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
CTNND1	1500	broad.mit.edu	37	11	57582920	57582920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:57582920delG	ENST00000524630.1	+	18	3251	c.2738delG	c.(2737-2739)cgafs	p.R913fs	CTNND1_ENST00000532787.1_Frame_Shift_Del_p.R791fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000399050.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.R590fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.R569fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.R590fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.R838fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.R892fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.R818fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.R818fs			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	919					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACACTGGATCGATCGGGGGAT	0.393		NA											False	1	True	11:57582920	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000506523.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71		NA											False	1	False	19:14083667	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55		NA											False	1	True	20:46279833	0
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	TGCTGCG	TGCTGCG	-	-	TGCTGCG	TGCTGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527		NA											False	1	False	1:248616705	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
ATP2C1	27032	broad.mit.edu	37	3	130686062	130686063	+	In_Frame_Ins	INS	-	-	AAA			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:130686062_130686063insAAA	ENST00000510168.1	+	15	1746_1747	c.1196_1197insAAA	c.(1195-1200)ccagct>ccAAAagct	p.399_400PA>PKA	ATP2C1_ENST00000504381.1_In_Frame_Ins_p.344_345PA>PKA|ATP2C1_ENST00000428331.2_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000422190.2_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000393221.4_In_Frame_Ins_p.433_434PA>PKA|ATP2C1_ENST00000359644.3_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000533801.2_In_Frame_Ins_p.394_395PA>PKA|ATP2C1_ENST00000513801.1_In_Frame_Ins_p.383_384PA>PKA|ATP2C1_ENST00000508532.1_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000507488.2_In_Frame_Ins_p.383_384PA>PKA|ATP2C1_ENST00000328560.8_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000505330.1_In_Frame_Ins_p.383_384PA>PKA|ATP2C1_ENST00000504948.1_In_Frame_Ins_p.383_384PA>PKA			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	399					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTCTATAACCCAGCTGTTAGCA	0.342		NA							Hailey-Hailey disease				False	1	True	3:130686062	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	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
TIAM1	7074	broad.mit.edu	37	21	32499427	32499427	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:32499427G>A	ENST00000286827.3	-	27	4560	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	TIAM1_ENST00000541036.1_Silent_p.S1303S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1363	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTCAGACTCGGATTTTACAT	0.453		NA											False	0	False	21:32499427	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
GPR112	139378	broad.mit.edu	37	X	135426583	135426583	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:135426583A>T	ENST00000394143.1	+	6	1009	c.718A>T	c.(718-720)Agt>Tgt	p.S240C	GPR112_ENST00000287534.4_Missense_Mutation_p.S177C|GPR112_ENST00000394141.1_Missense_Mutation_p.S35C|GPR112_ENST00000412101.1_Missense_Mutation_p.S35C|GPR112_ENST00000370652.1_Missense_Mutation_p.S240C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	240					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAAGAAAAAAGTACAACTGT	0.333		NA											False	0	True	X:135426583	0
IQGAP1	8826	broad.mit.edu	37	15	91017344	91017344	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:91017344C>T	ENST00000268182.5	+	22	2678	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R280W	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	852	IQ 4.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAACAAAGCTCGGGATGACTA	0.423		NA											False	0	True	15:91017344	0
TUBA1C	84790	broad.mit.edu	37	12	49666572	49666572	+	Silent	SNP	A	A	G			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:49666572A>G	ENST00000301072.6	+	4	1187	c.912A>G	c.(910-912)aaA>aaG	p.K304K	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.K374K	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	304					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						AGATGGTGAAATGTGACCCTC	0.498		NA											False	0	True	12:49666572	0
