#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACAN	176	genome.wustl.edu	37	15	89401208	89401208	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr15:89401208C>A	ENST00000561243.1	+	11	5392	c.5392C>A	c.(5392-5394)Cag>Aag	p.Q1798K	ACAN_ENST00000439576.2_Missense_Mutation_p.Q1798K|ACAN_ENST00000352105.7_Missense_Mutation_p.Q1798K|ACAN_ENST00000559004.1_Missense_Mutation_p.Q1798K			P16112	PGCA_HUMAN	aggrecan	1841	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTCAGTGGGCAGCCTTCAGG	0.507																																						dbGAP											0													45.0	45.0	45.0					15																	89401208		1880	4107	5987	-	-	-	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5392C>A	15.37:g.89401208C>A	ENSP00000453342:p.Gln1798Lys		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.Q1798K	ENST00000561243.1	37	c.5392	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	6.979	0.550674	0.13374	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02579	4.47;4.24	5.61	3.55	0.40652	.	0.000000	0.30959	N	0.008536	T	0.11410	0.0278	M	0.76838	2.35	0.09310	N	0.999998	D;D	0.61080	0.989;0.98	D;D	0.71656	0.932;0.974	T	0.20672	-1.0268	10	0.11182	T	0.66	-15.9769	13.3194	0.60424	0.0:0.6836:0.3164:0.0	.	1798;1798	E7ENV9;E7EX88	.;.	K	1798;1798;1684	ENSP00000387356:Q1798K;ENSP00000341615:Q1798K	ENSP00000268134:Q1684K	Q	+	1	0	ACAN	87202212	0.996000	0.38824	0.998000	0.56505	0.482000	0.33219	0.785000	0.26830	2.642000	0.89623	0.655000	0.94253	CAG	ACAN	-	NULL	ENSG00000157766		0.507	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	45	0.00	0	C	NM_001135		89401208	89401208	+1	no_errors	ENST00000439576	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	0.960	A
AIM1L	55057	genome.wustl.edu	37	1	26664147	26664147	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr1:26664147G>T	ENST00000308182.5	-	8	820	c.391C>A	c.(391-393)Cca>Aca	p.P131T	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000527815.1_Missense_Mutation_p.P302T			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	131	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGAAAGCCTGGGGCCTCATAC	0.632																																						dbGAP											0													32.0	32.0	32.0					1																	26664147		2203	4300	6503	-	-	-	SO:0001583	missense	0					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.391C>A	1.37:g.26664147G>T	ENSP00000310435:p.Pro131Thr		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.P302T	ENST00000308182.5	37	c.904		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.03|12.03	1.816855|1.816855	0.32145|0.32145	.|.	.|.	ENSG00000176092|ENSG00000176092	ENST00000429942|ENST00000527815;ENST00000308182	.|T;T	.|0.76578	.|-1.03;-1.03	4.38|4.38	2.28|2.28	0.28536|0.28536	.|Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.403746|0.403746	0.29328|0.29328	N|N	0.012464|0.012464	T|T	0.66992|0.66992	0.2846|0.2846	N|N	0.25992|0.25992	0.78|0.78	0.80722|0.80722	D|D	1|1	.|B;B	.|0.30068	.|0.267;0.001	.|B;B	.|0.37888	.|0.26;0.002	T|T	0.61922|0.61922	-0.6963|-0.6963	6|10	.|0.33141	.|T	.|0.24	.|.	10.1999|10.1999	0.43077|0.43077	0.0:0.0:0.4078:0.5921|0.0:0.0:0.4078:0.5921	.|.	.|48;131	.|Q9NTH7;Q8N1P7	.|.;AIM1L_HUMAN	H|T	68|302;131	.|ENSP00000433931:P302T;ENSP00000310435:P131T	.|ENSP00000310435:P131T	P|P	-|-	2|1	0|0	AIM1L|AIM1L	26536734|26536734	0.875000|0.875000	0.30112|0.30112	0.993000|0.993000	0.49108|0.49108	0.983000|0.983000	0.72400|0.72400	1.100000|1.100000	0.31025|0.31025	1.031000|1.031000	0.39867|0.39867	0.561000|0.561000	0.74099|0.74099	CCC|CCA	AIM1L	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000176092		0.632	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		44	0.00	0	G	NM_001039775.2		26664147	26664147	-1	no_errors	ENST00000527815	ensembl	human	known	69_37n	missense	16	42.86	12	SNP	1.000	T
BTN3A3	10384	genome.wustl.edu	37	6	26452000	26452000	+	Silent	SNP	A	A	G			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr6:26452000A>G	ENST00000244519.2	+	11	1359	c.1116A>G	c.(1114-1116)ccA>ccG	p.P372P	BTN3A3_ENST00000361232.3_Silent_p.P323P|BTN3A3_ENST00000339789.4_Silent_p.P330P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	372	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGGATCTGCCAGACAACCCTG	0.537																																						dbGAP											0													97.0	104.0	102.0					6																	26452000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1116A>G	6.37:g.26452000A>G			B4DWI7|E9PCP5	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.P372	ENST00000244519.2	37	c.1116	CCDS4611.1	6																																																																																			BTN3A3	-	superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000111801		0.537	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	188	0.00	0	A	NM_006994		26452000	26452000	+1	no_errors	ENST00000244519	ensembl	human	known	69_37n	silent	99	23.85	31	SNP	0.056	G
C9orf156	51531	genome.wustl.edu	37	9	100675677	100675677	+	Intron	SNP	G	G	C			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr9:100675677G>C	ENST00000375119.3	-	3	486				Y_RNA_ENST00000364960.1_RNA|C9orf156_ENST00000478126.1_Intron	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156						viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAATGAAATGGGTTACCTTCT	0.428																																						dbGAP											0													119.0	120.0	119.0					9																	100675677		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.409+5C>G	9.37:g.100675677G>C			Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	pfam_UPF0066,superfamily_UPF0066_YaeB	p.P137A	ENST00000375119.3	37	c.409	CCDS6730.1	9	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354161	0.41700	.	.	ENSG00000136932	ENST00000455506	T	0.77358	-1.09	4.88	-9.77	0.00500	.	.	.	.	.	T	0.38852	0.1056	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41858	-0.9485	6	0.06494	T	0.89	.	0.3848	0.00400	0.2226:0.252:0.2223:0.303	.	.	.	.	A	137	ENSP00000408473:P137A	ENSP00000408473:P137A	P	-	1	0	C9orf156	99715498	0.000000	0.05858	0.000000	0.03702	0.889000	0.51656	-2.122000	0.01321	-1.944000	0.01038	0.655000	0.94253	CCA	C9orf156	-	pfam_UPF0066,superfamily_UPF0066_YaeB	ENSG00000136932		0.428	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf156	HGNC	protein_coding	OTTHUMT00000055401.1	91	0.00	0	G	NM_016481		100675677	100675677	-1	no_start_codon	ENST00000455506	ensembl	human	known	69_37n	missense	70	38.05	43	SNP	0.000	C
CIT	11113	genome.wustl.edu	37	12	120156521	120156521	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr12:120156521C>T	ENST00000261833.7	-	30	3912	c.3860G>A	c.(3859-3861)cGg>cAg	p.R1287Q	CIT_ENST00000392521.2_Missense_Mutation_p.R1329Q|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1287	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCGGGCGGACCGGAGCTCGAT	0.547																																						dbGAP											0													103.0	103.0	103.0					12																	120156521		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3860G>A	12.37:g.120156521C>T	ENSP00000261833:p.Arg1287Gln		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R1287Q	ENST00000261833.7	37	c.3860	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.357128|4.357128	0.82243|0.82243	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.64803	.|-0.12;-0.12	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63367|0.63367	0.2505|0.2505	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.99999|0.99999	.|P;D;B	.|0.57899	.|0.835;0.981;0.309	.|B;P;B	.|0.47603	.|0.097;0.551;0.045	T|T	0.58081|0.58081	-0.7699|-0.7699	5|10	.|0.22706	.|T	.|0.39	.|.	19.919|19.919	0.97077|0.97077	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1329;1287;805	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	S|Q	900|1329;1287	.|ENSP00000376306:R1329Q;ENSP00000261833:R1287Q	.|ENSP00000261833:R1287Q	G|R	-|-	1|2	0|0	CIT|CIT	118640904|118640904	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.993000|0.993000	0.82548|0.82548	6.089000|6.089000	0.71384|0.71384	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GGT|CGG	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	122	0.00	0	C	NM_007174		120156521	120156521	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	88	15.89	17	SNP	1.000	T
