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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
DHX30	22907	broad.mit.edu	37	3	47889357	47889358	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			AT	-	AT	AT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:47889357_47889358delAT	ENST00000445061.1	+	14	2604_2605	c.2197_2198delAT	c.(2197-2199)attfs	p.I733fs	DHX30_ENST00000446256.2_Frame_Shift_Del_p.I694fs|DHX30_ENST00000348968.4_Frame_Shift_Del_p.I705fs|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Frame_Shift_Del_p.I761fs	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30			37					GGCCACCAACATTGCTGAGACT	0.535000																								0							SO:0001589	frameshift_variant			ENST00000445061.1	0	1	hg19	CCDS2759.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	0	18	249	0	59	1	9.925499e-01	2	110	0	59	2	0	0	0	0	0	0		1	0.999986	20	249	0	59	2	0	0	0	0	0	0		-19.996020	1	1	0	0		1	0	1	1	1.887303	1	0.230000	1.870000	0.168826	0.540000	0.330000	0.800000	0.530000	0.558479	0.540000	0	0.430000	0.680000
C10orf2	56652	broad.mit.edu	37	10	102748967	102748967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:102748967C>T	ENST00000311916.2	+	1	1185	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R334*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2			24		Colorectal(252;0.122)|all_hematologic(284;0.152)			CTTCTTGGTGCGACCAGGAGA	0.572000																								0							SO:0001587	stop_gained			ENST00000311916.2	0	1	hg19	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	c	22.300000	4.269486	0.804690	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	5.9	2.63	0.31362	.	0.176895	0.49916	D	0.000131	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1322	10.4927	0.44760	0.2696:0.6067:0.1237:0.0	.	.	.	.	X	334	.	ENSP00000309595:R334X	R	+	1	2	C10orf2	102738957	1	0.714170	1	0.803570	0.332000	0.286340	2.501000	0.453890	1.443000	0.475860	0.457000	3.337800e-01	CGA		TCGA-IB-A5SO-01A-11D-A32N-08	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	1	0	0	23	283	0	65	1	2.401563e-01	2	10	0	65	2		0	0	0	0	0	2	1	0.999999	23	280	0	65	2		0	0	0	0	65	2	-3.142713	1	1	121412	2	38	1	1	2	3	2.064678	0	0.230000	1.870000	0.238754	0.680000	0.430000	1.000000	0.650000	0.703523	0.680000	0	0.540000	0.870000
ADAMTS15	170689	broad.mit.edu	37	11	130319167	130319167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:130319167G>A	ENST00000299164.2	+	1	299	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15			36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			GACCTGCGACGCTGCTTCTAT	0.677000																								0							SO:0001583	missense			ENST00000299164.2	1	1	hg19	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	9.717000	1.158526	0.214540	.	.	ENSG00000166106	ENST00000299164	T	0.04551	3.6	4.63	3.69	0.42338	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.02047	0.0064	N	0.03154	-0.405	0.220960	N	0.999367	B	0.19817	0.039	B	0.16722	0.016	T	0.47598	-0.9105	9	0.17369	T	0.5	.	4.0747	0.09899	0.2047:0.2129:0.5824:0.0	.	100	Q8TE58	ATS15_HUMAN	H	100	ENSP00000299164:R100H	ENSP00000299164:R100H	R	+	2	0	ADAMTS15	129824377	7.700000e-02	0.213120	7.170000e-01	0.305850	0.993000	0.825480	0.552000	0.233760	1.245000	0.438850	0.561000	7.409900e-01	CGC		TCGA-IB-A5SO-01A-11D-A32N-08	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	1	0	0	45	383	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1.000000	44	380	0	112	2		0	0	0	0	114	2	-15.607740	1	1	0	0		1	0	0	0	1.979230	0	0.230000	1.870000	0.208145	0.880000	0.660000	1.000000	1.000000	0.881192	0.880000	1	0.760000	1.000000
PTPN5	84867	broad.mit.edu	37	11	18754215	18754215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:18754215G>A	ENST00000358540.2	-	12	1683	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	PTPN5_ENST00000396170.1_Missense_Mutation_p.A386V|PTPN5_ENST00000396167.2_Missense_Mutation_p.A386V|PTPN5_ENST00000477854.1_Missense_Mutation_p.A222V|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396171.4_Missense_Mutation_p.A418V|PTPN5_ENST00000396168.1_Missense_Mutation_p.A394V|RP11-1081L13.4_ENST00000527285.1_RNA	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)			27					ACCGTCGTACGCCACCTGCTC	0.572000											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000358540.2	1	1	hg19	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	g	6.138000	0.393746	0.116380	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.55	3.19	0.36642	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.490245	0.20026	N	0.100810	T	0.56819	0.2011	N	0.04746	-0.17	0.214160	N	0.999693	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47446	-0.9117	10	0.02654	T	1	.	4.3729	0.11256	0.6621:0.0:0.1925:0.1454	.	418;386	P54829;B3KXG7	PTN5_HUMAN;.	V	222;418;386;418;386;394	ENSP00000435056:A222V;ENSP00000351342:A418V;ENSP00000379473:A386V;ENSP00000379474:A418V;ENSP00000379470:A386V;ENSP00000379471:A394V	ENSP00000351342:A418V	A	-	2	0	PTPN5	18710791	4.530000e-01	0.257210	5.450000e-01	0.281530	0.995000	0.863560	1.154000	0.316880	0.372000	0.245910	-0.285000	9.966000e-02	GCG		TCGA-IB-A5SO-01A-11D-A32N-08	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	1	0	0	25	415	0	93	0	9.618080e-02	0	9	0	93	2		0	0	0	0	0	2	1	1.000000	24	409	0	93	2		0	0	0	0	93	2	-3.221177	1	1	121412	2	38	1	0	0	0	1.979230	0	0.230000	1.870000	0.208145	0.480000	0.310000	0.680000	0.480000	0.493100	0.480000	0	0.390000	0.580000
SLC5A12	159963	broad.mit.edu	37	11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12			35					AATGAGAACCGTTAAGAAGCC	0.403000																								0							SO:0001583	missense			ENST00000396005.3	0	1	hg19	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.500000	4.161956	0.782260	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88046	-2.33;-2.33;-2.33	5.16	5.16	0.70880	.	0.058040	0.64402	D	0.000003	D	0.91212	0.7231	L	0.46670	1.46	0.395320	D	0.968674	D;D	0.69078	0.978;0.997	P;D	0.67725	0.707;0.953	D	0.92534	0.6036	10	0.72032	D	0.01	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	198;198	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	198;198;10	ENSP00000379326:T198M;ENSP00000280467:T198M;ENSP00000435053:T10M	ENSP00000280467:T198M	T	-	2	0	SLC5A12	26682003	1	0.714170	9.360000e-01	0.375960	0.978000	0.694770	7.957000	0.878700	2.412000	0.818960	0.484000	4.762100e-01	ACG		TCGA-IB-A5SO-01A-11D-A32N-08	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	0	0	0	7	529	0	141		0	0	0	0	141	2		0	0	0	0	0	2	1	0.979798	6	523	0	141	2		0	0	0	0	141	2	-2.139137	0	1	0	0		1	0	0	0	1.979230	0	0.230000	1.870000	0.208145	0.110000	0.040000	0.220000	0.110000	0.124844	0.110000	0	0.070000	0.170000
FOSL1	8061	broad.mit.edu	37	11	65661489	65661489	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:65661489T>A	ENST00000312562.2	-	3	587	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000531493.1_Intron|FOSL1_ENST00000532401.1_Silent_p.A132A	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1			10					GCTCACCGCCTGCAGGAAGTC	0.657000																								0							SO:0001583	missense			ENST00000312562.2	0	1	hg19	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	T	27.000000	4.791078	0.903670	.	.	ENSG00000175592	ENST00000312562	T	0.56444	0.46	4.26	4.26	0.50523	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.120965	0.56097	D	0.000025	T	0.69278	0.3093	M	0.75777	2.31	0.807220	D	1.000000	D	0.71674	0.998	D	0.70487	0.969	T	0.73512	-0.3959	10	0.87932	D	0	-19.5225	11.6688	0.51389	0.0:0.0:0.0:1.0	.	134	P15407	FOSL1_HUMAN	L	134	ENSP00000310170:Q134L	ENSP00000310170:Q134L	Q	-	2	0	FOSL1	65418065	1	0.714170	1	0.803570	0.990000	0.784780	7.533000	0.819940	1.931000	0.559610	0.528000	5.322800e-01	CAG		TCGA-IB-A5SO-01A-11D-A32N-08	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	0	0	0	3	38	0	10	0	9.791946e-01	0	110	0	10	2		0	0	0	0	0	2	1	0.804735	2	38	0	10	2		0	0	0	0	10	2	-8.245490	1	0	0	0		1	0	0	0	1.979230	0	0.230000	1.870000	0.208145	0.660000	0.200000	1.000000	1.000000	0.669880	0.660000	0	0.380000	1.000000
KLC2	64837	broad.mit.edu	37	11	66029444	66029444	+	Splice_Site	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:66029444G>A	ENST00000417856.1	+	3	702		c.e3+1		RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000316924.5_Splice_Site|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394065.2_Splice_Site|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394078.1_Splice_Site|KLC2_ENST00000394067.2_Splice_Site|KLC2_ENST00000421552.1_Intron	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	p.?(1)		24					CTCCCCTAACGTGAGCTCCTA	0.632000																								1	Unknown(1)						SO:0001630	splice_region_variant			ENST00000417856.1	0	1	hg19	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	14.190000	2.461432	0.437360	.	.	ENSG00000174996	ENST00000417856;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000394078;ENST00000475757;ENST00000394065	.	.	.	4.15	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7987	0.46476	0.0:0.1934:0.8066:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLC2	65786020	3.520000e-01	0.248950	7.150000e-01	0.305520	0.343000	0.289850	2.337000	0.439470	0.897000	0.363920	0.561000	7.409900e-01	.		TCGA-IB-A5SO-01A-11D-A32N-08	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	0	0	0	4	132	0	27	0	1.563966e-03	1	1	0	27	2		0	0	0	0	0	2	1	0.891506	4	132	0	27	2		0	0	0	0	27	2	-6.702899	1	1	121408	1	33	1	0	0	0	1.979230	0	0.230000	1.870000	0.208145	0.270000	0.090000	0.570000	0.240000	0.297849	0.270000	0	0.160000	0.420000
EPS8L2	64787	broad.mit.edu	37	11	722406	722406	+	Silent	SNP	C	C	T	rs146372566		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:722406C>T	ENST00000533256.1	+	14	1440	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.V371V|EPS8L2_ENST00000530636.1_Silent_p.V355V|EPS8L2_ENST00000318562.8_Silent_p.V355V			Q9H6S3	ES8L2_HUMAN	EPS8-like 2			13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)			CCCAGATCGTCAACACCTGCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000533256.1	1	1	hg19	CCDS31328.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	1	0	0	19	228	0	69	1	9.999998e-01	155	194	0	69	2		0	0	0	0	0	2	1	0.999992	20	225	0	69	2		0	0	0	0	69	2	-19.999970	1	1	0	0		1	0	0	0	1.979230	0	0.230000	1.870000	0.208145	0.650000	0.410000	0.950000	0.640000	0.667567	0.650000	0	0.520000	0.800000
