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
ATRNL1	26033	broad.mit.edu	37	10	117221467	117221474	+	Frame_Shift_Del	DEL	TTATCAAT	TTATCAAT	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:117221467_117221474delTTATCAAT	ENST00000355044.3	+	22	3465_3472	c.3339_3346delTTATCAAT	c.(3337-3348)gattatcaatttfs	p.YQF1114fs	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.YQF165fs	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1			95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)			TTTTGATTGATTATCAATTTACCTTCAG	0.322000																								0							SO:0001589	frameshift_variant			ENST00000355044.3	1	1	hg19	CCDS7592.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	1	0	0	49	293	0	57			0	0	0	57		0	0	0	0	0	0		1	0.999985	73	324	1	58	22								-20.000000	1	1	0	0		1	1	2	3	2.067555	0	0.560000	1.960000	0.564873	0.510000	3.900000e-01	1.000000	0.510000	0.537446	0.510000	0	0.450000	0.600000
ABCC6	368	broad.mit.edu	37	16	16284067	16284068	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:16284067_16284068insGG	ENST00000205557.7	-	12	1617_1618	c.1588_1589insCC	c.(1588-1590)ctcfs	p.L530fs	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6			43				Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGAGAAGAGGAGGCCGGAGGTC	0.594000																								0							SO:0001589	frameshift_variant			ENST00000205557.7	0	1	hg19	CCDS10568.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2	1	0	0	67	430	0	74	0	0	0	1	0	74	2	0	0	0	0	0	0		1	1.000000	68	424	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.060149	0	0.560000	1.960000	0.564873	0.480000	3.800000e-01	1.000000	0.490000	0.506017	0.480000	0	0.430000	0.550000
SLC6A3	6531	broad.mit.edu	37	5	1432653	1432653	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:1432653delA	ENST00000270349.9	-	4	706	c.579delT	c.(577-579)catfs	p.H193fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.H193fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3			38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)	Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGTCACCAGGATGGGCATCCG	0.597000																								0							SO:0001589	frameshift_variant			ENST00000270349.9	1	1	hg19	CCDS3863.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	1	0	0	62	428	0	44	0	1.740601e-01	0	6	0	44	2	0	0	0	0	0	0		1	1.000000	61	423	0	41	2								-20.000000	1	1	0	0		1	1	3	4	2.612569	1	0.560000	1.960000	0.666465	0.620000	4.700000e-01	1.000000	0.600000	0.697064	0.620000	0	0.530000	1.000000
SESN1	27244	broad.mit.edu	37	6	109309803	109309828	+	Frame_Shift_Del	DEL	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	ENST00000356644.7	-	9	1404_1429	c.1310_1335delTCAAAACTGTTGTTTGCACTCCTGAA	c.(1309-1335)atcaaaactgttgtttgcactcctgaafs	p.IKTVVCTPE437fs	SESN1_ENST00000436639.2_Frame_Shift_Del_p.IKTVVCTPE496fs|SESN1_ENST00000302071.2_Frame_Shift_Del_p.IKTVVCTPE371fs	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	p.E504Q(1)		10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)			TGGTAACCTTTTCAGGAGTGCAAACAACAGTTTTGATATAAACTTT	0.341000																								1	Substitution - Missense(1)						SO:0001589	frameshift_variant			ENST00000356644.7	0	1	hg19	CCDS56445.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	1	0	0	15	69	0	28	0	6.656172e-01	0	12	0	28	2	0	0	0	0	0	0		1	0.959038	48	104	1	30	16								-20.000000	1	1	0	0		1	0	1	1	1.488837	1	0.560000	1.960000	0.391256	0.450000	2.700000e-01	0.680000	0.450000	0.471471	0.450000	0	0.360000	0.570000
C10orf76	79591	broad.mit.edu	37	10	103792843	103792843	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:103792843G>C	ENST00000370033.4	-	4	365	c.246C>G	c.(244-246)ttC>ttG	p.F82L	C10orf76_ENST00000311122.5_Missense_Mutation_p.F82L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76			24		Colorectal(252;0.123)			TGCAGTGTTGGAATAAGCAAT	0.453000																								0							SO:0001583	missense			ENST00000370033.4	1	1	hg19	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339757	0.60963	.	.	ENSG00000120029	ENST00000370033;ENST00000311122	T;T	0.61274	0.12;2.32	6.15	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	L	0.56124	1.755	0.80722	D	1	P;D	0.71674	0.528;0.998	B;D	0.76071	0.128;0.987	T	0.62765	-0.6785	10	0.45353	T	0.12	-17.9247	8.6237	0.33877	0.5511:0.0:0.4489:0.0	.	82;82	Q5T2E6;Q5T2E7	CJ076_HUMAN;.	L	82	ENSP00000359050:F82L;ENSP00000312408:F82L	ENSP00000312408:F82L	F	-	3	2	C10orf76	103782833	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.090000	0.30902	0.455000	0.26910	-0.366000	0.07423	TTC		TCGA-3A-A9IZ-01A-12D-A40W-08	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	0	0	0	10	314	0	88	1	1.144774e-01	2	15	0	88	2		0	0	0	0	0	2	1	0.996751	10	309	0	86	2								-3.159045	1	1	0	0		1	0	1	1	1.493332	1	0.560000	1.960000	0.391256	0.070000	3.000000e-02	0.140000	0.080000	0.086685	0.070000	0	0.050000	0.110000
CUBN	8029	broad.mit.edu	37	10	16882333	16882333	+	Missense_Mutation	SNP	G	G	A	rs150358307	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:16882333G>A	ENST00000377833.4	-	62	10093	c.10028C>T	c.(10027-10029)cCg>cTg	p.P3343L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTACCTGCGGTGAGTCCTG	0.423000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.344	0.431511	0.12045	0.0	4.65E-4	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.17054	2.3	4.74	0.6	0.17524	CUB (5);	0.659654	0.12465	N	0.466572	T	0.16085	0.0387	M	0.71581	2.175	0.09310	N	0.999999	P	0.46912	0.886	B	0.40410	0.328	T	0.14755	-1.0461	10	0.36615	T	0.2	.	3.4857	0.07618	0.1517:0.1351:0.5736:0.1397	.	3343	O60494	CUBN_HUMAN	L	3343;184	ENSP00000367064:P3343L	ENSP00000367064:P3343L	P	-	2	0	CUBN	16922339	0.602000	0.26916	0.058000	0.19502	0.142000	0.21351	1.757000	0.38400	0.061000	0.16311	0.561000	0.74099	CCG		TCGA-3A-A9IZ-01A-12D-A40W-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	58	169	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1.000000	56	168	0	50	2								-3.971141	1	1	121412	37	46	1	1	2	3	2.043907	0	0.560000	1.960000	0.562450	0.910000	7.200000e-01	1.000000	1.000000	0.908974	0.910000	1	0.810000	1.000000
ARHGAP19	84986	broad.mit.edu	37	10	99024599	99024599	+	Silent	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:99024599A>T	ENST00000358531.4	-	3	415	c.387T>A	c.(385-387)atT>atA	p.I129I	ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.I129I|ARHGAP19_ENST00000371027.1_Silent_p.I120I|ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.I129I|ARHGAP19_ENST00000355366.5_Silent_p.I120I|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.I129I	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19			13		Colorectal(252;0.0854)			GTAGATACTCAATCAGTTGGT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000358531.4	1	0	hg19	CCDS7454.2																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	1	0	1	68	111	0	64	0	0	1	0	0	64	2		0	0	0	0	0	2	1	1.000000	68	109	0	64	2								-20.000000	1	1	0	0		1	0	1	1	1.493332	1	0.560000	1.960000	0.391256	0.920000	7.700000e-01	1.000000	1.000000	0.924139	0.920000	1	0.850000	0.990000
KCNA4	3739	broad.mit.edu	37	11	30032887	30032887	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:30032887G>A	ENST00000328224.6	-	2	2572	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4			78				Dalfampridine(DB06637)	CGGACCAGACGAATGATTCTG	0.587000																								0							SO:0001583	missense			ENST00000328224.6	1	1	hg19	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745893	0.69418	.	.	ENSG00000182255	ENST00000328224	D	0.99259	-5.64	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.99897	4.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96415	0.9307	10	0.87932	D	0	.	19.003	0.92841	0.0:0.0:1.0:0.0	.	447	P22459	KCNA4_HUMAN	C	447	ENSP00000328511:R447C	ENSP00000328511:R447C	R	-	1	0	KCNA4	29989463	1.000000	0.71417	0.889000	0.34880	0.979000	0.70002	9.869000	0.99810	2.491000	0.84063	0.650000	0.86243	CGT		TCGA-3A-A9IZ-01A-12D-A40W-08	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	1	0	0	12	230	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	0.999142	12	228	0	71	2								-3.333451	1	1	0	0		1	0	1	1	1.475442	1	0.560000	1.960000	0.388889	0.120000	6.000000e-02	0.210000	0.130000	0.136109	0.120000	0	0.090000	0.170000
OR51A7	119687	broad.mit.edu	37	11	4928955	4928955	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:4928955C>A	ENST00000359350.4	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7			33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			CTAATTATGTCTTTGGACCGC	0.403000																								0							SO:0001583	missense			ENST00000359350.4	1	1	hg19	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377814	0.61735	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.81415	-1.49	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.145141	0.32328	N	0.006243	D	0.92463	0.7607	H	0.94808	3.585	0.31719	N	0.6385	D	0.89917	1.0	D	0.76575	0.988	D	0.93516	0.6857	10	0.87932	D	0	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	119	Q8NH64	O51A7_HUMAN	Y	119;119;108	ENSP00000352305:S119Y	ENSP00000352305:S119Y	S	+	2	0	OR51A7	4885531	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	5.325000	0.65869	2.596000	0.87737	0.655000	0.94253	TCT		TCGA-3A-A9IZ-01A-12D-A40W-08	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	0	0	1	141	211	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1.000000	141	209	0	138	2								-20.000000	1	1	0	0		1	0	1	1	1.475442	1	0.560000	1.960000	0.388889	0.960000	8.600000e-01	1.000000	0.990000	0.958966	0.960000	1	0.910000	0.990000
OR9Q2	219957	broad.mit.edu	37	11	57958767	57958767	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57958767G>A	ENST00000311591.3	+	1	862	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	p.E269K(1)		41		Breast(21;0.0589)			CCAGTCCTCCGAGGGAGACCG	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000311591.3	1	1	hg19	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	9.517	1.107203	0.20714	.	.	ENSG00000186513	ENST00000311591	T	0.00099	8.73	5.09	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.463064	0.18027	N	0.154059	T	0.00109	0.0003	N	0.25825	0.765	0.09310	N	1	B	0.27932	0.194	B	0.22601	0.04	T	0.21042	-1.0257	10	0.59425	D	0.04	-9.1453	9.2658	0.37641	0.0947:0.1872:0.7181:0.0	.	269	Q8NGE9	OR9Q2_HUMAN	K	269	ENSP00000308714:E269K	ENSP00000308714:E269K	E	+	1	0	OR9Q2	57715343	0.006000	0.16342	0.072000	0.20136	0.347000	0.29111	1.109000	0.31135	1.338000	0.45544	0.655000	0.94253	GAG		TCGA-3A-A9IZ-01A-12D-A40W-08	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	1	0	1	80	289	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1.000000	81	286	0	73	2								-3.544887	1	1	0	0		1	1	2	3	2.032037	0	0.560000	1.960000	0.561229	0.770000	6.200000e-01	0.940000	0.780000	0.780191	0.770000	0	0.690000	0.860000
OR1S2	219958	broad.mit.edu	37	11	57970714	57970714	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57970714G>A	ENST00000302592.6	-	1	939	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2			46		Breast(21;0.0589)			AGCTTTCTCAGGGCACCTTTC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000302592.6	0	1	hg19	CCDS31545.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	0	0	0	7	642	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	0.975668	7	601	0	147	2								-2.101409	0	1	0	0		1	1	2	3	2.032037	0	0.560000	1.960000	0.561229	0.030000	0	0.080000	0.040000	0.043963	0.030000	0	0.020000	0.060000
