Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MROH6	642475	broad.mit.edu	37	8	144652142	144652142	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr8:144652142C>T	ENST00000398882.3	-	7	1393	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6									p.T379T(2)									AGGCCATAGCCGTGAGACGCT	0.657000													12	26					0	0	0.479597	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930806	31930806	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr6:31930806C>T	ENST00000375394.2	+	13	1454	c.1341C>T	c.(1339-1341)caC>caT	p.H447H	SKIV2L_ENST00000544581.1_Silent_p.H254H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	447	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TACCTGACCACGTTTCTATCA	0.617000													17	30					0	0	0.557998	0	0
TENM1	10178	broad.mit.edu	37	X	123538975	123538975	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:123538975G>A	ENST00000422452.2	-	27	5360	c.5297C>T	c.(5296-5298)tCa>tTa	p.S1766L	TENM1_ENST00000371130.3_Missense_Mutation_p.S1759L|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.S1761L(1)									TCCGGGCAATGAGATGTTGCA	0.562000													44	83					0	0	0.864702	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25363860	25363860	+	Silent	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr4:25363860G>A	ENST00000302874.4	+	10	1170	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	382			P -> L (in dbSNP:rs3752873).				methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTGCTCTCCGTGTCAACGGT	0.338000													10	23					0	0	0.387290	0	0
SUN5	140732	broad.mit.edu	37	20	31571672	31571672	+	Silent	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr20:31571672G>A	ENST00000356173.3	-	13	1160	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R	SUN5_ENST00000375523.3_Silent_p.R331R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	356	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GCACTCGCACGCGGTACAGGC	0.562000													40	75					0	0	0.827153	0	0
RBFOX1	54715	broad.mit.edu	37	16	7383041	7383041	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:7383041C>T	ENST00000355637.4	+	1	291	c.39C>T	c.(37-39)ggC>ggT	p.G13G	RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Silent_p.G13G|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000436368.2_Silent_p.G13G|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000553186.1_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	242					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATCCTTATGGCGTGCCTATGA	0.488000													42	113					0	0	0.864702	0	0
FCAR	2204	broad.mit.edu	37	19	55396849	55396849	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr19:55396849C>T	ENST00000355524.3	+	3	283	c.273C>T	c.(271-273)gaC>gaT	p.D91D	FCAR_ENST00000345937.4_Silent_p.D91D|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Silent_p.D91D|FCAR_ENST00000391723.3_Silent_p.D79D|FCAR_ENST00000391724.3_Silent_p.D79D|FCAR_ENST00000391725.3_Silent_p.D91D|FCAR_ENST00000391726.3_Silent_p.D79D|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000359272.4_Silent_p.D79D	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	91	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ACCACATGGACGCAAACAAGG	0.483000													14	35					0	0	0.435327	0	0
SPIN1	10927	broad.mit.edu	37	9	91041469	91041469	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr9:91041469C>T	ENST00000375859.3	+	2	293	c.15C>T	c.(13-15)ttC>ttT	p.F5F	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Silent_p.F5F	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	5					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AGACCCCATTCGGAAAGACAC	0.388000													11	23					0	0	0.479597	0	0
SALL3	27164	broad.mit.edu	37	18	76754998	76754998	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr18:76754998C>T	ENST00000537592.2	+	2	3007	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TACTAAGGAGCGGCCATTCGT	0.537000													14	37					0	0	0.479597	0	0
TRRAP	8295	broad.mit.edu	37	7	98547146	98547146	+	Missense_Mutation	SNP	G	G	A	rs3735363		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:98547146G>A	ENST00000359863.4	+	35	5083	c.4874G>A	c.(4873-4875)cGc>cAc	p.R1625H	TRRAP_ENST00000355540.3_Missense_Mutation_p.R1607H|TRRAP_ENST00000446306.3_Missense_Mutation_p.R1606H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1625					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R1607H(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACGGCTGTGCGCCCCGGTTCG	0.637000													21	34					0	0	0.575678	0	0