CNTLN	54875	genome.wustl.edu	37	9	17332708	17332708	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr9:17332708G>C	ENST00000380647.3	+	10	1708	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	CNTLN_ENST00000262360.5_Missense_Mutation_p.E542Q|CNTLN_ENST00000425824.1_Missense_Mutation_p.E542Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	542					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TGAAAACTTAGAGAAGGCACT	0.353																																						dbGAP											0													68.0	63.0	65.0					9																	17332708		1825	4083	5908	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1624G>C	9.37:g.17332708G>C	ENSP00000370021:p.Glu542Gln		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E542Q	ENST00000380647.3	37	c.1624	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502664	0.44455	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.40225	1.04;1.04;1.04	5.54	5.54	0.83059	.	.	.	.	.	T	0.49490	0.1560	L	0.50333	1.59	0.30704	N	0.749955	P;D;P	0.56521	0.865;0.976;0.865	P;P;P	0.50405	0.521;0.64;0.521	T	0.52895	-0.8514	9	0.45353	T	0.12	.	16.5015	0.84257	0.0:0.1306:0.8694:0.0	.	542;542;542	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	Q	542	ENSP00000370021:E542Q;ENSP00000392798:E542Q;ENSP00000262360:E542Q	ENSP00000262360:E542Q	E	+	1	0	CNTLN	17322708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.564000	0.45931	2.596000	0.87737	0.591000	0.81541	GAG	CNTLN	-	NULL	ENSG00000044459		0.353	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	136	0.00	0	G	NM_017738		17332708	17332708	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	123	10.87	15	SNP	1.000	C
COL4A1	1282	genome.wustl.edu	37	13	110839539	110839539	+	Silent	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr13:110839539C>T	ENST00000375820.4	-	25	1795	c.1674G>A	c.(1672-1674)gcG>gcA	p.A558A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	558	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGAGAACCCGCTCTCCCTG	0.557																																						dbGAP											0													80.0	87.0	85.0					13																	110839539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1674G>A	13.37:g.110839539C>T			A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.A558	ENST00000375820.4	37	c.1674	CCDS9511.1	13																																																																																			COL4A1	-	pfam_Collagen	ENSG00000187498		0.557	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	64	0.00	0	C			110839539	110839539	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	silent	47	20.34	12	SNP	0.939	T
ACKR1	2532	genome.wustl.edu	37	1	159175674	159175674	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr1:159175674T>A	ENST00000368122.2	+	2	1124	c.445T>A	c.(445-447)Tgc>Agc	p.C149S	DARC_ENST00000368121.2_Missense_Mutation_p.C151S|DARC_ENST00000537147.1_Missense_Mutation_p.C149S|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		149					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GCTGCTAGGGTGCCATGCCTC	0.637																																						dbGAP											0													51.0	38.0	42.0					1																	159175674		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000368122.2:c.445T>A	1.37:g.159175674T>A	ENSP00000357104:p.Cys149Ser		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	prints_Duffy_chemokine_rcpt	p.C151S	ENST00000368122.2	37	c.451	CCDS1183.1	1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929461	0.34096	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.37584	1.19;1.19;1.89;1.19	5.23	1.3	0.21679	.	0.957152	0.08465	U	0.941892	T	0.07234	0.0183	L	0.31926	0.97	0.09310	N	1	B;B	0.23990	0.095;0.035	B;B	0.18561	0.022;0.022	T	0.35724	-0.9777	10	0.15066	T	0.55	-10.7242	2.1459	0.03787	0.1571:0.0914:0.1623:0.5893	.	151;149	Q5Y7A1;Q16570	.;DUFFY_HUMAN	S	149;149;149;151;151	ENSP00000357104:C149S;ENSP00000441985:C149S;ENSP00000398406:C151S;ENSP00000357103:C151S	ENSP00000352341:C149S	C	+	1	0	DARC	157442298	0.000000	0.05858	0.011000	0.14972	0.931000	0.56810	0.258000	0.18387	0.375000	0.24679	0.459000	0.35465	TGC	DARC	-	NULL	ENSG00000213088		0.637	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARC	HGNC	protein_coding	OTTHUMT00000090338.2	61	0.00	0	T			159175674	159175674	+1	no_errors	ENST00000368121	ensembl	human	known	69_37n	missense	58	14.71	10	SNP	0.000	A
DOCK4	9732	genome.wustl.edu	37	7	111535769	111535769	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr7:111535769C>T	ENST00000437633.1	-	16	1742	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	DOCK4_ENST00000428084.1_Missense_Mutation_p.E496K|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	496	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTCCTTTCTCCTTTGCTGTA	0.368																																						dbGAP											0													186.0	167.0	173.0					7																	111535769		1885	4114	5999	-	-	-	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1486G>A	7.37:g.111535769C>T	ENSP00000404179:p.Glu496Lys		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.E496K	ENST00000437633.1	37	c.1486	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	C	30	5.051484	0.93793	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.14022	2.54;2.54	5.7	4.83	0.62350	.	0.090403	0.85682	N	0.000000	T	0.24314	0.0589	L	0.58354	1.805	0.80722	D	1	P;P;P	0.45768	0.537;0.866;0.537	B;P;B	0.49421	0.374;0.61;0.222	T	0.01212	-1.1417	10	0.72032	D	0.01	.	14.6862	0.69052	0.0:0.9304:0.0:0.0696	.	496;496;496	Q149N2;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	K	484;496;496;484;495	ENSP00000410746:E496K;ENSP00000404179:E496K	ENSP00000345432:E484K	E	-	1	0	DOCK4	111323005	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	1.403000	0.46800	0.655000	0.94253	GAG	DOCK4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000128512		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	1055	0.09	1	C	NM_014705		111535769	111535769	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	missense	928	18.12	206	SNP	1.000	T
DSP	1832	genome.wustl.edu	37	6	7585725	7585725	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr6:7585725A>T	ENST00000379802.3	+	24	8571	c.8230A>T	c.(8230-8232)Agg>Tgg	p.R2744W	DSP_ENST00000418664.2_Missense_Mutation_p.R2145W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2744	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTGCATGGGAGGATAAGCAC	0.577																																						dbGAP											0													73.0	77.0	76.0					6																	7585725		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8230A>T	6.37:g.7585725A>T	ENSP00000369129:p.Arg2744Trp		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R2744W	ENST00000379802.3	37	c.8230	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081056	0.36758	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.79454	-1.27;-1.27	5.46	1.42	0.22433	.	0.000000	0.64402	D	0.000003	D	0.83977	0.5371	M	0.87682	2.9	0.30629	N	0.757642	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82362	-0.0495	10	0.87932	D	0	.	13.075	0.59081	0.6163:0.3837:0.0:0.0	.	2192;2744	Q4LE79;P15924	.;DESP_HUMAN	W	2744;2145	ENSP00000369129:R2744W;ENSP00000396591:R2145W	ENSP00000369129:R2744W	R	+	1	2	DSP	7530724	0.986000	0.35501	0.980000	0.43619	0.229000	0.25112	2.467000	0.45093	0.066000	0.16515	-0.313000	0.08912	AGG	DSP	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000096696		0.577	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	179	0.00	0	A	NM_004415		7585725	7585725	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	103	20.00	26	SNP	0.989	T
GATA3	2625	genome.wustl.edu	37	10	8115874	8115875	+	Frame_Shift_Ins	INS	-	-	G	rs144824106		TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr10:8115874_8115875insG	ENST00000346208.3	+	6	1675_1676	c.1220_1221insG	c.(1219-1224)tcgcccfs	p.P408fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.P409fs			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(6)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGCC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	6	Insertion - Frameshift(6)	breast(6)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1221dupG	10.37:g.8115875_8115875dupG	ENSP00000341619:p.Pro408fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P409fs	ENST00000346208.3	37	c.1223_1224	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	122	0.00	0	-	NM_001002295		8115874	8115875	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	63	17.11	13	INS	0.903:0.359	G
GLYAT	10249	genome.wustl.edu	37	11	58477428	58477428	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr11:58477428C>A	ENST00000344743.3	-	6	843	c.702G>T	c.(700-702)ttG>ttT	p.L234F	GLYAT_ENST00000529732.1_Missense_Mutation_p.L234F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	234					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGTATTCCGGCAAGGTGCCTG	0.537																																						dbGAP											0													63.0	61.0	61.0					11																	58477428		2201	4295	6496	-	-	-	SO:0001583	missense	0			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.702G>T	11.37:g.58477428C>A	ENSP00000340200:p.Leu234Phe		O14833|Q96QK7	Missense_Mutation	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.L234F	ENST00000344743.3	37	c.702	CCDS7970.1	11	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002573	0.35320	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.20463	2.07;2.07	6.06	1.9	0.25705	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	1.421900	0.04581	N	0.394958	T	0.43077	0.1231	M	0.81802	2.56	0.29707	N	0.839698	D	0.52996	0.957	P	0.59221	0.854	T	0.08534	-1.0717	10	0.54805	T	0.06	0.095	5.1614	0.15064	0.0:0.5944:0.1469:0.2587	.	234	Q6IB77	GLYAT_HUMAN	F	234	ENSP00000340200:L234F;ENSP00000431688:L234F	ENSP00000340200:L234F	L	-	3	2	GLYAT	58234004	0.245000	0.23899	0.234000	0.24042	0.060000	0.15804	-0.077000	0.11394	0.407000	0.25591	0.650000	0.86243	TTG	GLYAT	-	pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	ENSG00000149124		0.537	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYAT	HGNC	protein_coding	OTTHUMT00000394593.1	111	0.89	1	C			58477428	58477428	-1	no_errors	ENST00000344743	ensembl	human	known	69_37n	missense	85	23.42	26	SNP	0.538	A