ZNF215	7762	broad.mit.edu	37	11	6953847	6953847	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:6953847A>G	ENST00000278319.5	+	3	932	c.344A>G	c.(343-345)aAc>aGc	p.N115S	ZNF215_ENST00000414517.2_Missense_Mutation_p.N115S|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.N115S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215			32					CATCCAAACAACAGTAAAGAT	0.378000																								0							SO:0001583	missense			ENST00000278319.5	1	1	hg19	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	6.216	0.407981	0.11754	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.04015	3.73;3.73;3.73	4.14	0.197	0.15164	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.168848	0.28166	N	0.016350	T	0.02342	0.0072	N	0.13352	0.335	0.22903	N	0.998588	B;B;B	0.32409	0.248;0.37;0.181	B;B;B	0.35770	0.112;0.21;0.074	T	0.44682	-0.9312	10	0.05959	T	0.93	-7.9422	6.3872	0.21568	0.6446:0.0:0.3554:0.0	.	115;115;115	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	S	115	ENSP00000278319:N115S;ENSP00000393202:N115S;ENSP00000432306:N115S	ENSP00000278319:N115S	N	+	2	0	ZNF215	6910423	0.062000	0.20869	0.987000	0.45799	0.144000	0.21451	-0.089000	0.11180	0.022000	0.15160	0.533000	0.62120	AAC		TCGA-3A-A9IZ-01A-12D-A40W-08	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1	1	0	1	28	141	0	47	0	0	1	0	0	47	2		0	0	0	0	0	2	1	1.000000	28	139	0	45	2								-20.000000	1	1	121412	1	33	1	0	1	1	1.475442	1	0.560000	1.960000	0.388889	0.420000	2.900000e-01	0.570000	0.420000	0.432058	0.420000	0	0.350000	0.500000
PLEKHB1	58473	broad.mit.edu	37	11	73364058	73364058	+	Splice_Site	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:73364058C>G	ENST00000354190.5	+	5	820	c.389C>G	c.(388-390)cCg>cGg	p.P130R	PLEKHB1_ENST00000398494.4_Splice_Site_p.P111R|PLEKHB1_ENST00000227214.6_Splice_Site_p.P111R|PLEKHB1_ENST00000535129.1_Splice_Site_p.P111R|PLEKHB1_ENST00000398492.4_Splice_Site_p.P130R|PLEKHB1_ENST00000543085.1_Splice_Site_p.P60R	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1			7					AACTCCACCCCGGTGAGTCTC	0.582000																								0							SO:0001630	splice_region_variant			ENST00000354190.5	0	1	hg19	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668309	0.29604	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000539157;ENST00000546251;ENST00000535582;ENST00000538227;ENST00000539549;ENST00000542185;ENST00000543524;ENST00000541597;ENST00000535129;ENST00000542389;ENST00000540431	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	4.53	3.62	0.41486	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.176334	0.50627	D	0.000115	T	0.41236	0.1150	L	0.38175	1.15	0.39250	D	0.964026	D;D;D;P	0.89917	0.975;1.0;1.0;0.954	D;D;D;P	0.91635	0.943;0.999;0.999;0.819	T	0.35325	-0.9793	10	0.54805	T	0.06	-18.4952	8.962	0.35854	0.0:0.901:0.0:0.099	.	111;134;130;130	F5GXN2;Q59EU5;Q9UF11-2;Q9UF11	.;.;.;PKHB1_HUMAN	R	130;130;111;111;60;118;111;111;111;111;111;111;111;111;111;118	ENSP00000346127:P130R;ENSP00000381505:P130R;ENSP00000227214:P111R;ENSP00000381507:P111R;ENSP00000441224:P60R;ENSP00000445990:P118R;ENSP00000439714:P111R;ENSP00000438809:P111R;ENSP00000445807:P111R;ENSP00000444453:P111R;ENSP00000442136:P111R;ENSP00000442616:P111R;ENSP00000440102:P111R;ENSP00000441558:P118R	ENSP00000227214:P111R	P	+	2	0	PLEKHB1	73041706	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	1.837000	0.39201	1.517000	0.48917	-0.133000	0.14855	CCG		TCGA-3A-A9IZ-01A-12D-A40W-08	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1	0	0	0	10	146	0	21	1	4.913512e-01	3	21	0	21	2		0	0	0	0	0	2	1	0.996554	10	140	0	21	2								-3.021303	1	1	0	0		1	1	2	3	2.567761	1	0.560000	1.960000	0.654739	0.300000	1.500000e-01	0.540000	0.300000	0.322510	0.300000	0	0.220000	0.410000
PANX1	24145	broad.mit.edu	37	11	93911725	93911725	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:93911725C>T	ENST00000227638.3	+	3	897	c.512C>T	c.(511-513)tCa>tTa	p.S171L	PANX1_ENST00000436171.2_Missense_Mutation_p.S171L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1			20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		Probenecid(DB01032)	GGAGCCTGCTCAGTTCCAGGT	0.483000																								0							SO:0001583	missense			ENST00000227638.3	1	1	hg19	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789449	0.31685	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.26957	1.7;1.7	5.05	5.05	0.67936	.	0.838115	0.11120	N	0.597512	T	0.21427	0.0516	N	0.25647	0.755	0.09310	N	1	B;B	0.20164	0.042;0.034	B;B	0.25506	0.061;0.036	T	0.14035	-1.0487	10	0.25106	T	0.35	-1.3263	13.7438	0.62863	0.0:0.9231:0.0:0.0769	.	171;171	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	L	171	ENSP00000227638:S171L;ENSP00000411461:S171L	ENSP00000227638:S171L	S	+	2	0	PANX1	93551373	0.002000	0.14202	0.154000	0.22540	0.125000	0.20455	1.502000	0.35704	2.342000	0.79632	0.563000	0.77884	TCA		TCGA-3A-A9IZ-01A-12D-A40W-08	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	1	0	1	87	292	0	62	1	9.998076e-01	5	40	0	62	2		0	0	0	0	0	2	1	1.000000	85	288	0	62	2								-4.285428	1	1	121412	12	42	1	1	2	3	2.567761	1	0.560000	1.960000	0.654739	0.990000	8.500000e-01	1.000000	1.000000	0.981167	0.990000	1	0.940000	1.000000
WSB2	55884	broad.mit.edu	37	12	118481162	118481162	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:118481162G>C	ENST00000315436.3	-	3	344	c.203C>G	c.(202-204)gCc>gGc	p.A68G	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.A85G|WSB2_ENST00000535496.1_Missense_Mutation_p.A70G|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2			17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TCGGCTTTTGGCTTCAAACCC	0.493000																								0							SO:0001583	missense			ENST00000315436.3	1	1	hg19	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813241	0.32053	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.61510	0.33;0.35;0.37;0.1	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.647108	0.14669	N	0.305457	T	0.39145	0.1067	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16247	-1.0409	10	0.02654	T	1	-15.2412	14.0586	0.64786	0.0:0.152:0.848:0.0	.	68	Q9NYS7	WSB2_HUMAN	G	68;85;70;70	ENSP00000319474:A68G;ENSP00000409131:A85G;ENSP00000439450:A70G;ENSP00000440386:A70G	ENSP00000319474:A68G	A	-	2	0	WSB2	116965545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.925000	0.56484	2.731000	0.93534	0.650000	0.86243	GCC		TCGA-3A-A9IZ-01A-12D-A40W-08	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	0	0	0	18	562	0	108	1	8.188137e-01	5	95	0	108	2		0	0	0	0	0	2	1	0.999980	18	555	0	104	2								-3.257625	1	1	0	0		1	0	1	1	2.002778	1	0.560000	1.960000	0.388889	0.070000	4.000000e-02	0.120000	0.080000	0.083712	0.070000	0	0.050000	0.100000
EPS8	2059	broad.mit.edu	37	12	15807213	15807213	+	Silent	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:15807213T>G	ENST00000281172.5	-	13	1552	c.1116A>C	c.(1114-1116)acA>acC	p.T372T	EPS8_ENST00000543612.1_Silent_p.T372T|EPS8_ENST00000540613.1_Silent_p.T112T|EPS8_ENST00000542903.1_Silent_p.T112T|EPS8_ENST00000543523.1_Silent_p.T372T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8			33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)			CAGGACCTCCTGTTGCCTGCA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000281172.5	1	1	hg19	CCDS31753.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1	1	0	0	19	306	0	79	1	9.825060e-01	7	101	0	79	2		0	0	0	0	0	2	1	0.999991	19	302	0	77	2								-19.994040	1	1	0	0		1	0	0	0	2.023893	0	0.560000	1.960000	0.560000	0.200000	1.200000e-01	0.310000	0.210000	0.217894	0.200000	0	0.160000	0.260000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-3A-A9IZ-01A-12D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	56	151	0	59	1	9.980812e-01	19	10	0	59	2	1	1	74	273	0	274	2	1	1.000000	54	150	0	57	2								-20.000000	1	1	121404	2	44	1	0	0	0	2.023893	0	0.560000	1.960000	0.560000	0.960000	7.500000e-01	1.000000	1.000000	0.939583	0.960000	1	0.850000	1.000000
PRMT8	56341	broad.mit.edu	37	12	3649855	3649855	+	Silent	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:3649855C>A	ENST00000382622.3	+	2	549	c.159C>A	c.(157-159)ccC>ccA	p.P53P	PRMT8_ENST00000452611.2_Silent_p.P44P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8			37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		CCACTCAACCCAGCTGCCCAG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000382622.3	1	1	hg19	CCDS8521.2																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	1	0	1	251	651	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	1.000000	249	638	0	152	2								-11.201150	1	1	0	0		1	1	2	3	2.122144	0	0.560000	1.960000	0.570815	0.990000	9.000000e-01	1.000000	1.000000	0.987565	0.990000	1	0.960000	1.000000
CCDC41	0	broad.mit.edu	37	12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	rs111647062		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W|CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN				27					TGTGAAGCCCGCAATTTCTCT	0.373000																								0							SO:0001583	missense			ENST00000397809.5	0	1	hg19	CCDS41820.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.11	2.438221	0.43326	2.7E-4	2.43E-4	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.53857	1.94;1.94;0.6	5.83	4.94	0.65067	.	.	.	.	.	T	0.56761	0.2007	L	0.56769	1.78	0.36865	D	0.888618	D;D	0.76494	0.999;0.993	P;P	0.50896	0.653;0.534	T	0.67515	-0.5651	9	0.87932	D	0	-8.5225	10.5268	0.44954	0.0683:0.0:0.7969:0.1348	.	398;423	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	W	431;431;398	ENSP00000344655:R431W;ENSP00000380911:R431W;ENSP00000380909:R398W	ENSP00000344655:R431W	R	-	1	2	CCDC41	93285753	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	6.105000	0.71505	1.461000	0.47929	-0.181000	0.13052	CGG		TCGA-3A-A9IZ-01A-12D-A40W-08	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3	0	0	0	6	653	0	157	0	7.719552e-03	0	12	0	157	2		0	0	0	0	0	2	1	0.963397	4	645	0	152	2								-1.808643	0	1	120824	50	52	1	0	1	1	2.002778	1	0.560000	1.960000	0.388889	0.020000	0	0.050000	0.020000	0.027161	0.020000	0	0.010000	0.040000
SLC15A1	6564	broad.mit.edu	37	13	99339977	99339977	+	Splice_Site	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr13:99339977T>C	ENST00000376503.5	-	21	1740	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1			30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)			Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCAGCTGTCATTCTGCAGCAG	0.408000																								0							SO:0001630	splice_region_variant			ENST00000376503.5	1	0	hg19	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	0.258	-1.001780	0.02128	.	.	ENSG00000088386	ENST00000376503	T	0.01998	4.51	5.45	-5.68	0.02436	Major facilitator superfamily domain, general substrate transporter (1);	1.941670	0.01609	N	0.022434	T	0.00936	0.0031	N	0.02120	-0.675	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45205	-0.9277	10	0.02654	T	1	-29.6666	8.1832	0.31324	0.0:0.3927:0.3876:0.2197	.	562	P46059	S15A1_HUMAN	S	562	ENSP00000365686:N562S	ENSP00000365686:N562S	N	-	2	0	SLC15A1	98137978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.980000	0.03770	-1.882000	0.01122	-0.460000	0.05396	AAT		TCGA-3A-A9IZ-01A-12D-A40W-08	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	1	0	1	85	142	0	79	1	7.207349e-01	5	1	0	79	2		0	0	0	0	0	2	1	1.000000	84	139	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.506971	1	0.560000	1.960000	0.391256	0.920000	7.900000e-01	1.000000	1.000000	0.925466	0.920000	1	0.860000	0.990000
RCOR1	23186	broad.mit.edu	37	14	103180896	103180896	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:103180896C>T	ENST00000570597.1	+	8	986	c.986C>T	c.(985-987)aCt>aTt	p.T329I	RCOR1_ENST00000262241.6_Missense_Mutation_p.T332I			Q9UKL0	RCOR1_HUMAN	REST corepressor 1			12					GCCAATGCCACTGCTGCTACC	0.413000																								0							SO:0001583	missense			ENST00000570597.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.53	3.412066	0.62511	.	.	ENSG00000089902	ENST00000262241	.	.	.	6.07	5.16	0.70880	.	0.206697	0.50627	D	0.000108	T	0.35998	0.0951	N	0.22421	0.69	0.51233	D	0.999914	P	0.40032	0.699	B	0.33620	0.167	T	0.26155	-1.0111	9	0.46703	T	0.11	-16.8936	12.052	0.53511	0.1363:0.7327:0.131:0.0	.	329	Q9UKL0	RCOR1_HUMAN	I	329	.	ENSP00000262241:T329I	T	+	2	0	RCOR1	102250649	0.999000	0.42202	0.981000	0.43875	0.985000	0.73830	4.443000	0.59994	1.516000	0.48900	0.655000	0.94253	ACT		TCGA-3A-A9IZ-01A-12D-A40W-08	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	6	314	0	63	0	1.797436e-01	0	35	0	63	2		0	0	0	0	0	2	1	0.963978	5	311	0	61	2								-6.541969	1	0	0	0		1	1	2	3	2.030033	0	0.560000	1.960000	0.561229	0.060000	2.000000e-02	0.150000	0.070000	0.077685	0.060000	0	0.040000	0.110000