SPATA17	128153	broad.mit.edu	37	1	217955575	217955575	+	Silent	SNP	G	G	A	rs139943258	by1000genomes	TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:217955575G>A	ENST00000366933.4	+	8	838	c.783G>A	c.(781-783)acG>acA	p.T261T	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	261						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGGAGCCAACGTTGCGGGTGG	0.448000													20	39					0	0	0.592651	0	0
CAMTA1	23261	broad.mit.edu	37	1	7812556	7812556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:7812556C>T	ENST00000303635.7	+	21	5128	c.4921C>T	c.(4921-4923)Cga>Tga	p.R1641*	CAMTA1_ENST00000476864.1_Nonsense_Mutation_p.R205*|CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.R1627*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAAGCTGCTCGAAAAATAAT	0.423000			T	WWTR1	epitheliod hemangioendothelioma								11	11					0	0	0.387290	0	0
ATAD2B	54454	broad.mit.edu	37	2	24111244	24111244	+	Silent	SNP	A	A	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:24111244A>G	ENST00000238789.5	-	3	737	c.394T>C	c.(394-396)Tta>Cta	p.L132L		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	132							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTTGGTAATGTAGCACCA	0.313000													2	13					0	0	0.115264	0	0
DLC1	10395	broad.mit.edu	37	8	12950234	12950234	+	Silent	SNP	G	G	A	rs142586910		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr8:12950234G>A	ENST00000276297.4	-	13	4036	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S	DLC1_ENST00000358919.2_Silent_p.S772S|DLC1_ENST00000520226.1_Silent_p.S698S|DLC1_ENST00000512044.2_Silent_p.S806S|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1209	Rho-GAP.		S -> C (in dbSNP:rs1044094).		actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGTGACATCGCTCAGGAAAT	0.562000													10	18					0	0	0.335167	0	0
FAM47A	158724	broad.mit.edu	37	X	34150181	34150181	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:34150181C>T	ENST00000346193.3	-	1	266	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	72								p.R72H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCGTCACGGCGACAAACGAG	0.537000													28	58					0	0	0.693898	0	0
TENM1	10178	broad.mit.edu	37	X	123556319	123556319	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:123556319T>A	ENST00000422452.2	-	24	4337	c.4274A>T	c.(4273-4275)aAg>aTg	p.K1425M	TENM1_ENST00000371130.3_Missense_Mutation_p.K1418M|STAG2_ENST00000469481.1_3'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AATTGCTACCTTGCTGACCAG	0.532000													38	51					0	0	0.788014	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692136	106692136	+	RNA	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr14:106692136G>A	ENST00000390607.2	-	0	67																											GTGAATCCTCGGTGCTCAGTG	0.493000													40	56					0	0	0.834066	0	0
ZNF862	643641	broad.mit.edu	37	7	149545305	149545305	+	Silent	SNP	A	A	C			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:149545305A>C	ENST00000223210.4	+	4	968	c.723A>C	c.(721-723)atA>atC	p.I241I		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ATTGCCCCATATTCTACCCCC	0.607000													8	14					0	0	0.278610	0	0
CCDC135	84229	broad.mit.edu	37	16	57734141	57734141	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:57734141G>A	ENST00000360716.3	+	5	684	c.463G>A	c.(463-465)Gac>Aac	p.D155N	CCDC135_ENST00000394337.4_Missense_Mutation_p.D155N|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.D155N			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	155						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GTTTGTCTCCGACTTCCTCAC	0.582000													29	89					0	0	0.717897	0	0
FAM47A	158724	broad.mit.edu	37	X	34150220	34150220	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:34150220C>T	ENST00000346193.3	-	1	227	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	59										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACAGCCGTAGCGGAAGTCGTC	0.557000													32	47					0	0	0.779181	0	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			11	19					0.010729	0.0109436	0.387290	1	0
TPSAB1	7177	broad.mit.edu	37	16	1292129	1292129	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:1292129C>T	ENST00000461509.2	+	5	931	c.737C>T	c.(736-738)gCg>gTg	p.A246V	TPSAB1_ENST00000338844.3_Missense_Mutation_p.A239V			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	239	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGGCTGCAGGCGGGCGTGGTC	0.672000													8	26					0	0	0.411799	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741040	146741040	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:146741040C>T	ENST00000361727.3	+	4	960	c.444C>T	c.(442-444)caC>caT	p.H148H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	148	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.H148H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGTCCGGCACGAATTACAGC	0.423000										HNSCC(39;0.1)			29	88					0	0	0.729181	0	0