FAT3	120114	broad.mit.edu	37	11	92523233	92523233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:92523233G>A	ENST00000298047.6	+	7	4477	c.4460G>A	c.(4459-4461)aGa>aAa	p.R1487K	FAT3_ENST00000525166.1_Missense_Mutation_p.R1337K|FAT3_ENST00000409404.2_Missense_Mutation_p.R1487K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			GCCACAGATAGAGATGAGAAG	0.473000										TCGA Ovarian(4;0.039)														0							SO:0001583	missense			ENST00000298047.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.620000	1.991286	0.351310	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01685	4.69;4.69;4.69	6.17	5.27	0.74061	.	.	.	.	.	T	0.01189	0.0039	N	0.11927	0.2	0.807220	D	1.000000	B	0.21753	0.06	B	0.19666	0.026	T	0.41893	-0.9483	9	0.02654	T	1	.	11.64	0.51227	0.1347:0.0:0.8653:0.0	.	1487	Q8TDW7-3	.	K	1487;1487;1337	ENSP00000298047:R1487K;ENSP00000387040:R1487K;ENSP00000432586:R1337K	ENSP00000298047:R1487K	R	+	2	0	FAT3	92162881	1	0.714170	5.620000e-01	0.283700	0.866000	0.496080	4.904000	0.632790	1.636000	0.505260	0.655000	9.425300e-01	AGA		TCGA-IB-A5SO-01A-11D-A32N-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	40	403	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1.000000	40	400	0	112	2		0	0	0	0	113	2	-11.542060	1	1	0	0		1	0	0	0	1.979230	0	0.230000	1.870000	0.208145	0.760000	0.550000	0.990000	0.760000	0.770774	0.760000	0	0.650000	0.880000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.400000	4.409094	0.833400	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.807220	D	1.000000	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1	0.714170	1	0.803570	0.998000	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	7.788400e-01	GGT		TCGA-IB-A5SO-01A-11D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	9	77	0	26	1	9.356873e-01	13	31	0	26	2	1	1	34	461	0	283	2	1	0.994775	9	76	0	26	2	1	1	901	7113	0	26	2	-6.860924	1	1	121404	2	44	1	1	2	3	2.077328	0	0.230000	1.870000	0.240481	0.970000	0.480000	1.000000	1.000000	0.880578	0.970000	1	0.690000	1.000000
POU6F1	5463	broad.mit.edu	37	12	51586202	51586202	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:51586202G>A	ENST00000389243.4	-	9	1241	c.302C>T	c.(301-303)gCc>gTc	p.A101V	POU6F1_ENST00000550824.1_Missense_Mutation_p.A101V|POU6F1_ENST00000333640.10_Missense_Mutation_p.A101V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1			11					AGCTGGGCTGGCAATGACCAC	0.612000																								0							SO:0001583	missense			ENST00000389243.4	0	1	hg19	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	G	14.580000	2.577348	0.459020	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.86230	-2.09;-2.09;-2.09	5.69	4.75	0.60458	.	0.553568	0.20789	N	0.085655	T	0.81302	0.4794	L	0.34521	1.04	0.254960	N	0.987598	B	0.14438	0.01	B	0.04013	0.001	T	0.70342	-0.4898	10	0.40728	T	0.16	.	15.0878	0.72167	0.0:0.1424:0.8576:0.0	.	101	Q14863	PO6F1_HUMAN	V	101	ENSP00000373895:A101V;ENSP00000330190:A101V;ENSP00000448389:A101V	ENSP00000330190:A101V	A	-	2	0	POU6F1	49872469	1	0.714170	9.970000e-01	0.539660	0.980000	0.705560	3.445000	0.529210	2.695000	0.919700	0.655000	9.425300e-01	GCC		TCGA-IB-A5SO-01A-11D-A32N-08	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	0	0	0	5	480	1	128	0	8.125651e-03	0	30	1	128	3		0	0	0	0	0	2	0	0.027485	5	472	1	125	14		0	0	0	1	128	2	-2.500785	1	1	0	0		1	1	2	3	2.077328	0	0.230000	1.870000	0.240481	0.100000	0.030000	1.000000	0.090000	0.194134	0.100000	0	0.060000	0.180000
ESPL1	9700	broad.mit.edu	37	12	53663505	53663505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:53663505G>A	ENST00000257934.4	+	3	870	c.779G>A	c.(778-780)cGt>cAt	p.R260H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R260H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)			70					GAACACTGCCGTCGCTTTTGC	0.572000													Colon(53;1069 1201 2587 5382)											0							SO:0001583	missense			ENST00000257934.4	0	1	hg19	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	23.500000	4.429533	0.837760	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.15256	2.44;2.44	5.41	4.5	0.54988	.	0.131175	0.50627	D	0.000102	T	0.36663	0.0975	M	0.72118	2.19	0.376320	D	0.921717	D	0.89917	1.0	D	0.63283	0.913	T	0.18116	-1.0347	9	.	.	.	.	13.5552	0.61756	0.0776:0.0:0.9224:0.0	.	260	Q14674	ESPL1_HUMAN	H	260	ENSP00000257934:R260H;ENSP00000449831:R260H	.	R	+	2	0	ESPL1	51949772	1	0.714170	1	0.803570	0.892000	0.519520	4.064000	0.575060	2.815000	0.969180	0.561000	7.409900e-01	CGT		TCGA-IB-A5SO-01A-11D-A32N-08	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	0	0	0	6	417	0	107	0	3.093068e-04	0	2	0	107	2		0	0	0	0	0	2	1	0.964453	6	414	0	107	2		0	0	0	0	107	2	-2.885850	1	1	121412	5	38	1	1	2	3	2.077328	0	0.230000	1.870000	0.240481	0.140000	0.050000	1.000000	0.130000	0.226845	0.140000	0	0.080000	0.230000
COL4A1	1282	broad.mit.edu	37	13	110857876	110857876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:110857876C>T	ENST00000375820.4	-	16	989	c.868G>A	c.(868-870)Gga>Aga	p.G290R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G290R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 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)		CCATCTTTTCCGGGTTTGCCC	0.473000																								0							SO:0001583	missense			ENST00000375820.4	0	1	hg19	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	14.190000	2.460326	0.437360	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99353	-5.77;-5.77	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.98199	4.17	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.97186	0.9854	10	0.87932	D	0	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	290	P02462	CO4A1_HUMAN	R	279;290;290;290	ENSP00000364979:G290R;ENSP00000443348:G290R	ENSP00000364973:G279R	G	-	1	0	COL4A1	109655877	1	0.714170	1	0.803570	0.287000	0.271600	6.226000	0.722770	2.280000	0.763070	0.551000	6.891000e-01	GGA		TCGA-IB-A5SO-01A-11D-A32N-08	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3	0	0	0	9	596	0	148	0	9.952571e-01	0	629	0	148	2		0	0	0	0	0	2	1	0.993819	9	586	0	148	2		0	0	0	0	148	2	-2.185200	0	1	121412	1	31	1	1	2	3	2.119712	0	0.230000	1.870000	0.248157	0.140000	0.060000	1.000000	0.130000	0.280539	0.140000	0	0.090000	0.300000
DYNC1H1	1778	broad.mit.edu	37	14	102493761	102493761	+	Silent	SNP	A	A	G	rs8010870	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:102493761A>G	ENST00000360184.4	+	46	9092	c.8928A>G	c.(8926-8928)ctA>ctG	p.L2976L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					ATGAAGATCTACGGACAGTGT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000360184.4	1	0	hg19	CCDS9966.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	0	0	1	28	240	0	62	1	9.999934e-01	26	139	0	62	2		0	0	0	0	0	2	1	1.000000	27	237	0	62	2		0	0	0	0	62	2	-2.443248	0	1	121412	16837	76	1	1	2	3	2.063149	0	0.230000	1.870000	0.237888	0.930000	0.630000	1.000000	1.000000	0.902137	0.930000	1	0.770000	1.000000
EFS	10278	broad.mit.edu	37	14	23829227	23829227	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:23829227C>T	ENST00000216733.3	-	4	1067	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	EFS_ENST00000351354.3_Missense_Mutation_p.A61T|EFS_ENST00000429593.2_Missense_Mutation_p.A61T	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate			16	all_cancers(95;7.12e-06)				ACCCGGAGGGCGGTGGGGGGC	0.637000																								0							SO:0001583	missense			ENST00000216733.3	0	1	hg19	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	16.740000	3.207479	0.583430	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.57907	0.37;0.67;0.8	5.32	4.42	0.53409	.	0.471664	0.23237	N	0.050387	T	0.47377	0.1442	M	0.62723	1.935	0.332550	D	0.558962	P;P;P	0.52577	0.94;0.954;0.923	B;B;B	0.41619	0.259;0.361;0.198	T	0.60449	-0.7261	10	0.26408	T	0.33	-7.6625	10.4055	0.44254	0.0:0.907:0.0:0.093	.	61;61;154	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	T	154;61;61	ENSP00000216733:A154T;ENSP00000340607:A61T;ENSP00000416684:A61T	ENSP00000216733:A154T	A	-	1	0	EFS	22899067	9.810000e-01	0.347290	9.030000e-01	0.355200	0.393000	0.305370	1.155000	0.317000	1.450000	0.477170	0.563000	7.788400e-01	GCC		TCGA-IB-A5SO-01A-11D-A32N-08	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2	0	0	0	5	345	0	102	0	1.256457e-01	0	35	0	102	2		0	0	0	0	0	2	1	0.936553	5	342	0	101	2		0	0	0	0	102	2	-3.035067	1	1	0	0		1	0	1	1	1.891540	1	0.230000	1.870000	0.165719	0.120000	0.040000	0.250000	0.110000	0.134837	0.120000	0	0.070000	0.190000
AKAP6	9472	broad.mit.edu	37	14	33290803	33290803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:33290803G>A	ENST00000280979.4	+	13	3954	c.3784G>A	c.(3784-3786)Gac>Aac	p.D1262N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6			122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)		CCCTGGTTATGACGAGGAGGC	0.448000													Melanoma(49;821 1200 7288 13647 42351)											0							SO:0001583	missense			ENST00000280979.4	0	1	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	13.870000	2.367025	0.419020	.	.	ENSG00000151320	ENST00000280979	T	0.05319	3.46	6.03	6.03	0.97812	.	0.414559	0.26828	N	0.022293	T	0.05273	0.0140	N	0.14661	0.345	0.807220	D	1.000000	B	0.32245	0.361	B	0.21360	0.034	T	0.45026	-0.9289	10	0.66056	D	0.02	-10.2954	18.7374	0.91761	0.0:0.0:1.0:0.0	.	1262	Q13023	AKAP6_HUMAN	N	1262	ENSP00000280979:D1262N	ENSP00000280979:D1262N	D	+	1	0	AKAP6	32360554	1	0.714170	1	0.803570	0.876000	0.504520	5.563000	0.673520	2.861000	0.982270	0.655000	9.425300e-01	GAC		TCGA-IB-A5SO-01A-11D-A32N-08	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	0	0	0	5	192	0	38	0	1.055276e-03	0	2	0	38	2		0	0	0	0	0	2	1	0.937509	5	191	0	37	2		0	0	0	0	38	2	-6.859260	1	1	0	0		1	0	1	1	1.891540	1	0.230000	1.870000	0.165719	0.210000	0.080000	0.430000	0.200000	0.235827	0.210000	0	0.130000	0.320000
RTF1	23168	broad.mit.edu	37	15	41763442	41763442	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	p.R241R(1)		18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)			GATTATCACGGCATAAGCTAG	0.458000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000389629.4	0	1	hg19	CCDS32200.2																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	0	0	0	5	474	0	117	0	3.054074e-01	0	90	0	117	2		0	0	0	0	0	2	1	0.935401	5	467	0	116	2		0	0	0	0	117	2	-1.625385	0	1	0	0		1	1	2	3	2.072761	0	0.230000	1.870000	0.239619	0.100000	0.030000	1.000000	0.090000	0.188290	0.100000	0	0.060000	0.180000
SEMA6D	80031	broad.mit.edu	37	15	48063190	48063190	+	Silent	SNP	G	G	A	rs144939945		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:48063190G>A	ENST00000316364.5	+	19	2869	c.2430G>A	c.(2428-2430)ccG>ccA	p.P810P	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.P748P|SEMA6D_ENST00000389428.3_Silent_p.P735P|SEMA6D_ENST00000389433.2_Silent_p.P791P|SEMA6D_ENST00000537942.1_Silent_p.P748P|SEMA6D_ENST00000389432.2_Silent_p.P767P|SEMA6D_ENST00000536845.2_Silent_p.P810P|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Silent_p.P748P|SEMA6D_ENST00000354744.4_Silent_p.P754P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	p.P748P(1)|p.P810P(1)		77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)			AGTTTTTTCCGTCTAGTCCGC	0.507000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000316364.5	1	1	hg19	CCDS32225.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	1	0	0	26	391	1	98	0	9.123163e-02	0	8	1	98	2		0	0	0	0	0	2	1	0.955465	25	387	1	94	16		0	0	0	1	98	2	-6.657005	1	1	121412	5	40	1	1	2	3	2.072761	0	0.230000	1.870000	0.239619	0.560000	0.370000	1.000000	0.550000	0.601943	0.560000	0	0.450000	0.720000
UNC13C	440279	broad.mit.edu	37	15	54916007	54916007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:54916007G>A	ENST00000260323.11	+	31	6214	c.6214G>A	c.(6214-6216)Gac>Aac	p.D2072N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D2070N|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000545554.1_Missense_Mutation_p.D2072N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)			121					TGCTATTAATGACCTAAACTG	0.368000																								0							SO:0001583	missense			ENST00000260323.11	1	1	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	8.260000	0.811040	0.165370	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.75367	-0.93;-0.93;-0.93	5.53	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.344021	0.33419	N	0.004929	T	0.57227	0.2039	N	0.20357	0.565	0.342890	D	0.683087	B	0.06786	0.001	B	0.04013	0.001	T	0.59915	-0.7364	10	0.31617	T	0.26	.	9.1177	0.36769	0.2002:0.0:0.7998:0.0	.	2072	Q8NB66	UN13C_HUMAN	N	2072;2072;2070	ENSP00000260323:D2072N;ENSP00000438156:D2072N;ENSP00000442569:D2070N	ENSP00000260323:D2072N	D	+	1	0	UNC13C	52703299	1	0.714170	9.970000e-01	0.539660	0.333000	0.286660	4.974000	0.637710	1.196000	0.431290	0.563000	7.788400e-01	GAC		TCGA-IB-A5SO-01A-11D-A32N-08	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	0	11	89	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.998651	11	89	0	36	2		0	0	0	0	36	2	-17.842960	1	1	0	0		1	1	2	3	2.072761	0	0.230000	1.870000	0.239619	0.990000	0.540000	1.000000	1.000000	0.904033	0.990000	1	0.740000	1.000000