FAM129C	199786	broad.mit.edu	37	19	17653012	17653012	+	Missense_Mutation	SNP	G	G	A	rs149574830		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:17653012G>A	ENST00000335393.4	+	11	1469	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q	FAM129C_ENST00000601861.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000599164.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000449408.2_Missense_Mutation_p.R170Q|FAM129C_ENST00000332386.5_Missense_Mutation_p.R444Q|FAM129C_ENST00000599124.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000352727.3_Missense_Mutation_p.R444Q|FAM129C_ENST00000600871.1_Missense_Mutation_p.R390Q|FAM129C_ENST00000300971.2_Missense_Mutation_p.R444Q|FAM129C_ENST00000595684.1_Missense_Mutation_p.R444Q	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	444										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GAGGCCGAGCGGAGCCGGGGG	0.607		NA											False	0	False	19:17653012	0
BRAF	673	broad.mit.edu	37	7	140481423	140481423	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:140481423C>G	ENST00000288602.6	-	11	1445	c.1385G>C	c.(1384-1386)aGa>aCa	p.R462T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	462	Protein kinase.		R -> I (in colorectal cancer).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.R462I(2)|p.R462K(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGATCCAATTCTTTGTCCCAC	0.393		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				False	0	True	7:140481423	0
ALG1L	200810	broad.mit.edu	37	3	125651539	125651539	+	Silent	SNP	A	A	C	rs147593769	by1000genomes	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:125651539A>C	ENST00000340333.3	-	3	277	c.114T>G	c.(112-114)ctT>ctG	p.L38L		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	38							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423		NA											False	0	False	3:125651539	0
CACNA1B	774	broad.mit.edu	37	9	141012490	141012490	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:141012490G>A	ENST00000277549.5	+	43	6021	c.3452G>A	c.(3451-3453)cGt>cAt	p.R1151H	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1955H|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1956H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1958H			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1957					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCCTGGAGCGTGGCCACTCC	0.617		NA											False	0	False	9:141012490	0
WNT5A	7474	broad.mit.edu	37	3	55508430	55508430	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:55508430C>T	ENST00000474267.1	-	5	1140	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	WNT5A_ENST00000497027.1_Missense_Mutation_p.A192T|WNT5A_ENST00000264634.4_Missense_Mutation_p.A207T			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	207					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GAGCCCTTGGCGTGGATGCGC	0.682		NA											False	0	False	3:55508430	0
SPATA31D1	389763	broad.mit.edu	37	9	84606351	84606351	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:84606351G>T	ENST00000344803.2	+	4	1013	c.966G>T	c.(964-966)aaG>aaT	p.K322N		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA											NA						CCATCTTGAAGACTTTTCCGG	0.468		NA											False	0	False	9:84606351	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702324	56702324	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:56702324G>A	ENST00000586855.2	-	4	934	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZSCAN5B_ENST00000358992.3_Silent_p.D207D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCTGTTACGTCAATACTCT	0.507		NA											False	0	False	19:56702324	0
CRNN	49860	broad.mit.edu	37	1	152382385	152382385	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:152382385G>T	ENST00000271835.3	-	3	1235	c.1173C>A	c.(1171-1173)agC>agA	p.S391R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	391					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGGGTTGCTCACTTGCA	0.602		NA											False	0	False	1:152382385	0
TPSD1	23430	broad.mit.edu	37	16	1306801	1306801	+	Silent	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:1306801C>T	ENST00000211076.3	+	3	406	c.258C>T	c.(256-258)gaC>gaT	p.D86D	TPSD1_ENST00000397534.2_Silent_p.D79D	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	86	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCCCAGGGACATCAAGGATC	0.682		NA											False	0	False	16:1306801	0