IARS2	55699	genome.wustl.edu	37	1	220307827	220307827	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr1:220307827G>T	ENST00000302637.5	+	15	2025	c.1921G>T	c.(1921-1923)Gca>Tca	p.A641S	IARS2_ENST00000366922.1_Missense_Mutation_p.A569S|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	641					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AACAAGTGTGGCAGCAAGGAA	0.433																																						dbGAP											0													84.0	79.0	81.0					1																	220307827		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1921G>T	1.37:g.220307827G>T	ENSP00000303279:p.Ala641Ser		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.A641S	ENST00000302637.5	37	c.1921	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475776	0.84640	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.51325	0.71;0.71	4.9	4.9	0.64082	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79443	-0.1801	10	0.72032	D	0.01	-2.6619	18.4447	0.90680	0.0:0.0:1.0:0.0	.	641	Q9NSE4	SYIM_HUMAN	S	569;641	ENSP00000355889:A569S;ENSP00000303279:A641S	ENSP00000303279:A641S	A	+	1	0	IARS2	218374450	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	9.154000	0.94694	2.421000	0.82119	0.655000	0.94253	GCA	IARS2	-	pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-synt	ENSG00000067704		0.433	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		74	0.00	0	G	NM_018060		220307827	220307827	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	missense	97	31.69	45	SNP	1.000	T
JPH1	56704	genome.wustl.edu	37	8	75227343	75227343	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr8:75227343G>A	ENST00000342232.4	-	2	932	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	298					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCATTGGAGCGCTCGCTAACG	0.537																																						dbGAP											0													135.0	130.0	131.0					8																	75227343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.892C>T	8.37:g.75227343G>A	ENSP00000344488:p.Arg298Cys		B2RTZ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.R298C	ENST00000342232.4	37	c.892	CCDS6217.1	8	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795381	0.70452	.	.	ENSG00000104369	ENST00000342232	T	0.53857	0.6	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64956	-0.6285	10	0.54805	T	0.06	.	19.1608	0.93531	0.0:0.0:1.0:0.0	.	298	Q9HDC5	JPH1_HUMAN	C	298	ENSP00000344488:R298C	ENSP00000344488:R298C	R	-	1	0	JPH1	75389898	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.150000	0.50662	2.749000	0.94314	0.655000	0.94253	CGC	JPH1	-	pfam_MORN,smart_MORN,pirsf_Junctophilin	ENSG00000104369		0.537	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	100	0.00	0	G			75227343	75227343	-1	no_errors	ENST00000342232	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	1.000	A
KCNJ2	3759	genome.wustl.edu	37	17	68172397	68172397	+	Missense_Mutation	SNP	T	T	C	rs202149686		TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr17:68172397T>C	ENST00000243457.3	+	2	1600	c.1217T>C	c.(1216-1218)aTa>aCa	p.I406T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I406T	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	406					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCCCCTGACATAGACCTTCAC	0.473																																						dbGAP											0													127.0	122.0	123.0					17																	68172397		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.1217T>C	17.37:g.68172397T>C	ENSP00000243457:p.Ile406Thr		O15110|P48049	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1	p.I406T	ENST00000243457.3	37	c.1217	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	T	6.435	0.448313	0.12223	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.87334	-2.24;-2.24	6.07	6.07	0.98685	.	0.615629	0.18440	N	0.141173	T	0.75961	0.3921	N	0.08118	0	0.25784	N	0.984698	B	0.02656	0.0	B	0.01281	0.0	T	0.58864	-0.7561	9	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	406	P63252	IRK2_HUMAN	T	406	ENSP00000441848:I406T;ENSP00000243457:I406T	.	I	+	2	0	KCNJ2	65683992	0.872000	0.30054	0.537000	0.28052	0.990000	0.78478	3.758000	0.55220	2.326000	0.78906	0.533000	0.62120	ATA	KCNJ2	-	prints_K_chnl_inward-rec_Kir2.1	ENSG00000123700		0.473	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	276	0.00	0	T	NM_000891		68172397	68172397	+1	no_errors	ENST00000243457	ensembl	human	known	69_37n	missense	247	16.55	49	SNP	0.656	C
KLHL36	79786	genome.wustl.edu	37	16	84695234	84695235	+	Frame_Shift_Ins	INS	-	-	G	rs373757262		TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr16:84695234_84695235insG	ENST00000564996.1	+	5	1487_1488	c.1346_1347insG	c.(1345-1350)tcggggfs	p.SG449fs	KLHL36_ENST00000258157.5_Frame_Shift_Ins_p.SG386fs	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	449					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGTACATCTCGGGGGGCCACG	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1352dupG	16.37:g.84695240_84695240dupG	ENSP00000456743:p.Ser449fs		Q8N5G6|Q9H9U6	Frame_Shift_Ins	INS	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H452fs	ENST00000564996.1	37	c.1346_1347	CCDS10948.1	16																																																																																			KLHL36	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000135686		0.639	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	20	0.00	0	-			84695234	84695235	+1	no_errors	ENST00000564996	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.299	G
KRT78	196374	genome.wustl.edu	37	12	53242469	53242470	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr12:53242469_53242470insC	ENST00000304620.4	-	1	308_309	c.245_246insG	c.(244-246)ggcfs	p.G82fs	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	82	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCTTGGATGCCCCCCGGAGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.246dupG	12.37:g.53242475_53242475dupC	ENSP00000306261:p.Gly82fs		A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Ins	INS	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I83fs	ENST00000304620.4	37	c.246_245	CCDS8840.1	12																																																																																			KRT78	-	NULL	ENSG00000170423		0.629	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	HGNC	protein_coding	OTTHUMT00000406380.1	42	0.00	0	-	NM_173352		53242469	53242470	-1	no_errors	ENST00000304620	ensembl	human	known	69_37n	frame_shift_ins	25	10.71	3	INS	1.000:1.000	C
MAD2L1	4085	genome.wustl.edu	37	4	120981377	120981377	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr4:120981377G>T	ENST00000296509.6	-	5	853	c.514C>A	c.(514-516)Cca>Aca	p.P172T		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	172	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						ATAAACTGTGGTCCCGACTCT	0.373																																						dbGAP											0													95.0	91.0	92.0					4																	120981377		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.514C>A	4.37:g.120981377G>T	ENSP00000296509:p.Pro172Thr		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.P172T	ENST00000296509.6	37	c.514	CCDS3715.1	4	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605101	0.87157	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	5.13	0.70059	DNA-binding HORMA (4);	0.050198	0.85682	D	0.000000	D	0.82986	0.5156	M	0.84683	2.71	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	T	0.82918	-0.0219	9	0.36615	T	0.2	-5.9034	18.9343	0.92579	0.0:0.0:1.0:0.0	.	172	Q13257	MD2L1_HUMAN	T	172	.	ENSP00000296509:P172T	P	-	1	0	MAD2L1	121200825	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.265000	0.95647	2.542000	0.85734	0.591000	0.81541	CCA	MAD2L1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000164109		0.373	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1	HGNC	protein_coding	OTTHUMT00000256525.2	108	0.00	0	G			120981377	120981377	-1	no_errors	ENST00000296509	ensembl	human	known	69_37n	missense	56	34.88	30	SNP	1.000	T