CCNB2	9133	broad.mit.edu	37	15	59409031	59409031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:59409031G>A	ENST00000288207.2	+	6	931	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	CCNB2_ENST00000559622.1_Missense_Mutation_p.R166Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2			9					TCCCAAATCCGAGAAATGGAA	0.413000																								0							SO:0001583	missense			ENST00000288207.2	0	1	hg19	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	16.810000	3.225727	0.586680	.	.	ENSG00000157456	ENST00000288207	T	0.10960	2.82	5.28	4.35	0.52113	Cyclin, N-terminal (1);Cyclin-like (3);	0.118236	0.53938	D	0.000046	T	0.16727	0.0402	M	0.70842	2.15	0.525010	D	0.999952	P;P	0.43826	0.812;0.818	B;B	0.40782	0.163;0.34	T	0.02617	-1.1133	10	0.72032	D	0.01	.	14.4633	0.67467	0.0:0.0:0.8518:0.1482	.	247;247	Q53HG9;O95067	.;CCNB2_HUMAN	Q	247	ENSP00000288207:R247Q	ENSP00000288207:R247Q	R	+	2	0	CCNB2	57196323	1	0.714170	1	0.803570	0.997000	0.918780	4.381000	0.595870	1.318000	0.451700	0.650000	8.624300e-01	CGA		TCGA-IB-A5SO-01A-11D-A32N-08	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	0	0	0	7	482	0	110	0	2.790772e-01	0	64	0	110	2		0	0	0	0	0	2	1	0.980325	8	478	0	109	2		0	0	0	0	110	2	-2.196000	0	1	0	0		1	1	2	3	2.072761	0	0.230000	1.870000	0.239619	0.130000	0.050000	1.000000	0.130000	0.218748	0.130000	0	0.090000	0.220000
EFTUD1	79631	broad.mit.edu	37	15	82530841	82530841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:82530841G>A	ENST00000268206.7	-	7	706	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	EFTUD1_ENST00000359445.3_Missense_Mutation_p.L129F	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1			32					GAAGTAAAAAGAGTCCCTGTG	0.453000																								0							SO:0001583	missense			ENST00000268206.7	0	1	hg19	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	G	13.720000	2.320203	0.410960	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.77229	-1.08;-1.08	4.49	4.49	0.54785	Protein synthesis factor, GTP-binding (1);	0.000000	0.47093	U	0.000251	T	0.81706	0.4879	L	0.38692	1.165	0.584320	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.76184	-0.3052	10	0.13470	T	0.59	-0.0792	17.7897	0.88548	0.0:0.0:1.0:0.0	.	129;180	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	F	180;129	ENSP00000268206:L180F;ENSP00000352418:L129F	ENSP00000268206:L180F	L	-	1	0	EFTUD1	80317896	1	0.714170	1	0.803570	0.966000	0.646010	4.644000	0.613970	2.501000	0.843560	0.405000	2.747000e-01	CTT		TCGA-IB-A5SO-01A-11D-A32N-08	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	0	0	0	8	93	0	24	1	2.189100e-01	3	7	0	24	2		0	0	0	0	0	2	1	0.973788	8	70	0	24	2		0	0	0	0	24	2	-13.375620	1	1	0	0		1	1	2	3	2.072761	0	0.230000	1.870000	0.239619	0.740000	0.350000	1.000000	1.000000	0.748493	0.740000	0	0.520000	1.000000
MAPK8IP3	23162	broad.mit.edu	37	16	1814146	1814146	+	Silent	SNP	C	C	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:1814146C>A	ENST00000250894.4	+	18	2210	c.2053C>A	c.(2053-2055)Cgg>Agg	p.R685R	MAPK8IP3_ENST00000356010.5_Silent_p.R679R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3			42					GGAGGACACGCGGATGAAGAA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000250894.4	0	1	hg19	CCDS10442.2																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	0	0	0	6	239	0	43	0	7.651603e-01	0	110	0	43	2		0	0	0	0	0	2	1	0.964167	6	236	0	42	2		0	0	0	0	43	2	-3.549492	1	1	0	0		1	0	1	1	2.030129	0	0.230000	1.870000	0.228225	0.220000	0.090000	0.430000	0.210000	0.242490	0.220000	0	0.140000	0.330000
PPL	5493	broad.mit.edu	37	16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin			62					GGGTCTGGCCGCACGATCTCC	0.627000																								0							SO:0001583	missense			ENST00000345988.2	0	1	hg19	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.900000	4.222315	0.794640	.	.	ENSG00000118898	ENST00000345988	T	0.56941	0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.73598	2.24	0.807220	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	T	0.76473	-0.2946	10	0.87932	D	0	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1179	O60437	PEPL_HUMAN	W	1179	ENSP00000340510:R1179W	ENSP00000340510:R1179W	R	-	1	2	PPL	4875122	1	0.714170	1	0.803570	0.771000	0.436740	5.493000	0.668990	2.677000	0.911610	0.561000	7.409900e-01	CGG		TCGA-IB-A5SO-01A-11D-A32N-08	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	0	0	0	6	474	0	130	0	6.154226e-01	0	154	0	130	2		0	0	0	0	0	2	1	0.964034	6	469	0	129	2		0	0	0	0	130	2	-2.417411	0	1	0	0		1	0	1	1	2.030129	0	0.230000	1.870000	0.228225	0.110000	0.040000	0.220000	0.110000	0.125109	0.110000	0	0.070000	0.170000
NUTF2	10204	broad.mit.edu	37	16	67904796	67904796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:67904796G>A	ENST00000219169.4	+	5	647	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	NUTF2_ENST00000568396.2_Missense_Mutation_p.A122T|NUTF2_ENST00000569436.2_Missense_Mutation_p.A122T|EDC4_ENST00000358933.5_5'Flank	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2			4		Ovarian(137;0.0563)			GTTCAGGCTCGCCCTGCACAA	0.517000																								0							SO:0001583	missense			ENST00000219169.4	1	1	hg19	CCDS10848.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.700000	4.031459	0.755040	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.35	5.35	0.76521	.	0.053987	0.64402	D	0.000001	T	0.61751	0.2372	M	0.82323	2.585	0.807220	D	1.000000	B	0.33583	0.418	B	0.18561	0.022	T	0.63712	-0.6575	9	0.14252	T	0.57	-33.3308	18.6568	0.91456	0.0:0.0:1.0:0.0	.	122	P61970	NTF2_HUMAN	T	122	.	ENSP00000219169:A122T	A	+	1	0	NUTF2	66462297	1	0.714170	1	0.803570	0.996000	0.888480	6.263000	0.725210	2.500000	0.843290	0.655000	9.425300e-01	GCC		TCGA-IB-A5SO-01A-11D-A32N-08	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1	1	0	1	13	241	0	64	1	9.999987e-01	79	449	0	64	2		0	0	0	0	0	2	1	0.999549	12	240	0	64	2		0	0	0	0	64	2	-4.479433	1	1	0	0		1	0	1	1	2.030129	0	0.230000	1.870000	0.228225	0.450000	0.250000	0.710000	0.430000	0.468146	0.450000	0	0.340000	0.580000
FOXC2	2303	broad.mit.edu	37	16	86601494	86601494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:86601494G>A	ENST00000320354.4	+	1	638	c.553G>A	c.(553-555)Gag>Aag	p.E185K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)			15					CCACCTCAAGGAGCCGCCCCC	0.682000									Late-onset Hereditary Lymphedema															0							SO:0001583	missense	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	ENST00000320354.4	0	1	hg19	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	g	15.190000	2.758706	0.494680	.	.	ENSG00000176692	ENST00000320354	D	0.95001	-3.58	4.23	4.23	0.50019	.	1.447760	0.04727	U	0.420400	D	0.91935	0.7446	L	0.39898	1.24	0.480870	D	0.999582	B	0.11235	0.004	B	0.09377	0.004	T	0.70608	-0.4825	10	0.11182	T	0.66	.	15.2735	0.73723	0.0:0.0:1.0:0.0	.	185	Q99958	FOXC2_HUMAN	K	185	ENSP00000326371:E185K	ENSP00000326371:E185K	E	+	1	0	FOXC2	85158995	1	0.714170	1	0.803570	0.772000	0.437240	5.154000	0.648940	1.917000	0.555160	0.553000	6.901800e-01	GAG		TCGA-IB-A5SO-01A-11D-A32N-08	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	0	0	0	5	232	0	52	0	1.005082e-02	0	6	0	52	2		0	0	0	0	0	2	1	0.936095	5	229	0	52	2		0	0	0	0	52	2	-6.701517	1	1	119448	1	27	1	0	1	1	2.030129	0	0.230000	1.870000	0.228225	0.190000	0.070000	0.400000	0.180000	0.214705	0.190000	0	0.120000	0.300000
MAPT	4137	broad.mit.edu	37	17	44060672	44060672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:44060672C>T	ENST00000571987.1	+	5	502	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.R168C|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168C|MAPT_ENST00000415613.2_Missense_Mutation_p.R168C			P10636	TAU_HUMAN	microtubule-associated protein tau			38		Melanoma(429;0.216)		Docetaxel(DB01248)|Paclitaxel(DB01229)	AGAGGCCACACGCCAACCTTC	0.692000																								0							SO:0001583	missense			ENST00000571987.1	0	1	hg19	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	13.270000	2.188535	0.386090	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10382	2.88;2.88;2.88	4.03	-2.5	0.06384	.	2.448770	0.01389	N	0.013192	T	0.05777	0.0151	N	0.08118	0	0.093100	N	1.000000	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.0	T	0.37934	-0.9684	10	0.52906	T	0.07	4.9526	4.149	0.10228	0.0:0.3518:0.3326:0.3156	.	168;168	P10636-9;P10636	.;TAU_HUMAN	C	168	ENSP00000340820:R168C;ENSP00000262410:R168C;ENSP00000410838:R168C	ENSP00000262410:R168C	R	+	1	0	MAPT	41416509	0	0.058580	0	0.037020	0.427000	0.315640	-2.823000	0.007480	-0.148000	0.112340	0.561000	7.409900e-01	CGC		TCGA-IB-A5SO-01A-11D-A32N-08	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	1	0	0	5	59	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	0.932078	5	56	0	16	2		0	0	0	0	16	2	-11.928930	1	1	121062	3	26	1	1	2	3	2.061943	0	0.230000	1.870000	0.237888	0.740000	0.290000	1.000000	1.000000	0.739722	0.740000	0	0.470000	1.000000
POLR2A	5430	broad.mit.edu	37	17	7405016	7405016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7405016G>A	ENST00000322644.6	+	14	2716	c.2317G>A	c.(2317-2319)Gga>Aga	p.G773R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa			50		Prostate(122;0.173)			GGTCGTGTCCGGAGCTAAAGG	0.483000																								0							SO:0001583	missense			ENST00000322644.6	0	1	hg19	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	28.800000	4.947770	0.925930	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.97378	-4.36	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.99249	4.485	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	-6.8597	18.8608	0.92271	0.0:0.0:1.0:0.0	.	773	P24928	RPB1_HUMAN	R	729;773	ENSP00000314949:G773R	ENSP00000314949:G773R	G	+	1	0	SLC35G6	7345740	1	0.714170	9.040000e-01	0.355700	0.986000	0.746190	9.627000	0.984120	2.761000	0.948540	0.655000	9.425300e-01	GGA		TCGA-IB-A5SO-01A-11D-A32N-08	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	0	0	0	4	198	0	47	0	6.193507e-01	0	95	0	47	2		0	0	0	0	0	2	1	0.888876	4	196	0	46	2		0	0	0	0	47	2	-3.080377	1	1	0	0		1	0	1	1	1.883826	1	0.230000	1.870000	0.162588	0.170000	0.050000	0.370000	0.160000	0.190999	0.170000	0	0.100000	0.270000
PRPSAP1	5635	broad.mit.edu	37	17	74309083	74309083	+	Silent	SNP	G	G	A	rs148092431		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:74309083G>A	ENST00000446526.3	-	9	1312	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Silent_p.D186D	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1			17					TCTCCACATCGTCAATAATGT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000446526.3	1	1	hg19	CCDS11743.2																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	1	0	0	38	348	0	99	1	9.999305e-01	31	102	0	99	2		0	0	0	0	0	2	1	1.000000	37	344	0	97	2		0	0	0	0	99	2	-12.917470	1	1	121412	26	47	1	1	2	3	2.061943	0	0.230000	1.870000	0.237888	0.870000	0.630000	1.000000	1.000000	0.871956	0.870000	1	0.740000	1.000000
