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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
AVIL	10677	broad.mit.edu	37	12	58202276	58202277	+	In_Frame_Ins	INS	-	-	GCTAGATAAAGGGAGAATGGGGCATCAACC	rs147666040		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr12:58202276_58202277insGCTAGATAAAGGGAGAATGGGGCATCAACC	ENST00000257861.3	-	9	1424_1425	c.994_995insGGTTGATGCCCCATTCTCCCTTTATCTAGC	c.(994-996)gat>gGGTTGATGCCCCATTCTCCCTTTATCTAGCat	p.332_332D>GLMPHSPFI*H	AVIL_ENST00000537081.1_In_Frame_Ins_p.325_325D>GLMPHSPFI*H	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	332	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTCAGCACCATCGTTGACGGTC	0.53		NA											False	0	False	12:58202276	0
TNRC6C	57690	broad.mit.edu	37	17	76047066	76047067	+	Frame_Shift_Ins	INS	-	-	ATTTGATCTTT			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:76047066_76047067insATTTGATCTTT	ENST00000588847.1	+	5	2650_2651	c.1923_1924insATTTGATCTTT	c.(1924-1926)ggcfs	p.G642fs	TNRC6C_ENST00000544502.1_Frame_Shift_Ins_p.G642fs|TNRC6C_ENST00000541771.1_Frame_Shift_Ins_p.G642fs|TNRC6C_ENST00000588061.1_Frame_Shift_Ins_p.G642fs|TNRC6C_ENST00000335749.4_Frame_Shift_Ins_p.G642fs|TNRC6C_ENST00000301624.4_Frame_Shift_Ins_p.G642fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	642	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACAGTGGCTGGGGCAACAGCAC	0.505		NA											False	0	True	17:76047066	0
SIRPB1	10326	broad.mit.edu	37	20	1592349	1592355	+	Frame_Shift_Del	DEL	GCCAGCT	GCCAGCT	-	rs139138248		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	GCCAGCT	GCCAGCT	-	-	GCCAGCT	GCCAGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:1592349_1592355delGCCAGCT	ENST00000568365.1	-	2	145_151	c.81_87delAGCTGGC	c.(79-87)gtagctggcfs	p.VAG27fs	SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Frame_Shift_Del_p.VAG27fs			O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	27					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCTTCCTCGCCAGCTACCCCTGGAA	0.512		NA											False	1	False	20:1592349	0
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663		NA											False	1	False	2:95539829	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
TACR3	6870	broad.mit.edu	37	4	104577461	104577469	+	In_Frame_Del	DEL	ATGGGAAAC	ATGGGAAAC	-			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	ATGGGAAAC	ATGGGAAAC	-	-	ATGGGAAAC	ATGGGAAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:104577461_104577469delATGGGAAAC	ENST00000304883.2	-	3	910_918	c.770_778delGTTTCCCAT	c.(769-780)tgtttcccattg>ttg	p.CFP257del		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	257						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATGATGAGCAATGGGAAACAGTACACCAG	0.392		NA											False	1	True	4:104577461	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
GPR6	0	broad.mit.edu	37	6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712		NA											False	1	True	6:110300376	0
EDNRB	1910	broad.mit.edu	37	13	78477390	78477390	+	Silent	SNP	G	G	T	rs112618428	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr13:78477390G>T	ENST00000377211.4	-	4	1124	c.972C>A	c.(970-972)gtC>gtA	p.V324V	EDNRB_ENST00000334286.5_Silent_p.V234V|EDNRB_ENST00000446573.1_Silent_p.V234V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	234					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TGGCTTCAGGGACAGCCAGAA	0.433		NA											False	0	True	13:78477390	0
L3MBTL2	83746	broad.mit.edu	37	22	41609955	41609955	+	Silent	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:41609955G>A	ENST00000216237.5	+	3	479	c.321G>A	c.(319-321)aaG>aaA	p.K107K	RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	107					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	p.K107N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAGACCAAGAGGTTCTGCA	0.512		NA											False	0	False	22:41609955	0
PREX1	57580	broad.mit.edu	37	20	47309283	47309283	+	Silent	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:47309283G>A	ENST00000396220.1	-	8	985	c.963C>T	c.(961-963)aaC>aaT	p.N321N	PREX1_ENST00000371941.3_Silent_p.N321N			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	321	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGAGGGAGCCGTTGATGGATT	0.552		NA											False	0	False	20:47309283	0