MAN1A1	4121	genome.wustl.edu	37	6	119569483	119569483	+	Silent	SNP	A	A	G			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr6:119569483A>G	ENST00000368468.3	-	6	1375	c.934T>C	c.(934-936)Ttg>Ctg	p.L312L	MAN1A1_ENST00000368466.2_Silent_p.L335L	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	312					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCAGGTAGCAATTTTACCCCA	0.348																																					Ovarian(136;8 1825 12608 33541 47587)	dbGAP											0													93.0	90.0	91.0					6																	119569483		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.934T>C	6.37:g.119569483A>G			E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L312	ENST00000368468.3	37	c.934	CCDS5122.1	6																																																																																			MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000111885		0.348	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	181	0.00	0	A	NM_005907		119569483	119569483	-1	no_errors	ENST00000368468	ensembl	human	known	69_37n	silent	111	33.73	57	SNP	1.000	G
MYH11	4629	genome.wustl.edu	37	16	15797924	15797924	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr16:15797924A>G	ENST00000300036.5	-	41	5952	c.5843T>C	c.(5842-5844)aTt>aCt	p.I1948T	MYH11_ENST00000396324.3_Missense_Mutation_p.I1955T|MYH11_ENST00000576790.2_3'UTR|MYH11_ENST00000452625.2_3'UTR|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000573908.1_5'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1948	C-terminal.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCATTTTCAATAACTCTACG	0.438			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													196.0	187.0	190.0					16																	15797924		2197	4300	6497	-	-	-	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5843T>C	16.37:g.15797924A>G	ENSP00000300036:p.Ile1948Thr		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1955T	ENST00000300036.5	37	c.5864	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702585	0.30232	.	.	ENSG00000133392	ENST00000300036;ENST00000396324	D;D	0.85013	-1.93;-1.93	5.43	5.43	0.79202	.	0.230226	0.36134	N	0.002780	T	0.76335	0.3973	N	0.19112	0.55	0.80722	D	1	B;B	0.22909	0.077;0.046	B;B	0.23275	0.045;0.028	T	0.74677	-0.3585	10	0.87932	D	0	.	12.8501	0.57852	1.0:0.0:0.0:0.0	.	1948;1955	P35749;Q3MNF1	MYH11_HUMAN;.	T	1948;1955	ENSP00000300036:I1948T;ENSP00000379616:I1955T	ENSP00000300036:I1948T	I	-	2	0	MYH11	15705425	1.000000	0.71417	0.997000	0.53966	0.627000	0.37826	5.502000	0.66956	2.053000	0.61076	0.459000	0.35465	ATT	MYH11	-	NULL	ENSG00000133392		0.438	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	137	0.00	0	A	NM_001040113		15797924	15797924	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	missense	134	25.68	47	SNP	1.000	G
NFATC2	4773	genome.wustl.edu	37	20	50140351	50140351	+	Silent	SNP	G	G	A			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr20:50140351G>A	ENST00000396009.3	-	2	648	c.429C>T	c.(427-429)gcC>gcT	p.A143A	NFATC2_ENST00000609943.1_Silent_p.A123A|NFATC2_ENST00000371564.3_Silent_p.A143A|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Silent_p.A123A|NFATC2_ENST00000610033.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	143	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGCCACCCCGGCCAGGGGCG	0.716																																						dbGAP											0													8.0	10.0	10.0					20																	50140351		2163	4187	6350	-	-	-	SO:0001819	synonymous_variant	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.429C>T	20.37:g.50140351G>A			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD	p.A143	ENST00000396009.3	37	c.429	CCDS13437.1	20																																																																																			NFATC2	-	NULL	ENSG00000101096		0.716	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	17	0.00	0	G	NM_012340		50140351	50140351	-1	no_errors	ENST00000396009	ensembl	human	known	69_37n	silent	14	30.00	6	SNP	0.200	A
NUB1	51667	genome.wustl.edu	37	7	151064964	151064964	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr7:151064964G>C	ENST00000355851.4	+	10	1082	c.1005G>C	c.(1003-1005)gaG>gaC	p.E335D	NUB1_ENST00000413040.2_Missense_Mutation_p.E359D|NUB1_ENST00000568733.1_Missense_Mutation_p.E359D|NUB1_ENST00000566856.1_Missense_Mutation_p.E335D	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	335					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGGGAAAGAGAAGGTACTGT	0.343											OREG0018452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													62.0	57.0	59.0					7																	151064964		1813	4088	5901	-	-	-	SO:0001583	missense	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1005G>C	7.37:g.151064964G>C	ENSP00000348110:p.Glu335Asp	1737	O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E359D	ENST00000355851.4	37	c.1077		7	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440258	0.43326	.	.	ENSG00000013374	ENST00000413040;ENST00000355851	T	0.60424	0.19	5.63	3.76	0.43208	.	0.052581	0.85682	D	0.000000	T	0.72179	0.3428	M	0.70842	2.15	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.72769	-0.4193	10	0.72032	D	0.01	-7.9401	10.3994	0.44220	0.1639:0.0:0.8361:0.0	.	335;335	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	D	335	ENSP00000348110:E335D	ENSP00000348110:E335D	E	+	3	2	NUB1	150695897	1.000000	0.71417	0.998000	0.56505	0.122000	0.20287	2.548000	0.45794	0.677000	0.31305	-0.150000	0.13652	GAG	NUB1	-	NULL	ENSG00000013374		0.343	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		26	0.00	0	G	NM_016118		151064964	151064964	+1	no_errors	ENST00000568733	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	C
OR4D2	124538	genome.wustl.edu	37	17	56247170	56247170	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr17:56247170G>T	ENST00000545221.1	+	1	154	c.154G>T	c.(154-156)Gat>Tat	p.D52Y		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						AGTGACCTCTGATTCCCAGCT	0.488																																						dbGAP											0													208.0	186.0	194.0					17																	56247170		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.154G>T	17.37:g.56247170G>T	ENSP00000441354:p.Asp52Tyr		Q6IFN8|Q96R75	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D52Y	ENST00000545221.1	37	c.154	CCDS32688.1	17	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457758	0.26161	.	.	ENSG00000255713	ENST00000545221	T	0.02974	4.09	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.21145	0.0509	M	0.92923	3.36	0.30765	N	0.743614	D	0.76494	0.999	D	0.67900	0.954	T	0.15867	-1.0422	10	0.72032	D	0.01	-15.4627	17.0178	0.86424	0.0:0.0:1.0:0.0	.	52	P58180	OR4D2_HUMAN	Y	52	ENSP00000441354:D52Y	ENSP00000441354:D52Y	D	+	1	0	OR4D2	53602169	0.966000	0.33281	0.115000	0.21578	0.092000	0.18411	3.761000	0.55242	2.698000	0.92095	0.609000	0.83330	GAT	OR4D2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000255713		0.488	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D2	HGNC	protein_coding	OTTHUMT00000443366.1	713	0.00	0	G			56247170	56247170	+1	no_errors	ENST00000545221	ensembl	human	known	69_37n	missense	662	24.63	217	SNP	0.604	T
PGAM4	441531	genome.wustl.edu	37	X	77224588	77224588	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chrX:77224588A>C	ENST00000458128.1	-	1	547	c.548T>G	c.(547-549)aTt>aGt	p.I183S	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	183					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						ATGGGCTGCAATCAGTACACG	0.527																																						dbGAP											0													85.0	80.0	82.0					X																	77224588		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.548T>G	X.37:g.77224588A>C	ENSP00000412189:p.Ile183Ser		Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.I183S	ENST00000458128.1	37	c.548	CCDS35338.1	X	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843554	0.71488	.	.	ENSG00000226784	ENST00000458128	D	0.84223	-1.82	0.119	0.119	0.14685	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	U	0.000000	D	0.90477	0.7017	H	0.94808	3.585	0.52099	D	0.99994	P	0.50156	0.932	P	0.55545	0.778	D	0.87459	0.2406	9	.	.	.	-24.2581	4.7185	0.12906	0.9997:0.0:3.0E-4:0.0	.	183	Q8N0Y7	PGAM4_HUMAN	S	183	ENSP00000412189:I183S	.	I	-	2	0	PGAM4	77111244	1.000000	0.71417	0.844000	0.33320	0.848000	0.48234	6.156000	0.71840	0.221000	0.20879	0.218000	0.17770	ATT	PGAM4	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	ENSG00000226784		0.527	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM4	HGNC	protein_coding	OTTHUMT00000128371.2	277	0.00	0	A	NM_001029891		77224588	77224588	-1	no_errors	ENST00000458128	ensembl	human	known	69_37n	missense	161	16.15	31	SNP	1.000	C
POTEH	23784	genome.wustl.edu	37	22	16277750	16277752	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	ATT	ATT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr22:16277750_16277752delATT	ENST00000343518.6	-	5	1213_1215	c.1162_1164delAAT	c.(1162-1164)aatdel	p.N388del	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	388										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACACTTACACATTATGACGACTA	0.355																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1162_1164delAAT	22.37:g.16277750_16277752delATT	ENSP00000340610:p.Asn388del		A2CEK4|A6NCI1|A9Z1W0	In_Frame_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N388in_frame_del	ENST00000343518.6	37	c.1164_1162	CCDS46658.1	22																																																																																			POTEH	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198062		0.355	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	41	0.00	0	ATT	NM_001136213		16277750	16277752	-1	no_errors	ENST00000343518	ensembl	human	known	69_37n	in_frame_del	55	15.38	10	DEL	0.020:0.012:0.009	-