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	GRCh37	CM941329	TP53	M		SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.020000	2.409843	0.427150	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1	0.714170	9.970000e-01	0.539660	0.023000	0.107830	2.166000	0.424060	1.427000	0.472760	-0.140000	1.422600e-01	CGA		TCGA-IB-A5SO-01A-11D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	15	173	0	47	1	9.642332e-01	5	62	0	47	2	1	1	138	1197	0	959	2	1	0.999889	15	172	0	46	2		0	0	0	0	47	2	-2.806926	1	1	121412	1	40	1	0	1	1	1.883826	1	0.230000	1.870000	0.162588	0.630000	0.370000	0.960000	0.630000	0.653231	0.630000	0	0.490000	0.800000
DNAH17	8632	broad.mit.edu	37	17	76455199	76455199	+	Missense_Mutation	SNP	C	C	T	rs139080560	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:76455199C>T	ENST00000585328.1	-	61	9854	c.9730G>A	c.(9730-9732)Gtc>Atc	p.V3244I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.V3235I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		TAGAAGCGGACGATGTTGATG	0.637000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	14.200000	2.464303	0.437360	0.011802	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.79141	-1.24	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000022	T	0.58452	0.2123	L	0.35487	1.065	0.337270	D	0.617749	P	0.35481	0.504	B	0.29716	0.106	T	0.67601	-0.5629	10	0.09590	T	0.72	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	3244	E7EUM8	.	I	3244;3235	ENSP00000374490:V3235I	ENSP00000300671:V3244I	V	-	1	0	DNAH17	73966794	9.980000e-01	0.408360	9.910000e-01	0.477400	0.991000	0.796840	3.678000	0.546270	2.491000	0.840630	0.655000	9.425300e-01	GTC		TCGA-IB-A5SO-01A-11D-A32N-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	0	0	0	78	857	1	257	0	0	0	1	1	257	2		0	0	0	0	0	2	1	1.000000	78	847	1	252	14		0	0	0	1	257	2	-17.904050	1	0	121406	130	58	1	1	2	3	2.061943	0	0.230000	1.870000	0.237888	0.730000	0.580000	1.000000	0.730000	0.757204	0.730000	0	0.650000	0.850000
FCGBP	8857	broad.mit.edu	37	19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		TGGATGGGCCGCAGCAGTGTC	0.597000																								0							SO:0001583	missense			ENST00000221347.6	0	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	6.404000	0.442631	0.121640	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.13	-8.27	0.01017	.	0.899723	0.09194	N	0.835531	T	0.04137	0.0115	N	0.00926	-1.1	0.093100	N	1.000000	B	0.12630	0.006	B	0.04013	0.001	T	0.45991	-0.9223	10	0.37606	T	0.19	.	8.3971	0.32564	0.6469:0.0:0.1439:0.2092	.	134	Q9Y6R7	FCGBP_HUMAN	W	134	ENSP00000221347:R134W	ENSP00000221347:R134W	R	-	1	2	FCGBP	45125709	0	0.058580	0	0.037020	0.294000	0.273930	-0.060000	0.117120	-1.660000	0.014860	0.655000	9.425300e-01	CGG		TCGA-IB-A5SO-01A-11D-A32N-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	0	0	4	191	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	0.888803	4	189	0	59	2		0	0	0	0	60	2	-3.486999	1	1	121412	12	40	1	1	2	3	2.086413	0	0.230000	1.870000	0.242201	0.210000	0.060000	1.000000	0.180000	0.307651	0.210000	0	0.120000	0.400000
PSG7	5676	broad.mit.edu	37	19	43441294	43441294	+	RNA	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:43441294C>T	ENST00000406070.2	-	0	31				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)					Prostate(69;0.00682)			TTCCTGAGCACGGCTGTCAGC	0.617000																								0											ENST00000406070.2	0	1	hg19																																																																																					TCGA-IB-A5SO-01A-11D-A32N-08	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	0	0	0	25	181	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	25	179	0	55	2		0	0	0	0	55	2	-6.057421	1	1	0	0		1	1	2	3	2.086413	0	0.230000	1.870000	0.242201	0.990000	0.730000	1.000000	1.000000	0.963390	0.990000	1	0.890000	1.000000
TMEM143	55260	broad.mit.edu	37	19	48837419	48837419	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:48837419C>G	ENST00000293261.3	-	7	1327	c.1011G>C	c.(1009-1011)gaG>gaC	p.E337D	TMEM143_ENST00000541566.1_Missense_Mutation_p.E227D|TMEM143_ENST00000436660.2_Missense_Mutation_p.E272D|TMEM143_ENST00000377431.2_Missense_Mutation_p.E237D|TMEM143_ENST00000435956.3_Missense_Mutation_p.E302D	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143			14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)			TGTGCGCCAGCTCCAACGCCT	0.701000											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000293261.3	0	1	hg19	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	11.210000	1.571313	0.280030	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.50548	0.74;0.76;0.75	4.02	1.82	0.25136	.	0.104192	0.39274	N	0.001413	T	0.33294	0.0858	L	0.47716	1.5	0.276860	N	0.946273	B;B;B;B	0.15930	0.015;0.0;0.004;0.001	B;B;B;B	0.17979	0.02;0.002;0.015;0.004	T	0.17745	-1.0359	10	0.18710	T	0.47	-14.1542	5.1988	0.15252	0.0:0.6356:0.1716:0.1929	.	272;237;302;337	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	D	337;237;302;272;227	ENSP00000293261:E337D;ENSP00000397038:E302D;ENSP00000444275:E227D	ENSP00000293261:E337D	E	-	3	2	TMEM143	53529231	1	0.714170	1	0.803570	0.273000	0.266830	0.755000	0.264050	0.299000	0.226610	0.313000	2.088700e-01	GAG		TCGA-IB-A5SO-01A-11D-A32N-08	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	1	0	1	8	61	0	17	1	6.245019e-01	5	12	0	17	2		0	0	0	0	0	2	1	0.990252	8	60	0	17	2		0	0	0	0	17	2	-14.738920	1	1	0	0		1	1	2	3	2.086413	0	0.230000	1.870000	0.242201	0.990000	0.510000	1.000000	1.000000	0.914492	0.990000	1	0.760000	1.000000
PSMB4	5692	broad.mit.edu	37	1	151372521	151372521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:151372521G>A	ENST00000290541.6	+	2	259	c.205G>A	c.(205-207)Gca>Aca	p.A69T		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4			14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		GGTGATTGCCGCAGACATGCT	0.582000																								0							SO:0001583	missense			ENST00000290541.6	0	1	hg19	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	37.000000	6.114497	0.972960	.	.	ENSG00000159377	ENST00000290541	T	0.41758	0.99	5.34	5.34	0.76211	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.66378	2.025	0.807220	D	1.000000	D;D	0.89917	1.0;0.999	D;P	0.70487	0.969;0.846	T	0.59899	-0.7367	10	0.66056	D	0.02	-10.9451	17.6208	0.88080	0.0:0.0:1.0:0.0	.	69;69	B4DFL3;P28070	.;PSB4_HUMAN	T	69	ENSP00000290541:A69T	ENSP00000290541:A69T	A	+	1	0	PSMB4	149639145	1	0.714170	8.810000e-01	0.345550	0.995000	0.863560	9.355000	0.970870	2.502000	0.843850	0.561000	7.409900e-01	GCA		TCGA-IB-A5SO-01A-11D-A32N-08	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	0	0	0	5	527	0	120	0	9.928319e-01	0	1049	0	120	2		0	0	0	0	0	2	1	0.936566	5	523	0	120	2		0	0	0	0	120	2	-2.160619	0	1	0	0		1	0	0	0	1.976688	0	0.230000	1.870000	0.206267	0.080000	0.020000	0.170000	0.080000	0.094100	0.080000	0	0.050000	0.130000
CSMD2	114784	broad.mit.edu	37	1	34011733	34011733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:34011733G>A	ENST00000373381.4	-	57	9180	c.9004C>T	c.(9004-9006)Cgc>Tgc	p.R3002C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2			246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)			CAGCTGAAGCGCATCACAGTG	0.612000																								0							SO:0001583	missense			ENST00000373381.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.580000	3.854909	0.717190	.	.	ENSG00000121904	ENST00000373381	T	0.66815	-0.23	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.213233	0.38217	N	0.001762	D	0.84005	0.5377	M	0.93678	3.445	0.807220	D	1.000000	D;D	0.76494	0.994;0.999	P;D	0.70487	0.832;0.969	D	0.85887	0.1426	10	0.48119	T	0.1	.	10.9638	0.47399	0.0:0.0:0.7096:0.2904	.	2858;3002	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	3002	ENSP00000362479:R3002C	ENSP00000241312:R2858C	R	-	1	0	CSMD2	33784320	1	0.714170	9.950000e-01	0.509660	0.865000	0.495280	3.711000	0.548680	2.591000	0.875370	0.650000	8.624300e-01	CGC		TCGA-IB-A5SO-01A-11D-A32N-08	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	21	192	0	64	1	1.210693e-01	2	4	0	64	2		0	0	0	0	0	2	1	0.999998	21	189	0	64	2		0	0	0	0	64	2	-3.318813	1	1	0	0		1	0	0	0	1.989740	0	0.230000	1.870000	0.211873	0.830000	0.540000	1.000000	1.000000	0.833104	0.830000	0	0.670000	1.000000
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3			11					TGGTCTCATGCCGCTGCCGTA	0.562000																								0							SO:0001583	missense			ENST00000371320.3	0	1	hg19	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.800000	4.676502	0.884450	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.807220	D	1.000000	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1	0.714170	1	0.803570	0.995000	0.863560	6.969000	0.760920	2.493000	0.841230	0.479000	4.491300e-01	GGC		TCGA-IB-A5SO-01A-11D-A32N-08	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	0	0	0	7	930	0	315	0	5.130608e-01	0	211	0	315	2		0	0	0	0	0	2	1	0.979464	7	915	0	311	2		0	0	0	0	315	2	-1.721604	0	1	0	0		1	0	0	0	1.989740	0	0.230000	1.870000	0.211873	0.060000	0.020000	0.130000	0.070000	0.072092	0.060000	0	0.040000	0.100000
WLS	79971	broad.mit.edu	37	1	68615942	68615942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:68615942C>T	ENST00000262348.4	-	6	1154	c.901G>A	c.(901-903)Gac>Aac	p.D301N	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.D210N|WLS_ENST00000354777.2_Missense_Mutation_p.D299N|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.D301N	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator			20					TGTCGGATGTCACCAAACAGC	0.512000																								0							SO:0001583	missense			ENST00000262348.4	1	1	hg19	CCDS642.1	.	.	.	.	.	.	.	.	.	.	C	34.000000	5.309247	0.956290	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.76838	2.35	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.68032	-0.5516	10	0.51188	T	0.08	-33.6655	18.0034	0.89203	0.0:1.0:0.0:0.0	.	301;210;301;299	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	N	301;299;301;210	ENSP00000446112:D301N;ENSP00000346829:D299N;ENSP00000262348:D301N;ENSP00000360015:D210N	ENSP00000262348:D301N	D	-	1	0	WLS	68388530	1	0.714170	9.530000e-01	0.391690	0.943000	0.588930	7.298000	0.788150	2.248000	0.741660	0.563000	7.788400e-01	GAC		TCGA-IB-A5SO-01A-11D-A32N-08	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	1	0	1	47	383	0	107	1	1	31	188	0	107	2		0	0	0	0	0	2	1	1.000000	47	376	0	104	2		0	0	0	0	107	2	-16.639770	1	1	0	0		1	0	0	0	1.989740	0	0.230000	1.870000	0.211873	0.920000	0.690000	1.000000	1.000000	0.910024	0.920000	1	0.800000	1.000000
