ (HSP40)"""	28908	protein-coding gene	gene with protein product	"""J domain protein 1"""	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.410_413delAAGA	10.37:g.69565438_69565441delTCTT	ENSP00000225171:p.Lys137fs					DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs	p.KE137fs	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN			4	562_565	-			137					Q5JVQ1|Q9UKB2	Frame_Shift_Del	DEL	ENST00000225171.2	37	c.410_413delAAGA	CCDS7271.1																																																																																				0.446	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		7	1680						7	1680	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(961-963)gfs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509285_70509286delGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs					CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	p.E321fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			10	1080_1081	+			321			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	c.961_962delGA	CCDS7282.1																																																																																				0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		11	284						11	284	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	1541						8	1541	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		12	857						12	857	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aaafs	p.K303fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTCTGGGACCAAAAAAGATGT	0.403																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(904-906)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						195.0	213.0	207.0					10																	101559000		2203	4300	6503	SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559000delA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.904delA	10.37:g.101559000delA	ENSP00000359478:p.Lys303fs						p.K303fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1017	+		Colorectal(252;0.234)	303					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	c.904delA	CCDS7484.1																																																																																				0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		8	1636						8	1636	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129913974	129913974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:129913974delT	ENST00000368654.3	-	7	1073	c.698delA	c.(697-699)aatfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGAGATTCATTTTTTTTGCT	0.343																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(697-699)atfs		marker of proliferation Ki-67							77.0	75.0	76.0					10																	129913974		2203	4300	6503	SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913974delT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.698delA	10.37:g.129913974delT	ENSP00000357643:p.Asn233fs					MKI67_ENST00000368653.3_Intron	p.N233fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1073	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	233					Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.698delA	CCDS7659.1																																																																																				0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	362						8	362	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			11	750						11	750	---	---	---	---
RRP8	23378	broad.mit.edu	37	11	6623336	6623338	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:6623336_6623338delTCC	ENST00000254605.6	-	2	324_326	c.207_209delGGA	c.(205-210)gaggaa>gaa	p.69_70EE>E	ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	69	Poly-Glu.				cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTTCTTCCTTTCCTCCTCCTCCT	0.532																																						ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(205-210)gaa>ga		ribosomal RNA processing 8, methyltransferase, homolog (yeast)																																				SO:0001651	inframe_deletion	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6623336_6623338delTCC	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.207_209delGGA	11.37:g.6623345_6623347delTCC	ENSP00000254605:p.Glu70del					RRP8_ENST00000534343.1_Intron	p.EE69del	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			2	324_326	-			69			Poly-Glu.		Q7KZ78|Q9BVM6	In_Frame_Del	DEL	ENST00000254605.6	37	c.207_209delGGA	CCDS31411.1																																																																																				0.532	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		8	513						8	513	---	---	---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)ttcdel	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(310-312)del		olfactory receptor, family 10, subfamily A, member 5																																				SO:0001651	inframe_deletion	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867223_6867225delTTC	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.310_312delTTC	11.37:g.6867232_6867234delTTC	ENSP00000299454:p.Phe108del					OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del	p.F108del			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	341_343	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	108					O95223|Q52M66|Q96R21|Q96R22	In_Frame_Del	DEL	ENST00000299454.4	37	c.310_312delTTC	CCDS7773.1																																																																																				0.517	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		10	836						10	836	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		49	54						49	54	---	---	---	---
MUC15	143662	broad.mit.edu	37	11	26587427	26587427	+	5'UTR	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:26587427delT	ENST00000455601.2	-	0	97				ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|MUC15_ENST00000436318.2_Frame_Shift_Del_p.K20fs|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGTATTGGTTTTTTTTTAA	0.289																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(58-60)aafs		mucin 15, cell surface associated							30.0	31.0	30.0					11																	26587427		2174	4267	6441	SO:0001623	5_prime_UTR_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26587427delT	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.-22A>-	11.37:g.26587427delT						ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000525139.1_Intron	p.K20fs			Q8N387	MUC15_HUMAN			2	193	-			0					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Frame_Shift_Del	DEL	ENST00000455601.2	37	c.60delA	CCDS7859.1																																																																																				0.289	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		9	276						9	276	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34910341	34910341	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:34910341delT	ENST00000395787.3	-	4	497	c.283delA	c.