PSMB11	122706	broad.mit.edu	37	14	23511502	23511502	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:23511502G>C	ENST00000408907.2	+	1	127	c.68G>C	c.(67-69)cGg>cCg	p.R23P		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11			7	all_cancers(95;3.3e-05)				CACCTGCCTCGGGCTGGCGGC	0.637000																								0							SO:0001583	missense			ENST00000408907.2	0	1	hg19	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	G	1.987	-0.432710	0.04669	.	.	ENSG00000222028	ENST00000408907	T	0.27890	1.64	5.53	-11.1	0.00147	.	1.913640	0.03285	N	0.186696	T	0.12774	0.0310	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08617	-1.0713	10	0.27082	T	0.32	-1.412	4.21	0.10507	0.2548:0.2667:0.3906:0.088	.	23	A5LHX3	PSB11_HUMAN	P	23	ENSP00000386212:R23P	ENSP00000386212:R23P	R	+	2	0	PSMB11	22581342	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-2.830000	0.00744	-2.417000	0.00567	-1.044000	0.02363	CGG		TCGA-3A-A9IZ-01A-12D-A40W-08	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	0	0	0	9	505	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	0.993532	9	491	0	88	2								-2.268914	0	1	0	0		1	1	2	3	2.030033	0	0.560000	1.960000	0.561229	0.060000	2.000000e-02	0.120000	0.060000	0.069305	0.060000	0	0.040000	0.090000
FBN1	2200	broad.mit.edu	37	15	48766481	48766481	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			C	G	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:48766481C>G	ENST00000316623.5	-	34	4636	c.4181G>C	c.(4180-4182)gGa>gCa	p.G1394A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			ACCTGTGTATCCTTCCTTGCA	0.473000																								0							SO:0001583	missense			ENST00000316623.5	1	1	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049649	0.55218	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.92595	-3.07	5.29	5.29	0.74685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.097281	0.64402	D	0.000001	D	0.97636	0.9225	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98621	1.0667	10	0.87932	D	0	.	18.7133	0.91666	0.0:1.0:0.0:0.0	.	1394	P35555	FBN1_HUMAN	A	1394;284	ENSP00000325527:G1394A	ENSP00000325527:G1394A	G	-	2	0	FBN1	46553773	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	7.597000	0.82733	2.753000	0.94483	0.650000	0.86243	GGA		TCGA-3A-A9IZ-01A-12D-A40W-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	73	148	0	60	0	9.999978e-01	0	44	0	60	2		0	0	0	0	0	2	1	1.000000	73	147	0	58	2								-20.000000	1	1	0	0		1	0	1	1	2.015215	0	0.560000	1.960000	0.558765	0.990000	9.500000e-01	1.000000	1.000000	0.997664	0.990000	1	0.990000	1.000000
CYP1A1	1543	broad.mit.edu	37	15	75014944	75014944	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:75014944C>A	ENST00000379727.3	-	2	693	c.495G>T	c.(493-495)aaG>aaT	p.K165N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.K165N|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K165N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.K165N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1			34				Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CCTCAGCCTCCTTGCTCACAT	0.572000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia															0							SO:0001583	missense	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	ENST00000379727.3	1	1	hg19	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580074	0.28180	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.69561	-0.41;-0.41;-0.41	4.91	-1.8	0.07907	.	0.245514	0.46758	D	0.000263	T	0.63486	0.2515	M	0.77712	2.385	0.42656	D	0.993469	B;B	0.30664	0.289;0.171	B;B	0.40477	0.33;0.22	T	0.55023	-0.8205	10	0.52906	T	0.07	.	2.396	0.04390	0.1025:0.3183:0.1675:0.4117	.	165;165	E7EMT5;P04798	.;CP1A1_HUMAN	N	165	ENSP00000369050:K165N;ENSP00000378488:K165N;ENSP00000378489:K165N	ENSP00000268062:K165N	K	-	3	2	CYP1A1	72801997	0.191000	0.23288	0.983000	0.44433	0.772000	0.43724	-0.386000	0.07370	-0.412000	0.07519	-0.379000	0.06801	AAG		TCGA-3A-A9IZ-01A-12D-A40W-08	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	1	0	1	125	391	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1.000000	122	384	0	60	2								-4.871128	1	1	0	0		1	0	5	5	2.437396	1	0.560000	1.960000	0.633822	0.990000	8.800000e-01	1.000000	1.000000	0.987405	0.990000	1	0.960000	1.000000
PRM1	5619	broad.mit.edu	37	16	11374992	11374992	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:11374992C>G	ENST00000312511.3	-	1	215	c.104G>C	c.(103-105)aGa>aCa	p.R35T	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	p.0?(1)		4					ACTCATGGCTCTCCTCCGTGT	0.617000																								1	Whole gene deletion(1)						SO:0001583	missense			ENST00000312511.3	0	1	hg19	CCDS10547.1	.	.	.	.	.	.	.	.	.	.	C	5.402	0.259367	0.10239	.	.	ENSG00000175646	ENST00000312511	.	.	.	3.2	2.23	0.28157	.	0.610754	0.13387	N	0.391708	T	0.30198	0.0757	.	.	.	0.09310	N	1	P	0.44139	0.827	B	0.42087	0.375	T	0.14420	-1.0473	8	0.87932	D	0	1.6873	6.2261	0.20708	0.0:0.8559:0.0:0.1441	.	35	P04553	HSP1_HUMAN	T	35	.	ENSP00000310515:R35T	R	-	2	0	PRM1	11282493	0.006000	0.16342	0.004000	0.12327	0.055000	0.15305	0.194000	0.17135	0.560000	0.29169	0.430000	0.28490	AGA		TCGA-3A-A9IZ-01A-12D-A40W-08	PRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207010.1	0	0	0	7	485	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	0.978659	6	472	0	106	2								-2.974678	1	1	0	0		1	1	2	3	2.060149	0	0.560000	1.960000	0.564873	0.050000	1.000000e-02	1.000000	0.060000	0.085558	0.050000	0	0.030000	0.080000
C16orf45	89927	broad.mit.edu	37	16	15677014	15677014	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:15677014G>C	ENST00000300006.4	+	5	780	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	C16orf45_ENST00000561692.1_Splice_Site_p.E93Q|C16orf45_ENST00000452191.2_Splice_Site_p.E124Q|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000565913.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45			11					CTTTCACAGGGAGCAAGAAGA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000300006.4	1	0	hg19	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921388	0.92249	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.59224	0.28;0.28	5.27	5.27	0.74061	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.84082	2.675	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.83275	0.995;0.996	T	0.82452	-0.0450	10	0.87932	D	0	-19.9858	18.4883	0.90838	0.0:0.0:1.0:0.0	.	85;141	B4DE25;Q96MC5	.;CP045_HUMAN	Q	141;124	ENSP00000300006:E141Q;ENSP00000408976:E124Q	ENSP00000300006:E141Q	E	+	1	0	C16orf45	15584515	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.318000	0.89990	2.434000	0.82447	0.650000	0.86243	GAG		TCGA-3A-A9IZ-01A-12D-A40W-08	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	1	0	0	51	503	0	120	1	9.383021e-01	2	46	0	120	2		0	0	0	0	0	2	1	1.000000	50	497	0	120	2								-14.256170	1	1	0	0		1	1	2	3	2.060149	0	0.560000	1.960000	0.564873	0.330000	2.400000e-01	1.000000	0.330000	0.356368	0.330000	0	0.280000	0.390000
HAGH	3029	broad.mit.edu	37	16	1869148	1869148	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:1869148G>A	ENST00000397356.3	-	5	915	c.509C>T	c.(508-510)cCc>cTc	p.P170L	HAGH_ENST00000455446.2_Intron|HAGH_ENST00000566709.1_Missense_Mutation_p.P122L|HAGH_ENST00000397353.2_Missense_Mutation_p.P122L	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase			5		Hepatocellular(780;0.00335)		Glutathione(DB00143)	CGAGCCTCCGGGCTTGCTCAC	0.627000													Pancreas(55;1048 1176 25227 40124 41333)											0							SO:0001583	missense			ENST00000397356.3	1	1	hg19	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010153	0.35415	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.95622	-3.76;-3.76	4.92	4.92	0.64577	Beta-lactamase-like (2);	0.232302	0.44285	D	0.000476	D	0.90587	0.7049	N	0.25201	0.72	0.80722	D	1	P;B;P	0.39717	0.536;0.099;0.684	B;B;B	0.34824	0.067;0.023;0.19	D	0.90163	0.4229	10	0.30078	T	0.28	-11.5709	17.4781	0.87666	0.0:0.0:1.0:0.0	.	167;122;170	B4DT01;Q16775-2;Q16775	.;.;GLO2_HUMAN	L	170;122	ENSP00000380514:P170L;ENSP00000380511:P122L	ENSP00000380511:P122L	P	-	2	0	HAGH	1809149	1.000000	0.71417	0.945000	0.38365	0.042000	0.13812	6.522000	0.73783	2.435000	0.82474	0.555000	0.69702	CCC		TCGA-3A-A9IZ-01A-12D-A40W-08	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	1	0	1	36	83	0	22	1	9.999974e-01	3	50	0	22	2		0	0	0	0	0	2	1	1.000000	36	81	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.060149	0	0.560000	1.960000	0.564873	0.990000	8.100000e-01	1.000000	1.000000	0.978133	0.990000	1	0.940000	1.000000
CDR2	1039	broad.mit.edu	37	16	22385600	22385600	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:22385600C>G	ENST00000268383.2	-	1	338	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	RP11-21M24.2_ENST00000567158.1_RNA|RP11-21M24.2_ENST00000568827.1_RNA|CDR2_ENST00000569045.1_Intron	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa			11					TCCTTCATCTCAAACTCCTCT	0.736000																								0							SO:0001583	missense			ENST00000268383.2	1	1	hg19	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323911	0.60634	.	.	ENSG00000140743	ENST00000268383	T	0.30981	1.51	4.23	4.23	0.50019	.	0.055975	0.64402	U	0.000001	T	0.45538	0.1347	L	0.52364	1.645	0.50171	D	0.999852	D	0.71674	0.998	D	0.66351	0.943	T	0.28396	-1.0045	10	0.14656	T	0.56	-17.8946	16.6203	0.84928	0.0:1.0:0.0:0.0	.	11	Q01850	CDR2_HUMAN	Q	11	ENSP00000268383:E11Q	ENSP00000268383:E11Q	E	-	1	0	CDR2	22293101	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.673000	0.61604	1.899000	0.54978	0.462000	0.41574	GAG		TCGA-3A-A9IZ-01A-12D-A40W-08	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1	1	0	0	105	324	0	72	1	9.976890e-01	13	18	0	72	2		0	0	0	0	0	2	1	1.000000	104	319	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.060149	0	0.560000	1.960000	0.564873	0.880000	7.300000e-01	1.000000	1.000000	0.887525	0.880000	1	0.800000	0.970000
PKD1L2	114780	broad.mit.edu	37	16	81232548	81232548	+	RNA	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:81232548C>G	ENST00000525539.1	-	0	1261				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2			44					GCGGTGCCTCCCAGGGCCCAT	0.567000																								0											ENST00000525539.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	13.41	2.229880	0.39399	.	.	ENSG00000166473	ENST00000337114	T	0.11495	2.77	5.25	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	.	.	.	0.29345	N	0.865728	P;D	0.89917	0.906;1.0	P;D	0.75020	0.81;0.985	T	0.25328	-1.0135	9	0.87932	D	0	-25.724	15.4173	0.74980	0.1403:0.8597:0.0:0.0	.	421;421	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	A	421	ENSP00000337397:G421A	ENSP00000337397:G421A	G	-	2	0	PKD1L2	79790049	0.983000	0.35010	0.253000	0.24343	0.069000	0.16628	3.157000	0.50716	1.237000	0.43756	-0.235000	0.12190	GGG		TCGA-3A-A9IZ-01A-12D-A40W-08	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	1	0	1	126	423	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1.000000	120	414	0	118	2								-20.000000	1	1	0	0		1	0	0	0	2.008269	0	0.560000	1.960000	0.557522	0.810000	6.800000e-01	0.940000	0.810000	0.817323	0.810000	0	0.740000	0.880000
SLC4A1	6521	broad.mit.edu	37	17	42336630	42336630	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:42336630C>T	ENST00000262418.6	-	9	932	c.777G>A	c.(775-777)ccG>ccA	p.P259P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	p.P259P(1)		40		Breast(137;0.014)|Prostate(33;0.0181)			GTATAGGCACCGGCAGCTCCA	0.652000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000262418.6	1	1	hg19	CCDS11481.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	1	0	1	69	157	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1.000000	68	153	0	48	2								-7.160123	1	1	121410	3	35	1	1	2	3	2.052408	0	0.560000	1.960000	0.562450	0.990000	8.800000e-01	1.000000	1.000000	0.989696	0.990000	1	0.980000	1.000000