TGM6	343641	broad.mit.edu	37	20	2397961	2397961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:2397961C>T	ENST00000202625.2	+	10	1481	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TGM6_ENST00000381423.1_Missense_Mutation_p.R474C	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6			52				L-Glutamine(DB00130)	AATCTGGATCCGCAGGGCTGG	0.622000																								0							SO:0001583	missense			ENST00000202625.2	0	1	hg19	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	14.460000	2.542366	0.452800	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.80909	-1.27;-1.43	4.54	4.54	0.55810	.	0.768164	0.11873	N	0.521286	D	0.82527	0.5056	L	0.47716	1.5	0.318040	N	0.628010	D;D	0.69078	0.997;0.991	P;B	0.53861	0.736;0.332	T	0.82133	-0.0608	10	0.56958	D	0.05	-9.2741	12.6614	0.56815	0.0:1.0:0.0:0.0	.	474;474	O95932-2;O95932	.;TGM3L_HUMAN	C	474	ENSP00000202625:R474C;ENSP00000370831:R474C	ENSP00000202625:R474C	R	+	1	0	TGM6	2345961	1.870000e-01	0.232380	1.230000e-01	0.217940	0.315000	0.280870	4.094000	0.577210	2.368000	0.804030	0.563000	7.788400e-01	CGC		TCGA-IB-A5SO-01A-11D-A32N-08	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	1	0	0	6	82	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	0.965514	6	81	0	23	2		0	0	0	0	23	2	-10.554140	1	1	121412	3	27	1	0	0	0	1.986965	0	0.230000	1.870000	0.211873	0.600000	0.250000	1.000000	1.000000	0.623929	0.600000	0	0.400000	0.850000
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		CTTCGCTGCCGTGTCCTGACT	0.423000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	88	Substitution - Missense(88)						SO:0001583	missense			ENST00000371085.3	1	1	hg19	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35.000000	5.430570	0.961500	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1	0.714170	9.630000e-01	0.404240	0.936000	0.576290	9.291000	0.960700	2.596000	0.877370	0.563000	7.788400e-01	CGT		TCGA-IB-A5SO-01A-11D-A32N-08	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	0	0	0	5	210	0	47	1	1	88	4606	0	47	2	1	9.209650e-01	14	633	1	387	8	1	0.937507	5	209	0	47	2		0	0	0	0	47	2	-2.856930	1	1	121412	10	32	1	0	0	0	1.986965	0	0.230000	1.870000	0.211873	0.210000	0.070000	0.420000	0.200000	0.230858	0.210000	0	0.130000	0.320000
OPRL1	4987	broad.mit.edu	37	20	62729805	62729805	+	Silent	SNP	C	C	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:62729805C>A	ENST00000349451.3	+	6	1178	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	OPRL1_ENST00000355631.4_Silent_p.R256R|OPRL1_ENST00000336866.2_Silent_p.R256R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1			19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)				AGAGAAGGACCGGAACCTGCG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000349451.3	1	1	hg19	CCDS13556.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	0	0	0	9	387	0	100	0	9.588831e-03	0	6	0	100	2		0	0	0	0	0	2	1	0.993412	9	374	0	92	2		0	0	0	0	100	2	-2.942797	1	1	0	0		1	0	0	0	1.986965	0	0.230000	1.870000	0.211873	0.190000	0.090000	0.350000	0.190000	0.211459	0.190000	0	0.140000	0.270000
HLCS	3141	broad.mit.edu	37	21	38269180	38269180	+	Silent	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:38269180T>C	ENST00000399120.1	-	7	2661	c.1431A>G	c.(1429-1431)acA>acG	p.T477T	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Silent_p.T477T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)			24		Myeloproliferative disorder(46;0.0422)		Biotin(DB00121)	GACGCATCGTTGTGGGGGTCA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000399120.1	1	1	hg19	CCDS13647.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2	1	0	0	16	190	0	41	1	7.552221e-01	8	26	0	41	2		0	0	0	0	0	2	1	0.999942	16	189	0	41	2		0	0	0	0	41	2	-19.986980	1	1	0	0		1	1	2	3	2.057065	0	0.230000	1.870000	0.237019	0.700000	0.410000	1.000000	1.000000	0.721233	0.700000	0	0.540000	0.920000
POFUT2	23275	broad.mit.edu	37	21	46705777	46705777	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:46705777G>A	ENST00000349485.5	-	2	224	c.198C>T	c.(196-198)atC>atT	p.I66I	BX322557.10_ENST00000454115.2_RNA|POFUT2_ENST00000471540.1_5'Flank|POFUT2_ENST00000331343.7_Silent_p.I66I	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2			20					GGAGAGAGGCGATTCGGATAT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000349485.5	0	1	hg19	CCDS13719.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	0	0	0	5	515	0	114	0	1.805907e-01	0	66	0	114	2		0	0	0	0	0	2	1	0.933907	5	503	0	113	2		0	0	0	0	114	2	-2.865559	1	1	121412	6	40	1	1	2	3	2.057065	0	0.230000	1.870000	0.237019	0.090000	0.020000	1.000000	0.080000	0.158133	0.090000	0	0.050000	0.150000
RFTN2	130132	broad.mit.edu	37	2	198498522	198498522	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:198498522T>C	ENST00000295049.4	-	4	1174	c.638A>G	c.(637-639)gAa>gGa	p.E213G		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2			30					ATGAAGTTCTTCCTCAATTCC	0.408000																								0							SO:0001583	missense			ENST00000295049.4	1	1	hg19	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	17.430000	3.387682	0.619560	.	.	ENSG00000162944	ENST00000295049	T	0.33865	1.39	5.27	2.9	0.33743	.	2.309500	0.01453	N	0.015562	T	0.39462	0.1079	L	0.57536	1.79	0.346980	D	0.726430	B	0.17268	0.021	B	0.15484	0.013	T	0.33548	-0.9864	10	0.48119	T	0.1	-12.8873	8.1485	0.31126	0.0:0.1588:0.0:0.8412	.	213	Q52LD8	RFTN2_HUMAN	G	213	ENSP00000295049:E213G	ENSP00000295049:E213G	E	-	2	0	RFTN2	198206767	1	0.714170	4.310000e-01	0.267350	0.956000	0.617450	2.615000	0.463680	0.945000	0.376050	0.533000	6.212000e-01	GAA		TCGA-IB-A5SO-01A-11D-A32N-08	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	1	0	0	27	316	0	119	0	2.536066e-01	1	11	0	119	2		0	0	0	0	0	2	1	1.000000	26	313	0	119	2		0	0	0	0	119	2	-8.915772	1	1	121410	1	32	1	0	0	0	1.986160	0	0.230000	1.870000	0.210013	0.660000	0.450000	0.920000	0.660000	0.679870	0.660000	0	0.550000	0.800000
CLK1	1195	broad.mit.edu	37	2	201724929	201724929	+	Silent	SNP	G	G	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:201724929G>T	ENST00000321356.4	-	4	535	c.400C>A	c.(400-402)Cga>Aga	p.R134R	CLK1_ENST00000409769.2_5'Flank|CLK1_ENST00000434813.2_Silent_p.R176R|CLK1_ENST00000492793.1_5'Flank|Y_RNA_ENST00000516950.1_RNA	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1			33					CTTTTCCTTCGGTGACTCTTC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000321356.4	0	1	hg19	CCDS2331.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2	0	0	0	5	331	0	87	1	9.518986e-01	8	360	0	87	2		0	0	0	0	0	2	1	0.937010	5	329	0	87	2		0	0	0	0	87	2	-2.072577	0	1	0	0		1	0	0	0	1.986160	0	0.230000	1.870000	0.210013	0.130000	0.040000	0.270000	0.130000	0.148776	0.130000	0	0.080000	0.200000
ABCA12	26154	broad.mit.edu	37	2	215807679	215807679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:215807679C>T	ENST00000272895.7	-	50	7625	c.7406G>A	c.(7405-7407)tGt>tAt	p.C2469Y	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.C2151Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			AGATCCAATACATTGAAACTT	0.393000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	0	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	26.200000	4.711011	0.891120	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.97870	-4.58;-4.58	5.65	5.65	0.86999	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	L	0.58969	1.84	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99529	1.0960	10	0.87932	D	0	.	19.6795	0.95957	0.0:1.0:0.0:0.0	.	2469;2151	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	2469;2151	ENSP00000272895:C2469Y;ENSP00000374312:C2151Y	ENSP00000272895:C2469Y	C	-	2	0	ABCA12	215515924	1	0.714170	9.870000e-01	0.457990	0.971000	0.663760	7.521000	0.818320	2.821000	0.970950	0.650000	8.624300e-01	TGT		TCGA-IB-A5SO-01A-11D-A32N-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	0	0	0	4	156	0	39	0	4.084699e-02	0	10	0	39	2		0	0	0	0	0	2	1	0.888400	4	154	0	39	2		0	0	0	0	39	2	-6.383204	1	1	121390	1	26	1	0	0	0	1.986160	0	0.230000	1.870000	0.210013	0.230000	0.070000	0.490000	0.210000	0.255481	0.230000	0	0.140000	0.360000
DNMT3A	1788	broad.mit.edu	37	2	25505560	25505560	+	Silent	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:25505560T>C	ENST00000264709.3	-	4	535	c.198A>G	c.(196-198)ccA>ccG	p.P66P	DNMT3A_ENST00000406659.3_Silent_p.P66P|DNMT3A_ENST00000321117.5_Silent_p.P66P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha			1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CAGGGTCCTTTGGCGTGTCAC	0.542000			Mis, F, N, S		AML										Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0							SO:0001819	synonymous_variant			ENST00000264709.3	1	1	hg19	CCDS33157.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	1	0	0	14	289	0	85	0	2.046271e-01	0	17	0	85	2		0	0	0	0	0	2	1	0.999761	14	287	0	85	2		0	0	0	0	85	2	-15.864010	1	1	0	0		1	0	0	0	1.986160	0	0.230000	1.870000	0.210013	0.390000	0.220000	0.620000	0.390000	0.411677	0.390000	0	0.300000	0.510000
GPR128	84873	broad.mit.edu	37	3	100365497	100365497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:100365497C>T	ENST00000273352.3	+	10	1463	c.1195C>T	c.(1195-1197)Caa>Taa	p.Q399*	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Nonsense_Mutation_p.Q104*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128			56					ATATGGCTGTCAAAAAGACAA	0.398000													Pancreas(87;185 1975 7223 18722)											0							SO:0001587	stop_gained			ENST00000273352.3	0	1	hg19	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	32.000000	5.120168	0.943850	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	.	.	.	5.32	-5.99	0.02213	.	1.572660	0.03413	N	0.205109	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.2344	0.00184	0.3615:0.1523:0.1933:0.293	.	.	.	.	X	399;104	.	ENSP00000273352:Q399X	Q	+	1	0	GPR128	101848187	0	0.058580	3.000000e-03	0.115790	0.199000	0.239340	-1.251000	0.028820	-0.824000	0.042950	-0.176000	1.317100e-01	CAA		TCGA-IB-A5SO-01A-11D-A32N-08	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1	1	0	0	25	223	0	59	0	2.386741e-01	1	8	0	59	2		0	0	0	0	0	2	1	1.000000	23	221	0	59	2		0	0	0	0	59	2	-3.318801	1	1	0	0		1	1	2	3	2.038053	0	0.230000	1.870000	0.233526	0.880000	0.590000	1.000000	1.000000	0.871718	0.880000	1	0.720000	1.000000
SLC6A1	6529	broad.mit.edu	37	3	11067472	11067472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:11067472C>T	ENST00000287766.4	+	9	1284	c.863C>T	c.(862-864)gCg>gTg	p.A288V	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A110V	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1			26		Ovarian(110;0.0392)		Clobazam(DB00349)|Tiagabine(DB00906)	TGGCTGGATGCGGCAACCCAG	0.517000																								0							SO:0001583	missense			ENST00000287766.4	0	1	hg19	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	29.700000	5.030610	0.935750	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	D;D	0.91124	-2.79;-2.79	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000004	D	0.97461	0.9169	H	0.98682	4.3	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.99016	1.0816	10	0.87932	D	0	.	18.4501	0.90700	0.0:1.0:0.0:0.0	.	288	P30531	SC6A1_HUMAN	V	288;110	ENSP00000287766:A288V;ENSP00000445171:A110V	ENSP00000287766:A288V	A	+	2	0	SLC6A1	11042472	1	0.714170	9.840000e-01	0.447390	0.797000	0.450370	7.449000	0.806430	2.595000	0.876830	0.561000	7.409900e-01	GCG		TCGA-IB-A5SO-01A-11D-A32N-08	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	0	0	0	5	472	1	132	0	3.629301e-03	0	7	1	132	2		0	0	0	0	0	2	0	0.028615	5	467	1	132	14		0	0	0	1	132	2	-1.941839	0	1	0	0		1	0	1	1	1.887303	1	0.230000	1.870000	0.168826	0.080000	0.030000	0.180000	0.080000	0.099865	0.080000	0	0.050000	0.140000