PPFIA2	8499	genome.wustl.edu	37	12	81851615	81851615	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr12:81851615C>A	ENST00000549396.1	-	5	494	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	PPFIA2_ENST00000550359.2_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A94S|PPFIA2_ENST00000550584.2_Missense_Mutation_p.A112S|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A112S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A112S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A38S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A94S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A38S|RP11-315E17.1_ENST00000550272.1_RNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	112					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCCTGCAGGCATTTAATTCT	0.299																																						dbGAP											0													110.0	93.0	98.0					12																	81851615		1789	4057	5846	-	-	-	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.334G>T	12.37:g.81851615C>A	ENSP00000450337:p.Ala112Ser		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.A112S	ENST00000549396.1	37	c.334	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807665	0.70797	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000551442;ENST00000547623	T;T;T;T;T;T;T;T;T	0.38240	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.15	5.66	5.66	0.87406	.	0.057269	0.64402	D	0.000001	T	0.54679	0.1873	L	0.44542	1.39	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.73380	0.98;0.956	T	0.49735	-0.8908	10	0.48119	T	0.1	-8.8598	19.7365	0.96208	0.0:1.0:0.0:0.0	.	12;112	B7Z4H8;O75334	.;LIPA2_HUMAN	S	112;94;38;123;94;112;38;112;94;112	ENSP00000450337:A112S;ENSP00000450298:A94S;ENSP00000385093:A38S;ENSP00000327416:A94S;ENSP00000449338:A112S;ENSP00000388373:A38S;ENSP00000447868:A112S;ENSP00000449469:A94S;ENSP00000447918:A112S	ENSP00000327416:A94S	A	-	1	0	PPFIA2	80375746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.492000	0.60334	2.672000	0.90937	0.655000	0.94253	GCC	PPFIA2	-	NULL	ENSG00000139220		0.299	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	71	0.00	0	C			81851615	81851615	-1	no_errors	ENST00000549396	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	1.000	A
RPRD1B	58490	genome.wustl.edu	37	20	36662443	36662443	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr20:36662443C>T	ENST00000373433.4	+	1	496	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	TTI1_ENST00000373448.2_5'Flank|TTI1_ENST00000373447.3_5'Flank	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	32	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGGCTCATCCACCACCGCAA	0.627																																						dbGAP											0													98.0	88.0	91.0					20																	36662443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.94C>T	20.37:g.36662443C>T	ENSP00000362532:p.His32Tyr		Q1WDE7|Q6PKF4	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.H32Y	ENST00000373433.4	37	c.94	CCDS13301.1	20	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403168	0.83230	.	.	ENSG00000101413	ENST00000373433	T	0.42900	0.96	5.27	5.27	0.74061	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.043157	0.85682	D	0.000000	T	0.64472	0.2601	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.67098	-0.5756	10	0.87932	D	0	-14.8342	17.6394	0.88131	0.0:1.0:0.0:0.0	.	32	Q9NQG5	RPR1B_HUMAN	Y	32	ENSP00000362532:H32Y	ENSP00000362532:H32Y	H	+	1	0	RPRD1B	36095857	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.378000	0.79679	2.735000	0.93741	0.655000	0.94253	CAC	RPRD1B	-	superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	ENSG00000101413		0.627	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1B	HGNC	protein_coding	OTTHUMT00000079142.2	84	0.00	0	C	NM_021215		36662443	36662443	+1	no_errors	ENST00000373433	ensembl	human	known	69_37n	missense	66	20.48	17	SNP	1.000	T
RUSC2	9853	genome.wustl.edu	37	9	35546754	35546754	+	Missense_Mutation	SNP	G	G	T	rs143569329		TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr9:35546754G>T	ENST00000455600.1	+	2	805	c.236G>T	c.(235-237)cGg>cTg	p.R79L	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	79						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGAACTGCACGGTCTATAGAC	0.592																																						dbGAP											0													73.0	68.0	70.0					9																	35546754		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.236G>T	9.37:g.35546754G>T	ENSP00000393922:p.Arg79Leu		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.R79L	ENST00000455600.1	37	c.236	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	2.942	-0.218767	0.06101	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.22945	1.93;1.93	5.51	4.62	0.57501	.	0.691728	0.13945	N	0.351936	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	B	0.25007	0.116	B	0.17433	0.018	T	0.15549	-1.0433	10	0.49607	T	0.09	-5.7066	9.8138	0.40840	0.1748:0.0:0.8252:0.0	.	79	Q8N2Y8	RUSC2_HUMAN	L	79	ENSP00000355177:R79L;ENSP00000393922:R79L	ENSP00000355177:R79L	R	+	2	0	RUSC2	35536754	0.980000	0.34600	0.019000	0.16419	0.148000	0.21650	2.128000	0.42045	1.321000	0.45227	0.555000	0.69702	CGG	RUSC2	-	NULL	ENSG00000198853		0.592	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	75	0.00	0	G	XM_048462		35546754	35546754	+1	no_errors	ENST00000361226	ensembl	human	known	69_37n	missense	28	49.09	27	SNP	0.033	T
RYR1	6261	genome.wustl.edu	37	19	38976764	38976764	+	Silent	SNP	G	G	A			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr19:38976764G>A	ENST00000359596.3	+	34	5469	c.5469G>A	c.(5467-5469)ggG>ggA	p.G1823G	RYR1_ENST00000355481.4_Silent_p.G1823G|RYR1_ENST00000360985.3_Silent_p.G1823G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1823	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCGACGGTGGGCAGCACGCTC	0.697																																						dbGAP											0													71.0	69.0	70.0					19																	38976764		2202	4293	6495	-	-	-	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5469G>A	19.37:g.38976764G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.G1823	ENST00000359596.3	37	c.5469	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.697	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	115	0.00	0	G			38976764	38976764	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	79	21.00	21	SNP	0.979	A
RYR3	6263	genome.wustl.edu	37	15	34115275	34115275	+	Splice_Site	SNP	T	T	G			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr15:34115275T>G	ENST00000389232.4	+	81	11142		c.e81+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTTGCAGGTAAATGCGGGA	0.423																																						dbGAP											0													107.0	100.0	102.0					15																	34115275		1854	4092	5946	-	-	-	SO:0001630	splice_region_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11072+2T>G	15.37:g.34115275T>G			O15175|Q15412	Splice_Site	SNP	-	e81+2	ENST00000389232.4	37	c.11072+2	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911777	0.72983	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4969	0.75662	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31902567	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.713000	0.84693	2.243000	0.73865	0.533000	0.62120	.	RYR3	-	-	ENSG00000198838		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	59	0.00	0	T		Intron	34115275	34115275	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	splice_site	41	44.59	33	SNP	1.000	G
SERPINB1	1992	genome.wustl.edu	37	6	2833961	2833961	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr6:2833961C>T	ENST00000380739.5	-	7	1223	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	SERPINB1_ENST00000537185.1_Missense_Mutation_p.A190T|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	341					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CAGAAAGTTGCGATGCCTGCT	0.448																																						dbGAP											0													51.0	54.0	53.0					6																	2833961		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.1021G>A	6.37:g.2833961C>T	ENSP00000370115:p.Ala341Thr		A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.A341T	ENST00000380739.5	37	c.1021	CCDS4477.1	6	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010254	0.35511	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	T;T	0.17370	2.28;2.78	5.57	3.68	0.42216	Serpin domain (3);	0.485574	0.23700	N	0.045430	T	0.06142	0.0159	L	0.42632	1.34	0.09310	N	0.999999	B	0.15719	0.014	B	0.17722	0.019	T	0.20907	-1.0261	10	0.48119	T	0.1	.	9.711	0.40245	0.1401:0.7865:0.0:0.0733	.	341	P30740	ILEU_HUMAN	T	341;303;190	ENSP00000370115:A341T;ENSP00000444543:A190T	ENSP00000370115:A341T	A	-	1	0	SERPINB1	2778960	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.219000	0.17641	1.512000	0.48834	0.650000	0.86243	GCA	SERPINB1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000021355		0.448	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB1	HGNC	protein_coding	OTTHUMT00000039637.1	101	0.00	0	C			2833961	2833961	-1	no_errors	ENST00000380739	ensembl	human	known	69_37n	missense	101	15.83	19	SNP	0.016	T