SDK2	54549	broad.mit.edu	37	17	71381998	71381998	+	Silent	SNP	T	T	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:71381998T>A	ENST00000392650.3	-	32	4557	c.4557A>T	c.(4555-4557)ctA>ctT	p.L1519L	SDK2_ENST00000388726.3_Silent_p.L1519L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2			86					GCCATCGGATTAGCACGGAGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000392650.3	1	1	hg19	CCDS45769.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	1	23	61	0	16		0	0	0	0	16	2	0	3.131725e-01	0	4	0	2	2	1	1.000000	21	58	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.119855	0	0.560000	1.960000	0.570815	0.990000	6.800000e-01	1.000000	1.000000	0.941241	0.990000	1	0.840000	1.000000
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y	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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572000		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	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	GRCh37	CM920673	TP53	M	rs28934573	SO:0001583	missense	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	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	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;1.0;1.0;1.0	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		TCGA-3A-A9IZ-01A-12D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	74	117	0	45	1	9.999669e-01	17	12	0	45	2	1	1	198	386	0	615	2	1	1.000000	69	114	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.519349	1	0.560000	1.960000	0.391256	0.940000	7.900000e-01	1.000000	1.000000	0.934798	0.940000	1	0.870000	0.990000
PFAS	5198	broad.mit.edu	37	17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase			35				L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662000																								0							SO:0001583	missense			ENST00000314666.6	1	1	hg19	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799131	0.90538	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.39997	1.05;1.05	5.24	5.24	0.73138	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	H	0.94542	3.55	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	10	0.87932	D	0	-17.4026	16.6687	0.85260	0.0:0.0:1.0:0.0	.	953;953	A8K8N7;O15067	.;PUR4_HUMAN	M	529;953;362	ENSP00000441706:V529M;ENSP00000313490:V953M	ENSP00000313490:V953M	V	+	1	0	PFAS	8110831	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.109000	0.71528	2.605000	0.88082	0.561000	0.74099	GTG		TCGA-3A-A9IZ-01A-12D-A40W-08	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1	69	109	0	47	0	1.508712e-01	1	1	0	47	2		0	0	0	0	0	2	1	1.000000	67	108	0	44	2								-20.000000	1	1	121412	2	32	1	0	1	1	1.519349	1	0.560000	1.960000	0.391256	0.930000	7.900000e-01	1.000000	1.000000	0.932439	0.930000	1	0.860000	0.990000
DSG2	1829	broad.mit.edu	37	18	29116237	29116237	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr18:29116237T>G	ENST00000261590.8	+	11	1705	c.1496T>G	c.(1495-1497)cTg>cGg	p.L499R		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2			49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)		TGTCCCACACTGATAGAGCCT	0.428000																								0							SO:0001583	missense			ENST00000261590.8	1	1	hg19	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764658	0.49574	.	.	ENSG00000046604	ENST00000261590	T	0.63913	-0.07	5.89	5.89	0.94794	Cadherin (2);Cadherin-like (1);	0.143841	0.32218	N	0.006411	D	0.82513	0.5053	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85990	0.1488	10	0.87932	D	0	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	499	Q14126	DSG2_HUMAN	R	499	ENSP00000261590:L499R	ENSP00000261590:L499R	L	+	2	0	DSG2	27370235	1.000000	0.71417	0.757000	0.31301	0.015000	0.08874	6.161000	0.71868	2.246000	0.74042	0.533000	0.62120	CTG		TCGA-3A-A9IZ-01A-12D-A40W-08	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	0	0	0	13	360	0	76	1	9.647442e-01	12	146	0	76	2		0	0	0	0	0	2	1	0.999503	13	354	0	74	2								-13.243290	1	1	0	0		1	1	2	3	2.065193	0	0.560000	1.960000	0.564873	0.120000	6.000000e-02	1.000000	0.120000	0.159462	0.120000	0	0.090000	0.170000
FCGBP	8857	broad.mit.edu	37	19	40424379	40424379	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:40424379G>A	ENST00000221347.6	-	4	1831	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C		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)		CACACAGCCCGCACACCTGGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000221347.6	0	1	hg19	CCDS12546.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	0	0	6	379	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.963830	6	374	0	52	2								-2.334176	0	1	121412	20	47	1	1	2	3	2.072647	0	0.560000	1.960000	0.566075	0.050000	1.000000e-02	1.000000	0.060000	0.100887	0.050000	0	0.030000	0.100000
IZUMO1	284359	broad.mit.edu	37	19	49245529	49245529	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:49245529G>C	ENST00000332955.2	-	7	1084	c.537C>G	c.(535-537)atC>atG	p.I179M	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1			17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)			CACAGTCCAGGATCATGTCTT	0.478000																								0							SO:0001583	missense			ENST00000332955.2	0	1	hg19	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401774	0.42613	.	.	ENSG00000182264	ENST00000332955	D	0.84070	-1.8	4.67	2.5	0.30297	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.764345	0.11908	N	0.517951	T	0.77718	0.4172	N	0.24115	0.695	0.23519	N	0.997503	P	0.40794	0.729	P	0.48400	0.576	T	0.66586	-0.5886	10	0.54805	T	0.06	-19.8514	7.5894	0.28012	0.1976:0.0:0.8024:0.0	.	179	Q8IYV9	IZUM1_HUMAN	M	179	ENSP00000327786:I179M	ENSP00000327786:I179M	I	-	3	3	IZUMO1	53937341	0.907000	0.30839	0.774000	0.31636	0.682000	0.39822	0.508000	0.22692	0.697000	0.31718	0.561000	0.74099	ATC		TCGA-3A-A9IZ-01A-12D-A40W-08	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	0	0	0	5	492	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	0.936161	6	486	0	102	2								-2.872003	1	1	0	0		1	1	2	3	2.072647	0	0.560000	1.960000	0.566075	0.030000	0	1.000000	0.040000	0.079458	0.030000	0	0.010000	0.070000
SHANK1	50944	broad.mit.edu	37	19	51200361	51200361	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:51200361G>A	ENST00000293441.1	-	14	1974	c.1956C>T	c.(1954-1956)ggC>ggT	p.G652G	SHANK1_ENST00000391814.1_Silent_p.G652G|SHANK1_ENST00000359082.3_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1			64		all_neural(266;0.057)			ACCTCCCTGGGCCAATCCCAT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000293441.1	0	1	hg19	CCDS12799.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	0	0	0	6	368	1	62		0	0	0	1	62	2		0	0	0	0	0	2	0	0.004675	6	352	1	60	19								-2.313953	0	1	0	0		1	1	2	3	2.072647	0	0.560000	1.960000	0.566075	0.060000	1.000000e-02	1.000000	0.060000	0.102722	0.060000	0	0.030000	0.100000
VAV1	7409	broad.mit.edu	37	19	6829851	6829851	+	Silent	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:6829851C>G	ENST00000602142.1	+	14	1402	c.1320C>G	c.(1318-1320)tcC>tcG	p.S440S	VAV1_ENST00000599806.1_Silent_p.S385S|VAV1_ENST00000539284.1_Silent_p.S343S|VAV1_ENST00000304076.2_Silent_p.S440S|VAV1_ENST00000596764.1_Silent_p.S408S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor			62					GGGGAGACTCCTATGACCTCA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000602142.1	1	1	hg19	CCDS12174.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	0	21	268	0	79	0	5.954903e-03	0	2	0	79	2		0	0	0	0	0	2	1	0.999998	21	266	0	77	2								-3.017728	1	1	0	0		1	0	1	1	1.533322	1	0.560000	1.960000	0.393605	0.180000	1.100000e-01	0.270000	0.190000	0.194873	0.180000	0	0.140000	0.230000
DENND2D	79961	broad.mit.edu	37	1	111730759	111730759	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:111730759G>C	ENST00000357640.4	-	11	1562	c.1333C>G	c.(1333-1335)Cct>Gct	p.P445A	DENND2D_ENST00000369752.5_Missense_Mutation_p.P442A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D			25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)			GTACCTGCAGGAGGATTCTTG	0.468000																								0							SO:0001583	missense			ENST00000357640.4	1	1	hg19	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	3.119	-0.180963	0.06380	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.12569	2.67;2.67	5.76	5.76	0.90799	.	0.169277	0.52532	D	0.000071	T	0.02380	0.0073	N	0.14661	0.345	0.27874	N	0.939913	B;B	0.34015	0.43;0.435	B;B	0.30179	0.112;0.057	T	0.32214	-0.9915	10	0.02654	T	1	-14.1137	15.8146	0.78589	0.0:0.0:1.0:0.0	.	442;445	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	A	445;442	ENSP00000350266:P445A;ENSP00000358767:P442A	ENSP00000350266:P445A	P	-	1	0	DENND2D	111532282	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.599000	0.61076	2.882000	0.98803	0.655000	0.94253	CCT		TCGA-3A-A9IZ-01A-12D-A40W-08	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	0	0	0	9	303	0	63	1	5.661327e-01	4	58	0	63	2		0	0	0	0	0	2	1	0.994228	8	302	0	63	2								-3.289091	1	1	0	0		1	1	2	3	2.063257	0	0.560000	1.960000	0.564873	0.100000	4.000000e-02	1.000000	0.100000	0.140212	0.100000	0	0.070000	0.160000
NGF	4803	broad.mit.edu	37	1	115828736	115828736	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:115828736C>T	ENST00000369512.2	-	3	849	c.681G>A	c.(679-681)acG>acA	p.T227T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)			13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Clenbuterol(DB01407)	ACACACAGGCCGTATCTATCC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000369512.2	1	1	hg19	CCDS882.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	0	0	0	14	342	1	63	0	0	0	1	1	63	2		0	0	0	0	0	2	0	0.263347	14	332	1	62	18								-2.778537	1	1	121410	7	40	1	1	2	3	2.063257	0	0.560000	1.960000	0.564873	0.140000	7.000000e-02	1.000000	0.140000	0.175429	0.140000	0	0.100000	0.190000
PDE4DIP	9659	broad.mit.edu	37	1	144994654	144994654	+	Missense_Mutation	SNP	G	G	C	rs147804991	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:144994654G>C	ENST00000369354.3	-	1	267	c.78C>G	c.(76-78)atC>atG	p.I26M	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I163M|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I163M|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I26M|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.I163M|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I26M|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I26M|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I92M|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.I26M			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					CCAGGAAGTAGATGCGCAGCT	0.582000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001583	missense			ENST00000369354.3	1	0	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743780	0.89663	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000531369	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.78	4.86	0.63082	Spindle associated (1);	.	.	.	.	T	0.57770	0.2076	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0;0.999;0.999	T	0.64271	-0.6447	9	0.87932	D	0	.	11.8519	0.52415	0.0836:0.0:0.9164:0.0	.	26;92;26;163;92;29;26	Q5VU43-7;Q5VU43-3;Q5VU43;E9PJ64;E9PQH9;E9PS60;Q5VU43-10	.;.;MYOME_HUMAN;.;.;.;.	M	92;26;26;163;163;26;26;92;29;26;163;93	ENSP00000327209:I92M;ENSP00000358360:I26M;ENSP00000358363:I26M;ENSP00000435654:I163M;ENSP00000358366:I163M;ENSP00000358357:I26M;ENSP00000358355:I26M;ENSP00000435920:I29M;ENSP00000358353:I26M;ENSP00000358354:I163M;ENSP00000435616:I93M	ENSP00000327209:I92M	I	-	3	3	PDE4DIP	143706011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.787000	0.62432	2.731000	0.93534	0.650000	0.86243	ATC		TCGA-3A-A9IZ-01A-12D-A40W-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0	43	505	0	115	0	7.796182e-02	0	6	0	115	2		0	0	0	0	0	2	1	1.000000	42	501	0	113	2								-1.263798	0	1	0	0		1	0	1	1	1.975425	0	0.560000	1.960000	0.424686	0.210000	1.500000e-01	0.280000	0.210000	0.217975	0.210000	0	0.180000	0.250000