TGFBR2	7048	broad.mit.edu	37	3	30715708	30715708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:30715708G>T	ENST00000295754.5	+	5	1748	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E481*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)			53					GGTGCTCTGGGAAATGACATC	0.458000																								0							SO:0001587	stop_gained			ENST00000295754.5	0	1	hg19	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	43.000000	9.989757	0.993120	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	456;481;286	.	ENSP00000295754:E456X	E	+	1	0	TGFBR2	30690712	1	0.714170	1	0.803570	0.990000	0.784780	9.869000	0.998100	2.701000	0.922440	0.650000	8.624300e-01	GAA		TCGA-IB-A5SO-01A-11D-A32N-08	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0	0	0	22	246	1	68	0	9.451447e-01	9	282	1	68	15	1	1	95	825	0	689	2	1	0.931598	22	242	1	68	14		0	0	0	1	68	2	-8.033695	1	1	0	0		1	0	1	1	1.887303	1	0.230000	1.870000	0.168826	0.650000	0.420000	0.930000	0.650000	0.672867	0.650000	0	0.530000	0.800000
CELSR3	1951	broad.mit.edu	37	3	48677390	48677390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:48677390G>A	ENST00000164024.4	-	34	9908	c.9628C>T	c.(9628-9630)Cgg>Tgg	p.R3210W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3215W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					GAGGGGTGCCGGCTAGGCACC	0.657000																								0							SO:0001583	missense			ENST00000164024.4	1	1	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	20.200000	3.946434	0.736720	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73047	-0.71;-0.71	4.92	1.72	0.24424	.	.	.	.	.	T	0.68952	0.3057	L	0.34521	1.04	0.320230	N	0.600519	D;D;D	0.71674	0.99;0.995;0.998	P;P;P	0.53490	0.727;0.661;0.661	T	0.74377	-0.3685	9	0.72032	D	0.01	.	12.4996	0.55948	0.0:0.0:0.4274:0.5726	.	3215;3210;3308	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3210;3215	ENSP00000164024:R3210W;ENSP00000445694:R3215W	ENSP00000164024:R3210W	R	-	1	2	CELSR3	48652394	9.990000e-01	0.422020	9.960000e-01	0.522420	0.912000	0.541700	2.199000	0.427150	1.035000	0.399720	0.561000	7.409900e-01	CGG		TCGA-IB-A5SO-01A-11D-A32N-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1	32	255	0	87	1	2.310148e-01	3	5	0	87	2	1	1	76	676	0	418	2	1	1.000000	32	251	0	87	2		0	0	0	0	87	2	-2.920871	1	1	120994	2	32	1	0	1	1	1.887303	1	0.230000	1.870000	0.168826	0.890000	0.630000	1.000000	1.000000	0.879673	0.890000	1	0.750000	1.000000
RBM6	10180	broad.mit.edu	37	3	50085685	50085685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:50085685T>G	ENST00000266022.4	+	7	1824	c.1565T>G	c.(1564-1566)cTa>cGa	p.L522R	RBM6_ENST00000442092.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.L390R	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6			33					CAGGGAACTCTAATGATCCAG	0.433000																								0							SO:0001583	missense			ENST00000266022.4	1	1	hg19	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	T	18.370000	3.608302	0.665580	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.10192	2.9;2.9	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.208568	0.30859	N	0.008727	T	0.29423	0.0733	M	0.71206	2.165	0.807220	D	1.000000	D;D	0.55800	0.973;0.973	D;P	0.64144	0.922;0.898	T	0.00998	-1.1486	9	.	.	.	-3.54	13.227	0.59921	0.0:0.0:0.0:1.0	.	390;522	E9PGM9;P78332	.;RBM6_HUMAN	R	522;390	ENSP00000266022:L522R;ENSP00000396466:L390R	.	L	+	2	0	RBM6	50060689	1	0.714170	1	0.803570	0.982000	0.717510	4.266000	0.588710	2.141000	0.664460	0.528000	5.322800e-01	CTA		TCGA-IB-A5SO-01A-11D-A32N-08	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	1	0	1	15	107	0	30	1	9.999134e-01	27	96	0	30	2		0	0	0	0	0	2	1	0.999902	15	106	0	30	2		0	0	0	0	30	2	-9.156553	1	1	0	0		1	0	1	1	1.887303	1	0.230000	1.870000	0.168826	0.950000	0.580000	1.000000	1.000000	0.901392	0.950000	1	0.750000	1.000000
PPP3CA	5530	broad.mit.edu	37	4	101947138	101947138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:101947138G>A	ENST00000394854.3	-	14	2133	c.1450C>T	c.(1450-1452)Ccg>Tcg	p.P484S	PPP3CA_ENST00000507176.1_Missense_Mutation_p.P386S|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P432S|PPP3CA_ENST00000523694.2_Missense_Mutation_p.P417S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P252S|PPP3CA_ENST00000394853.4_Missense_Mutation_p.P474S	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme			20					CTGCGAGGCGGCATCCTCTCA	0.468000																								0							SO:0001583	missense			ENST00000394854.3	0	1	hg19	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	G	19.900000	3.913627	0.729830	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46;3.46	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	M	0.89904	3.07	0.807220	D	1.000000	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;1.0;1.0	T	0.28650	-1.0037	10	0.87932	D	0	-9.9218	20.0473	0.97613	0.0:0.0:1.0:0.0	.	484;252;432;474;386;417	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	S	252;484;432;474;386;417	ENSP00000422781:P252S;ENSP00000378323:P484S;ENSP00000320580:P432S;ENSP00000378322:P474S;ENSP00000422990:P386S;ENSP00000429350:P417S	ENSP00000320580:P432S	P	-	1	0	PPP3CA	102166161	1	0.714170	1	0.803570	0.995000	0.863560	9.502000	0.979810	2.722000	0.931590	0.655000	9.425300e-01	CCG		TCGA-IB-A5SO-01A-11D-A32N-08	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	0	0	0	5	477	0	115	0	5.228945e-01	0	150	0	115	2		0	0	0	0	0	2	1	0.934340	6	466	0	114	2		0	0	0	0	115	2	-1.796728	0	1	0	0		1	0	0	0	1.992893	0	0.230000	1.870000	0.213724	0.090000	0.030000	0.190000	0.090000	0.104761	0.090000	0	0.050000	0.140000
ANK2	287	broad.mit.edu	37	4	114179218	114179218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:114179218C>T	ENST00000357077.4	+	12	1254	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	ANK2_ENST00000264366.6_Missense_Mutation_p.P401S|ANK2_ENST00000394537.3_Missense_Mutation_p.P401S|ANK2_ENST00000506722.1_Missense_Mutation_p.P380S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			TGGTTTTACTCCACTGCACAT	0.398000																								0							SO:0001583	missense			ENST00000357077.4	0	1	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	29.000000	4.969555	0.928550	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.78003	-1.14;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000051	D	0.88768	0.6526	M	0.75884	2.315	0.807220	D	1.000000	D;P;P;P;D	0.89917	1.0;0.63;0.911;0.635;0.998	D;P;P;B;D	0.87578	0.998;0.495;0.755;0.396;0.997	D	0.88615	0.3159	10	0.72032	D	0.01	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	401;401;401;380;380	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	380;380;380;416;401;401;401;380	ENSP00000423799:P380S;ENSP00000421011:P380S;ENSP00000421067:P380S;ENSP00000424722:P416S;ENSP00000378044:P401S;ENSP00000349588:P401S;ENSP00000264366:P401S	ENSP00000264366:P401S	P	+	1	0	ANK2	114398667	1	0.714170	1	0.803570	0.998000	0.957120	7.776000	0.855600	2.817000	0.969820	0.563000	7.788400e-01	CCA		TCGA-IB-A5SO-01A-11D-A32N-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	0	7	188	0	42	0	1.034847e-02	0	4	0	42	2		0	0	0	0	0	2	1	0.980837	7	187	0	42	2		0	0	0	0	42	2	-2.846626	1	1	0	0		1	0	0	0	1.992893	0	0.230000	1.870000	0.213724	0.320000	0.140000	0.580000	0.300000	0.339321	0.320000	0	0.210000	0.450000
NAF1	92345	broad.mit.edu	37	4	164050411	164050411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:164050411G>A	ENST00000274054.2	-	8	1316	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein			21	all_hematologic(180;0.166)	Prostate(90;0.109)			GAAAATCCTCGTGTGAATTCT	0.448000																								0							SO:0001587	stop_gained			ENST00000274054.2	0	1	hg19	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	15.350000	2.808836	0.504210	.	.	ENSG00000145414	ENST00000274054	.	.	.	4.71	-1.19	0.09585	.	0.519016	0.17234	N	0.181810	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-2.034	3.5873	0.07975	0.0796:0.3444:0.2622:0.3139	.	.	.	.	X	375	.	ENSP00000274054:R375X	R	-	1	2	NAF1	164269861	5.000000e-03	0.159910	1.000000e-03	0.086480	0.006000	0.054640	0.134000	0.159320	-0.399000	0.076680	-0.218000	1.254300e-01	CGA		TCGA-IB-A5SO-01A-11D-A32N-08	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	0	0	0	8	248	0	76	0	2.313585e-01	1	25	0	76	2		0	0	0	0	0	2	1	0.989174	8	245	0	75	2		0	0	0	0	76	2	-3.657908	1	1	0	0		1	0	0	0	1.992893	0	0.230000	1.870000	0.213724	0.270000	0.120000	0.490000	0.260000	0.292805	0.270000	0	0.190000	0.380000
CCDC110	256309	broad.mit.edu	37	4	186379493	186379493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:186379493C>T	ENST00000307588.3	-	6	2323	c.2248G>A	c.(2248-2250)Gta>Ata	p.V750I	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.V713I|CCDC110_ENST00000510617.1_Missense_Mutation_p.V750I	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	p.V750I(1)		30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)			ATGCTTCTTACGTAATTTTCT	0.284000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000307588.3	0	1	hg19	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	11.850000	1.763163	0.312280	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.28895	1.59;1.59;1.59	5.54	3.55	0.40652	.	0.441395	0.19156	N	0.121335	T	0.30386	0.0763	M	0.63428	1.95	0.093100	N	1.000000	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.50934	0.654;0.654;0.654	T	0.18871	-1.0323	10	0.14252	T	0.57	-6.4794	1.659	0.02787	0.2086:0.4783:0.1387:0.1745	.	750;713;750	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	I	713;750;750	ENSP00000377172:V713I;ENSP00000306776:V750I;ENSP00000427246:V750I	ENSP00000306776:V750I	V	-	1	0	CCDC110	186616487	2.500000e-02	0.190820	9.310000e-01	0.372120	0.983000	0.724000	0.893000	0.283360	1.471000	0.481210	0.650000	8.624300e-01	GTA		TCGA-IB-A5SO-01A-11D-A32N-08	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	1	0	0	4	72	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	0.892229	4	72	0	17	2		0	0	0	0	17	2	-3.928482	1	1	121348	6	33	1	0	0	0	1.992893	0	0.230000	1.870000	0.213724	0.480000	0.160000	0.980000	1.000000	0.515705	0.480000	0	0.290000	0.730000
SORCS2	57537	broad.mit.edu	37	4	7716916	7716916	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:7716916C>T	ENST00000507866.2	+	17	2239	c.2130C>T	c.(2128-2130)taC>taT	p.Y710Y	SORCS2_ENST00000329016.9_Silent_p.Y538Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2			42					CCAGCGACTACGGATTTGAGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000507866.2	1	1	hg19	CCDS47008.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	0	44	457	0	129	0	1.902927e-01	0	9	0	129	2		0	0	0	0	0	2	1	1.000000	42	449	0	129	2		0	0	0	0	129	2	-12.488550	1	1	120932	10	44	1	0	0	0	1.992893	0	0.230000	1.870000	0.213724	0.740000	0.550000	0.960000	0.740000	0.755469	0.740000	0	0.640000	0.860000
FAM71B	153745	broad.mit.edu	37	5	156590199	156590199	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:156590199C>T	ENST00000302938.4	-	2	1172	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	p.S359S(1)		68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		CCCCCGCCATCGAGGTGGAAG	0.572000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000302938.4	1	1	hg19	CCDS4335.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	1	0	1	21	185	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.999998	21	183	0	60	2		0	0	0	0	61	2	-9.351058	1	1	121410	2	35	1	0	0	0	1.987370	0	0.230000	1.870000	0.211873	0.860000	0.560000	1.000000	1.000000	0.853580	0.860000	1	0.700000	1.000000
