Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MED12	9968	broad.mit.edu	37	X	70340915	70340915	+	Silent	SNP	T	T	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:70340915T>G	ENST00000333646.6	+	5	847	c.648T>G	c.(646-648)ggT>ggG	p.G216G	MED12_ENST00000374102.1_Silent_p.G216G|MED12_ENST00000374080.3_Silent_p.G216G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	216					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G216G(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCTGTGGTTCCACGATAG	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						24	44					0	0	0.069288	0	0
GATA2	2624	broad.mit.edu	37	3	128200720	128200720	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:128200720C>T	ENST00000341105.2	-	5	1416	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	GATA2_ENST00000487848.1_Missense_Mutation_p.R362Q|GATA2_ENST00000430265.2_Missense_Mutation_p.R348Q|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	362					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.R362Q(7)|p.R362P(1)|p.R362fs*25(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTTGGCGTTTCGGCGCCATAA	0.657000			Mis		AML(CML blast transformation)								4	78					0	0	0.009096	0	0
ZNF341	84905	broad.mit.edu	37	20	32378876	32378876	+	Silent	SNP	G	G	A	rs141469797	byFrequency	TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr20:32378876G>A	ENST00000375200.1	+	15	2483	c.2118G>A	c.(2116-2118)acG>acA	p.T706T	RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.T699T|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	706				T -> M (in Ref. 4; BAB55193).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T699T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCGCCCACACGGGCAACTACA	0.617000													13	111					0	0	0.105934	0	0
MYOCD	93649	broad.mit.edu	37	17	12666707	12666707	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr17:12666707G>A	ENST00000425538.1	+	14	2907	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.E855K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	855					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.E903K(1)|p.E855K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAATGCACATGAGATCTTGCC	0.498000													21	23					0	0	0.062417	0	0
MAGI2	9863	broad.mit.edu	37	7	77762250	77762250	+	Silent	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr7:77762250C>T	ENST00000354212.4	-	18	3412	c.3159G>A	c.(3157-3159)caG>caA	p.Q1053Q	MAGI2_ENST00000522391.1_Silent_p.Q1053Q|MAGI2_ENST00000419488.1_Silent_p.Q1039Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1053	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding	p.Q1053Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGGTGCTGGCTGGGCGATGG	0.582000													76	264					0	0	0.048971	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6237978	6237978	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr18:6237978G>C	ENST00000400104.3	-	10	969	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L257V|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L257V|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.L257V|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L70V			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	257					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L257V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGTGCTATCAGAGTTCTTCCA	0.433000													18	102					0	0	0.083992	0	0
EFTUD2	9343	broad.mit.edu	37	17	42928692	42928692	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr17:42928692T>C	ENST00000426333.2	-	28	3166	c.2869A>G	c.(2869-2871)Atg>Gtg	p.M957V	EFTUD2_ENST00000402521.3_Missense_Mutation_p.M922V|EFTUD2_ENST00000592576.1_Missense_Mutation_p.M947V|EFTUD2_ENST00000591382.1_Missense_Mutation_p.M957V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	957						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	p.M957V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCCAGCAACATAGGATCATCG	0.522000													94	52					0	0	0.048971	0	0
HMCN1	83872	broad.mit.edu	37	1	186064392	186064392	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:186064392A>T	ENST00000271588.4	+	68	10541	c.10312A>T	c.(10312-10314)Aat>Tat	p.N3438Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.N3438Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3438	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.N3438Y(1)		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						AAATATGGACAATTCAATGGG	0.383000													5	26					0	0	0.029380	0	0
RBM10	8241	broad.mit.edu	37	X	47041570	47041570	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:47041570A>C	ENST00000377604.3	+	17	2537	c.1795A>C	c.(1795-1797)Aat>Cat	p.N599H	RBM10_ENST00000329236.7_Missense_Mutation_p.N521H|RBM10_ENST00000345781.6_Missense_Mutation_p.N522H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	599	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.N599H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GTATTACTACAATGCTCAGAG	0.597000													8	63					0	0	0.047766	0	0
FRG1B	284802	broad.mit.edu	37	20	29624081	29624081	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr20:29624081A>T	ENST00000278882.3	+	4	485	c.105A>T	c.(103-105)ttA>ttT	p.L35F	FRG1B_ENST00000358464.4_Missense_Mutation_p.L35F|FRG1B_ENST00000439954.2_Missense_Mutation_p.L40F														p.L35F(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGTCAAATTATCTGATTCCA	0.289000													4	19					0	0	0.029380	0	0
CRIM1	51232	broad.mit.edu	37	2	36774266	36774266	+	Missense_Mutation	SNP	G	G	C	rs13419463		TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr2:36774266G>C	ENST00000280527.2	+	16	3253	c.2886G>C	c.(2884-2886)caG>caC	p.Q962H	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	962					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.Q962H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCATCAATCAGAAGAAACAGT	0.393000													13	106					0	0	0.024245	0	0
BRINP3	339479	broad.mit.edu	37	1	190067861	190067861	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:190067861G>A	ENST00000367462.3	-	8	1819	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R428C	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	530								p.R530C(1)									ATCCGCTTACGCCAGGAGGGA	0.428000													15	77					0	0	0.020292	0	0
PHRF1	57661	broad.mit.edu	37	11	609398	609398	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:609398G>A	ENST00000264555.5	+	14	4070	c.3942G>A	c.(3940-3942)ctG>ctA	p.L1314L	PHRF1_ENST00000413872.2_Silent_p.L1312L|PHRF1_ENST00000416188.2_Silent_p.L1313L|PHRF1_ENST00000533464.1_Silent_p.L1310L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1314							RNA polymerase binding|zinc ion binding	p.L1319L(1)|p.L1314L(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAGCCAGCCTGGCCGTGGCCG	0.632000													3	20					0	0	0.009096	0	0