FLG	2312	broad.mit.edu	37	1	152275642	152275642	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152275642C>T	ENST00000368799.1	-	3	11755	c.11720G>A	c.(11719-11721)cGc>cAc	p.R3907H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GGCTGTATCGCGGTGAGAGGA	0.502000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.164938	0.06502	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.27	-4.54	0.03452	.	.	.	.	.	T	0.00210	0.0006	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42120	-0.9470	9	0.39692	T	0.17	.	4.5721	0.12216	0.1364:0.5422:0.1378:0.1835	.	3907	P20930	FILA_HUMAN	H	3907	ENSP00000357789:R3907H	ENSP00000357789:R3907H	R	-	2	0	FLG	150542266	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.243000	0.08915	-3.346000	0.00182	-3.949000	0.00015	CGC		TCGA-3A-A9IZ-01A-12D-A40W-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	0	20	289	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	0.999995	20	282	0	77	2								-5.705387	1	1	121412	8	42	1	0	0	0	2.018049	0	0.560000	1.960000	0.560000	0.230000	1.400000e-01	0.340000	0.230000	0.240531	0.230000	0	0.180000	0.290000
FLG	2312	broad.mit.edu	37	1	152282178	152282178	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152282178C>A	ENST00000368799.1	-	3	5219	c.5184G>T	c.(5182-5184)gaG>gaT	p.E1728D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GTGTGTCTGACTCTTCTGAGT	0.597000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.187332	0.01620	.	.	ENSG00000143631	ENST00000368799	T	0.00832	5.64	3.81	-4.15	0.03881	.	.	.	.	.	T	0.00073	0.0002	N	0.00690	-1.25	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27606	-1.0069	9	0.12103	T	0.63	.	1.4188	0.02307	0.3032:0.163:0.4043:0.1295	.	1728	P20930	FILA_HUMAN	D	1728	ENSP00000357789:E1728D	ENSP00000357789:E1728D	E	-	3	2	FLG	150548802	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.340000	0.00506	-1.071000	0.03145	-1.906000	0.00525	GAG		TCGA-3A-A9IZ-01A-12D-A40W-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	0	348	897	0	274		0	0	0	0	274	2		0	0	0	0	0	2	1	1.000000	342	880	0	269	2								-20.000000	1	1	0	0		1	0	0	0	2.018049	0	0.560000	1.960000	0.560000	0.990000	9.000000e-01	1.000000	1.000000	0.981097	0.990000	1	0.940000	1.000000
TBX19	9095	broad.mit.edu	37	1	168262442	168262442	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168262442G>C	ENST00000367821.3	+	3	580	c.529G>C	c.(529-531)Gcc>Ccc	p.A177P		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19			34	all_hematologic(923;0.215)				TGTTGGAAGTGCCCATCGAAT	0.463000																								0							SO:0001583	missense			ENST00000367821.3	0	1	hg19	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.307|2.307	-0.358921|-0.358921	0.05138|0.05138	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.88124|.	-2.34|.	5.02|5.02	0.2|0.2	0.15181|0.15181	p53-like transcription factor, DNA-binding (1);|.	0.552786|.	0.18396|.	N|.	0.142516|.	T|T	0.02230|0.02230	0.0069|0.0069	N|N	0.02420|0.02420	-0.555|-0.555	.|.	.|.	.|.	B;B|.	0.10296|.	0.001;0.003|.	B;B|.	0.08055|.	0.002;0.003|.	T|T	0.40683|0.40683	-0.9550|-0.9550	9|4	0.27785|.	T|.	0.31|.	.|.	0.0479|0.0479	0.00011|0.00011	0.2718:0.1897:0.2341:0.3044|0.2718:0.1897:0.2341:0.3044	.|.	177;108|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	P|S	177;117|109	ENSP00000356795:A177P|.	ENSP00000356795:A177P|.	A|C	+|+	1|2	0|0	TBX19|TBX19	166529066|166529066	0.000000|0.000000	0.05858|0.05858	0.588000|0.588000	0.28705|0.28705	0.461000|0.461000	0.32589|0.32589	0.244000|0.244000	0.18124|0.18124	0.447000|0.447000	0.26695|0.26695	0.563000|0.563000	0.77884|0.77884	GCC|TGC		TCGA-3A-A9IZ-01A-12D-A40W-08	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	0	0	0	9	363	0	47	0	4.508221e-03	0	4	0	47	2		0	0	0	0	0	2	1	0.993919	9	357	0	45	2								-3.484213	1	1	0	0		1	1	2	3	2.595994	1	0.560000	1.960000	0.656250	0.110000	4.000000e-02	0.200000	0.120000	0.122046	0.110000	0	0.070000	0.160000
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	p.T111T(1)		8	all_hematologic(923;0.215)				AGCCAGTCAGGGTCACAGCTG	0.498000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000367819.2	0	1	hg19	CCDS1273.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	0	0	0	8	267	1	36		0	0	0	1	36	2		0	0	0	0	0	2	0	0.006145	8	265	1	36	22								-2.050794	0	1	121390	46	36	1	1	2	3	2.595994	1	0.560000	1.960000	0.656250	0.130000	5.000000e-02	0.250000	0.130000	0.148240	0.130000	0	0.090000	0.200000
ZSCAN20	7579	broad.mit.edu	37	1	33957115	33957115	+	Silent	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:33957115T>C	ENST00000361328.3	+	6	1410	c.1257T>C	c.(1255-1257)gaT>gaC	p.D419D	ZSCAN20_ENST00000373413.2_Silent_p.D365D	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20			31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)			GAGCCACAGATGGCCCAGGAG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000361328.3	1	1	hg19	CCDS41300.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	1	0	1	55	163	0	42	0	1.626513e-01	1	2	0	42	2		0	0	0	0	0	2	1	1.000000	54	157	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.063257	0	0.560000	1.960000	0.564873	0.910000	7.100000e-01	1.000000	1.000000	0.905407	0.910000	1	0.800000	1.000000
CSMD2	114784	broad.mit.edu	37	1	34383705	34383705	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:34383705A>T	ENST00000373381.4	-	5	1086	c.910T>A	c.(910-912)Tcc>Acc	p.S304T		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)			CAGAGGGAGGAGCCTTCTGTC	0.537000																								0							SO:0001583	missense			ENST00000373381.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.17	1.276798	0.23307	.	.	ENSG00000121904	ENST00000373381	D	0.87650	-2.28	5.48	4.36	0.52297	CUB (5);	0.072866	0.56097	D	0.000029	T	0.80237	0.4586	N	0.20483	0.58	0.80722	D	1	P;B	0.36183	0.542;0.354	P;B	0.44921	0.464;0.183	T	0.74668	-0.3588	10	0.14656	T	0.56	.	10.0631	0.42286	0.9216:0.0:0.0784:0.0	.	264;304	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	304	ENSP00000362479:S304T	ENSP00000241312:S264T	S	-	1	0	CSMD2	34156292	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.738000	0.55067	2.095000	0.63458	0.391000	0.25812	TCC		TCGA-3A-A9IZ-01A-12D-A40W-08	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	38	121	0	23	0	1.444715e-01	0	3	0	23	2		0	0	0	0	0	2	1	1.000000	37	120	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.063257	0	0.560000	1.960000	0.564873	0.860000	6.400000e-01	1.000000	1.000000	0.864874	0.860000	1	0.740000	1.000000
ZCCHC11	23318	broad.mit.edu	37	1	52933891	52933891	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:52933891A>G	ENST00000371544.3	-	15	3189	c.2927T>C	c.(2926-2928)tTa>tCa	p.L976S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L976S|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11			58					CAAGCCAATTAAAATTTGCTC	0.308000																								0							SO:0001583	missense			ENST00000371544.3	0	1	hg19	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157006	0.78114	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.48	5.48	0.80851	.	0.076139	0.53938	D	0.000052	T	0.66346	0.2780	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.946;0.999	T	0.64980	-0.6279	10	0.34782	T	0.22	.	15.5436	0.76077	1.0:0.0:0.0:0.0	.	735;976	E9PKX1;Q5TAX3	.;TUT4_HUMAN	S	976;976;905;735	ENSP00000257177:L976S;ENSP00000360599:L976S;ENSP00000433486:L905S;ENSP00000435256:L735S	ENSP00000257177:L976S	L	-	2	0	ZCCHC11	52706479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.449000	0.80643	2.076000	0.62316	0.378000	0.23410	TTA		TCGA-3A-A9IZ-01A-12D-A40W-08	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	0	0	0	4	226	0	46	0	3.009883e-02	0	12	0	46	2		0	0	0	0	0	2	1	0.889083	4	224	0	45	2								-6.044622	1	0	0	0		1	1	2	3	2.063257	0	0.560000	1.960000	0.564873	0.060000	1.000000e-02	1.000000	0.060000	0.104075	0.060000	0	0.030000	0.120000
ST6GALNAC5	81849	broad.mit.edu	37	1	77528872	77528872	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:77528872A>G	ENST00000477717.1	+	5	1227	c.992A>G	c.(991-993)gAg>gGg	p.E331G		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5			18					AATCATCCTGAGAATAAACCT	0.433000																								0							SO:0001583	missense			ENST00000477717.1	1	1	hg19	CCDS673.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.826269	0.32329	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.34667	1.35	5.93	5.93	0.95920	.	0.501717	0.22376	N	0.060873	T	0.14960	0.0361	L	0.36672	1.1	0.36892	D	0.889957	B	0.21606	0.058	B	0.23419	0.046	T	0.08146	-1.0736	10	0.23302	T	0.38	-11.5623	11.4604	0.50206	0.8657:0.0:0.0:0.1343	.	331	Q9BVH7	SIA7E_HUMAN	G	331;241	ENSP00000417583:E331G	ENSP00000406658:E241G	E	+	2	0	ST6GALNAC5	77301460	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	3.139000	0.50577	2.267000	0.75376	0.533000	0.62120	GAG		TCGA-3A-A9IZ-01A-12D-A40W-08	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	1	0	1	69	195	0	47	0	3.926561e-01	0	5	0	47	2		0	0	0	0	0	2	1	1.000000	65	194	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.063257	0	0.560000	1.960000	0.564873	0.940000	7.500000e-01	1.000000	1.000000	0.931131	0.940000	1	0.840000	1.000000
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12			36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)		CCTGCACTGGGCATTCCCGCA	0.557000																								0							SO:0001583	missense			ENST00000374114.3	0	1	hg19	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		TCGA-3A-A9IZ-01A-12D-A40W-08	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	0	0	7	442	0	141	0	2.841551e-01	0	59	0	141	2		0	0	0	0	0	2	1	0.979506	7	435	0	138	2								-2.191687	0	1	0	0		1	0	0	0	2.022515	0	0.560000	1.960000	0.560000	0.050000	1.000000e-02	0.110000	0.060000	0.063263	0.050000	0	0.030000	0.090000
WDR33	55339	broad.mit.edu	37	2	128471486	128471486	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:128471486G>A	ENST00000322313.4	-	18	3137	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33			39	Colorectal(110;0.1)				TGCAGTCCTGGCCACCCCGGA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000322313.4	1	1	hg19	CCDS2150.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	0	0	0	18	552	0	118	0	2.794856e-02	0	8	0	118	2		0	0	0	0	0	2	1	0.999980	17	544	0	116	2								-3.165678	1	1	0	0		1	1	2	3	2.031267	0	0.560000	1.960000	0.561229	0.110000	6.000000e-02	0.180000	0.120000	0.118802	0.110000	0	0.080000	0.150000
POTEE	445582	broad.mit.edu	37	2	131984442	131984442	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:131984442A>C	ENST00000356920.5	+	4	951	c.857A>C	c.(856-858)cAa>cCa	p.Q286P	POTEE_ENST00000358087.5_Missense_Mutation_p.Q296P|RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E								CAAAAACAGCAAGTCGTGAAA	0.328000																								0							SO:0001583	missense			ENST00000356920.5	0	1	hg19	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320219	0.23994	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.63744	0.63;-0.06	1.16	1.16	0.20824	Ankyrin repeat-containing domain (4);	3.765040	0.01962	U	0.043420	T	0.60495	0.2273	L	0.33668	1.02	0.09310	N	1	D	0.63880	0.993	P	0.51355	0.667	T	0.51371	-0.8714	10	0.87932	D	0	.	4.5417	0.12061	1.0:0.0:0.0:0.0	.	286	Q6S8J3	POTEE_HUMAN	P	286;296	ENSP00000439189:Q286P;ENSP00000443049:Q296P	ENSP00000439189:Q286P	Q	+	2	0	AC131180.1	131700912	0.229000	0.23729	0.024000	0.17045	0.083000	0.17756	1.857000	0.39399	0.784000	0.33661	0.136000	0.15936	CAA		TCGA-3A-A9IZ-01A-12D-A40W-08	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	40	788	0	169		0	0	0	0	169	2		0	0	0	0	0	2	1	1.000000	30	595	0	180	2								-20.000000	1	1	0	0		1	1	2	3	2.031267	0	0.560000	1.960000	0.561229	0.170000	1.200000e-01	0.240000	0.180000	0.176745	0.170000	0	0.140000	0.200000