UGT3A1	133688	broad.mit.edu	37	5	35954469	35954469	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:35954469C>T	ENST00000274278.3	-	7	1764	c.1407G>A	c.(1405-1407)acG>acA	p.T469T	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1			46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		GCTTGAGGTGCGTCGCTCCCC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000274278.3	1	1	hg19	CCDS3913.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	0	5	155	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	0.936468	5	153	0	49	2		0	0	0	0	49	2	-3.673073	1	1	0	0		1	0	0	0	1.987370	0	0.230000	1.870000	0.211873	0.280000	0.100000	0.560000	0.260000	0.307381	0.280000	0	0.180000	0.420000
GRIK2	2898	broad.mit.edu	37	6	102337618	102337618	+	Missense_Mutation	SNP	G	G	A	rs141189363	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:102337618G>A	ENST00000421544.1	+	11	2118	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	GRIK2_ENST00000369138.1_Missense_Mutation_p.R543H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2			83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATTTTGTACCGCAAGCCCAAT	0.468000																								0							SO:0001583	missense			ENST00000421544.1	0	1	hg19	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	23.100000	4.374924	0.825730	6.81E-4	2.33E-4	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T;T	0.54071	2.55;2.55;2.55;0.59;2.55;2.55;2.55	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.104915	0.64402	D	0.000002	T	0.45617	0.1351	M	0.69463	2.115	0.807220	D	1.000000	P;P;P	0.40875	0.731;0.611;0.731	B;B;B	0.37888	0.26;0.133;0.26	T	0.56025	-0.8047	10	0.66056	D	0.02	.	19.6182	0.95643	0.0:0.0:1.0:0.0	.	543;543;543	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	543;543;543;543;543;543;494;142	ENSP00000397026:R543H;ENSP00000405596:R543H;ENSP00000358134:R543H;ENSP00000358133:R543H;ENSP00000313276:R543H;ENSP00000358130:R494H;ENSP00000407140:R142H	ENSP00000313276:R543H	R	+	2	0	GRIK2	102444311	1	0.714170	1	0.803570	0.999000	0.989320	9.869000	0.998100	2.626000	0.889560	0.650000	8.624300e-01	CGC		TCGA-IB-A5SO-01A-11D-A32N-08	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	0	0	0	7	492	0	153	0	0	0	1	0	153	2		0	0	0	0	0	2	1	0.979601	6	485	0	153	2		0	0	0	0	153	2	-1.775606	0	1	121412	16	47	1	0	0	0	1.985308	0	0.230000	1.870000	0.210013	0.120000	0.050000	0.230000	0.120000	0.134322	0.120000	0	0.080000	0.180000
PTPRK	5796	broad.mit.edu	37	6	128306921	128306921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:128306921G>A	ENST00000368215.3	-	22	3192	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	PTPRK_ENST00000368227.3_Missense_Mutation_p.R1083W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1066W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1088W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1072W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1098W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1084W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K		PTPRK/RSPO3(10)	72					TTGACTCGCCGGATAAAGGAA	0.498000																								0							SO:0001583	missense			ENST00000368215.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.900000	4.580797	0.867480	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	H	0.94925	3.6	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.991;0.985	D	0.95321	0.8420	10	0.87932	D	0	.	20.0864	0.97801	0.0:0.0:1.0:0.0	.	1088;1072;1065;1066	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	W	1066;1083;1088;1072;1084;1065;1098	ENSP00000357209:R1066W;ENSP00000357210:R1083W;ENSP00000432973:R1088W;ENSP00000357196:R1072W;ENSP00000357193:R1084W;ENSP00000357198:R1065W;ENSP00000357190:R1098W	ENSP00000357190:R1098W	R	-	1	2	PTPRK	128348614	1	0.714170	1	0.803570	0.932000	0.569680	5.548000	0.672550	2.753000	0.944830	0.650000	8.624300e-01	CGG		TCGA-IB-A5SO-01A-11D-A32N-08	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1	0	0	0	4	162	0	37	0	8.941209e-01	0	168	0	37	2		0	0	0	0	0	2	1	0.888481	4	160	0	36	2		0	0	0	0	37	2	-2.481789	0	1	121412	1	28	1	0	0	0	1.985308	0	0.230000	1.870000	0.210013	0.220000	0.070000	0.470000	0.200000	0.246569	0.220000	0	0.130000	0.350000
MOXD1	26002	broad.mit.edu	37	6	132649632	132649632	+	Silent	SNP	G	G	A	rs145443994		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:132649632G>A	ENST00000367963.3	-	5	883	c.765C>T	c.(763-765)caC>caT	p.H255H	MOXD1_ENST00000336749.3_Silent_p.H187H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1			37	Breast(56;0.0495)				GATAGCACTCGTGGCCGGACT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000367963.3	1	1	hg19	CCDS5152.2																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	1	0	0	10	234	0	64	0	9.965837e-01	0	237	0	64	2		0	0	0	0	0	2	1	0.996927	10	232	0	61	2		0	0	0	0	64	2	-4.232748	1	1	121412	5	40	1	0	0	0	1.985308	0	0.230000	1.870000	0.210013	0.350000	0.180000	0.590000	0.340000	0.373173	0.350000	0	0.250000	0.480000
SASH1	23328	broad.mit.edu	37	6	148853965	148853965	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:148853965A>G	ENST00000367467.3	+	14	2072	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1			52		Ovarian(120;0.0169)			TGATTCCTCAACCAGCAACCG	0.557000																								0							SO:0001583	missense			ENST00000367467.3	1	1	hg19	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	6.118000	0.389937	0.115810	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.42131	0.98	5.27	2.89	0.33648	.	0.166954	0.56097	N	0.000035	T	0.07683	0.0193	N	0.11427	0.14	0.290130	N	0.886778	B;B	0.21309	0.054;0.004	B;B	0.20955	0.032;0.017	T	0.38735	-0.9647	10	0.17369	T	0.5	-14.7724	9.7654	0.40557	0.7217:0.0:0.2783:0.0	.	514;533	Q6P4R9;O94885	.;SASH1_HUMAN	A	533;294	ENSP00000356437:T533A	ENSP00000356437:T533A	T	+	1	0	SASH1	148895658	9.760000e-01	0.341440	8.930000e-01	0.350520	0.867000	0.496890	1.935000	0.401730	0.039000	0.156320	-1.139000	1.908000e-02	ACC		TCGA-IB-A5SO-01A-11D-A32N-08	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	0	0	0	9	307	0	70	0	1.333870e-01	1	19	0	70	2		0	0	0	0	0	2	1	0.994142	9	304	0	69	2		0	0	0	0	70	2	-9.822795	1	1	121412	1	30	1	0	0	0	1.985308	0	0.230000	1.870000	0.210013	0.240000	0.120000	0.430000	0.240000	0.263367	0.240000	0	0.170000	0.340000
SYNE1	23345	broad.mit.edu	37	6	152457816	152457816	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:152457816G>A	ENST00000367255.5	-	141	26197	c.25596C>T	c.(25594-25596)gaC>gaT	p.D8532D	SYNE1_ENST00000341594.5_Silent_p.D8144D|SYNE1_ENST00000265368.4_Silent_p.D8532D|SYNE1_ENST00000354674.4_Silent_p.D710D|SYNE1_ENST00000539504.1_Silent_p.D687D|SYNE1_ENST00000448038.1_Silent_p.D8484D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.D3056D|SYNE1_ENST00000423061.1_Silent_p.D8484D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		AGCACACTCGGTCCCAGCGCC	0.612000										HNSCC(10;0.0054)														0							SO:0001819	synonymous_variant			ENST00000367255.5	0	1	hg19	CCDS5236.2																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	0	5	287	0	90	0	5.078251e-01	0	88	0	90	2		0	0	0	0	0	2	1	0.924948	5	266	0	81	2		0	0	0	0	90	2	-3.316814	1	1	0	0		1	0	0	0	1.985308	0	0.230000	1.870000	0.210013	0.150000	0.050000	0.310000	0.140000	0.170752	0.150000	0	0.090000	0.230000
COG5	10466	broad.mit.edu	37	7	107002815	107002815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:107002815G>A	ENST00000347053.3	-	9	1029	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	COG5_ENST00000393603.2_Missense_Mutation_p.R327C|COG5_ENST00000297135.3_Missense_Mutation_p.R327C	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5			40					AATGAGGCACGCAAAGCTGCA	0.398000																								0							SO:0001583	missense			ENST00000347053.3	0	1	hg19	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	18.710000	3.682211	0.680420	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.32988	1.43;1.43;1.43	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.87547	2.89	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.62923	-0.6751	10	0.87932	D	0	-12.3955	8.6738	0.34167	0.0696:0.0:0.6723:0.258	.	327;327	Q9UP83;Q9UP83-2	COG5_HUMAN;.	C	327	ENSP00000334703:R327C;ENSP00000297135:R327C;ENSP00000377228:R327C	ENSP00000297135:R327C	R	-	1	0	COG5	106790051	1	0.714170	9.900000e-01	0.471750	0.616000	0.374500	5.822000	0.692650	1.540000	0.493010	0.655000	9.425300e-01	CGT		TCGA-IB-A5SO-01A-11D-A32N-08	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4	0	0	0	4	166	0	39	0	2.897549e-01	0	37	0	39	2		0	0	0	0	0	2	1	0.891327	4	166	0	39	2		0	0	0	0	39	2	-2.800004	1	1	0	0		1	0	1	1	1.898206	1	0.230000	1.870000	0.167792	0.200000	0.060000	0.440000	0.190000	0.227102	0.200000	0	0.120000	0.320000
CPA5	93979	broad.mit.edu	37	7	130008354	130008354	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:130008354G>A	ENST00000485477.1	+	12	2356	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	CPA5_ENST00000461828.1_Silent_p.P409P|CPA5_ENST00000355388.3_Silent_p.P409P|CPA5_ENST00000474905.1_Silent_p.P409P|CPA5_ENST00000466363.2_Silent_p.P409P|CPA5_ENST00000431780.2_Missense_Mutation_p.R381Q|CPA5_ENST00000393213.3_Silent_p.P409P			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5			23	Melanoma(18;0.0435)				TCCTGCTGCCGGCCACACAGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000485477.1	0	1	hg19	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	0.705000	-0.789176	0.028840	.	.	ENSG00000158525	ENST00000431780;ENST00000479492	T	0.12774	2.65	5.85	-11.7	0.00046	.	.	.	.	.	T	0.05777	0.0151	.	.	.	0.807220	D	1.000000	B	0.06786	0.001	B	0.04013	0.001	T	0.31420	-0.9944	7	.	.	.	.	8.197	0.31402	0.6118:0.1479:0.1748:0.0655	.	381	G3V0G8	.	Q	381;58	ENSP00000393045:R381Q	.	R	+	2	0	CPA5	129795590	0	0.058580	4.600000e-02	0.188390	0.006000	0.054640	-3.373000	0.004930	-3.150000	0.002310	-4.470000	5.000000e-05	CGG		TCGA-IB-A5SO-01A-11D-A32N-08	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	0	0	0	6	421	0	136	0	4.306536e-03	0	6	0	136	2		0	0	0	0	0	2	1	0.963398	6	414	0	133	2		0	0	0	0	136	2	-2.603785	1	1	121412	2	37	1	0	1	1	1.898206	1	0.230000	1.870000	0.167792	0.110000	0.040000	0.230000	0.110000	0.129761	0.110000	0	0.070000	0.180000
STK31	56164	broad.mit.edu	37	7	23792437	23792437	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:23792437A>G	ENST00000355870.3	+	9	1238	c.1119A>G	c.(1117-1119)atA>atG	p.I373M	STK31_ENST00000354639.3_Missense_Mutation_p.I350M|STK31_ENST00000428484.1_Missense_Mutation_p.I350M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.I373M	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31			67					AGATGGAAATACTGAAAGAAA	0.333000																								0							SO:0001583	missense			ENST00000355870.3	1	1	hg19	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	1.604000	-0.525678	0.041410	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.94	-4.71	0.03279	.	0.667143	0.15196	N	0.275271	T	0.05731	0.0150	N	0.20685	0.6	0.093100	N	1.000000	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.36841	-0.9731	10	0.19147	T	0.46	1.7106	5.3799	0.16186	0.3532:0.2924:0.3544:0.0	.	373;373	B4DZ06;Q9BXU1	.;STK31_HUMAN	M	373;373;350;350	ENSP00000348132:I373M;ENSP00000411852:I373M;ENSP00000346660:I350M;ENSP00000406146:I350M	ENSP00000346660:I350M	I	+	3	3	STK31	23758962	0	0.058580	2.000000e-03	0.105220	0.209000	0.243380	-1.076000	0.034200	-0.604000	0.057600	-0.376000	6.991000e-02	ATA		TCGA-IB-A5SO-01A-11D-A32N-08	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	1	0	1	16	154	0	29	0	2.860507e-02	0	3	0	29	2		0	0	0	0	0	2	1	0.999945	16	153	0	28	2		0	0	0	0	29	2	-19.999460	1	1	0	0		1	1	2	3	2.067945	0	0.230000	1.870000	0.238754	0.850000	0.500000	1.000000	1.000000	0.839022	0.850000	1	0.660000	1.000000