SORCS1	114815	broad.mit.edu	37	10	108434807	108434807	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr10:108434807G>A	ENST00000263054.6	-	14	1947	c.1940C>T	c.(1939-1941)aCa>aTa	p.T647I	SORCS1_ENST00000369698.1_Splice_Site_p.T182I|SORCS1_ENST00000344440.6_Splice_Site_p.T647I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	647						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAACTTACGTCATGATGAG	0.403		NA											False	0	False	10:108434807	0
MYH4	4622	broad.mit.edu	37	17	10366281	10366281	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:10366281C>A	ENST00000255381.2	-	11	1019	c.909G>T	c.(907-909)atG>atT	p.M303I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	303	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGATCAGAAGCATTTCTGAAC	0.433		NA											False	0	False	17:10366281	0
WSCD2	9671	broad.mit.edu	37	12	108604027	108604027	+	Silent	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:108604027C>T	ENST00000332082.4	+	5	1445	c.627C>T	c.(625-627)ggC>ggT	p.G209G	WSCD2_ENST00000549903.1_Silent_p.G209G|WSCD2_ENST00000261400.3_Silent_p.G209G|WSCD2_ENST00000547525.1_Silent_p.G209G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	209	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGTGCGGCGGCGCCAACCGCC	0.682		NA											False	0	True	12:108604027	0
VARS	7407	broad.mit.edu	37	6	31752372	31752372	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:31752372C>T	ENST00000375663.3	-	11	1907	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	VARS_ENST00000444930.2_Splice_Site_p.E194E	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	489					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGGGGCGCACCTCAATGTCAG	0.582		NA											False	0	False	6:31752372	0
PICK1	9463	broad.mit.edu	37	22	38470363	38470363	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr22:38470363G>C	ENST00000404072.3	+	12	1231	c.884G>C	c.(883-885)cGc>cCc	p.R295P	PICK1_ENST00000356976.3_Missense_Mutation_p.R295P	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	295	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TATGAGTACCGCCTGATCCTG	0.682		NA									OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:38470363	0
CRMP1	1400	broad.mit.edu	37	4	5837708	5837708	+	Silent	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr4:5837708C>T	ENST00000324989.7	-	11	1645	c.1557G>A	c.(1555-1557)tcG>tcA	p.S519S	CRMP1_ENST00000397890.2_Silent_p.S405S|CRMP1_ENST00000512574.1_Silent_p.S403S|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	405					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.S519S(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGTCGGCATCCGAGCCCACGG	0.522		NA											False	0	False	4:5837708	0
KNDC1	85442	broad.mit.edu	37	10	135020488	135020488	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr10:135020488G>A	ENST00000368571.2	+	18	3705	c.3415G>A	c.(3415-3417)Gtg>Atg	p.V1139M	KNDC1_ENST00000304613.3_Intron|KNDC1_ENST00000368572.2_Intron			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTCTGCCCCGTGAGGCAGTA	0.547		NA											False	0	True	10:135020488	0
MLLT11	10962	broad.mit.edu	37	1	151039879	151039879	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:151039879A>G	ENST00000368921.3	+	2	2981	c.179A>G	c.(178-180)aAc>aGc	p.N60S	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	60					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent					upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGAGAAAAACCCTGAAGGT	0.532		NA											False	0	True	1:151039879	0
NBEAL2	23218	broad.mit.edu	37	3	47041634	47041634	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:47041634C>G	ENST00000450053.3	+	27	4224	c.4045C>G	c.(4045-4047)Ctc>Gtc	p.L1349V	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1349							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTACCATGCTCTCTCCCCATT	0.607		NA											False	0	True	3:47041634	0
RNF213	57674	broad.mit.edu	37	17	78337556	78337556	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:78337556G>A	ENST00000582970.1	+	41	11859	c.11716G>A	c.(11716-11718)Ggg>Agg	p.G3906R	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G1979R|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G3955R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAAGGCAGCGGGAGCCTGGC	0.617		NA											False	0	True	17:78337556	0
CD163L1	283316	broad.mit.edu	37	12	7548911	7548911	+	Silent	SNP	G	G	A	rs140225151	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:7548911G>A	ENST00000313599.3	-	8	1887	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	CD163L1_ENST00000416109.2_Silent_p.D620D|CD163L1_ENST00000396630.1_Silent_p.D610D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	610	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTCCAGCCGTCATCACACA	0.567		NA											False	0	False	12:7548911	0