ANAPC2	29882	broad.mit.edu	37	9	140080689	140080689	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr9:140080689C>T	ENST00000323927.2	-	3	864	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	287					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTGGAACTCACGCAGGAAGGA	0.642		NA											False	0	False	9:140080689	0
RNF20	56254	broad.mit.edu	37	9	104324559	104324559	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr9:104324559G>A	ENST00000389120.3	+	20	2873	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	928					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGTAACATGCGTAAAAAGGAT	0.418		NA											False	0	False	9:104324559	0
ASB17	127247	broad.mit.edu	37	1	76397669	76397669	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:76397669G>A	ENST00000284142.6	-	1	447	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	103					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACCTTTTCTGGCAAAAACCCA	0.363		NA											False	0	False	1:76397669	0
YY2	404281	broad.mit.edu	37	X	21875556	21875556	+	Silent	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:21875556C>T	ENST00000429584.2	+	1	1452	c.954C>T	c.(952-954)tgC>tgT	p.C318C	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	318	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCGAAGGCTGCGGGAAACGCT	0.532		NA											False	0	True	X:21875556	0
BEX2	84707	broad.mit.edu	37	X	102564580	102564580	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:102564580G>A	ENST00000536889.1	-	3	778	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	BEX2_ENST00000372674.1_Missense_Mutation_p.R109W|BEX2_ENST00000372677.3_Missense_Mutation_p.R109W	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	109					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						CTGACTGCCCGCAAACTATGA	0.507		NA											False	0	True	X:102564580	0
DAGLA	747	broad.mit.edu	37	11	61511152	61511152	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr11:61511152C>G	ENST00000257215.5	+	20	2436	c.2320C>G	c.(2320-2322)Cgg>Ggg	p.R774G		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	774					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCAGGCCCGGCGGGCACCACT	0.721		NA											False	0	True	11:61511152	0
CHSY3	337876	broad.mit.edu	37	5	129519959	129519959	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:129519959G>A	ENST00000305031.4	+	3	1482	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	375						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAACACAATCGGAAGGGTTAC	0.343		NA											False	0	False	5:129519959	0
WHAMMP3	0	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1					NA											NA						TGATTTTCTTCGCACTGATCC	0.408		NA											False	0	False	15:23191911	0
IGSF1	3547	broad.mit.edu	37	X	130416639	130416639	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:130416639C>T	ENST00000370904.1	-	13	1908	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R333Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R342Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R342Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	342	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTCGACACCGTAGGCTCAC	0.498		NA											False	0	False	X:130416639	0
KCNH2	3757	broad.mit.edu	37	7	150656780	150656780	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr7:150656780C>A	ENST00000392968.2	-	1	1184	c.64G>T	c.(64-66)Gag>Tag	p.E22*	KCNH2_ENST00000430723.3_Nonsense_Mutation_p.E118*|KCNH2_ENST00000262186.5_Nonsense_Mutation_p.E118*			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	118					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCCCCATCCTCGTTCTTCACG	0.597		NA											False	0	False	7:150656780	0
SRRM2	23524	broad.mit.edu	37	16	2814969	2814969	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:2814969T>G	ENST00000301740.8	+	11	4989	c.4440T>G	c.(4438-4440)tgT>tgG	p.C1480W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1480	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCGAATGTGATTCTTCCC	0.532		NA											False	0	False	16:2814969	0
FAM86A	196483	broad.mit.edu	37	16	5140142	5140142	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:5140142C>T	ENST00000427587.4	-	6	753	c.685G>A	c.(685-687)Gac>Aac	p.D229N	FAM86A_ENST00000458008.4_Missense_Mutation_p.D195N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D168N	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	229										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						GTCGCGACGTCCCAGTCCAGC	0.602		NA											False	0	True	16:5140142	0