SGCD	6444	genome.wustl.edu	37	5	156186373	156186373	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr5:156186373G>T	ENST00000435422.3	+	8	1329	c.842G>T	c.(841-843)tGt>tTt	p.C281F	SGCD_ENST00000337851.4_Missense_Mutation_p.C282F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	281					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.C282F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGTCCACTTGTCAGATAAAC	0.502																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											124.0	118.0	120.0					5																	156186373		1942	4154	6096	-	-	-	SO:0001583	missense	0			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.842G>T	5.37:g.156186373G>T	ENSP00000403003:p.Cys281Phe		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	pfam_Sarcoglycan	p.C282F	ENST00000435422.3	37	c.845	CCDS47327.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528235	0.85706	.	.	ENSG00000170624	ENST00000435422;ENST00000337851	D;D	0.96200	-3.94;-3.94	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	M	0.77616	2.38	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	D	0.98406	1.0570	10	0.87932	D	0	-2.0736	18.5207	0.90951	0.0:0.0:1.0:0.0	.	281;282	Q92629;Q92629-2	SGCD_HUMAN;.	F	281;282	ENSP00000403003:C281F;ENSP00000338343:C282F	ENSP00000338343:C282F	C	+	2	0	SGCD	156118951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.282000	0.95840	2.447000	0.82792	0.655000	0.94253	TGT	SGCD	-	pfam_Sarcoglycan	ENSG00000170624		0.502	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	HGNC	protein_coding	OTTHUMT00000373469.3	216	0.00	0	G			156186373	156186373	+1	no_errors	ENST00000337851	ensembl	human	known	69_37n	missense	132	31.09	60	SNP	1.000	T
SH3GL1	6455	genome.wustl.edu	37	19	4363740	4363741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr19:4363740_4363741insG	ENST00000269886.3	-	6	778_779	c.600_601insC	c.(598-603)agcatgfs	p.M201fs	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Frame_Shift_Ins_p.M153fs|SH3GL1_ENST00000598564.1_Frame_Shift_Ins_p.M137fs	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	201	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGGTTGTGCATGCTGGTTTCTG	0.589			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	dbGAP		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.601dupC	19.37:g.4363741_4363741dupG	ENSP00000269886:p.Met201fs		B4DRA1|E7EVZ4|M0QZV5|Q99668	Frame_Shift_Ins	INS	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,prints_SH3_domain,prints_p67phox,pfscan_BAR_dom,pfscan_SH3_domain	p.M200fs	ENST00000269886.3	37	c.601_600	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000141985		0.589	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	38	0.00	0	-	NM_003025		4363740	4363741	-1	no_errors	ENST00000269886	ensembl	human	known	69_37n	frame_shift_ins	42	59.22	61	INS	1.000:1.000	G
SH3GL1	6455	genome.wustl.edu	37	19	4364180	4364181	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr19:4364180_4364181delGG	ENST00000269886.3	-	5	547_548	c.369_370delCC	c.(367-372)cgcctgfs	p.L124fs	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Frame_Shift_Del_p.L76fs|SH3GL1_ENST00000598564.1_Intron	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	124	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		ACCTCTGCCAGGCGCTTCATGG	0.584			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	dbGAP		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.369_370delCC	19.37:g.4364180_4364181delGG	ENSP00000269886:p.Leu124fs		B4DRA1|E7EVZ4|M0QZV5|Q99668	Frame_Shift_Del	DEL	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,prints_SH3_domain,prints_p67phox,pfscan_BAR_dom,pfscan_SH3_domain	p.L124fs	ENST00000269886.3	37	c.370_369	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000141985		0.584	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	11	0.00	0	GG	NM_003025		4364180	4364181	-1	no_errors	ENST00000269886	ensembl	human	known	69_37n	frame_shift_del	5	79.17	19	DEL	0.999:1.000	-
SH3GL1	6455	genome.wustl.edu	37	19	4364183	4364183	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr19:4364183delG	ENST00000269886.3	-	5	545	c.367delC	c.(367-369)cgcfs	p.R123fs	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Frame_Shift_Del_p.R75fs|SH3GL1_ENST00000598564.1_Intron	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	123	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCTGCCAGGCGCTTCATGGAC	0.582			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	dbGAP		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													49.0	48.0	48.0					19																	4364183		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.367delC	19.37:g.4364183delG	ENSP00000269886:p.Arg123fs		B4DRA1|E7EVZ4|M0QZV5|Q99668	Frame_Shift_Del	DEL	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,prints_SH3_domain,prints_p67phox,pfscan_BAR_dom,pfscan_SH3_domain	p.R123fs	ENST00000269886.3	37	c.367	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000141985		0.582	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	11	0.00	0	G	NM_003025		4364183	4364183	-1	no_errors	ENST00000269886	ensembl	human	known	69_37n	frame_shift_del	4	82.61	19	DEL	1.000	-
SIPA1L1	26037	genome.wustl.edu	37	14	72171448	72171448	+	Silent	SNP	T	T	C			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr14:72171448T>C	ENST00000555818.1	+	13	4005	c.3657T>C	c.(3655-3657)taT>taC	p.Y1219Y	SIPA1L1_ENST00000381232.3_Intron|SIPA1L1_ENST00000537413.1_Intron|SIPA1L1_ENST00000554874.1_Intron|SIPA1L1_ENST00000358550.2_Intron	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1219					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTTACAGTTATAGAGGACCTC	0.403																																						dbGAP											0													122.0	115.0	117.0					14																	72171448		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3657T>C	14.37:g.72171448T>C			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.Y1219	ENST00000555818.1	37	c.3657	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL	ENSG00000197555		0.403	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	65	0.00	0	T	NM_015556		72171448	72171448	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	silent	25	59.02	36	SNP	1.000	C
SMG1	23049	genome.wustl.edu	37	16	18847853	18847853	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr16:18847853A>G	ENST00000446231.2	-	47	8018	c.7606T>C	c.(7606-7608)Tat>Cat	p.Y2536H	SMG1_ENST00000389467.3_Splice_Site_p.Y2536H			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2536					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGCTCAGAATACCTAATCAGG	0.423																																						dbGAP											0													124.0	118.0	120.0					16																	18847853		1922	4136	6058	-	-	-	SO:0001630	splice_region_variant	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7605-1T>C	16.37:g.18847853A>G			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Y2536H	ENST00000446231.2	37	c.7606	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814826	0.70912	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01359	4.98;4.98	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.64402	D	0.000009	T	0.02970	0.0088	L	0.27053	0.805	0.44627	D	0.997602	P	0.51791	0.948	P	0.52267	0.694	T	0.65590	-0.6131	10	0.46703	T	0.11	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2536	Q96Q15	SMG1_HUMAN	H	2536	ENSP00000402515:Y2536H;ENSP00000374118:Y2536H	ENSP00000374118:Y2536H	Y	-	1	0	SMG1	18755354	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.268000	0.95675	2.371000	0.80710	0.533000	0.62120	TAT	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.423	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	298	0.00	0	A	NM_015092	Missense_Mutation	18847853	18847853	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	268	19.76	66	SNP	1.000	G
SMYD1	150572	genome.wustl.edu	37	2	88396144	88396146	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr2:88396144_88396146delAGA	ENST00000419482.2	+	6	814_816	c.729_731delAGA	c.(727-732)tcagaa>tca	p.E244del	SMYD1_ENST00000444564.2_In_Frame_Del_p.E231del|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	244	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GCAAGATCTCAGAAGGAGAGGAG	0.498																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.729_731delAGA	2.37:g.88396144_88396146delAGA	ENSP00000393453:p.Glu244del		A0AV30|A6NE13	In_Frame_Del	DEL	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.E244in_frame_del	ENST00000419482.2	37	c.729_731	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000115593		0.498	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	255	0.00	0	AGA	XM_097915		88396144	88396146	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	in_frame_del	190	15.49	35	DEL	0.820:0.978:0.976	-