DENND1A	57706	broad.mit.edu	37	9	126202749	126202749	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:126202749C>T	ENST00000373624.2	-	19	1579	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	DENND1A_ENST00000373618.1_Missense_Mutation_p.A428T|DENND1A_ENST00000394219.3_Missense_Mutation_p.A428T|DENND1A_ENST00000373620.3_Missense_Mutation_p.A460T|DENND1A_ENST00000542603.1_Missense_Mutation_p.A202T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.A430T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	460						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGGTGGGGGCGCAGCCATTC	0.622		NA											False	0	True	9:126202749	0
PNMAL2	57469	broad.mit.edu	37	19	46998384	46998384	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:46998384G>A	ENST00000599531.1	-	1	1371	c.339C>T	c.(337-339)gaC>gaT	p.D113D	PNMAL2_ENST00000377655.2_Silent_p.D113D|AC011484.1_ENST00000377652.3_Silent_p.P165P|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	113										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCGTGGGCCCGTCATCCAGCA	0.692		NA											False	0	True	19:46998384	0
TRAPPC10	7109	broad.mit.edu	37	21	45502791	45502791	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:45502791A>G	ENST00000291574.4	+	14	2021	c.1846A>G	c.(1846-1848)Atg>Gtg	p.M616V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	616					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTACAGCCAGATGCCTGTGCC	0.517		NA											False	0	False	21:45502791	0
EPHA1	2041	broad.mit.edu	37	7	143092446	143092446	+	Silent	SNP	C	C	T	rs148018022		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:143092446C>T	ENST00000275815.3	-	12	2135	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	683	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGAATATGCGGGTGGCTAA	0.542		NA									OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:143092446	0
PBX2	5089	broad.mit.edu	37	6	32157563	32157563	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:32157563C>A	ENST00000375050.4	-	1	400	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	44							transcription factor binding	p.V44F(2)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711		NA											False	0	True	6:32157563	0
AHNAK	79026	broad.mit.edu	37	11	62296207	62296207	+	Silent	SNP	A	A	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:62296207A>T	ENST00000378024.4	-	5	5956	c.5682T>A	c.(5680-5682)ccT>ccA	p.P1894P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1894					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTCAACATCAGGCACCTCCA	0.517		NA											False	0	False	11:62296207	0
EPHB2	2048	broad.mit.edu	37	1	23111370	23111370	+	Silent	SNP	C	C	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:23111370C>A	ENST00000400191.3	+	3	630	c.612C>A	c.(610-612)ggC>ggA	p.G204G	EPHB2_ENST00000544305.1_Silent_p.G204G|EPHB2_ENST00000374627.1_Silent_p.G198G|EPHB2_ENST00000374630.3_Silent_p.G204G|EPHB2_ENST00000374632.3_Silent_p.G204G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	204	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCCAGAATGGCGCCATCTTCC	0.627		NA											False	0	False	1:23111370	0
COL6A6	131873	broad.mit.edu	37	3	130354557	130354557	+	Silent	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:130354557C>T	ENST00000358511.6	+	27	5074	c.5043C>T	c.(5041-5043)gaC>gaT	p.D1681D	COL6A6_ENST00000453409.2_Silent_p.D1681D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1681	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGATTGGGGACCCTGGTGGTC	0.373		NA											False	0	True	3:130354557	0
BMS1P20	0	broad.mit.edu	37	22	22657649	22657649	+	RNA	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr22:22657649G>A	ENST00000426066.1	+	0	61					NR_027293.1					NA											NA						GGAAAATCGGGCCCCGATACT	0.512		NA											False	0	True	22:22657649	0
FAM8A1	51439	broad.mit.edu	37	6	17608527	17608527	+	Missense_Mutation	SNP	T	T	C	rs141097358	by1000genomes	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:17608527T>C	ENST00000259963.3	+	5	1254	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	400	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTTATGACATTGTAGCAGGA	0.398		NA											False	0	False	6:17608527	0
C21orf128	150147	broad.mit.edu	37	21	43524046	43524046	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:43524046G>A	ENST00000329015.2	-	2	338	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	UMODL1_ENST00000408910.2_Silent_p.V456V|UMODL1_ENST00000400427.1_Silent_p.V384V|UMODL1_ENST00000408989.2_Silent_p.V456V|UMODL1_ENST00000400424.2_Silent_p.V384V					chromosome 21 open reading frame 128	NA										lung(4)	4						TGCAGATCGTGTCTCTCCAGG	0.597		NA											False	0	True	21:43524046	0