(283-285)agcfs	p.S95fs	APIP_ENST00000278359.5_Frame_Shift_Del_p.S112fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			GTACACTGGCTTTTTTTTAGC	0.343																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(283-285)gcfs		APAF1 interacting protein							131.0	124.0	127.0					11																	34910341		2201	4297	6498	SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34910341delT	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.283delA	11.37:g.34910341delT	ENSP00000379133:p.Ser95fs					APIP_ENST00000278359.5_Frame_Shift_Del_p.S112fs|APIP_ENST00000527830.1_5'UTR	p.S95fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		4	497	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	95						Frame_Shift_Del	DEL	ENST00000395787.3	37	c.283delA	CCDS7895.1																																																																																				0.343	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		9	440						9	440	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aaafs	p.K292fs	CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(874-876)aafs		cytoskeleton associated protein 5							163.0	173.0	169.0					11																	46829683		2201	4299	6500	SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46829683delT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.876delA	11.37:g.46829683delT	ENSP00000432768:p.Lys292fs					CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs	p.K292fs			Q14008	CKAP5_HUMAN			8	922	-			292					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Del	DEL	ENST00000529230.1	37	c.876delA	CCDS31477.1																																																																																				0.363	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		12	1466						12	1466	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																						ENST00000343597.3																			3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)	kidney(2)|ovary(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(805-807)tcfs		family with sequence similarity 111, member B																																				SO:0001589	frameshift_variant	374393						catalytic activity	g.chr11:58892377delA	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs					FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs	p.S269fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	998	+			269					B4E2G2|Q6P661	Frame_Shift_Del	DEL	ENST00000343597.3	37	c.807delA	CCDS7972.1																																																																																				0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		19	350						19	350	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61539013	61539013	+	Frame_Shift_Del	DEL	C	C	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:61539013delC	ENST00000278836.5	+	6	878	c.782delC	c.(781-783)tccfs	p.S261fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_5'Flank|MYRF_ENST00000265460.5_Frame_Shift_Del_p.S252fs	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	261	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S255fs*74(1)									CACTCTGAATCCCCCCCCAGC	0.637																																						ENST00000278836.5																			1	Insertion - Frameshift(1)	p.S255fs*74(1)	haematopoietic_and_lymphoid_tissue(1)								c.(781-783)tcfs		myelin regulatory factor							75.0	84.0	81.0					11																	61539013		2202	4299	6501	SO:0001589	frameshift_variant	745							g.chr11:61539013delC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.782delC	11.37:g.61539013delC	ENSP00000278836:p.Ser261fs					TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.S252fs	p.S261fs	NM_001127392.1	NP_001120864.1					6	878	+								O43582|Q9P1Q6	Frame_Shift_Del	DEL	ENST00000278836.5	37	c.782delC	CCDS44622.1																																																																																				0.637	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		7	870						7	870	---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-	rs149062181		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616																																						ENST00000527881.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(13-15)del		tsukushi, small leucine rich proteoglycan																																				SO:0001651	inframe_deletion	25987					extracellular region		g.chr11:76506673_76506675delCTG	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.13_15delCTG	11.37:g.76506682_76506684delCTG	ENSP00000434847:p.Leu9del					TSKU_ENST00000333090.4_In_Frame_Del_p.L9del	p.L9del			Q8WUA8	TSK_HUMAN			2	1039_1041	+	Ovarian(111;0.112)		9					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	In_Frame_Del	DEL	ENST00000527881.1	37	c.13_15delCTG	CCDS8246.1																																																																																				0.616	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		13	423						13	423	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85437269	85437269	+	Intron	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:85437269delT	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000359152.5_Frame_Shift_Del_p.K601fs|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGCCATAACTTTTTTTGGGC	0.373																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1801-1803)aafs		synaptotagmin-like 2							185.0	180.0	182.0					11																	85437269		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85437269delT	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1669A>-	11.37:g.85437269delT						SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000389960.4_Intron	p.K601fs	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	1802	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	113			Ser-rich.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Del	DEL	ENST00000528231.1	37	c.1803delA	CCDS53688.1																																																																																				0.373	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		8	833						8	833	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	13	852						13	852	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89407177	89407177	+	RNA	DEL	C	C	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTTTTTTCCCCAATCTGG	0.303																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89407177delC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89407177delC										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.303	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		7	215						7	215	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94704199	94704199	+	5'Flank	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:94704199delT	ENST00000335080.5	+	0	0				CWC15_ENST00000545018.1_5'UTR|KDM4D_ENST00000536741.1_5'Flank|CWC15_ENST00000279839.6_Frame_Shift_Del_p.K92fs	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TAACCGTGGCTTTTTTGACAC	0.373																																						ENST00000279839.6																			0											c.(274-276)agfs		CWC15 spliceosome-associated protein homolog (S. cerevisiae)							180.0	177.0	178.0					11																	94704199		1861	4089	5950	SO:0001631	upstream_gene_variant	51503				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding	g.chr11:94704199delT	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94704199delT	Exception_encountered					CWC15_ENST00000545018.1_5'UTR	p.K92fs	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN			4	397	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	92					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Frame_Shift_Del	DEL	ENST00000335080.5	37	c.275delA	CCDS8302.1																																																																																				0.373	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		7	999						7	999	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	727_728	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		11	60						11	60	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		10	564						10	564	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	10	901						10	901	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-	rs147951163	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)ccgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1447-1449)cgfs		B-cell CLL/lymphoma 9-like				23,4115		3,17,2049	50.0	62.0	58.0			-2.9	0.5	11		59	32,8100		3,26,4037	no	frameshift	BCL9L	NM_182557.2		6,43,6086	A1A1,A1R,RR		0.3935,0.5558,0.4482			118773004	55,12215	2158	4253	6411	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004delG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1448delC	11.37:g.118773004delG	ENSP00000335320:p.Pro483fs					BCL9L_ENST00000526143.1_5'UTR	p.P483fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2412	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1448delC	CCDS8403.1																																																																																				0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		8	1065						8	1065	---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-	rs372118289		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	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)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.640	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		15	279						15	279	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138.0	135.0	136.0					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		8	666						8	666	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		10	770						10	770	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239.0	258.0	252.0			2.0	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		8	1369						8	1369	---	---	---	---