GRK5	2869	broad.mit.edu	37	10	121156223	121156223	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:121156223C>T	ENST00000392870.2	+	4	607	c.278C>T	c.(277-279)aCt>aTt	p.T93I	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	93	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TATGAAGTTACTCCAGATGAA	0.443000													31	36					0	0	0.750413	0	0
MYH13	8735	broad.mit.edu	37	17	10204957	10204957	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr17:10204957C>T	ENST00000418404.3	-	39	5894	c.5731G>A	c.(5731-5733)Gcg>Acg	p.A1911T	MYH13_ENST00000252172.4_Missense_Mutation_p.A1911T|MYH13_ENST00000570743.1_Missense_Mutation_p.A1911T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1911					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCCTCTCCGCGGCCTCCTCT	0.622000													36	61					0	0	0.779181	0	0
DQX1	165545	broad.mit.edu	37	2	74746713	74746713	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:74746713C>T	ENST00000404568.3	-	10	1995	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	DQX1_ENST00000393951.2_Silent_p.Q592Q	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	592						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CCAGTGCTTTCTGAAGGTCTC	0.483000													42	68					0	0	0.853193	0	0
GFPT2	9945	broad.mit.edu	37	5	179765551	179765551	+	Silent	SNP	G	G	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr5:179765551G>T	ENST00000253778.8	-	2	226	c.57C>A	c.(55-57)atC>atA	p.I19I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	19	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGGTTTCGAAGATCTCCTTCC	0.557000													16	18					8.60227e-14	9.5373e-14	0.500413	1	0
SERPINE1	5054	broad.mit.edu	37	7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:100779013G>A	ENST00000223095.4	+	7	1175	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	SERPINE1_ENST00000445463.2_Missense_Mutation_p.V325I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	340					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.V340I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582000													16	58					0	0	0.539581	0	0
SNAP47	116841	broad.mit.edu	37	1	227968341	227968341	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:227968341C>T	ENST00000366759.4	+	5	1776	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D	SNAP47_ENST00000366760.1_Silent_p.D212D	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	454	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGACCATCGACAAGCACAACA	0.622000													13	19					0	0	0.457914	0	0
CREBBP	1387	broad.mit.edu	37	16	3828020	3828020	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:3828020C>G	ENST00000262367.5	-	10	2914	c.2105G>C	c.(2104-2106)aGa>aCa	p.R702T	CREBBP_ENST00000382070.3_Missense_Mutation_p.R664T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	702					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTGGAGGTCTCACAGGTTG	0.502000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						30	131					0	0	0.717897	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236052	33236052	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:33236052C>T	ENST00000401073.2	+	6	1342	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KIAA1522_ENST00000373481.3_Silent_p.T376T|KIAA1522_ENST00000373480.1_Silent_p.T365T|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	365	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCCGACACCATTGTGTCTG	0.652000													12	17					0	0	0.411799	0	0
ADAM10	102	broad.mit.edu	37	15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr15:58974499C>T	ENST00000260408.3	-	3	664	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	74					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTCTTCATTCGTAGGTTGAA	0.299000													12	31					0	0	0.411799	0	0
MED12	9968	broad.mit.edu	37	X	70347218	70347218	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:70347218G>A	ENST00000333646.6	+	21	3081	c.2882G>A	c.(2881-2883)cGg>cAg	p.R961Q	MED12_ENST00000374080.3_Missense_Mutation_p.R961Q|MED12_ENST00000374102.1_Missense_Mutation_p.R961Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	961			R -> W (in OKS).		androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGATGAACCGGTCCGATGGC	0.522000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						10	23					0	0	0.335167	0	0