CACNA1S	779	broad.mit.edu	37	1	201079379	201079379	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:201079379G>C	ENST00000362061.3	-	2	397	c.171C>G	c.(169-171)atC>atG	p.I57M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I57M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	57					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGTGAGCAAGATGATCGTCT	0.577		NA											False	0	False	1:201079379	0
SOHLH2	54937	broad.mit.edu	37	13	36767849	36767849	+	Silent	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr13:36767849C>T	ENST00000379881.3	-	4	427	c.339G>A	c.(337-339)ggG>ggA	p.G113G	SOHLH2_ENST00000317764.6_Silent_p.G113G|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.G190G|SOHLH2_ENST00000554962.1_Silent_p.G190G	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2	NA										autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCATTCCATGCCCTGAAATAC	0.308		NA											False	0	True	13:36767849	0
RYR2	6262	broad.mit.edu	37	1	237948081	237948081	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:237948081G>A	ENST00000366574.2	+	90	13386	c.13069G>A	c.(13069-13071)Gcc>Acc	p.A4357T	RYR2_ENST00000542537.1_Missense_Mutation_p.A4341T|RYR2_ENST00000360064.6_Missense_Mutation_p.A4363T|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4357					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4355T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGGAAGCCGCCCTGCCCTC	0.532		NA											False	0	True	1:237948081	0
CSPG4	1464	broad.mit.edu	37	15	75974724	75974724	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:75974724G>A	ENST00000308508.5	-	8	4952	c.4860C>T	c.(4858-4860)taC>taT	p.Y1620Y		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1620	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCACCACACGGTAGAGCAGGA	0.667		NA											False	0	False	15:75974724	0
KDM5A	5927	broad.mit.edu	37	12	498206	498206	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:498206C>G	ENST00000399788.2	-	1	414	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.E18Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	18					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACGGGGCACTCTGGCGGTGGC	0.677		NA	T	NUP98	AML								False	0	False	12:498206	0
DOPEY1	23033	broad.mit.edu	37	6	83847927	83847927	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:83847927A>G	ENST00000349129.2	+	21	4426	c.4166A>G	c.(4165-4167)aAa>aGa	p.K1389R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.K1380R|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.K1370R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1389					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTGCCATCAAAGCCATCTTG	0.373		NA											False	0	True	6:83847927	0
AHNAK	79026	broad.mit.edu	37	11	62293318	62293318	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:62293318G>A	ENST00000378024.4	-	5	8845	c.8571C>T	c.(8569-8571)ggC>ggT	p.G2857G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2857					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACCTTAGGGCCTGTAACAT	0.453		NA											False	0	True	11:62293318	0
CEBPZ	10153	broad.mit.edu	37	2	37455921	37455921	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:37455921C>T	ENST00000234170.5	-	2	560	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	139					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTATTTTTCACCTTATTAACT	0.313		NA											False	0	False	2:37455921	0
LINGO2	158038	broad.mit.edu	37	9	27949709	27949709	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:27949709G>A	ENST00000379992.2	-	6	1410	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R321C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	321						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGTAGGAAGCGGAGCCCTTGG	0.527		NA											False	0	False	9:27949709	0
WDR6	11180	broad.mit.edu	37	3	49049685	49049685	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:49049685G>A	ENST00000395474.3	+	2	1088	c.808G>A	c.(808-810)Gac>Aac	p.D270N	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Missense_Mutation_p.D240N|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.D189N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	240					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAAGGTGGGCGACCTGCGAGT	0.552		NA											False	0	False	3:49049685	0