ARAP2	116984	broad.mit.edu	37	4	36189102	36189102	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:36189102C>A	ENST00000303965.4	-	8	2138	c.1649G>T	c.(1648-1650)aGa>aTa	p.R550I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	550	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AACAAAAGTTCTTTGTGTTGT	0.299		NA											False	0	True	4:36189102	0
PER2	8864	broad.mit.edu	37	2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383		NA											False	0	False	2:239185809	0
HIVEP3	59269	broad.mit.edu	37	1	42046110	42046110	+	Silent	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:42046110C>T	ENST00000372584.1	-	3	5373	c.4359G>A	c.(4357-4359)gaG>gaA	p.E1453E	HIVEP3_ENST00000247584.5_Silent_p.E1453E|HIVEP3_ENST00000372583.1_Silent_p.E1453E|HIVEP3_ENST00000429157.2_Silent_p.E1453E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1453					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGAAGCCTCCTCCTCCTTCA	0.512		NA											False	0	True	1:42046110	0
TPR	7175	broad.mit.edu	37	1	186328936	186328936	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:186328936T>C	ENST00000367478.4	-	12	1680	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	NA					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCAACCTTCATAGCTTGTTCA	0.368		NA	T	NTRK1	papillary thyroid								False	0	False	1:186328936	0
BCCIP	56647	broad.mit.edu	37	10	127520157	127520157	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:127520157C>T	ENST00000299130.3	+	5	592	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	BCCIP_ENST00000429863.2_Missense_Mutation_p.P164S|BCCIP_ENST00000368759.5_Missense_Mutation_p.P194S|BCCIP_ENST00000278100.6_Missense_Mutation_p.P194S	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	194	Interaction with CDKN1A.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATCGCTCTGCCCATGTACCA	0.383		NA											False	0	True	10:127520157	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C	rs138973461	by1000genomes	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:45128735T>C	ENST00000575173.1	-	0	418										NA											NA						GAAATACTAATGATTTTTATT	0.323		NA											False	0	False	17:45128735	0
CHD6	0	broad.mit.edu	37	20	40052243	40052243	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:40052243G>A	ENST00000373233.3	-	30	4621	c.4444C>T	c.(4444-4446)Cgc>Tgc	p.R1482C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1482					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAATGATGCGGAACTGTGTC	0.443		NA											False	0	False	20:40052243	0
MMP2	0	broad.mit.edu	37	16	55519538	55519538	+	Silent	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:55519538C>T	ENST00000219070.4	+	5	1190	c.681C>T	c.(679-681)aaC>aaT	p.N227N	MMP2_ENST00000437642.2_Silent_p.N177N|MMP2_ENST00000570308.1_Silent_p.N151N|MMP2_ENST00000543485.1_Silent_p.N151N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	227	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGTATGGGAACGCCGATGGGG	0.542		NA											False	0	False	16:55519538	0
IRS1	3667	broad.mit.edu	37	2	227660111	227660111	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:227660111T>C	ENST00000305123.5	-	1	4364	c.3344A>G	c.(3343-3345)aAc>aGc	p.N1115S		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	NA					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCACTGTGTTGCCCACCCG	0.617		NA											False	0	False	2:227660111	0
PKDREJ	10343	broad.mit.edu	37	22	46653425	46653425	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:46653425G>A	ENST00000253255.5	-	1	5794	c.5795C>T	c.(5794-5796)tCg>tTg	p.S1932L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1932					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAATATGACCGAAATGCTACA	0.373		NA											False	0	True	22:46653425	0
NUP155	9631	broad.mit.edu	37	5	37370977	37370977	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:37370977G>C	ENST00000231498.3	-	1	306	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E	NUP155_ENST00000513532.1_Missense_Mutation_p.Q35E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	35					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGTCCTCTTGCAACTGACGG	0.582		NA											False	0	False	5:37370977	0