CBX5	23468	broad.mit.edu	37	12	54645832	54645832	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:54645832delT	ENST00000439541.2	-	3	442	c.317delA	c.(316-318)aagfs	p.K106fs	CBX5_ENST00000209875.4_Frame_Shift_Del_p.K106fs|CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	106					blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TACCTCTCTCTTTTTTTTAGA	0.323																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(316-318)agfs		chromobox homolog 5							142.0	148.0	146.0					12																	54645832		2203	4300	6503	SO:0001589	frameshift_variant	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54645832delT	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.317delA	12.37:g.54645832delT	ENSP00000401009:p.Lys106fs					CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs|CBX5_ENST00000439541.2_Frame_Shift_Del_p.K106fs	p.K106fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			3	453	-			106					B2R8T9	Frame_Shift_Del	DEL	ENST00000439541.2	37	c.317delA	CCDS8875.1																																																																																				0.323	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		8	1159						8	1159	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			8	1362						8	1362	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3001-3003)del		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)																																				SO:0001651	inframe_deletion	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120595737_120595739delCTC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3001_3003delGAG	12.37:g.120595746_120595748delCTC	ENSP00000300648:p.Glu1001del						p.E1001del	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			26	3013_3015	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1001					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	In_Frame_Del	DEL	ENST00000300648.6	37	c.3001_3003delGAG	CCDS41847.1																																																																																				0.631	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			12	339						12	339	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000421670.3_De_novo_Start_InFrame	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			8	259						8	259	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		21	316						21	316	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25517701	25517702	+	RNA	INS	-	-	T	rs201803334	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr13:25517701_25517702insT	ENST00000429698.1	-	0	374							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		ACCATTTGCTATTTTTTTTTCT	0.426													|||unknown(LONG_INSERTION)	223	0.0445288	0.0832	0.0216	5008	,	,		22059	0.0575		0.0159	False		,,,				2504	0.0245					ENST00000429698.1																			0																																																			0							g.chr13:25517701_25517702insT			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25517710_25517710dupT														0	374	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.426	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			7	465						7	465	---	---	---	---
HMGB1	3146	broad.mit.edu	37	13	31036851	31036852	+	Splice_Site	INS	-	-	A	rs551442918		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr13:31036851_31036852insA	ENST00000405805.1	-	4	1237		c.e4-2		HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site|HMGB1_ENST00000399494.1_Splice_Site|HMGB1_ENST00000341423.5_Splice_Site|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		AAGGCCGAACTAAAAAAAAAAT	0.376																																						ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.e4-2		high mobility group box 1																																				SO:0001630	splice_region_variant	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31036851_31036852insA	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.297-2->T	13.37:g.31036861_31036861dupA						HMGB1_ENST00000341423.5_Splice_Site|HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000399494.1_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site				P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	4	1237	-		Lung SC(185;0.0257)						A5D8W9|Q14321|Q5T7C3|Q6IBE1	Splice_Site	INS	ENST00000405805.1	37		CCDS9335.1																																																																																				0.376	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128	Intron	10	345						10	345	---	---	---	---
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-	rs369428918		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TCTGGCCTGAGTGTGTGTGTGT	0.46																																						ENST00000428783.1																			0																																																			0							g.chr13:32527507_32527508delGT			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527517_32527518delGT														0	1207_1208	+								Q08AR3	RNA	DEL	ENST00000428783.1	37																																																																																						0.460	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		15	341						15	341	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973|rs541782956	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)caacag>cag	p.506_507QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.506_507QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	506	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502														87	0.0173722	0.0598	0.0086	5008	,	,		24285	0.0		0.0	False		,,,				2504	0.002					ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1516-1521)cag>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148691_45148693delTGT	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1518_1520delACA	13.37:g.45148700_45148702delTGT	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2008_2010	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	508			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1518_1520delACA	CCDS31966.1																																																																																				0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	728						7	728	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		21	677						21	677	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		7	797						7	797	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			14	395						14	395	---	---	---	---