AUTS2	26053	broad.mit.edu	37	7	69583117	69583117	+	Splice_Site	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:69583117G>C	ENST00000342771.4	+	3	843		c.e3-1		AUTS2_ENST00000403018.2_Splice_Site|AUTS2_ENST00000406775.2_Splice_Site	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2			50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)			TTTGCCTTTAGCTCAAGCCAG	0.498000																								0							SO:0001630	splice_region_variant			ENST00000342771.4	0	1	hg19	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	24.300000	4.512937	0.853890	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2224	0.93803	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AUTS2	69221053	1	0.714170	1	0.803570	0.991000	0.796840	8.302000	0.899530	2.765000	0.950210	0.655000	9.425300e-01	.		TCGA-IB-A5SO-01A-11D-A32N-08	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	0	0	0	4	220	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	0.874074	4	205	0	49	2		0	0	0	0	49	2	-5.493321	1	0	0	0		1	1	2	3	2.067945	0	0.230000	1.870000	0.238754	0.180000	0.050000	1.000000	0.150000	0.257217	0.180000	0	0.100000	0.320000
MIOS	54468	broad.mit.edu	37	7	7625382	7625382	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:7625382G>C	ENST00000340080.4	+	7	2185	c.1764G>C	c.(1762-1764)ttG>ttC	p.L588F	MIOS_ENST00000405785.1_Missense_Mutation_p.L588F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)			32					ACCCGTATTTGTGTGTCATGT	0.383000																								0							SO:0001583	missense			ENST00000340080.4	0	1	hg19	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	14.140000	2.445831	0.434290	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.58210	0.35;0.35	5.46	-5.98	0.02220	.	0.000000	0.85682	D	0.000000	T	0.52370	0.1730	L	0.55834	1.745	0.496870	D	0.999814	D	0.54964	0.969	P	0.61592	0.891	T	0.59284	-0.7483	10	0.66056	D	0.02	-7.714	4.7574	0.13092	0.2284:0.4582:0.2193:0.0941	.	588	Q9NXC5	MIO_HUMAN	F	588	ENSP00000339881:L588F;ENSP00000384088:L588F	ENSP00000339881:L588F	L	+	3	2	MIOS	7591907	3.930000e-01	0.252370	1.130000e-01	0.215220	0.612000	0.373160	-0.341000	0.078110	-1.651000	0.015040	-0.229000	1.229400e-01	TTG		TCGA-IB-A5SO-01A-11D-A32N-08	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	0	0	0	6	403	0	85	1	2.242233e-01	4	48	0	85	2		0	0	0	0	0	2	1	0.964440	6	400	0	85	2		0	0	0	0	85	2	-3.090841	1	1	0	0		1	1	2	3	2.067945	0	0.230000	1.870000	0.238754	0.140000	0.050000	1.000000	0.130000	0.217516	0.140000	0	0.090000	0.230000
VPS13B	157680	broad.mit.edu	37	8	100833605	100833605	+	Silent	SNP	A	A	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:100833605A>T	ENST00000358544.2	+	50	9264	c.9153A>T	c.(9151-9153)acA>acT	p.T3051T	VPS13B_ENST00000357162.2_Silent_p.T3026T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		ATAACCTGACATCTCCAAAGT	0.398000													Colon(161;2205 2542 7338 31318)											0							SO:0001819	synonymous_variant			ENST00000358544.2	0	1	hg19	CCDS6280.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	0	0	5	356	0	72	1	2.768465e-02	3	12	0	72	2		0	0	0	0	0	2	1	0.937503	5	355	0	72	2		0	0	0	0	72	2	-5.769193	1	1	0	0		1	1	2	3	2.088967	0	0.230000	1.870000	0.243057	0.140000	0.040000	1.000000	0.120000	0.246512	0.140000	0	0.080000	0.260000
RP1	6101	broad.mit.edu	37	8	55539165	55539165	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:55539165C>G	ENST00000220676.1	+	4	2871	c.2723C>G	c.(2722-2724)gCt>gGt	p.A908G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)			169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		GAGGCTATTGCTCATCATTCA	0.328000													Colon(91;1014 1389 7634 14542 40420)											0							SO:0001583	missense			ENST00000220676.1	1	1	hg19	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	12.110000	1.838250	0.325130	.	.	ENSG00000104237	ENST00000220676	T	0.47869	0.83	5.65	4.76	0.60689	.	0.812455	0.10842	N	0.628097	T	0.35189	0.0923	L	0.29908	0.895	0.093100	N	0.999998	P	0.39282	0.666	B	0.33339	0.162	T	0.20273	-1.0280	10	0.72032	D	0.01	.	10.4038	0.44246	0.0:0.7852:0.137:0.0778	.	908	P56715	RP1_HUMAN	G	908	ENSP00000220676:A908G	ENSP00000220676:A908G	A	+	2	0	RP1	55701718	9.360000e-01	0.317500	3.990000e-01	0.263330	0.958000	0.622580	1.179000	0.319930	1.357000	0.459040	0.655000	9.425300e-01	GCT		TCGA-IB-A5SO-01A-11D-A32N-08	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	0	14	143	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	0.999790	13	143	0	41	2		0	0	0	0	41	2	-19.549700	1	1	0	0		1	1	2	3	2.088967	0	0.230000	1.870000	0.243057	0.830000	0.470000	1.000000	1.000000	0.819491	0.830000	0	0.620000	1.000000
TGFBR1	7046	broad.mit.edu	37	9	101900330	101900330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:101900330G>A	ENST00000374994.4	+	4	881	c.764G>A	c.(763-765)cGt>cAt	p.R255H	TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178H|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	p.R255L(1)		27		Acute lymphoblastic leukemia(62;0.0559)			GTAATGTTACGTCATGAAAAC	0.378000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000374994.4	0	1	hg19	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	24.200000	4.510468	0.853890	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	L	0.61218	1.895	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95388	0.8479	9	.	.	.	.	17.8646	0.88792	0.0:0.0:1.0:0.0	.	178;255	P36897-3;P36897	.;TGFR1_HUMAN	H	255;255;178;259;109;186	ENSP00000364133:R255H;ENSP00000364129:R178H;ENSP00000447297:R259H;ENSP00000449028:R109H;ENSP00000450052:R186H	.	R	+	2	0	TGFBR1	100940151	1	0.714170	1	0.803570	0.434000	0.317750	9.810000	0.992210	2.530000	0.853050	0.655000	9.425300e-01	CGT		TCGA-IB-A5SO-01A-11D-A32N-08	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	0	0	0	6	300	0	61	0	6.602985e-01	0	108	0	61	2	0	2.338840e-01	6	657	6	384	20	1	0.965382	6	300	0	61	2		0	0	0	0	61	2	-3.054871	1	1	0	0		1	1	2	3	2.076687	0	0.230000	1.870000	0.240481	0.190000	0.070000	1.000000	0.170000	0.275784	0.190000	0	0.120000	0.320000
ACTL7B	10880	broad.mit.edu	37	9	111617095	111617095	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:111617095G>A	ENST00000374667.3	-	1	2144	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B			20					TCTCAGGAGCGGCAGCCACTG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000374667.3	0	1	hg19	CCDS6771.1																																																																																				TCGA-IB-A5SO-01A-11D-A32N-08	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	0	0	0	4	250	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	0.876181	4	235	0	74	2		0	0	0	0	75	2	-3.923896	1	1	121220	1	31	1	1	2	3	2.076687	0	0.230000	1.870000	0.240481	0.160000	0.050000	1.000000	0.130000	0.250266	0.160000	0	0.090000	0.290000
FBXW5	54461	broad.mit.edu	37	9	139835466	139835466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139835466G>A	ENST00000325285.3	-	9	1694	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	p.R539C(1)		12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)		CGTGGGGAGCGCCAGGCTTTG	0.672000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000325285.3	0	1	hg19	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	G	25.800000	4.674100	0.884450	0.0	1.18E-4	ENSG00000159069	ENST00000325285	T	0.67345	-0.26	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.063203	0.64402	D	0.000004	T	0.80808	0.4694	M	0.71296	2.17	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	D	0.83522	0.0086	10	0.72032	D	0.01	-0.5139	16.0315	0.80582	0.0:0.0:1.0:0.0	.	404;539	Q59ET5;Q969U6	.;FBXW5_HUMAN	C	539	ENSP00000313034:R539C	ENSP00000313034:R539C	R	-	1	0	FBXW5	138955287	1	0.714170	1	0.803570	0.917000	0.548040	7.184000	0.777050	2.126000	0.654370	0.561000	7.409900e-01	CGC		TCGA-IB-A5SO-01A-11D-A32N-08	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	0	0	1	3	15	0	10	1	9.999967e-01	103	490	0	10	2		0	0	0	0	1	2	1	0.813268	3	15	0	10	2		0	0	0	0	10	2	-9.064747	1	1	0	0		1	1	2	3	2.074935	0	0.230000	1.870000	0.240481	0.990000	0.450000	1.000000	1.000000	0.934444	0.990000	1	0.840000	1.000000
ABCA2	20	broad.mit.edu	37	9	139908435	139908435	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139908435G>A	ENST00000371605.3	-	27	4440	c.4293C>T	c.(4291-4293)ggC>ggT	p.G1431G	ABCA2_ENST00000265662.5_Silent_p.G1432G|ABCA2_ENST00000341511.6_Silent_p.G1432G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2			41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		TCAGCCACCCGCCGTCCAGCT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000371605.3	1	1	hg19																																																																																					TCGA-IB-A5SO-01A-11D-A32N-08	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	9	216	0	37	0	6.703683e-01	1	54	0	37	2		0	0	0	0	0	2	1	0.993896	9	211	0	36	2		0	0	0	0	37	2	-10.803910	1	1	120222	11	40	1	1	2	3	2.074935	0	0.230000	1.870000	0.240481	0.380000	0.180000	1.000000	0.350000	0.442569	0.380000	0	0.260000	0.570000
OSTF1	26578	broad.mit.edu	37	9	77752511	77752511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:77752511G>A	ENST00000346234.6	+	8	616	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1			2					TGCAGATATCGTCCAGTTGCT	0.398000																								0							SO:0001583	missense			ENST00000346234.6	1	1	hg19	CCDS6651.1	.	.	.	.	.	.	.	.	.	.	G	28.000000	4.878070	0.916640	.	.	ENSG00000134996	ENST00000346234	T	0.71698	-0.59	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.31752	0.955	0.807220	D	1.000000	D;D	0.89917	1.0;0.959	D;P	0.78314	0.991;0.893	T	0.77313	-0.2634	10	0.45353	T	0.12	-17.9865	18.188	0.89798	0.0:0.0:1.0:0.0	.	156;156	A8K646;Q92882	.;OSTF1_HUMAN	I	156	ENSP00000340836:V156I	ENSP00000340836:V156I	V	+	1	0	OSTF1	76942331	1	0.714170	1	0.803570	0.978000	0.694770	8.757000	0.916570	2.585000	0.873010	0.563000	7.788400e-01	GTC		TCGA-IB-A5SO-01A-11D-A32N-08	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	1	0	1	21	199	0	44	1	1	67	282	0	44	2		0	0	0	0	0	2	1	0.999998	19	197	0	44	2		0	0	0	0	44	2	-8.913195	1	1	121410	3	31	1	1	2	3	2.076687	0	0.230000	1.870000	0.240481	0.860000	0.550000	1.000000	1.000000	0.853697	0.860000	1	0.690000	1.000000
SPANXD	64648	broad.mit.edu	37	X	140785682	140785682	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:140785682G>C	ENST00000370515.3	-	2	567	c.234C>G	c.(232-234)aaC>aaG	p.N78K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D			9	Acute lymphoblastic leukemia(192;7.65e-05)				TTTGGAGGGGGTTGATTCTGT	0.448000																								0							SO:0001583	missense			ENST00000370515.3	1	1	hg19	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	8.302000	0.820191	0.166780	.	.	ENSG00000196406	ENST00000370515	T	0.09445	2.98	.	.	.	.	.	.	.	.	T	0.25457	0.0619	.	.	.	0.093100	N	1.000000	D	0.69078	0.997	D	0.81914	0.995	T	0.06789	-1.0807	6	0.72032	D	0.01	.	.	.	.	.	78	Q9BXN6	SPNXD_HUMAN	K	78	ENSP00000359546:N78K	ENSP00000359546:N78K	N	-	3	2	SPANXD	140613348	5.500000e-02	0.206270	4.800000e-02	0.189610	0.048000	0.145420	0.075000	0.146860	0.068000	0.165740	0.068000	1.538800e-01	AAC		TCGA-IB-A5SO-01A-11D-A32N-08	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1	0	0	0	50	452	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1.000000	46	393	0	159	2		0	0	0	0	147	2	-16.283330	1	1	0	0		1	0	1	1			0.230000	1.870000	0.230000	0.420000	0.320000	0.550000	0.430000	0.437029	0.420000	0	0.370000	0.490000