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269		NA											False	0	True	10:51754173	0
CNNM2	54805	broad.mit.edu	37	10	104678687	104678687	+	Silent	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:104678687C>T	ENST00000369878.4	+	1	638	c.450C>T	c.(448-450)tgC>tgT	p.C150C	CNNM2_ENST00000433628.2_Silent_p.C150C|CNNM2_ENST00000369875.3_Silent_p.C150C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	NA					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCCAGCGATGCGGCATCCGCA	0.687		NA											False	0	False	10:104678687	0
ZSWIM5	57643	broad.mit.edu	37	1	45484833	45484833	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:45484833G>A	ENST00000359600.5	-	14	3056	c.2851C>T	c.(2851-2853)Cgc>Tgc	p.R951C		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	951							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCCAGTGTGCGAGCACAGCTA	0.542		NA									OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:45484833	0
KLHDC2	23588	broad.mit.edu	37	14	50249311	50249311	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr14:50249311C>T	ENST00000298307.5	+	12	1957	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	KLHDC2_ENST00000554589.1_Intron|KLHDC2_ENST00000557247.1_Intron	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	366						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATCTCTTGTACGGTAAGTAAC	0.308		NA											False	0	False	14:50249311	0
FAT2	2196	broad.mit.edu	37	5	150911532	150911532	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:150911532C>T	ENST00000261800.5	-	13	9440		c.e13-1			NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	NA					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATTGGCGCCTGGCAGGGAG	0.652		NA											False	0	False	5:150911532	0
PGAM4	441531	broad.mit.edu	37	X	77224488	77224488	+	Silent	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:77224488G>A	ENST00000458128.1	-	1	647	c.648C>T	c.(646-648)atC>atT	p.I216I	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	216					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						ATTCATAGACGATGGGAATAC	0.537		NA											False	0	False	X:77224488	0
TSPAN5	10098	broad.mit.edu	37	4	99407920	99407920	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:99407920G>A	ENST00000305798.3	-	3	650	c.248C>T	c.(247-249)gCg>gTg	p.A83V	TSPAN5_ENST00000505184.1_Missense_Mutation_p.A12V|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	83						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TTCCCGTAGCGCTCCAATGCA	0.478		NA											False	0	False	4:99407920	0
CD93	22918	broad.mit.edu	37	20	23066171	23066171	+	Missense_Mutation	SNP	G	G	A	rs138932459		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:23066171G>A	ENST00000246006.4	-	1	806	c.659C>T	c.(658-660)gCg>gTg	p.A220V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	220			A -> V (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.A220V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TACATTGGCCGCAGAGGCAAA	0.617		NA											False	0	False	20:23066171	0
SPATC1	375686	broad.mit.edu	37	8	145094826	145094826	+	Silent	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr8:145094826G>A	ENST00000377470.3	+	2	330	c.228G>A	c.(226-228)ccG>ccA	p.P76P	SPATC1_ENST00000447830.2_Silent_p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes (By similarity).									NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTGCCCCCGTCCCCAGCAG	0.632		NA											False	0	True	8:145094826	0
NLRP3	114548	broad.mit.edu	37	1	247597507	247597507	+	Silent	SNP	C	C	T	rs147154764		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:247597507C>T	ENST00000366497.2	+	6	3210	c.2430C>T	c.(2428-2430)ctC>ctT	p.L810L	NLRP3_ENST00000391828.3_Silent_p.L810L|NLRP3_ENST00000391827.2_Silent_p.L753L|NLRP3_ENST00000366496.2_Silent_p.L810L|NLRP3_ENST00000348069.2_Silent_p.L753L|NLRP3_ENST00000336119.3_Silent_p.L810L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	867					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAACGCCCTCGGTGACTTCG	0.567		NA											False	0	False	1:247597507	0