SND1	27044	genome.wustl.edu	37	7	127326706	127326706	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr7:127326706C>T	ENST00000354725.3	+	2	312	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	40	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGGTCAGCCTCGTGGTGGGCC	0.562																																						dbGAP											0													99.0	90.0	93.0					7																	127326706		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.118C>T	7.37:g.127326706C>T	ENSP00000346762:p.Arg40Cys		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.R40C	ENST00000354725.3	37	c.118	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.791436	0.96945	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.32023	1.47	5.77	5.77	0.91146	Staphylococcal nuclease (SNase-like) (3);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	P	0.55871	0.786	T	0.19160	-1.0314	10	0.66056	D	0.02	-10.634	17.8518	0.88748	0.0:1.0:0.0:0.0	.	40	Q7KZF4	SND1_HUMAN	C	40;30	ENSP00000346762:R40C	ENSP00000346762:R40C	R	+	1	0	SND1	127113942	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	7.458000	0.80787	2.885000	0.99019	0.655000	0.94253	CGT	SND1	-	superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease	ENSG00000197157		0.562	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	151	0.00	0	C	NM_014390		127326706	127326706	+1	no_errors	ENST00000354725	ensembl	human	known	69_37n	missense	128	17.83	28	SNP	1.000	T
SP100	6672	genome.wustl.edu	37	2	231379957	231379957	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr2:231379957G>C	ENST00000264052.5	+	25	2597	c.2242G>C	c.(2242-2244)Gaa>Caa	p.E748Q	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	748					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|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 transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTATGAAAGAGAAATGAAAAC	0.413																																						dbGAP											0													50.0	55.0	53.0					2																	231379957		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2242G>C	2.37:g.231379957G>C	ENSP00000264052:p.Glu748Gln		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily	p.E748Q	ENST00000264052.5	37	c.2242	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212551	0.39102	.	.	ENSG00000067066	ENST00000264052	T	0.22539	1.95	0.158	0.158	0.14942	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.40743	0.1129	M	0.87547	2.89	0.80722	D	1	P	0.48350	0.909	P	0.58873	0.847	T	0.32268	-0.9913	9	0.66056	D	0.02	.	6.0348	0.19702	5.0E-4:0.0:0.9995:0.0	.	748	P23497	SP100_HUMAN	Q	748	ENSP00000264052:E748Q	ENSP00000264052:E748Q	E	+	1	0	SP100	231088201	1.000000	0.71417	0.025000	0.17156	0.025000	0.11179	6.536000	0.73842	0.202000	0.20498	0.205000	0.17691	GAA	SP100	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000067066		0.413	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	225	0.00	0	G	NM_003113		231379957	231379957	+1	no_errors	ENST00000264052	ensembl	human	known	69_37n	missense	271	15.84	51	SNP	1.000	C
STAU1	6780	genome.wustl.edu	37	20	47734496	47734496	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr20:47734496C>T	ENST00000371856.2	-	11	1737	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	STAU1_ENST00000371792.1_Missense_Mutation_p.A360T|STAU1_ENST00000340954.7_Missense_Mutation_p.A362T|STAU1_ENST00000371802.1_Missense_Mutation_p.A368T|STAU1_ENST00000371828.3_Missense_Mutation_p.A368T|STAU1_ENST00000360426.4_Missense_Mutation_p.A362T|STAU1_ENST00000347458.5_Missense_Mutation_p.A362T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	443					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GGATTCGGAGCTGCCCTGGTA	0.537																																						dbGAP											0													138.0	132.0	134.0					20																	47734496		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1327G>A	20.37:g.47734496C>T	ENSP00000360922:p.Ala443Thr		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.A443T	ENST00000371856.2	37	c.1327	CCDS13414.1	20	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904412	0.52333	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.81	5.81	0.92471	.	0.099783	0.64402	D	0.000002	T	0.21761	0.0524	N	0.19112	0.55	0.80722	D	1	P;B	0.41420	0.749;0.038	B;B	0.35039	0.194;0.033	T	0.02378	-1.1168	10	0.25106	T	0.35	-12.2812	20.0795	0.97766	0.0:1.0:0.0:0.0	.	443;368	O95793;Q5JW29	STAU1_HUMAN;.	T	368;362;443;362;362;362;368;360	ENSP00000360893:A368T;ENSP00000345425:A362T;ENSP00000360922:A443T;ENSP00000353604:A362T;ENSP00000323443:A362T;ENSP00000360867:A368T;ENSP00000360857:A360T	ENSP00000345425:A362T	A	-	1	0	STAU1	47167903	1.000000	0.71417	0.990000	0.47175	0.764000	0.43329	3.477000	0.53151	2.747000	0.94245	0.650000	0.86243	GCT	STAU1	-	NULL	ENSG00000124214		0.537	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	171	0.00	0	C	NM_017453		47734496	47734496	-1	no_errors	ENST00000371856	ensembl	human	known	69_37n	missense	113	33.92	58	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64516385	64516386	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr14:64516385_64516386delAG	ENST00000344113.4	+	47	7646_7647	c.7434_7435delAG	c.(7432-7437)acagaafs	p.E2479fs	SYNE2_ENST00000554584.1_Frame_Shift_Del_p.E2512fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.E2479fs|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2479					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAACAAACAGAATGTCTTAA	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7434_7435delAG	14.37:g.64516385_64516386delAG	ENSP00000341781:p.Glu2479fs		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2479fs	ENST00000344113.4	37	c.7434_7435	CCDS41963.1	14																																																																																			SYNE2	-	NULL	ENSG00000054654		0.371	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	133	0.00	0	AG	NM_182914		64516385	64516386	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	frame_shift_del	239	19.19	57	DEL	0.000:0.000	-
TBX3	6926	genome.wustl.edu	37	12	115118832	115118832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr12:115118832C>T	ENST00000257566.3	-	2	898	c.509G>A	c.(508-510)tGg>tAg	p.W170*	TBX3_ENST00000349155.2_Nonsense_Mutation_p.W170*	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	170					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGCCACCATCCACCGAGAATT	0.463																																						dbGAP											0													112.0	113.0	113.0					12																	115118832		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.509G>A	12.37:g.115118832C>T	ENSP00000257566:p.Trp170*		Q8TB20|Q9UKF8	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.W170*	ENST00000257566.3	37	c.509	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	C	47	13.169264	0.99724	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0715	0.93140	0.0:1.0:0.0:0.0	.	.	.	.	X	170	.	ENSP00000257566:W170X	W	-	2	0	TBX3	113603215	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	TGG	TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.463	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	217	0.00	0	C	NM_016569, NM_005996		115118832	115118832	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	nonsense	86	25.00	29	SNP	1.000	T