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:35592700delT	ENST00000557565.1	+	2	630	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_ENST00000605870.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000603588.1_Intron|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	83					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(247-249)cafs		KIAA0391							49.0	48.0	48.0					14																	35592700		2203	4300	6503	SO:0001589	frameshift_variant	9692				tRNA processing	mitochondrion		g.chr14:35592700delT	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.249delT	14.37:g.35592700delT	ENSP00000454657:p.His83fs					KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron	p.H83fs			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	630	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		83					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Frame_Shift_Del	DEL	ENST00000557565.1	37	c.249delT	CCDS32063.1																																																																																				0.423	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		15	290						15	290	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)agtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2068-2070)gtfs		MIS18 binding protein 1				10,4254		2,6,2124	97.0	100.0	99.0			-1.0	0.0	14		100	20,8234		2,16,4109	no	frameshift	MIS18BP1	NM_018353.4		4,22,6233	A1A1,A1R,RR		0.2423,0.2345,0.2397			45693722	30,12488	2203	4300	6503	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693722delT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2068delA	14.37:g.45693722delT	ENSP00000309790:p.Ser690fs						p.S690fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2526	-			690					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.2068delA	CCDS9684.1																																																																																				0.373	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			23	844						23	844	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		9	278						9	278	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)gcadel	p.A856del	BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2566-2568)del		BTB (POZ) domain containing 7																																				SO:0001651	inframe_deletion	55727							g.chr14:93712186_93712188delTGC	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2566_2568delGCA	14.37:g.93712195_93712197delTGC	ENSP00000335615:p.Ala856del					BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	p.A856del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2873_2875	-		all_cancers(154;0.08)	856			Poly-Ala.		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	In_Frame_Del	DEL	ENST00000334746.5	37	c.2566_2568delGCA	CCDS32146.1																																																																																				0.537	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		7	384						7	384	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		8	421						8	421	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691797	106691799	+	RNA	DEL	TAA	TAA	-	rs538335553	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:106691797_106691799delTAA	ENST00000390607.2	-	0	303_305									immunoglobulin heavy variable 3-21																		GTAGTATATGTAACTACTACTAC	0.517																																						ENST00000390607.2																			0																																																			0							g.chr14:106691797_106691799delTAA	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691797_106691799delTAA														0	303_305	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		9	1597						9	1597	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20710570	20710570	+	RNA	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:20710570delA	ENST00000428453.1	-	0	157							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TACATACCCTAAAAAAAAGCC	0.368																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20710570delA	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20710570delA														0	157	-									RNA	DEL	ENST00000428453.1	37																																																																																						0.368	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		8	251						8	251	---	---	---	---
ADAL	161823	broad.mit.edu	37	15	43641115	43641115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:43641115delA	ENST00000562188.1	+	8	660	c.644delA	c.(643-645)caafs	p.Q215fs	ADAL_ENST00000389651.4_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Del_p.Q188fs|ADAL_ENST00000422466.2_Frame_Shift_Del_p.Q215fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		ATTCCAAACCAAAAAAAAGAA	0.453																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(643-645)cafs		adenosine deaminase-like							69.0	68.0	68.0					15																	43641115		2201	4299	6500	SO:0001589	frameshift_variant	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641115delA		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.644delA	15.37:g.43641115delA	ENSP00000456242:p.Gln215fs					ADAL_ENST00000428046.3_Frame_Shift_Del_p.Q188fs|ADAL_ENST00000562188.1_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000389651.4_Frame_Shift_Del_p.Q215fs	p.Q215fs			Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	11	1218	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	215					A6NHZ3|B4DQM8	Frame_Shift_Del	DEL	ENST00000562188.1	37	c.644delA																																																																																					0.453	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		7	343						7	343	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51773540	51773540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:51773540delT	ENST00000251076.5	-	24	6050	c.5763delA	c.(5761-5763)aaafs	p.K1921fs	DMXL2_ENST00000543779.2_Frame_Shift_Del_p.K1921fs|DMXL2_ENST00000449909.3_Frame_Shift_Del_p.K1285fs|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1921						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAGGCTGATCTTTTTTTGCAG	0.403																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(5761-5763)aafs		Dmx-like 2							208.0	197.0	201.0					15																	51773540		2196	4293	6489	SO:0001589	frameshift_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51773540delT	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5763delA	15.37:g.51773540delT	ENSP00000251076:p.Lys1921fs					DMXL2_ENST00000449909.3_Frame_Shift_Del_p.K1285fs|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.K1921fs	p.K1921fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6050	-			1921					B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	ENST00000251076.5	37	c.5763delA	CCDS10141.1																																																																																				0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		8	1070						8	1070	---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gccagc>gcc	p.S537del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	538	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.64																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1591-1596)gcc>gc		AT rich interactive domain 3B (BRIGHT-like)																																				SO:0001651	inframe_deletion	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74888025_74888027delCAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1593_1595delCAG	15.37:g.74888034_74888036delCAG	ENSP00000343126:p.Ser537del						p.AS531del	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			9	1824_1826	+			532			Ser-rich.		