GALNT5	11227	broad.mit.edu	37	2	158157419	158157419	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:158157419C>G	ENST00000259056.4	+	7	2832	c.2347C>G	c.(2347-2349)Ctg>Gtg	p.L783V	GALNT5_ENST00000463418.1_3'UTR|RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5			56					GCAAAGGGAGCTGCGAAAGAA	0.498000																								0							SO:0001583	missense			ENST00000259056.4	1	1	hg19	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296112	0.81025	.	.	ENSG00000136542	ENST00000259056	T	0.57907	0.37	5.54	4.65	0.58169	.	0.069082	0.56097	D	0.000030	T	0.69646	0.3134	M	0.79011	2.435	0.53688	D	0.999977	D	0.63880	0.993	P	0.62435	0.902	T	0.74293	-0.3712	10	0.87932	D	0	.	13.1441	0.59450	0.0:0.921:0.0:0.079	.	783	Q7Z7M9	GALT5_HUMAN	V	783	ENSP00000259056:L783V	ENSP00000259056:L783V	L	+	1	2	GALNT5	157865665	0.998000	0.40836	0.970000	0.41538	0.994000	0.84299	3.340000	0.52143	1.305000	0.44909	0.563000	0.77884	CTG		TCGA-3A-A9IZ-01A-12D-A40W-08	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	1	0	1	52	127	0	31	1	9.999784e-01	21	22	0	31	2		0	0	0	0	0	2	1	1.000000	50	127	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.031267	0	0.560000	1.960000	0.561229	0.990000	8.100000e-01	1.000000	1.000000	0.971169	0.990000	1	0.910000	1.000000
GRB14	2888	broad.mit.edu	37	2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000497306.1_5'Flank|GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14			32					TTCTTCAACCGCAACTGAAAG	0.393000																								0							SO:0001583	missense			ENST00000263915.3	0	1	hg19	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400675	0.96030	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.39229	1.67;1.75;1.09	5.81	5.81	0.92471	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.68051	-0.5511	10	0.59425	D	0.04	-15.2997	20.0825	0.97783	0.0:0.0:1.0:0.0	.	312;399	B7Z7F9;Q14449	.;GRB14_HUMAN	V	399;312;354	ENSP00000263915:A399V;ENSP00000443699:A312V;ENSP00000416786:A354V	ENSP00000263915:A399V	A	-	2	0	GRB14	165062155	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCG		TCGA-3A-A9IZ-01A-12D-A40W-08	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2	0	0	0	5	501	1	95	0	2.327568e-03	0	6	1	95	2		0	0	0	0	0	2	0	0.004254	5	492	1	95	18								-2.049023	0	1	121412	1	31	1	1	2	3	2.031267	0	0.560000	1.960000	0.561229	0.030000	0	0.080000	0.040000	0.041869	0.030000	0	0.010000	0.060000
ATAD2B	54454	broad.mit.edu	37	2	24051724	24051724	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:24051724C>T	ENST00000238789.5	-	15	2157	c.1814G>A	c.(1813-1815)tGt>tAt	p.C605Y	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B			1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTCACCAACACATTTTTCAGC	0.368000																								0							SO:0001583	missense			ENST00000238789.5	1	1	hg19	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287448	0.80803	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.94862	-3.54;-1.68	4.85	4.85	0.62838	.	.	.	.	.	D	0.96784	0.8950	M	0.82056	2.57	0.80722	D	1	P	0.52170	0.951	P	0.58077	0.832	D	0.97225	0.9880	9	0.72032	D	0.01	.	18.8549	0.92247	0.0:1.0:0.0:0.0	.	605	Q9ULI0	ATD2B_HUMAN	Y	605;43	ENSP00000238789:C605Y;ENSP00000392764:C43Y	ENSP00000238789:C605Y	C	-	2	0	ATAD2B	23905228	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.730000	0.84881	2.632000	0.89209	0.650000	0.86243	TGT		TCGA-3A-A9IZ-01A-12D-A40W-08	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	1	0	0	62	151	0	36	0	3.364988e-01	0	4	0	36	2		0	0	0	0	0	2	1	1.000000	62	150	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.029649	0	0.560000	1.960000	0.561229	0.990000	8.300000e-01	1.000000	1.000000	0.975261	0.990000	1	0.930000	1.000000
DNMT3A	1788	broad.mit.edu	37	2	25468126	25468126	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:25468126C>G	ENST00000264709.3	-	13	1887	c.1550G>C	c.(1549-1551)tGc>tCc	p.C517S	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C328S|DNMT3A_ENST00000402667.1_Missense_Mutation_p.C294S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C517S	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)				TCCTACCTTGCAGTTTTGGCA	0.597000			Mis, F, N, S		AML										Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0							SO:0001583	missense			ENST00000264709.3	1	1	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078236	0.94000	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	5.27	0.74061	.	0.095869	0.64402	D	0.000001	T	0.57932	0.2087	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.981	T	0.61048	-0.7141	10	0.72032	D	0.01	-8.9535	16.4462	0.83935	0.0:1.0:0.0:0.0	.	517;328	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	S	328;517;517;294	ENSP00000370122:C328S;ENSP00000324375:C517S;ENSP00000264709:C517S;ENSP00000384237:C294S	ENSP00000264709:C517S	C	-	2	0	DNMT3A	25321630	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.788000	0.69020	2.735000	0.93741	0.655000	0.94253	TGC		TCGA-3A-A9IZ-01A-12D-A40W-08	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	1	0	1	30	88	0	13	1	9.336265e-01	3	13	0	13	2		0	0	0	0	0	2	1	1.000000	29	85	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.029649	0	0.560000	1.960000	0.561229	0.900000	6.500000e-01	1.000000	1.000000	0.893152	0.900000	1	0.770000	1.000000
STON1	11037	broad.mit.edu	37	2	48808480	48808480	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:48808480C>T	ENST00000406226.1	+	3	903	c.708C>T	c.(706-708)ctC>ctT	p.L236L	STON1_ENST00000404752.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L236L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L236L|STON1_ENST00000309835.3_Silent_p.L236L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L236L	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1			37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		TTGAACATCTCCAGTCAGCTG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000406226.1	1	1	hg19	CCDS1841.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	1	0	0	46	412	0	92	0	1.059244e-02	0	2	0	92	2		0	0	0	0	0	2	1	1.000000	46	405	0	91	2								-3.142702	1	1	0	0		1	1	2	3	2.596143	1	0.560000	1.960000	0.654739	0.450000	3.300000e-01	0.610000	0.450000	0.469748	0.450000	0	0.390000	0.530000
MYH15	22989	broad.mit.edu	37	3	108149680	108149680	+	Splice_Site	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:108149680T>G	ENST00000273353.3	-	27	3427	c.3371A>C	c.(3370-3372)cAg>cCg	p.Q1124P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15			105					ATTGATTACCTGAAGCTCTTT	0.368000																								0							SO:0001630	splice_region_variant			ENST00000273353.3	1	0	hg19	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116301	0.37339	.	.	ENSG00000144821	ENST00000273353	T	0.80214	-1.35	5.35	1.36	0.22044	Myosin tail (1);	.	.	.	.	D	0.88844	0.6547	M	0.89534	3.04	0.42303	D	0.992189	D	0.89917	1.0	D	0.97110	1.0	D	0.86321	0.1692	9	0.87932	D	0	.	5.6809	0.17776	0.2619:0.0733:0.0:0.6647	.	1124	Q9Y2K3	MYH15_HUMAN	P	1124	ENSP00000273353:Q1124P	ENSP00000273353:Q1124P	Q	-	2	0	MYH15	109632370	1.000000	0.71417	0.061000	0.19648	0.016000	0.09150	3.060000	0.49955	0.412000	0.25729	0.528000	0.53228	CAG		TCGA-3A-A9IZ-01A-12D-A40W-08	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	1	82	196	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1.000000	81	193	0	63	2								-20.000000	1	1	0	0		1	0	0	0	2.022823	0	0.560000	1.960000	0.560000	0.990000	8.600000e-01	1.000000	1.000000	0.983167	0.990000	1	0.950000	1.000000
XPC	7508	broad.mit.edu	37	3	14209834	14209834	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:14209834G>A	ENST00000285021.7	-	4	673	c.459C>T	c.(457-459)ttC>ttT	p.F153F	XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C			22					GAGATCGAGAGAAGGCTGTAC	0.418000			Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000285021.7	1	1	hg19	CCDS46763.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	1	0	1	46	158	0	36	1	9.006246e-01	4	12	0	36	2		0	0	0	0	0	2	1	1.000000	45	156	0	36	2								-4.093461	1	1	0	0		1	0	0	0	2.025163	0	0.560000	1.960000	0.560000	0.800000	6.100000e-01	1.000000	1.000000	0.809842	0.800000	0	0.700000	0.910000
FNDC3B	64778	broad.mit.edu	37	3	172028627	172028627	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:172028627G>C	ENST00000336824.4	+	11	1309	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B			69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		GGCACCAATTGACAACGGTTC	0.343000																								0							SO:0001583	missense			ENST00000336824.4	1	1	hg19	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754948	0.89843	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.58940	0.3;0.3;0.3	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.987	D	0.84606	0.0675	10	0.87932	D	0	-29.8321	19.8634	0.96793	0.0:0.0:1.0:0.0	.	404;404	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	H	404	ENSP00000411242:D404H;ENSP00000338523:D404H;ENSP00000389094:D404H	ENSP00000338523:D404H	D	+	1	0	FNDC3B	173511321	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.709000	0.91379	2.800000	0.96347	0.591000	0.81541	GAC		TCGA-3A-A9IZ-01A-12D-A40W-08	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	0	0	0	31	752	1	117	0	3.389468e-01	4	112	1	117	6		0	0	0	0	0	2	1	0.911797	31	743	1	113	22								-4.086988	1	1	0	0		1	1	2	3	2.633929	1	0.560000	1.960000	0.656250	0.170000	1.100000e-01	0.250000	0.180000	0.186221	0.170000	0	0.140000	0.220000
RPL15	6138	broad.mit.edu	37	3	23959499	23959499	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:23959499G>C	ENST00000307839.5	+	2	788	c.149G>C	c.(148-150)cGa>cCa	p.R50P	NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|RPL15_ENST00000435882.1_Missense_Mutation_p.R50P|RPL15_ENST00000415719.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000415901.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank|RPL15_ENST00000456530.2_Missense_Mutation_p.R50P|NKIRAS1_ENST00000425478.2_5'Flank|RPL15_ENST00000354811.5_Missense_Mutation_p.R50P|RPL15_ENST00000413699.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000443659.2_5'Flank	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15			7					AAAGCGCGCCGACTGGGCTAC	0.557000																								0							SO:0001583	missense			ENST00000307839.5	0	1	hg19	CCDS2640.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133108	0.77662	.	.	ENSG00000174748	ENST00000307839;ENST00000422218;ENST00000434031;ENST00000413699;ENST00000456530;ENST00000412097;ENST00000510788;ENST00000435882;ENST00000415719;ENST00000354811	.	.	.	5.77	5.77	0.91146	Ribosomal protein L15e, conserved site (1);Ribosomal protein L23/L15e (1);	0.000000	0.85682	U	0.000000	D	0.90068	0.6898	H	0.96720	3.87	0.80722	D	1	B;D;B;D	0.60160	0.013;0.987;0.092;0.965	B;D;B;D	0.71656	0.094;0.97;0.155;0.974	D	0.92718	0.6189	9	0.87932	D	0	.	20.0007	0.97408	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DEN1;B4DLP4;Q642I1;P61313	.;.;.;RL15_HUMAN	P	50	.	ENSP00000309334:R50P	R	+	2	0	RPL15	23934503	1.000000	0.71417	0.995000	0.50966	0.515000	0.34225	7.956000	0.87863	2.726000	0.93360	0.650000	0.86243	CGA		TCGA-3A-A9IZ-01A-12D-A40W-08	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	0	0	0	5	201	0	36	1	9.999850e-01	31	1533	0	36	2		0	0	0	0	0	2	1	0.932476	4	195	0	39	2								-6.459283	1	0	0	0		1	0	0	0	2.025163	0	0.560000	1.960000	0.560000	0.090000	3.000000e-02	0.190000	0.080000	0.102615	0.090000	0	0.050000	0.140000
SEMA3G	56920	broad.mit.edu	37	3	52471991	52471991	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:52471991C>G	ENST00000231721.2	-	14	1733	c.1734G>C	c.(1732-1734)caG>caC	p.Q578H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G			18					ACTCACCTTCCTGGCTCTGGC	0.672000																								0							SO:0001583	missense			ENST00000231721.2	0	1	hg19	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809149	0.31961	.	.	ENSG00000010319	ENST00000231721	T	0.30714	1.52	5.09	3.22	0.36961	Immunoglobulin-like (1);	0.329295	0.29225	N	0.012777	T	0.15565	0.0375	N	0.08118	0	0.22266	N	0.999244	B	0.02656	0.0	B	0.10450	0.005	T	0.17561	-1.0365	10	0.38643	T	0.18	.	10.4033	0.44241	0.0:0.7738:0.146:0.0801	.	578	Q9NS98	SEM3G_HUMAN	H	578	ENSP00000231721:Q578H	ENSP00000231721:Q578H	Q	-	3	2	SEMA3G	52447031	0.001000	0.12720	0.978000	0.43139	0.977000	0.68977	0.311000	0.19380	1.388000	0.46506	0.655000	0.94253	CAG		TCGA-3A-A9IZ-01A-12D-A40W-08	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	1	0	0	4	118	0	24	0	1.060836e-02	1	3	0	24	2		0	0	0	0	0	2	1	0.885718	4	116	0	23	2								-6.992705	1	1	0	0		1	0	0	0	2.022823	0	0.560000	1.960000	0.560000	0.120000	4.000000e-02	0.280000	0.120000	0.143070	0.120000	0	0.070000	0.200000