TCF7	6932	genome.wustl.edu	37	5	133477961	133477961	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr5:133477961G>T	ENST00000321584.4	+	6	917	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	TCF7_ENST00000342854.5_Missense_Mutation_p.G241W|TCF7_ENST00000520958.1_Missense_Mutation_p.G126W|TCF7_ENST00000378560.4_Missense_Mutation_p.G126W|TCF7_ENST00000395023.1_Missense_Mutation_p.G126W|TCF7_ENST00000321603.6_Missense_Mutation_p.G241W|TCF7_ENST00000378564.1_Missense_Mutation_p.G241W|TCF7_ENST00000518915.1_Missense_Mutation_p.G126W|TCF7_ENST00000395029.1_Missense_Mutation_p.G241W|TCF7_ENST00000432532.2_Missense_Mutation_p.G126W			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	241					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCCCCTCAGGGAAGCAGGA	0.607																																						dbGAP											0													67.0	62.0	63.0					5																	133477961		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.721G>T	5.37:g.133477961G>T	ENSP00000326540:p.Gly241Trp		B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G241W	ENST00000321584.4	37	c.721		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.675696|4.675696	0.88445|0.88445	.|.	.|.	ENSG00000081059|ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000517851;ENST00000521639;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037;ENST00000517799|ENST00000517855	D;D;D;D;D;D;D;D;D;D;T;D|.	0.99214|.	-5.55;-5.54;-5.54;-5.56;-5.53;-5.56;-5.56;-5.57;-5.55;-5.57;0.87;-5.54|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.102262|.	0.64402|.	D|.	0.000003|.	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.997;0.998;1.0;1.0|.	D;D;D;D;D;D|.	0.87578|.	0.993;0.998;0.947;0.914;0.996;0.998|.	T|T	0.69877|0.69877	-0.5026|-0.5026	10|5	0.72032|.	D|.	0.01|.	.|.	19.6516|19.6516	0.95815|0.95815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	55;241;241;39;241;241|.	B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5|.	.;.;.;.;TCF7_HUMAN;.|.	W|M	241;241;241;241;241;241;157;126;126;126;126;126;126;101;19|29	ENSP00000340347:G241W;ENSP00000326654:G241W;ENSP00000326540:G241W;ENSP00000367827:G241W;ENSP00000378472:G241W;ENSP00000367822:G126W;ENSP00000397946:G126W;ENSP00000429547:G126W;ENSP00000430179:G126W;ENSP00000378469:G126W;ENSP00000429696:G101W;ENSP00000427968:G19W|.	ENSP00000326540:G241W|.	G|R	+|+	1|2	0|0	TCF7|TCF7	133505860|133505860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.869000|9.869000	0.99810|0.99810	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGG|AGG	TCF7	-	NULL	ENSG00000081059		0.607	TCF7-201	KNOWN	basic	protein_coding	TCF7	HGNC	protein_coding		110	0.00	0	G	NM_201634		133477961	133477961	+1	no_errors	ENST00000321584	ensembl	human	known	69_37n	missense	63	37.62	38	SNP	1.000	T
TEX15	56154	genome.wustl.edu	37	8	30705950	30705950	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr8:30705950C>G	ENST00000256246.2	-	1	658	c.584G>C	c.(583-585)aGt>aCt	p.S195T	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	195					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAAATGTGACTACTGTACTC	0.403																																						dbGAP											0													54.0	58.0	56.0					8																	30705950		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.584G>C	8.37:g.30705950C>G	ENSP00000256246:p.Ser195Thr			Missense_Mutation	SNP	NULL	p.S195T	ENST00000256246.2	37	c.584	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	9.697	1.153546	0.21371	.	.	ENSG00000133863	ENST00000256246	T	0.10960	2.82	5.67	-1.96	0.07525	.	0.986518	0.08267	N	0.972066	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B	0.20052	0.041	B	0.17433	0.018	T	0.41413	-0.9510	10	0.87932	D	0	.	7.3296	0.26575	0.0:0.2944:0.4292:0.2764	.	195	Q9BXT5	TEX15_HUMAN	T	195	ENSP00000256246:S195T	ENSP00000256246:S195T	S	-	2	0	TEX15	30825492	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.037000	0.12164	-0.332000	0.08489	-0.136000	0.14681	AGT	TEX15	-	NULL	ENSG00000133863		0.403	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	93	0.00	0	C			30705950	30705950	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	102	14.29	17	SNP	0.000	G
TGFBR3	7049	genome.wustl.edu	37	1	92177900	92177900	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr1:92177900C>T	ENST00000525962.1	-	12	2127	c.2066G>A	c.(2065-2067)aGc>aAc	p.S689N	TGFBR3_ENST00000212355.4_Missense_Mutation_p.S689N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S688N			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	689	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GAAGACAAAGCTGAATCGCTT	0.453																																						dbGAP											0													131.0	127.0	128.0					1																	92177900		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2066G>A	1.37:g.92177900C>T	ENSP00000436127:p.Ser689Asn		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.S689N	ENST00000525962.1	37	c.2066	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688125	0.88639	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	6.16	6.16	0.99307	Zona pellucida sperm-binding protein (3);	0.082295	0.85682	D	0.000000	D	0.90817	0.7116	M	0.78637	2.42	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.99	D	0.88790	0.3277	9	.	.	.	-23.2501	20.8598	0.99761	0.0:1.0:0.0:0.0	.	688;689	Q03167-2;Q03167	.;TGBR3_HUMAN	N	689;688;689;688	ENSP00000212355:S689N;ENSP00000359426:S688N;ENSP00000436127:S689N;ENSP00000432638:S688N	.	S	-	2	0	TGFBR3	91950488	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.458000	0.66679	2.937000	0.99478	0.650000	0.86243	AGC	TGFBR3	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000069702		0.453	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	113	0.00	0	C	NM_003243		92177900	92177900	-1	no_errors	ENST00000212355	ensembl	human	known	69_37n	missense	66	19.51	16	SNP	1.000	T
TRIM68	55128	genome.wustl.edu	37	11	4621685	4621685	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr11:4621685C>T	ENST00000300747.5	-	7	1568	c.1279G>A	c.(1279-1281)Gtg>Atg	p.V427M		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	427	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCATAATCCACGAAGATTCCC	0.567																																						dbGAP											0													97.0	82.0	87.0					11																	4621685		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1279G>A	11.37:g.4621685C>T	ENSP00000300747:p.Val427Met		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V427M	ENST00000300747.5	37	c.1279	CCDS31356.1	11	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505843	0.26949	.	.	ENSG00000167333	ENST00000300747;ENST00000544055	T	0.63096	-0.02	5.52	0.123	0.14709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.181162	0.26911	N	0.021875	T	0.64305	0.2586	M	0.73598	2.24	0.22610	N	0.998936	D	0.53885	0.963	P	0.50896	0.653	T	0.58493	-0.7627	10	0.87932	D	0	.	6.7088	0.23266	0.2239:0.2463:0.5298:0.0	.	427	Q6AZZ1	TRI68_HUMAN	M	427;148	ENSP00000300747:V427M	ENSP00000300747:V427M	V	-	1	0	TRIM68	4578261	1.000000	0.71417	0.998000	0.56505	0.353000	0.29299	0.654000	0.24918	0.112000	0.17975	-0.311000	0.09066	GTG	TRIM68	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000167333		0.567	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM68	HGNC	protein_coding	OTTHUMT00000385948.1	103	0.00	0	C	NM_018073		4621685	4621685	-1	no_errors	ENST00000300747	ensembl	human	known	69_37n	missense	40	43.66	31	SNP	0.999	T
TSIX	9383	genome.wustl.edu	37	X	73043072	73043072	+	lincRNA	SNP	G	G	A			TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chrX:73043072G>A	ENST00000604411.1	+	0	31033				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGCCAATGAGGAAGTGATTTG	0.308																																						dbGAP											0													11.0	10.0	10.0					X																	73043072		871	1981	2852	-	-	-			0					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.73043072G>A				RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.308	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	58	0.00	0	G	NR_003255		73043072	73043072	-1	no_errors	ENST00000429829	ensembl	human	known	69_37n	rna	87	36.96	51	SNP	0.000	A
ZFHX3	463	genome.wustl.edu	37	16	72830233	72830233	+	Silent	SNP	C	C	T	rs549639209		TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr16:72830233C>T	ENST00000268489.5	-	9	7020	c.6348G>A	c.(6346-6348)ccG>ccA	p.P2116P	ZFHX3_ENST00000397992.5_Silent_p.P1202P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2116					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTCCCAGCTGCGGGGGTAGCT	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13503	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													42.0	41.0	42.0					16																	72830233		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6348G>A	16.37:g.72830233C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.P2116	ENST00000268489.5	37	c.6348	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.637	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	56	0.00	0	C	NM_006885		72830233	72830233	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	0.830	T
ZNF644	84146	genome.wustl.edu	37	1	91403092	91403094	+	In_Frame_Del	DEL	TCC	TCC	-	rs149460842	byFrequency	TCGA-A8-A09R-01A-11W-A019-09	TCGA-A8-A09R-10A-01W-A021-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	35ebf91d-6fec-4d28-9b21-493d0e14f8db	1a2fb095-5cbc-40e1-92fd-60946a164d04	g.chr1:91403092_91403094delTCC	ENST00000370440.1	-	4	3853_3855	c.3636_3638delGGA	c.(3634-3639)gaggat>gat	p.E1212del	ZNF644_ENST00000337393.5_In_Frame_Del_p.E1212del|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAACGGACTATCCTCATTTAATG	0.384																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3636_3638delGGA	1.37:g.91403092_91403094delTCC	ENSP00000359469:p.Glu1212del		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	In_Frame_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1212in_frame_del	ENST00000370440.1	37	c.3638_3636	CCDS731.1	1																																																																																			ZNF644	-	NULL	ENSG00000122482		0.384	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	281	0.00	0	TCC	NM_032186		91403092	91403094	-1	no_errors	ENST00000337393	ensembl	human	known	69_37n	in_frame_del	226	18.95	54	DEL	0.997:1.000:1.000	-