O95443|Q59HC9|Q6P9C9	In_Frame_Del	DEL	ENST00000346246.5	37	c.1593_1595delCAG	CCDS10264.1																																																																																				0.640	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		11	258						11	258	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-	rs535146949|rs548644616|rs373234755	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314									DNM1 pseudogene 51																		TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557														177	0.0353435	0.0015	0.0403	5008	,	,		20334	0.0198		0.0905	False		,,,				2504	0.0368					ENST00000558801.1																			0																																																			0							g.chr15:84958415_84958426delCGAGGACATTGG			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84958415_84958426delCGAGGACATTGG														0	6303_6314	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.557	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			10	47						10	47	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4165-4167)aaafs	p.K1389fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1389fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1389					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4162-4167)ataaaafs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545433_93545434insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4173dupA	15.37:g.93545442_93545442dupA	ENSP00000377747:p.Lys1389fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	5232_5233	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1388					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4164_4165insA	CCDS10374.2																																																																																				0.337	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		22	703						22	703	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2808515	2808517	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:2808515_2808517delAGA	ENST00000301740.8	+	5	1109_1111	c.560_562delAGA	c.(559-564)cagaag>cag	p.K194del		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	194	Lys-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCCCAaagcagaagaagaagaa	0.448																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(559-564)cag>c		serine/arginine repetitive matrix 2																																				SO:0001651	inframe_deletion	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2808515_2808517delAGA	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.560_562delAGA	16.37:g.2808524_2808526delAGA	ENSP00000301740:p.Lys194del						p.QK187del	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			5	1109_1111	+			187			Lys-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	In_Frame_Del	DEL	ENST00000301740.8	37	c.560_562delAGA	CCDS32373.1																																																																																				0.448	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			7	1346						7	1346	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		18	1724						18	1724	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19058506	19058506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:19058506delT	ENST00000304381.5	+	12	1805	c.1675delT	c.(1675-1677)tttfs	p.F560fs	TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs|TMC7_ENST00000421369.3_Frame_Shift_Del_p.F450fs	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	560					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATCGGAGCCTTTTTCTCACC	0.502																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1345-1347)ttfs		transmembrane channel-like 7							294.0	304.0	300.0					16																	19058506		2197	4300	6497	SO:0001589	frameshift_variant	79905					integral to membrane		g.chr16:19058506delT	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1675delT	16.37:g.19058506delT	ENSP00000304710:p.Phe560fs					TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs|TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs	p.F450fs	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			12	1903	+			560					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Frame_Shift_Del	DEL	ENST00000304381.5	37	c.1345delT	CCDS10573.1																																																																																				0.502	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		7	3008						7	3008	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		16	1307						16	1307	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		8	1247						8	1247	---	---	---	---
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-	rs529995153	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:29110406delT	ENST00000564580.1	+	0	1098							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		TTAAAAAATCTTTTTTTTTTT	0.299													|||unknown(NO_COVERAGE)	393	0.0784744	0.1619	0.0403	5008	,	,		15270	0.0407		0.0278	False		,,,				2504	0.0838					ENST00000564580.1																			0																																																			0							g.chr16:29110406delT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110406delT														0	1098	+									RNA	DEL	ENST00000564580.1	37																																																																																						0.299	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		9	126						9	126	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		14	509						14	509	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		7	1934						7	1934	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(262-264)del		coenzyme Q9																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del	p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	331_333	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		11	785						11	785	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			9	616						9	616	---	---	---	---
CTRL	1506	broad.mit.edu	37	16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139.0	137.0	138.0					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			8	737						8	737	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-	rs369235958		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	427						7	427	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7852809	7852809	+	Frame_Shift_Del	DEL	G	G	-	rs35508310		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:7852809delG	ENST00000563694.1	+	19	3618	c.2693delG	c.(2692-2694)cggfs	p.R898fs	CNTROB_ENST00000380262.3_Frame_Shift_Del_p.R920fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.R899fs|CNTROB_ENST00000380255.3_3'UTR	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	898	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ATGAGGAGCCGGGGGGGAGTC	0.547																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2758-2760)cgfs		centrobin, centrosomal BRCA2 interacting protein							31.0	36.0	34.0					17																	7852809		2201	4299	6500	SO:0001589	frameshift_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852809delG	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2693delG	17.37:g.7852809delG	ENSP00000456335:p.Arg898fs					CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Frame_Shift_Del_p.R898fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.R899fs	p.R920fs	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			19	3684	+		Prostate(122;0.173)	898					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Frame_Shift_Del	DEL	ENST00000563694.1	37	c.2759delG	CCDS11126.1																																																																																				0.547	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		7	278						7	278	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|RNU7-43P_ENST00000516554.1_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.350	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	341						7	341	---	---	---	---