OBSL1	23363	broad.mit.edu	37	2	220432968	220432968	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:220432968A>C	ENST00000404537.1	-	2	1147	c.1091T>G	c.(1090-1092)gTa>gGa	p.V364G	OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000373873.4_Missense_Mutation_p.V364G|OBSL1_ENST00000373876.1_Missense_Mutation_p.V364G|OBSL1_ENST00000265318.4_Missense_Mutation_p.V364G|OBSL1_ENST00000603926.1_Missense_Mutation_p.V364G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	364	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAGTTGGGTACTTTACATTC	0.662000											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	15					0	0	0.335167	0	0
SOS1	6654	broad.mit.edu	37	2	39283893	39283893	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:39283893G>A	ENST00000426016.1	-	5	546	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	SOS1_ENST00000428721.2_Missense_Mutation_p.H97Y|SOS1_ENST00000402219.2_Missense_Mutation_p.H154Y|SOS1_ENST00000395038.2_Missense_Mutation_p.H154Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	154					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTCATAATGCCGTATATTT	0.313000									Noonan syndrome				68	133					0	0	0.870114	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	56					0	0	0.217242	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682659	65682659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr15:65682659C>A	ENST00000352385.2	-	13	2451	c.2242G>T	c.(2242-2244)Gga>Tga	p.G748*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	748						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGGGGTGGTCCCCTCTGGATA	0.498000													3	30					0.004672	0.00486269	0.115264	1	0
PLAU	5328	broad.mit.edu	37	10	75673068	75673068	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:75673068G>A	ENST00000446342.1	+	5	820	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.R130Q|PLAU_ENST00000372762.4_Missense_Mutation_p.R94Q|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	130	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AACCGGAGGCGACCCTGGTGC	0.572000													44	61					0	0	0.870114	0	0
DYRK3	8444	broad.mit.edu	37	1	206822243	206822243	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:206822243C>G	ENST00000367106.1	+	4	2113	c.1640C>G	c.(1639-1641)gCt>gGt	p.A547G	DYRK3_ENST00000367108.3_Missense_Mutation_p.A547G|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.A567G			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	567					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGCTTAAAGCTAACTTAATG	0.438000													24	41					0	0	0.667858	0	0
WAPAL	23063	broad.mit.edu	37	10	88259577	88259580	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:88259577_88259580delTCTT	ENST00000298767.5	-	3	1892_1895	c.1420_1423delAAGA	c.(1420-1425)cafs	p.KT474fs		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	474	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTTTTGCTTGTCTTTCTTTCTACT	0.402													25	43	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr11:104879687delT	ENST00000393141.2	-	2	98	c.67delA	c.(67-69)ggfs	p.R24fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388													12	69	---	---	---	---					
KNTC1	9735	broad.mit.edu	37	12	123073283	123073283	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr12:123073283delA	ENST00000333479.7	+	40	4096	c.3919delA	c.(3919-3921)aafs	p.K1307fs	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1307					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TACATTAGTTAAATCAAGGCA	0.274													2	4	---	---	---	---					
LILRP2	79166	broad.mit.edu	37	19	55221804	55221805	+	RNA	INS	-	-	AC	rs45583536		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr19:55221804_55221805insAC	ENST00000413439.1	+	0	1415																											CAGAGACAGAGACTGAGGGTCC	0.614													4	5	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41088917	41088919	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:41088917_41088919delACA	ENST00000324545.7	+	43	7949_7951	c.7316_7318delACA	c.(7315-7320)tac>t	p.YN2439del	USP9X_ENST00000378308.2_In_Frame_Del_p.YN2439del	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2439					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGTACACTTACAACAATTGGTC	0.438													39	56	---	---	---	---					