SLC12A2	6558	broad.mit.edu	37	5	127488461	127488461	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:127488461G>A	ENST00000262461.2	+	15	2516	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2			48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CATTCAATTCGTCTTTCTGGA	0.413000																								0							SO:0001583	missense			ENST00000262461.2	1	1	hg19	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070173	0.55539	4.54E-4	0.0	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98792	-5.14;-5.14	5.27	5.27	0.74061	Amino acid permease domain (1);	0.215343	0.46758	D	0.000270	D	0.97383	0.9144	L	0.56199	1.76	0.58432	D	0.999999	B;B	0.19445	0.029;0.036	B;B	0.19148	0.014;0.024	D	0.95103	0.8232	10	0.42905	T	0.14	.	19.0718	0.93140	0.0:0.0:1.0:0.0	.	776;776	P55011-3;P55011	.;S12A2_HUMAN	H	776	ENSP00000262461:R776H;ENSP00000340878:R776H	ENSP00000262461:R776H	R	+	2	0	SLC12A2	127516360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.777000	0.55364	2.746000	0.94184	0.460000	0.39030	CGT		TCGA-3A-A9IZ-01A-12D-A40W-08	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	1	0	1	93	291	0	84	1	9.999978e-01	27	34	0	84	2		0	0	0	0	0	2	1	1.000000	91	286	0	82	2								-20.000000	1	1	121412	3	38	1	1	2	3	2.046659	0	0.560000	1.960000	0.562450	0.860000	7.100000e-01	1.000000	1.000000	0.872082	0.860000	1	0.790000	0.950000
PCDHGB7	56099	broad.mit.edu	37	5	140799066	140799066	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:140799066G>C	ENST00000398594.2	+	1	1640	c.1640G>C	c.(1639-1641)aGc>aCc	p.S547T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7			56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCCAATGTGAGCCTGCGCGTG	0.711000																								0							SO:0001583	missense			ENST00000398594.2	1	1	hg19	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	8.119	0.780447	0.16120	.	.	ENSG00000254122	ENST00000398594	T	0.46819	0.86	5.38	4.49	0.54785	Cadherin (5);Cadherin-like (1);	0.234553	0.20219	U	0.096729	T	0.20170	0.0485	N	0.01424	-0.875	0.21325	N	0.999726	P;B	0.35107	0.484;0.208	B;B	0.38225	0.268;0.108	T	0.13845	-1.0494	10	0.16896	T	0.51	.	8.4342	0.32778	0.0:0.3785:0.4932:0.1283	.	547;547	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	547	ENSP00000381594:S547T	ENSP00000381594:S547T	S	+	2	0	PCDHGB7	140779250	0.000000	0.05858	1.000000	0.80357	0.968000	0.65278	0.243000	0.18106	2.513000	0.84729	0.491000	0.48974	AGC		TCGA-3A-A9IZ-01A-12D-A40W-08	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	1	0	1	58	169	0	55	0	0	0	1	0	55	2		0	0	0	0	0	2	1	1.000000	58	166	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.046659	0	0.560000	1.960000	0.562450	0.910000	7.200000e-01	1.000000	1.000000	0.908974	0.910000	1	0.810000	1.000000
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		ACCATGGGCCGGGATCACATT	0.453000																								0							SO:0001583	missense			ENST00000256935.8	1	1	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350030	0.82132	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T	0.68331	-0.32;-0.32	5.28	5.28	0.74379	.	0.120890	0.56097	D	0.000022	T	0.65481	0.2695	M	0.71036	2.16	0.80722	D	1	P;P	0.52061	0.95;0.67	B;B	0.40864	0.342;0.098	T	0.67597	-0.5630	10	0.30854	T	0.27	.	15.8081	0.78531	0.0:0.0:1.0:0.0	.	420;928	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	928;309;420;132	ENSP00000256935:R928Q;ENSP00000429283:R420Q	ENSP00000256935:R928Q	R	+	2	0	DOCK2	169200418	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	6.268000	0.72552	2.460000	0.83146	0.585000	0.79938	CGG		TCGA-3A-A9IZ-01A-12D-A40W-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1	38	123	0	30	0	5.835703e-02	0	2	0	30	2		0	0	0	0	0	2	1	1.000000	37	122	0	30	2								-3.899043	1	1	121402	2	29	1	1	2	3	2.046659	0	0.560000	1.960000	0.562450	0.840000	6.200000e-01	1.000000	1.000000	0.849328	0.840000	0	0.730000	0.980000
ADAMTS2	9509	broad.mit.edu	37	5	178585787	178585787	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:178585787C>T	ENST00000251582.7	-	6	1170	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D357N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2			72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TGGTATTCATCGTGGCCCGTG	0.612000																								0							SO:0001583	missense			ENST00000251582.7	1	1	hg19	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780745	0.31502	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.62788	0.0;0.0	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.373747	0.22328	N	0.061514	T	0.51686	0.1689	L	0.31476	0.935	0.41488	D	0.988209	D;P	0.56035	0.974;0.874	B;B	0.39503	0.301;0.254	T	0.54200	-0.8329	10	0.35671	T	0.21	.	18.8826	0.92362	0.0:1.0:0.0:0.0	.	357;357	O95450-2;O95450	.;ATS2_HUMAN	N	357	ENSP00000251582:D357N;ENSP00000274609:D357N	ENSP00000251582:D357N	D	-	1	0	ADAMTS2	178518393	1.000000	0.71417	0.556000	0.28293	0.068000	0.16541	5.858000	0.69532	2.695000	0.91970	0.650000	0.86243	GAT		TCGA-3A-A9IZ-01A-12D-A40W-08	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	1	0	1	105	273	0	73	1	9.999998e-01	2	60	0	73	2		0	0	0	0	0	2	1	1.000000	100	269	0	70	2								-7.055285	1	0	121412	5	39	1	1	2	3	2.046659	0	0.560000	1.960000	0.562450	0.990000	8.300000e-01	1.000000	1.000000	0.967202	0.990000	1	0.910000	1.000000
ADAMTS12	81792	broad.mit.edu	37	5	33881302	33881302	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:33881302G>A	ENST00000504830.1	-	2	746	c.411C>T	c.(409-411)ccC>ccT	p.P137P	ADAMTS12_ENST00000352040.3_Silent_p.P137P|ADAMTS12_ENST00000515401.1_Silent_p.P137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					GATGGCAGAGGGGGGCAGAGG	0.532000										HNSCC(64;0.19)														0							SO:0001819	synonymous_variant			ENST00000504830.1	0	1	hg19	CCDS34140.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	0	0	0	5	229	0	46	0	1.467768e-01	0	26	0	46	2		0	0	0	0	0	2	1	0.933862	5	223	0	44	2								-3.287924	1	1	121412	2	35	1	1	2	3	2.049225	0	0.560000	1.960000	0.562450	0.080000	2.000000e-02	0.190000	0.080000	0.099910	0.080000	0	0.040000	0.130000
NIPBL	25836	broad.mit.edu	37	5	37022228	37022228	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:37022228G>A	ENST00000282516.8	+	28	5903	c.5404G>A	c.(5404-5406)Gta>Ata	p.V1802I	NIPBL_ENST00000448238.2_Missense_Mutation_p.V1802I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		GGTTGTTGCTGTAGACCCCAG	0.358000																								0							SO:0001583	missense			ENST00000282516.8	0	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353414	0.82243	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.87334	-2.24;-2.24	5.24	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89818	0.6825	L	0.40543	1.245	0.58432	D	0.999992	D;D	0.64830	0.992;0.994	D;D	0.68483	0.958;0.948	D	0.88745	0.3246	10	0.34782	T	0.22	.	16.1087	0.81244	0.0:0.1342:0.8658:0.0	.	1802;1802	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	1802	ENSP00000282516:V1802I;ENSP00000406266:V1802I	ENSP00000282516:V1802I	V	+	1	0	NIPBL	37057985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.384000	0.97219	1.300000	0.44818	0.650000	0.86243	GTA		TCGA-3A-A9IZ-01A-12D-A40W-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	0	0	0	5	212	0	50	0	2.500449e-01	0	35	0	50	2		0	0	0	0	0	2	1	0.937507	5	211	0	47	2								-3.336058	1	1	0	0		1	1	2	3	2.049225	0	0.560000	1.960000	0.562450	0.080000	2.000000e-02	0.200000	0.080000	0.106880	0.080000	0	0.050000	0.140000
HCN1	348980	broad.mit.edu	37	5	45262090	45262090	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:45262090C>T	ENST00000303230.4	-	8	2663	c.2606G>A	c.(2605-2607)aGa>aAa	p.R869K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1			156					GGAAGATTCTCTTGGAAGAGC	0.537000																								0							SO:0001583	missense			ENST00000303230.4	1	1	hg19	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	c	9.791	1.177962	0.21787	2.27E-4	0.0	ENSG00000164588	ENST00000303230	D	0.97575	-4.44	4.87	4.87	0.63330	.	0.082787	0.49305	D	0.000148	D	0.90865	0.7130	N	0.04880	-0.145	0.36584	D	0.873737	B	0.09022	0.002	B	0.09377	0.004	D	0.88891	0.3346	10	0.36615	T	0.2	.	11.8404	0.52350	0.0:0.9193:0.0:0.0807	.	869	O60741	HCN1_HUMAN	K	869	ENSP00000307342:R869K	ENSP00000307342:R869K	R	-	2	0	HCN1	45297847	1.000000	0.71417	0.996000	0.52242	0.361000	0.29550	1.995000	0.40767	2.399000	0.81585	0.651000	0.88453	AGA		TCGA-3A-A9IZ-01A-12D-A40W-08	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	1	0	1	173	392	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1.000000	170	382	0	101	2								-11.834740	1	1	121412	3	38	1	1	2	3	2.049225	0	0.560000	1.960000	0.562450	0.990000	9.600000e-01	1.000000	1.000000	0.997852	0.990000	1	0.990000	1.000000
SLC9A3	6550	broad.mit.edu	37	5	476656	476656	+	Splice_Site	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:476656A>G	ENST00000264938.3	-	12	1900		c.e12+1		CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Splice_Site|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3			37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		CGCAGTGCCCACCTCCTGCCG	0.701000																								0							SO:0001630	splice_region_variant			ENST00000264938.3	1	1	hg19	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781915	0.31502	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0046	0.64456	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9A3	529656	1.000000	0.71417	0.988000	0.46212	0.288000	0.27193	4.943000	0.63554	1.799000	0.52666	0.459000	0.35465	.		TCGA-3A-A9IZ-01A-12D-A40W-08	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	0	0	0	8	139	0	22	0	8.434371e-02	0	8	0	22	2		0	0	0	0	0	2	1	0.987794	7	133	0	21	2								-12.020620	1	1	0	0		1	1	2	3	2.603320	1	0.560000	1.960000	0.656250	0.260000	1.200000e-01	0.460000	0.240000	0.275145	0.260000	0	0.180000	0.360000
KIAA0319	9856	broad.mit.edu	37	6	24582552	24582552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:24582552C>T	ENST00000378214.3	-	6	1640	c.1116G>A	c.(1114-1116)tgG>tgA	p.W372*	KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*|KIAA0319_ENST00000535378.1_Nonsense_Mutation_p.W363*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319			53					TTATTAAATTCCATTCATAGT	0.388000																								0							SO:0001587	stop_gained			ENST00000378214.3	0	1	hg19	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	39	7.560686	0.98358	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	.	.	.	4.22	4.22	0.49857	.	0.084787	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3723	16.7793	0.85559	0.0:1.0:0.0:0.0	.	.	.	.	X	372;363;327;372;372	.	ENSP00000367459:W372X	W	-	3	0	KIAA0319	24690531	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.029000	0.70895	2.156000	0.67533	0.484000	0.47621	TGG		TCGA-3A-A9IZ-01A-12D-A40W-08	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	1	0	0	134	355	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1.000000	133	351	0	91	2								-20.000000	1	1	0	0		1	0	0	0	2.023190	0	0.560000	1.960000	0.560000	0.970000	8.300000e-01	1.000000	1.000000	0.960227	0.970000	1	0.900000	1.000000
PPP1R3A	5506	broad.mit.edu	37	7	113518053	113518053	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:113518053C>G	ENST00000284601.3	-	4	3162	c.3094G>C	c.(3094-3096)Gta>Cta	p.V1032L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A			121					CCAGAGCTTACTAATCCTTCA	0.403000																								0							SO:0001583	missense			ENST00000284601.3	1	1	hg19	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.552420	0.00918	.	.	ENSG00000154415	ENST00000284601	T	0.14391	2.51	5.71	-1.44	0.08856	.	0.595751	0.16550	N	0.209508	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28299	-1.0048	10	0.56958	D	0.05	0.0241	0.9691	0.01412	0.2108:0.1318:0.2531:0.4042	.	1032	Q16821	PPR3A_HUMAN	L	1032	ENSP00000284601:V1032L	ENSP00000284601:V1032L	V	-	1	0	PPP1R3A	113305289	0.002000	0.14202	0.000000	0.03702	0.120000	0.20174	-0.006000	0.12833	-0.436000	0.07254	-0.300000	0.09419	GTA		TCGA-3A-A9IZ-01A-12D-A40W-08	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	1	163	484	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1.000000	160	478	0	148	2								-20.000000	1	1	0	0		1	0	0	0	2.017843	0	0.560000	1.960000	0.560000	0.890000	7.700000e-01	1.000000	1.000000	0.899845	0.890000	1	0.830000	0.960000