WDR16	146845	broad.mit.edu	37	17	9503387	9503389	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:9503387_9503389delGAT	ENST00000352665.5	+	6	709_711	c.640_642delGAT	c.(640-642)gatdel	p.D217del	WDR16_ENST00000299764.5_In_Frame_Del_p.D227del|WDR16_ENST00000396219.3_In_Frame_Del_p.D149del	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTCAGGTGGATGATGATGATA	0.502																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(640-642)del		WD repeat domain 16																																				SO:0001651	inframe_deletion	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9503387_9503389delGAT	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.640_642delGAT	17.37:g.9503396_9503398delGAT	ENSP00000339449:p.Asp217del					WDR16_ENST00000396219.3_In_Frame_Del_p.D149del|WDR16_ENST00000299764.5_In_Frame_Del_p.D227del	p.D217del	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			6	709_711	+			217						In_Frame_Del	DEL	ENST00000352665.5	37	c.640_642delGAT	CCDS11149.2																																																																																				0.502	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		8	700						8	700	---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16527227	16527227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:16527227delT	ENST00000311331.7	-	6	1064	c.973delA	c.(973-975)atcfs	p.I325fs		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCAGTGTGGATTTTTTTGTGC	0.353																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(973-975)tcfs		zinc finger protein 624							103.0	100.0	101.0					17																	16527227		2203	4300	6503	SO:0001589	frameshift_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527227delT	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.973delA	17.37:g.16527227delT	ENSP00000310472:p.Ile325fs						p.I325fs	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1064	-			325					Q3SY62|Q3SY63|Q6ZN27	Frame_Shift_Del	DEL	ENST00000311331.7	37	c.973delA	CCDS11180.1																																																																																				0.353	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		7	614						7	614	---	---	---	---
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del	DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507																																						ENST00000395511.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(841-846)ggg>gg		dehydrogenase/reductase (SDR family) member 7B																																				SO:0001651	inframe_deletion	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094331_21094333delGAA	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.843_845delGAA	17.37:g.21094340_21094342delGAA	ENSP00000378887:p.Lys285del					DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.GK266del	p.GK281del	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			7	1163_1165	+			281					B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	In_Frame_Del	DEL	ENST00000395511.3	37	c.843_845delGAA	CCDS11215.1																																																																																				0.507	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		8	1056						8	1056	---	---	---	---
LRRC37BP1	147172	broad.mit.edu	37	17	28960996	28960997	+	RNA	INS	-	-	TC	rs535345037|rs200505543|rs199547031	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:28960996_28960997insTC	ENST00000417404.1	+	0	1269									leucine rich repeat containing 37B pseudogene 1																		tttttctttttttttttttttt	0.302																																						ENST00000417404.1																			0																																																			0							g.chr17:28960996_28960997insTC	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960996_28960997insTC						SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA								0	1269	+									RNA	INS	ENST00000417404.1	37																																																																																						0.302	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		22	95						22	95	---	---	---	---
EVI2A	2123	broad.mit.edu	37	17	29645635	29645637	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:29645635_29645637delTGT	ENST00000462804.2	-	2	794_796	c.395_397delACA	c.(394-399)aacatg>atg	p.N132del	NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_In_Frame_Del_p.Q71del|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000247270.3_In_Frame_Del_p.N155del|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000461237.1_In_Frame_Del_p.N132del	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	132					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AGCATAGCCATGTTGTTGTTGTT	0.365																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(463-468)atg>a		ecotropic viral integration site 2A																																				SO:0001651	inframe_deletion	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645635_29645637delTGT	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.395_397delACA	17.37:g.29645644_29645646delTGT	ENSP00000420557:p.Asn132del					NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_In_Frame_Del_p.QH71del|EVI2A_ENST00000462804.2_In_Frame_Del_p.NM132del|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_In_Frame_Del_p.NM132del|NF1_ENST00000358273.4_Intron	p.NM155del	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	800_802	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	132					B2R5X2|B4DHX8	In_Frame_Del	DEL	ENST00000462804.2	37	c.464_466delACA	CCDS42293.1																																																																																				0.365	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		10	710						10	710	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:33749493delA	ENST00000394562.1	-	4	1078	c.555delT	c.(553-555)tttfs	p.F185fs	SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(553-555)ttfs		schlafen family member 12							55.0	59.0	58.0					17																	33749493		2183	4295	6478	SO:0001589	frameshift_variant	55106						ATP binding	g.chr17:33749493delA	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.555delT	17.37:g.33749493delA	ENSP00000378063:p.Phe185fs					SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs	p.F185fs			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1078	-		Ovarian(249;0.17)	185					A8K711|Q9NP47	Frame_Shift_Del	DEL	ENST00000394562.1	37	c.555delT	CCDS11295.1																																																																																				0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		9	578						9	578	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		9	404						9	404	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37686900	37686901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:37686900_37686901insC	ENST00000447079.4	+	14	3837_3838	c.3804_3805insC	c.(3805-3807)cccfs	p.P1269fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.P1260fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1269	Poly-Pro.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGCCCCCTGAGCCCCCCGGACC	0.564			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3802-3807)gaccccfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686900_37686901insC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3810dupC	17.37:g.37686906_37686906dupC	ENSP00000398880:p.Pro1269fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.DP1259fs	p.DP1268fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3837_3838	+			1268			Poly-Pro.		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.3804_3805insC	CCDS11337.1																																																																																				0.564	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		7	2387						7	2387	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G	rs368999726		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:43591984_43591985insG	ENST00000579913.1	-	0	537_538				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTGGGTCATGCGGAGCGAGTTT	0.411																																						ENST00000253803.2																			0																																																			0							g.chr17:43591984_43591985insG	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43591986_43591986dupG						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.411	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		25	473						25	473	---	---	---	---