PCDHB13	0	broad.mit.edu	37	5	140595672	140595672	+	Silent	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:140595672C>T	ENST00000341948.4	+	1	2164	c.1977C>T	c.(1975-1977)caC>caT	p.H659H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		659	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGCTGCACGTGCTCCTGG	0.716		NA											False	0	False	5:140595672	0
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438		NA											False	0	True	6:105573335	0
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000269305.4_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGCACAGGGCAGGTCTTGGC	0.572		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)			False	0	True	17:7578508	0
TUBG2	27175	broad.mit.edu	37	17	40817827	40817827	+	Silent	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:40817827G>A	ENST00000251412.7	+	8	1024	c.825G>A	c.(823-825)ccG>ccA	p.P275P		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	275					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCTACACCCCGCTCACTACAG	0.637		NA											False	0	True	17:40817827	0
IL18RAP	8807	broad.mit.edu	37	2	103063588	103063588	+	Silent	SNP	G	G	C			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:103063588G>C	ENST00000264260.2	+	10	1720	c.1131G>C	c.(1129-1131)gcG>gcC	p.A377A	IL18RAP_ENST00000409369.1_Silent_p.A235A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	377					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCTGGCGGCGAGTGCCCTCC	0.582		NA											False	0	False	2:103063588	0
CRYBB1	1414	broad.mit.edu	37	22	27008105	27008105	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:27008105G>A	ENST00000215939.2	-	3	360	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	77	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens	p.S77L(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GCACTCCCCCGAGAATTCTGC	0.612		NA											False	0	True	22:27008105	0
CATSPER2P1	0	broad.mit.edu	37	15	44036644	44036644	+	RNA	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr15:44036644G>A	ENST00000381680.2	-	0	526					NR_002318.2					NA											NA						TGACTGCAGCGCACATGAAGC	0.493		NA											False	0	False	15:44036644	0
CRIPAK	285464	broad.mit.edu	37	4	1389313	1389313	+	Silent	SNP	T	T	C	rs71299249		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:1389313T>C	ENST00000324803.4	+	1	3974	c.1014T>C	c.(1012-1014)tgT>tgC	p.C338C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	338					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGCCGATGTGGAGTGCCCG	0.662		NA											False	0	False	4:1389313	0
PDSS1	23590	broad.mit.edu	37	10	27024505	27024505	+	Silent	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:27024505G>A	ENST00000376215.5	+	10	1076	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	PDSS1_ENST00000376203.5_Intron|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	341					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTGCCTGTCAGCAGGTAGGTT	0.498		NA											False	0	False	10:27024505	0
MMP15	4324	broad.mit.edu	37	16	58074496	58074496	+	Silent	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:58074496G>A	ENST00000219271.3	+	5	1589	c.804G>A	c.(802-804)gaG>gaA	p.E268E		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	268					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGGGCTGGAGCACTCCAGCA	0.607		NA											False	0	False	16:58074496	0
NLRP5	126206	broad.mit.edu	37	19	56539375	56539375	+	Silent	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:56539375C>T	ENST00000390649.3	+	7	1776	c.1776C>T	c.(1774-1776)gcC>gcT	p.A592A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	592	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACTTCTGTGCCGCCTTGTACT	0.532		NA											False	0	False	19:56539375	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA											False	0	True	2:107049681	0
PLA2G4C	8605	broad.mit.edu	37	19	48571097	48571097	+	Silent	SNP	G	G	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:48571097G>A	ENST00000354276.3	-	13	1380	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	PLA2G4C_ENST00000599111.1_Silent_p.C361C|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Silent_p.C351C|PLA2G4C_ENST00000599921.1_Silent_p.C351C	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	351	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACTTTGAAGCGCAAATGCCTG	0.512		NA											False	0	False	19:48571097	0