BIRC6	57448	broad.mit.edu	37	2	32774494	32774494	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:32774494C>T	ENST00000421745.2	+	65	13224	c.13090C>T	c.(13090-13092)Ctc>Ttc	p.L4364F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4364					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTCGAGCTTCTCAGTCAGTC	0.433		NA											False	0	True	2:32774494	0
CPSF1	29894	broad.mit.edu	37	8	145620538	145620538	+	Silent	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr8:145620538C>T	ENST00000349769.3	-	28	3223	c.3129G>A	c.(3127-3129)ccG>ccA	p.P1043P		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1043					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCGGGCACACGGCGTGTTGG	0.632		NA											False	0	False	8:145620538	0
COL18A1	80781	broad.mit.edu	37	21	46902721	46902721	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:46902721G>A	ENST00000359759.4	+	14	2953	c.2932G>A	c.(2932-2934)Gcc>Acc	p.A978T	COL18A1_ENST00000400337.2_Missense_Mutation_p.A563T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A743T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	978	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAAGCAGGCGCCCCAGGACA	0.592		NA											False	0	True	21:46902721	0
CCL26	10344	broad.mit.edu	37	7	75401253	75401253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:75401253G>A	ENST00000394905.2	-	3	399	c.142C>T	c.(142-144)Cga>Tga	p.R48*	CCL26_ENST00000005180.4_Nonsense_Mutation_p.R48*	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	48					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						TCATAGCTTCGCACCCAGGTC	0.527		NA											False	0	False	7:75401253	0
SDR9C7	121214	broad.mit.edu	37	12	57323240	57323240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:57323240G>A	ENST00000293502.1	-	3	801	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	220						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAAAGCTTTCGCATGCGTGAC	0.562		NA											False	0	False	12:57323240	0
CDH13	1012	broad.mit.edu	37	16	83704515	83704515	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:83704515G>A	ENST00000566620.1	+	9	1512	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R	CDH13_ENST00000428848.3_Missense_Mutation_p.G369R|CDH13_ENST00000268613.10_Missense_Mutation_p.G455R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGGAAACCCCGGGCAGAGCTT	0.498		NA											False	0	True	16:83704515	0
XPR1	9213	broad.mit.edu	37	1	180805698	180805698	+	Silent	SNP	C	C	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:180805698C>A	ENST00000367590.4	+	11	1545	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	449	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTGTGCGGGCCATTGTTCAGT	0.403		NA											False	0	False	1:180805698	0
C12orf66	144577	broad.mit.edu	37	12	64588215	64588215	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:64588215C>T	ENST00000311915.8	-	3	772	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	C12orf66_ENST00000544871.1_Missense_Mutation_p.V196M|C12orf66_ENST00000398055.3_Missense_Mutation_p.V249M			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	249										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GGAGGCTGCACGGCCTTCTGA	0.493		NA											False	0	False	12:64588215	0
CLU	1191	broad.mit.edu	37	8	27462692	27462692	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr8:27462692T>C	ENST00000316403.10	-	5	983	c.578A>G	c.(577-579)gAc>gGc	p.D193G	CLU_ENST00000546343.1_Missense_Mutation_p.D204G|CLU_ENST00000405140.3_Missense_Mutation_p.D193G|CLU_ENST00000523500.1_Missense_Mutation_p.D193G|CLU_ENST00000560366.1_Missense_Mutation_p.D245G			P10909	CLUS_HUMAN	clusterin	193					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GAAGAACCTGTCCTGGAAGAG	0.612		NA											False	0	False	8:27462692	0
DCHS1	8642	broad.mit.edu	37	11	6653418	6653418	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:6653418G>A	ENST00000299441.3	-	6	3736	c.3325C>T	c.(3325-3327)Ccc>Tcc	p.P1109S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1109	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGGTGGGATCCTCAGAC	0.607		NA											False	0	True	11:6653418	0
ABCD1	215	broad.mit.edu	37	X	153006119	153006119	+	Silent	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:153006119C>T	ENST00000218104.3	+	7	2125	c.1726C>T	c.(1726-1728)Ctg>Ttg	p.L576L	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	576	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCAGGACCTGGAAGCCAT	0.637		NA											False	0	False	X:153006119	0
ZC3H12A	80149	broad.mit.edu	37	1	37948837	37948837	+	Silent	SNP	A	A	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:37948837A>T	ENST00000373087.6	+	6	1541	c.1425A>T	c.(1423-1425)ggA>ggT	p.G475G		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	475	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCCCTATGGATCTGAGCTCC	0.677		NA											False	0	False	1:37948837	0