LOC100294341	100294341	broad.mit.edu	37	17	43596433	43596433	+	RNA	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:43596433delT	ENST00000253803.2	+	0	267																											TTTTTGCCGGTTTTGGCCTAC	0.478																																						ENST00000253803.2																			0																																																			0							g.chr17:43596433delT																													17.37:g.43596433delT														0	267	+									RNA	DEL	ENST00000253803.2	37																																																																																						0.478	RP11-798G7.5-201	KNOWN	basic	antisense	antisense				8	4187						8	4187	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			28	265						28	265	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			8	99						8	99	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61899155	61899157	+	IGR	DEL	CTC	CTC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:61899155_61899157delCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_In_Frame_Del_p.E508del	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCAGTGGATTCTCCTCCTCCTCC	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1522-1524)del		FtsJ homolog 3 (E. coli)				1,4263		0,1,2131						5.2	1.0			197	2,8252		0,2,4125	no	coding	FTSJ3	NM_017647.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899155_61899157delCTC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899164_61899166delCTC							p.E508del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2167_2169	-			508					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	In_Frame_Del	DEL	ENST00000578681.1	37	c.1522_1524delGAG	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		9	1275						9	1275	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		13	295						13	295	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	CTG	-	rs527645784	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr18:47812275_47812277delCTG	ENST00000285106.6	-	5	1195_1197	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557														27	0.00539137	0.0151	0.0	5008	,	,		19878	0.0		0.0	False		,,,				2504	0.0072					ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(481-483)del		CXXC finger protein 1																																				SO:0001651	inframe_deletion	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812275_47812277delCTG	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.481_483delCAG	18.37:g.47812284_47812286delCTG	ENSP00000285106:p.Gln161del					CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del	p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			5	1195_1197	-			161					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	In_Frame_Del	DEL	ENST00000285106.6	37	c.481_483delCAG	CCDS11945.1																																																																																				0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		9	239						9	239	---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-	rs371220154		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|AC005943.5_ENST00000588960.1_lincRNA|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		10	236						10	236	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	336						7	336	---	---	---	---
SNAPC2	6618	broad.mit.edu	37	19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-	rs370485799		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:7987519delC	ENST00000221573.6	+	5	926	c.875delC	c.(874-876)accfs	p.T292fs	SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	292					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCAGAGGAGACCCCCCCAGCC	0.662																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(874-876)acfs		small nuclear RNA activating complex, polypeptide 2, 45kDa							54.0	72.0	66.0					19																	7987519		2203	4300	6503	SO:0001589	frameshift_variant	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987519delC	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.875delC	19.37:g.7987519delC	ENSP00000221573:p.Thr292fs					SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs	p.T292fs	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			5	926	+			292					B2RBZ6|D6W663|Q13486	Frame_Shift_Del	DEL	ENST00000221573.6	37	c.875delC	CCDS12190.1																																																																																				0.662	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		7	490						7	490	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2152-2154)tgfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs	p.M718fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2387	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		9	998						9	998	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA																							TCCCTGGAAAACACACACACAC	0.411																																						ENST00000590606.1																			0																																																			0							g.chr19:20243404_20243405delAC																													19.37:g.20243414_20243415delAC						CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA								0	188	-									RNA	DEL	ENST00000590606.1	37																																																																																						0.411	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			25	542						25	542	---	---	---	---
C19orf12	83636	broad.mit.edu	37	19	30193878	30193879	+	Frame_Shift_Ins	INS	-	-	C	rs398122409		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:30193878_30193879insC	ENST00000392278.2	-	3	325_326	c.199_200insG	c.(199-201)gctfs	p.A67fs	C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000323670.9_Frame_Shift_Ins_p.A56fs|C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.A56fs|C19orf12_ENST00000392276.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	67					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCCCCCGACAGCCCCCCCTAGA	0.525																																						ENST00000323670.9																			0											c.(166-168)tgtfs		chromosome 19 open reading frame 12																																				SO:0001589	frameshift_variant	83636					integral to membrane		g.chr19:30193878_30193879insC	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.200dupG	19.37:g.30193885_30193885dupC	ENSP00000376103:p.Ala67fs					C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.C56fs|C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000392278.2_Frame_Shift_Ins_p.C67fs|C19orf12_ENST00000392275.1_5'UTR	p.C56fs	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		3	305_306	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		56					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Frame_Shift_Ins	INS	ENST00000392278.2	37	c.166_167insG	CCDS42542.1																																																																																				0.525	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		8	715						8	715	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			8	1185						8	1185	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-	rs139624657|rs377069149|rs142743305		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4075-4080)gaa>ga		periaxin																																				SO:0001651	inframe_deletion	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900180_40900182delTCC	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077_4079delGGA	19.37:g.40900189_40900191delTCC	ENSP00000326018:p.Glu1361del					PRX_ENST00000291825.7_3'UTR	p.EE1359del	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4347_4349	-			1359		Missing.	Poly-Glu.		Q9BXL9|Q9HCF2	In_Frame_Del	DEL	ENST00000324001.7	37	c.4077_4079delGGA	CCDS33028.1																																																																																				0.695	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		7	167						7	167	---	---	---	---