CREB5	9586	broad.mit.edu	37	7	28610110	28610110	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:28610110C>A	ENST00000357727.2	+	5	809	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	CREB5_ENST00000396300.2_Missense_Mutation_p.S133Y|CREB5_ENST00000409603.1_Missense_Mutation_p.S107Y|CREB5_ENST00000396299.2_Missense_Mutation_p.S107Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5			32					TCGCCTCAGTCCAGCTCTGTC	0.622000																								0							SO:0001583	missense			ENST00000357727.2	1	1	hg19	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916836	0.73098	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.66460	-0.21;-0.21;-0.2;-0.21	5.45	5.45	0.79879	.	0.100681	0.64402	D	0.000001	D	0.82318	0.5011	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.83827	0.0250	10	0.72032	D	0.01	-14.944	19.2936	0.94112	0.0:1.0:0.0:0.0	.	140	Q02930	CREB5_HUMAN	Y	107;140;133;107	ENSP00000379593:S107Y;ENSP00000350359:S140Y;ENSP00000379594:S133Y;ENSP00000387197:S107Y	ENSP00000350359:S140Y	S	+	2	0	CREB5	28576635	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.205000	0.77881	2.583000	0.87209	0.650000	0.86243	TCC		TCGA-3A-A9IZ-01A-12D-A40W-08	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	0	0	0	79	222	1	45	0	2.861770e-01	0	4	1	45	2		0	0	0	0	0	2	1	1.000000	76	214	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.035720	0	0.560000	1.960000	0.561229	0.930000	7.600000e-01	1.000000	1.000000	0.928154	0.930000	1	0.840000	1.000000
OXR1	55074	broad.mit.edu	37	8	107705020	107705020	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107705020G>A	ENST00000442977.2	+	6	692	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.R190Q|OXR1_ENST00000445937.1_Missense_Mutation_p.R197Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R197Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R130Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R197Q	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1			31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		CGACCTGCACGAGTTGTATCT	0.348000																								0							SO:0001583	missense			ENST00000442977.2	1	1	hg19	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.008905|4.008905	0.75046|0.75046	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000517455|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T	.|0.25414	.|2.62;2.62;2.61;2.61;1.8;2.64	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.52692	.|0.903;0.843;0.955;0.955	.|B;B;P;B	.|0.47299	.|0.283;0.147;0.543;0.392	T|T	0.06338|0.06338	-1.0832|-1.0832	5|10	.|0.46703	.|T	.|0.11	-14.7806|-14.7806	17.9993|17.9993	0.89194|0.89194	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|190;198;130;197	.|Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.	K|Q	114|197;197;197;198;130;190	.|ENSP00000402918:R197Q;ENSP00000431966:R197Q;ENSP00000429205:R197Q;ENSP00000405424:R198Q;ENSP00000431014:R130Q;ENSP00000311026:R190Q	.|ENSP00000311026:R190Q	E|R	+|+	1|2	0|0	OXR1|OXR1	107774196|107774196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.329000|0.329000	0.28539|0.28539	7.352000|7.352000	0.79404|0.79404	2.336000|2.336000	0.79503|0.79503	0.467000|0.467000	0.42956|0.42956	GAG|CGA		TCGA-3A-A9IZ-01A-12D-A40W-08	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	1	89	336	1	57	1	9.720256e-01	17	29	1	57	5		0	0	0	0	0	2	1	1.000000	89	328	0	57	2								-3.145317	1	1	121412	5	36	1	1	2	3	2.535813	1	0.560000	1.960000	0.651678	0.940000	7.700000e-01	1.000000	1.000000	0.936374	0.940000	1	0.850000	1.000000
ABRA	137735	broad.mit.edu	37	8	107782407	107782407	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107782407G>A	ENST00000311955.3	-	1	66	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_139166.4	NP_631905.1			actin-binding Rho activating protein			27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		TTTCCTTTTCGCCCGGAGCCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000311955.3	1	1	hg19	CCDS6305.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	0	0	0	9	325	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.993893	9	320	0	46	2								-3.422836	1	1	121364	1	29	1	1	2	3	2.535813	1	0.560000	1.960000	0.651678	0.120000	5.000000e-02	1.000000	0.120000	0.174723	0.120000	0	0.080000	0.190000
FBXL6	26233	broad.mit.edu	37	8	145580308	145580308	+	Silent	SNP	G	G	A	rs148685592		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:145580308G>A	ENST00000331890.5	-	6	1009	c.945C>T	c.(943-945)ccC>ccT	p.P315P	SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|FBXL6_ENST00000455319.2_Silent_p.P309P|TMEM249_ENST00000531225.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6			5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		GCAGCTGAAGGGGAATGCTAT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000331890.5	0	1	hg19	CCDS6422.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	0	0	0	6	576	0	102	0	1.707104e-02	0	16	0	102	2		0	0	0	0	0	2	1	0.962599	6	563	0	97	2								-2.538992	1	1	121392	2	34	1	1	2	3	2.520403	1	0.560000	1.960000	0.645390	0.050000	0	1.000000	0.060000	0.158073	0.050000	0	0.020000	0.090000
ERI1	90459	broad.mit.edu	37	8	8875864	8875864	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:8875864A>T	ENST00000523898.1	+	6	1319	c.640A>T	c.(640-642)Atg>Ttg	p.M214L	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Missense_Mutation_p.M214L|ERI1_ENST00000519292.1_Missense_Mutation_p.M214L			Q8IV48	ERI1_HUMAN	exoribonuclease 1			11					AATTGACTGGATGAAATTGAA	0.308000																								0							SO:0001583	missense			ENST00000523898.1	1	1	hg19	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	A	9.693	1.152316	0.21371	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.32753	1.44;1.44;1.44	5.83	5.83	0.93111	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.040723	0.85682	D	0.000000	T	0.11495	0.0280	N	0.01446	-0.86	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.18681	-1.0329	10	0.02654	T	1	-25.2268	15.3806	0.74651	1.0:0.0:0.0:0.0	.	214	Q8IV48	ERI1_HUMAN	L	214	ENSP00000429615:M214L;ENSP00000250263:M214L;ENSP00000430190:M214L	ENSP00000250263:M214L	M	+	1	0	ERI1	8913274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.856000	0.69518	2.220000	0.72140	0.459000	0.35465	ATG		TCGA-3A-A9IZ-01A-12D-A40W-08	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	1	0	1	55	179	0	47	1	9.894830e-01	2	24	0	47	2		0	0	0	0	0	2	1	1.000000	55	178	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.044957	0	0.560000	1.960000	0.562450	0.840000	6.500000e-01	1.000000	1.000000	0.847618	0.840000	0	0.740000	0.950000
PTDSS1	9791	broad.mit.edu	37	8	97342493	97342493	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:97342493A>G	ENST00000517309.1	+	11	1552	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y206C|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y263C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1			29	Breast(36;6.18e-05)			Phosphatidylserine(DB00144)	GCAGAACACTATGGTCACCGA	0.463000																								0							SO:0001583	missense			ENST00000517309.1	1	1	hg19	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	A	8.633	0.894173	0.17613	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.46451	0.93;0.93;0.87	5.6	0.454	0.16644	.	0.185282	0.49916	N	0.000121	T	0.19005	0.0456	N	0.04959	-0.14	0.48185	D	0.999601	B	0.06786	0.001	B	0.06405	0.002	T	0.03922	-1.0992	10	0.38643	T	0.18	-3.7125	8.5488	0.33438	0.5948:0.0:0.4052:0.0	.	409	P48651	PTSS1_HUMAN	C	409;263;206	ENSP00000430548:Y409C;ENSP00000401248:Y263C;ENSP00000430928:Y206C	ENSP00000401248:Y263C	Y	+	2	0	PTDSS1	97411669	0.554000	0.26522	0.933000	0.37362	0.785000	0.44390	0.481000	0.22260	0.080000	0.16959	-0.411000	0.06167	TAT		TCGA-3A-A9IZ-01A-12D-A40W-08	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2	1	0	1	51	240	0	29	1	9.999999e-01	25	96	0	29	2		0	0	0	0	0	2	1	1.000000	50	233	0	28	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.535813	1	0.560000	1.960000	0.651678	0.790000	6.000000e-01	1.000000	0.790000	0.807436	0.790000	0	0.690000	0.920000
NOTCH1	4851	broad.mit.edu	37	9	139412288	139412288	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:139412288C>T	ENST00000277541.6	-	8	1432	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1			1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			CACTCGTTGACGTCGATCTCG	0.657000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0							SO:0001583	missense			ENST00000277541.6	1	1	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	5.036	0.192406	0.09599	.	.	ENSG00000148400	ENST00000277541	D	0.87103	-2.21	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202030	0.42682	D	0.000678	T	0.67249	0.2873	N	0.02120	-0.675	0.43588	D	0.995933	P	0.35363	0.497	B	0.34418	0.182	T	0.72953	-0.4135	10	0.02654	T	1	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	453	P46531	NOTC1_HUMAN	I	453	ENSP00000277541:V453I	ENSP00000277541:V453I	V	-	1	0	NOTCH1	138532109	0.997000	0.39634	0.990000	0.47175	0.788000	0.44548	0.789000	0.26886	2.088000	0.63022	0.462000	0.41574	GTC		TCGA-3A-A9IZ-01A-12D-A40W-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1	76	240	0	63	1	7.316790e-01	4	6	0	63	2		0	0	0	0	0	2	1	1.000000	73	234	0	58	2								-20.000000	1	1	120904	2	35	1	1	2	3	2.043119	0	0.560000	1.960000	0.562450	0.860000	6.900000e-01	1.000000	1.000000	0.866137	0.860000	1	0.770000	0.960000
PRUNE2	158471	broad.mit.edu	37	9	79318726	79318726	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:79318726G>A	ENST00000376718.3	-	9	7926	c.7803C>T	c.(7801-7803)gcC>gcT	p.A2601A	PRUNE2_ENST00000428286.1_Silent_p.A2242A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CATTTAAGGAGGCTGGCTGAC	0.428000																								0							SO:0001819	synonymous_variant			ENST00000376718.3	1	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.478	-0.320244	0.05386	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.61	-1.16	0.09678	.	.	.	.	.	T	0.18635	0.0447	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	-2.112	0.8443	0.01157	0.2855:0.1178:0.3678:0.229	.	.	.	.	F	1923	.	.	L	-	1	0	PRUNE2	78508546	0.010000	0.17322	0.001000	0.08648	0.460000	0.32559	0.028000	0.13644	-0.216000	0.10048	-0.218000	0.12543	CTC		TCGA-3A-A9IZ-01A-12D-A40W-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	78	225	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1.000000	78	225	0	62	2								-20.000000	1	1	0	0		1	0	0	0	2.024122	0	0.560000	1.960000	0.560000	0.910000	7.400000e-01	1.000000	1.000000	0.912633	0.910000	1	0.820000	1.000000
PNMA5	114824	broad.mit.edu	37	X	152159333	152159333	+	Silent	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chrX:152159333C>G	ENST00000439251.1	-	2	1248	c.810G>C	c.(808-810)ctG>ctC	p.L270L	PNMA5_ENST00000535214.1_Silent_p.L270L|PNMA5_ENST00000361887.5_Silent_p.L270L|PNMA5_ENST00000452693.1_Silent_p.L270L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5			25	Acute lymphoblastic leukemia(192;6.56e-05)				CGGCTTTCTGCAGCAGGGGCT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000439251.1	1	1	hg19	CCDS14718.1																																																																																				TCGA-3A-A9IZ-01A-12D-A40W-08	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	1	0	1	47	219	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1.000000	47	216	0	36	2								-20.000000	1	1	0	0		1	0	1	1			0.560000	1.960000	0.560000	0.310000	2.300000e-01	0.400000	0.310000	0.318885	0.310000	0	0.270000	0.360000