SPATA13	221178	broad.mit.edu	37	13	24868942	24868942	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr13:24868942G>A	ENST00000424834.2	+	12	3619	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	SPATA13_ENST00000382095.4_Missense_Mutation_p.R424H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R927H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R368H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R284H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1049H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R346H			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	424					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	p.R424H(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATCAACGAGCGCAAGCGCAAG	0.498		NA											False	0	True	13:24868942	0
APOA1BP	128240	broad.mit.edu	37	1	156562457	156562457	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:156562457G>A	ENST00000368235.3	+	4	554	c.511G>A	c.(511-513)Gca>Aca	p.A171T	APOA1BP_ENST00000368233.3_Missense_Mutation_p.A171T|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368234.3_Missense_Mutation_p.A171T	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	171	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAAATGCCCGCAGAGGTAGG	0.517		NA											False	0	True	1:156562457	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_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
HMCN1	83872	broad.mit.edu	37	1	186147896	186147896	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:186147896T>C	ENST00000271588.4	+	104	16521	c.16292T>C	c.(16291-16293)gTa>gCa	p.V5431A	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5431					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACACATGTGTAGGTAAATGT	0.428		NA											False	0	False	1:186147896	0
VPS13C	54832	broad.mit.edu	37	15	62172889	62172889	+	Silent	SNP	T	T	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:62172889T>A	ENST00000261517.5	-	73	9994	c.9921A>T	c.(9919-9921)ctA>ctT	p.L3307L	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Silent_p.L3307L|VPS13C_ENST00000395898.3_Silent_p.L3264L|VPS13C_ENST00000249837.3_Silent_p.L3264L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3307					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTCTGCATTTAGAGCATCAA	0.269		NA											False	0	True	15:62172889	0
PCDHGA8	0	broad.mit.edu	37	5	140773115	140773115	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:140773115G>A	ENST00000398604.2	+	1	735	c.735G>A	c.(733-735)ccG>ccA	p.P245P	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1				NA										endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTCACCCGATTTACCGAG	0.567		NA											False	0	True	5:140773115	0
GSTM5	2949	broad.mit.edu	37	1	110254908	110254908	+	Translation_Start_Site	SNP	T	T	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:110254908T>A	ENST00000369813.1	+	0	31				GSTM5_ENST00000256593.3_De_novo_Start_OutOfFrame|GSTM5_ENST00000369812.5_De_novo_Start_OutOfFrame			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	NA					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CTGATGCCTGTCTGCAGAATC	0.682		NA											False	0	False	1:110254908	0
KIAA1211	57482	broad.mit.edu	37	4	57193838	57193838	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr4:57193838G>A	ENST00000504228.1	+	9	3675	c.3570G>A	c.(3568-3570)gcG>gcA	p.A1190A	KIAA1211_ENST00000264229.6_Silent_p.A1190A|KIAA1211_ENST00000541073.1_Silent_p.A1183A			Q6ZU35	K1211_HUMAN	KIAA1211	1190										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCCCCAGCGCCGCTGGTAA	0.483		NA											False	0	False	4:57193838	0
PROP1	5626	broad.mit.edu	37	5	177421284	177421284	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:177421284C>A	ENST00000308304.2	-	2	473	c.165G>T	c.(163-165)agG>agT	p.R55S		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	55					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGGAGAACCTTGATCTCC	0.662		NA											False	0	False	5:177421284	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0
EIF2B2	8892	broad.mit.edu	37	14	75469848	75469848	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr14:75469848G>A	ENST00000266126.5	+	1	235	c.155G>A	c.(154-156)aGc>aAc	p.S52N		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	52				S -> R (in Ref. 2; AAC42002).	cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CACCGCTGGAGCAACGCGGGT	0.672		NA											False	0	False	14:75469848	0