GOLGA6L5	0	broad.mit.edu	37	15	85053127	85053127	+	RNA	SNP	T	T	G			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr15:85053127T>G	ENST00000414190.2	-	0	325					NR_003246.2					NA											NA						ATGTTTTGTTTTTTTTTTTTC	0.363		NA											False	0	True	15:85053127	0
NLRP9	338321	broad.mit.edu	37	19	56244158	56244158	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:56244158C>T	ENST00000332836.2	-	2	1066	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	347	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGTTTCACACAAGTACAG	0.418		NA											False	0	True	19:56244158	0
NEB	4703	broad.mit.edu	37	2	152552104	152552104	+	Silent	SNP	A	A	G			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:152552104A>G	ENST00000397345.3	-	18	1864	c.1662T>C	c.(1660-1662)taT>taC	p.Y554Y	NEB_ENST00000603639.1_Silent_p.Y554Y|NEB_ENST00000409198.1_Silent_p.Y554Y|NEB_ENST00000427231.2_Silent_p.Y554Y|NEB_ENST00000172853.10_Silent_p.Y554Y|NEB_ENST00000604864.1_Silent_p.Y554Y	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	554					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTCAAGTTATAGGCATTGA	0.373		NA											False	0	False	2:152552104	0
MICALL1	85377	broad.mit.edu	37	22	38323617	38323617	+	Silent	SNP	T	T	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:38323617T>A	ENST00000215957.6	+	9	1791	c.1665T>A	c.(1663-1665)tcT>tcA	p.S555S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	555	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCAGCCTCTCTACCAACTCCT	0.632		NA											False	0	True	22:38323617	0
TAF6	6878	broad.mit.edu	37	7	99707631	99707631	+	Silent	SNP	G	G	A	rs148894017		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr7:99707631G>A	ENST00000344095.4	-	12	1749	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D	TAF6_ENST00000453269.2_Silent_p.D408D|TAF6_ENST00000452041.1_Silent_p.D408D|TAF6_ENST00000418432.2_Silent_p.D332D|TAF6_ENST00000472509.1_Silent_p.D465D|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Silent_p.D445D	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	408					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACAGGGCCGTCCAGCACAC	0.587		NA											False	0	False	7:99707631	0
SLC27A2	11001	broad.mit.edu	37	15	50519366	50519366	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr15:50519366A>G	ENST00000267842.5	+	7	1680	c.1448A>G	c.(1447-1449)gAt>gGt	p.D483G	SLC27A2_ENST00000380902.4_Missense_Mutation_p.D430G|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D248G	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	483					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGAGTTGGAGATACATTCCGG	0.408		NA											False	0	False	15:50519366	0
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000403486.1_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443		NA											False	0	False	19:43528993	0
PLXNB3	5365	broad.mit.edu	37	X	153036266	153036266	+	Silent	SNP	A	A	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:153036266A>T	ENST00000538966.1	+	12	2404	c.2133A>T	c.(2131-2133)gcA>gcT	p.A711A	PLXNB3_ENST00000361971.5_Silent_p.A688A|PLXNB3_ENST00000538776.1_Silent_p.A341A|PLXNB3_ENST00000538282.1_Silent_p.A298A|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	688					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGCCTGGCAGGTCCCCACC	0.622		NA											False	0	False	X:153036266	0
FAM65C	140876	broad.mit.edu	37	20	49218732	49218732	+	Silent	SNP	C	C	A			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:49218732C>A	ENST00000327979.2	-	13	1935	c.1524G>T	c.(1522-1524)ggG>ggT	p.G508G	FAM65C_ENST00000045083.2_Silent_p.G508G|FAM65C_ENST00000535356.1_Silent_p.G512G			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	508										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACGCCAGGCCCGTCCTCTC	0.697		NA											False	0	True	20:49218732	0
AKR1A1	10327	broad.mit.edu	37	1	46032622	46032622	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:46032622C>T	ENST00000372070.3	+	5	1033	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AKR1A1_ENST00000471651.1_Missense_Mutation_p.R96W|AKR1A1_ENST00000351829.4_Missense_Mutation_p.R96W	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	96					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GCCTGCCCTCCGGAAGACTCT	0.607		NA											False	0	False	1:46032622	0