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474857_50474861delGACGC	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474857_50474861delGACGC														0	998	+									RNA	DEL	ENST00000602139.1	37																																																																																						0.566	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		18	334						18	334	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	T	-	rs36665	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:54649671delT	ENST00000406403.1	+	8	2332	c.729delT	c.(727-729)cctfs	p.P244fs	CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	244					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCTCCCCTCCCAGCCACA	0.632																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(727-729)ccfs		CCR4-NOT transcription complex, subunit 3							130.0	105.0	113.0					19																	54649671		2203	4300	6503	SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649671delT	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.729delT	19.37:g.54649671delT	ENSP00000383954:p.Pro244fs					CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs|CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs	p.P244fs			O75175	CNOT3_HUMAN			8	2332	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		244					Q9NZN7|Q9UF76	Frame_Shift_Del	DEL	ENST00000406403.1	37	c.729delT	CCDS12880.1																																																																																				0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		8	493						8	493	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		8	844						8	844	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		12	2866						12	2866	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			8	534						8	534	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			9	2043						9	2043	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(400-402)aaafs	p.K134fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.K134fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	134					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.K133N(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(397-402)aaaaaafs		trafficking protein particle complex 10																																				SO:0001589	frameshift_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45472274_45472275insA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.407dupA	21.37:g.45472282_45472282dupA	ENSP00000291574:p.Lys134fs					TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs	p.KK133fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			4	574_575	+			133					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	c.399_400insA	CCDS13704.1																																																																																				0.356	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		13	658						13	658	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-	rs374794651		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		14	139						14	139	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		10	633						10	633	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		20	712						20	712	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(532-537)caa>ca		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		11	435						11	435	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(895-897)atfs		ADP-ribosylation factor GTPase activating protein 3							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213780delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	p.N299fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1115	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		10	901						10	901	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		17	443						17	443	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73046080	73046080	+	lincRNA	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:73046080delT	ENST00000604411.1	+	0	34041				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGCCTGGCACTTTTTTTTCCC	0.423																																						ENST00000604411.1																			0																				118.0	116.0	117.0					X																	73046080		876	1991	2867			0							g.chrX:73046080delT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046080delT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	34041	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.423	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		8	691						8	691	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		31	1337						31	1337	---	---	---	---
ZBTB33	10009	broad.mit.edu	37	X	119388276	119388278	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:119388276_119388278delGAT	ENST00000326624.2	+	2	1234_1236	c.1006_1008delGAT	c.(1006-1008)gatdel	p.D340del	ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	340					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAATAATAGATGATGATGATG	0.433																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1006-1008)del		zinc finger and BTB domain containing 33																																				SO:0001651	inframe_deletion	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388276_119388278delGAT	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1006_1008delGAT	X.37:g.119388285_119388287delGAT	ENSP00000314153:p.Asp340del					ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	1234_1236	+			340					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	In_Frame_Del	DEL	ENST00000326624.2	37	c.1006_1008delGAT	CCDS14596.1																																																																																				0.433	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		10	952						10	952	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		9	453						9	453	---	---	---	---
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)ttgfs	p.L496fs	HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1486-1488)tgfs		heparan sulfate 6-O-sulfotransferase 2							155.0	153.0	154.0					X																	131762582		1937	4110	6047	SO:0001589	frameshift_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:131762582delA	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1487delT	X.37:g.131762582delA	ENSP00000359873:p.Leu496fs					HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs	p.L496fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			4	1902	-	Acute lymphoblastic leukemia(192;0.000127)		496					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Frame_Shift_Del	DEL	ENST00000370836.2	37	c.1487delT	CCDS48169.1																																																																																				0.453	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		11	1500						11	1500	---	---	---	---
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221.0	189.0	200.0					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		12	1252						12	1252	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-	rs374739932|rs374561693		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		19	583						19	583	---	---	---	---