TP53	7157	broad.mit.edu	37	17	7577123	7577123	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:7577123A>G	ENST00000420246.2	-	8	947	c.815T>C	c.(814-816)gTg>gCg	p.V272A	TP53_ENST00000269305.4_Missense_Mutation_p.V272A|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272A|TP53_ENST00000359597.4_Missense_Mutation_p.V272A|TP53_ENST00000455263.2_Missense_Mutation_p.V272A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (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.0?(8)|p.V272E(8)|p.V272A(7)|p.V272G(6)|p.?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		ACAAACACGCACCTCAAAGCT	0.532		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	False	17:7577123	0
DSCR4	10281	broad.mit.edu	37	21	39493319	39493319	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:39493319C>T	ENST00000328264.3	-	1	135	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	DSCR4_ENST00000398948.1_Missense_Mutation_p.E11K	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	11										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						atccggggttcatcatctctc	0.498		NA											False	0	False	21:39493319	0
FAM8A1	51439	broad.mit.edu	37	6	17608519	17608519	+	Silent	SNP	T	T	C			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:17608519T>C	ENST00000259963.3	+	5	1246	c.1191T>C	c.(1189-1191)gcT>gcC	p.A397A		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	397	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATCGAACAGCTTATGACATTG	0.383		NA											False	0	False	6:17608519	0
KIF21A	55605	broad.mit.edu	37	12	39752115	39752115	+	Silent	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:39752115G>A	ENST00000395670.3	-	8	1499	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N	KIF21A_ENST00000544797.2_Silent_p.N360N|KIF21A_ENST00000541463.2_Silent_p.N360N|KIF21A_ENST00000361418.5_Silent_p.N360N|KIF21A_ENST00000361961.3_Silent_p.N360N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	360					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTTCAGGGTGTTTAACGTTT	0.388		NA											False	0	True	12:39752115	0
USP39	10713	broad.mit.edu	37	2	85857980	85857980	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:85857980C>T	ENST00000323701.6	+	6	870	c.860C>T	c.(859-861)cCt>cTt	p.P287L	USP39_ENST00000409766.3_Missense_Mutation_p.P287L|USP39_ENST00000450066.2_Missense_Mutation_p.P184L|USP39_ENST00000409025.1_Missense_Mutation_p.P287L|USP39_ENST00000409470.1_Missense_Mutation_p.P287L|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	287					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CTCTGGAACCCTCGAAATTTC	0.438		NA											False	0	True	2:85857980	0
ANKRD34B	340120	broad.mit.edu	37	5	79854551	79854551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:79854551G>A	ENST00000338682.3	-	5	1960	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	430						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCTGAACCTCGCCTTTCTAAA	0.468		NA											False	0	False	5:79854551	0
PRSS36	146547	broad.mit.edu	37	16	31161352	31161352	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:31161352G>A	ENST00000268281.4	-	1	63	c.5C>T	c.(4-6)gCc>gTc	p.A2V	PRSS36_ENST00000418068.2_Missense_Mutation_p.A2V|PRSS36_ENST00000569305.1_Missense_Mutation_p.A2V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	2					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGTGCCGGGCCATGGCGCT	0.652		NA											False	0	True	16:31161352	0
CCDC114	93233	broad.mit.edu	37	19	48800579	48800579	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:48800579G>A	ENST00000315396.7	-	14	2349	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	556										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTGGCCAAGAGAGCCACGGTC	0.642		NA											False	0	True	19:48800579	0
DNAAF1	123872	broad.mit.edu	37	16	84211348	84211348	+	Silent	SNP	C	C	T	rs145469545		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:84211348C>T	ENST00000378553.5	+	12	2203	c.2079C>T	c.(2077-2079)agC>agT	p.S693S	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	693					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGACTGAGAGCGCCGCCACAC	0.617		NA											False	0	False	16:84211348	0
NLRP13	126204	broad.mit.edu	37	19	56424320	56424320	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:56424320T>A	ENST00000588751.1	-	5	887	c.863A>T	c.(862-864)gAt>gTt	p.D288V	NLRP13_ENST00000342929.3_Missense_Mutation_p.D288V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	288	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCGGGCCAATCCAAAGAAAT	0.393		NA											False	0	False	19:56424320	0