SLC45A1	50651	broad.mit.edu	37	1	8395589	8395589	+	Silent	SNP	C	C	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:8395589C>G	ENST00000471889.1	+	6	1921	c.1536C>G	c.(1534-1536)ctC>ctG	p.L512L	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.L546L|SLC45A1_ENST00000289877.8_Silent_p.L512L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	512					carbohydrate transport	integral to membrane	symporter activity	p.L512L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCGCCTCTGCTCCACCA	0.652000													17	97					0	0	0.038395	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30376495	30376495	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr16:30376495G>A	ENST00000409939.3	-	3	1175	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	365	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.L90L(1)|p.L365L(1)		endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CTTTGGCTCTGAGAGAGGAGG	0.582000													10	54					0	0	0.069234	0	0
MTMR8	55613	broad.mit.edu	37	X	63445139	63445139	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:63445139G>A	ENST00000453546.1	-	10	1606	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F	ASB12_ENST00000362002.2_Missense_Mutation_p.S131F|ASB12_ENST00000396130.2_Missense_Mutation_p.S122F			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	322						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.S131F(1)|p.S506F(1)|p.S122F(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACCACCAGGAGAGGCACCAGC	0.542000													4	16					0	0	0.009096	0	0
KCTD15	79047	broad.mit.edu	37	19	34297838	34297838	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr19:34297838C>T	ENST00000284006.6	+	5	565	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	KCTD15_ENST00000588881.1_Missense_Mutation_p.R105W|KCTD15_ENST00000589786.1_Missense_Mutation_p.R105W|KCTD15_ENST00000430256.3_Missense_Mutation_p.R105W	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15		BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R105W(1)		endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					TTTCATTGACCGGGATGGGGA	0.552000													21	80					0	0	0.062417	0	0
LCT	3938	broad.mit.edu	37	2	136548255	136548255	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr2:136548255G>A	ENST00000264162.2	-	15	5318	c.5308C>T	c.(5308-5310)Cgg>Tgg	p.R1770W		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1770	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.R1770W(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATGTAAGTCCGAAGGTAGTAG	0.507000													10	26					0	0	0.058154	0	0
VPS35	55737	broad.mit.edu	37	16	46694417	46694417	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr16:46694417G>A	ENST00000299138.7	-	17	2416	c.2358C>T	c.(2356-2358)tcC>tcT	p.S786S		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	786					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.S786S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTGGCCCCTCGGATTCTGGTG	0.438000													15	52					0	0	0.028581	0	0
MYO3A	53904	broad.mit.edu	37	10	26492008	26492008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr10:26492008C>T	ENST00000265944.5	+	34	4868	c.4702C>T	c.(4702-4704)Cag>Tag	p.Q1568*	MYO3A_ENST00000478093.1_3'UTR|MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1568					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.Q1568*(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAAGAACTCCAGAATCAATG	0.333000													16	55					0	0	0.028581	0	0
IL34	146433	broad.mit.edu	37	16	70694047	70694047	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr16:70694047C>T	ENST00000429149.2	+	7	1241	c.686C>T	c.(685-687)tCg>tTg	p.S229L	IL34_ENST00000288098.2_Missense_Mutation_p.S229L|IL34_ENST00000566361.1_Missense_Mutation_p.S204L	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	229					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	p.S229L(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TCCACGGGCTCGGTGAGGCCG	0.682000													16	104					0	0	0.033300	0	0
LGR5	8549	broad.mit.edu	37	12	71960661	71960661	+	Missense_Mutation	SNP	G	G	C	rs148862507	byFrequency	TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:71960661G>C	ENST00000266674.5	+	11	1350	c.1039G>C	c.(1039-1041)Gtc>Ctc	p.V347L	LGR5_ENST00000536515.1_Missense_Mutation_p.V275L|LGR5_ENST00000540815.2_Missense_Mutation_p.V323L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	347						integral to plasma membrane	protein-hormone receptor activity	p.V347L(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTCAAACCGTCTGCAATCA	0.403000													14	43					0	0	0.020292	0	0
DSCAM	1826	broad.mit.edu	37	21	41447093	41447093	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr21:41447093G>A	ENST00000400454.1	-	27	5236	c.4759C>T	c.(4759-4761)Ctg>Ttg	p.L1587L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1587					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.L1587L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGTCGTCAGCCCTTCTTCG	0.542000													11	22					0	0	0.080935	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415278	213415278	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:213415278G>A	ENST00000366960.3	+	11	2609	c.2459G>A	c.(2458-2460)cGt>cAt	p.R820H	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R808H|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R608H|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.R523H	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	820	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.R820H(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGCTTATTCCGTATTTGTAGT	0.393000													16	70					0	0	0.033300	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717698	24717698	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr22:24717698T>A	ENST00000314328.9	+	5	1035	c.750T>A	c.(748-750)aaT>aaA	p.N250K	SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.N250K|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.N250K|SPECC1L_ENST00000437398.1_Missense_Mutation_p.N250K	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	250					cell cycle|cell division			p.N250K(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGGAACAGAATACTGCCATCC	0.433000													40	140					0	0	0.098360	0	0
EFCAB6	64800	broad.mit.edu	37	22	44107434	44107434	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr22:44107434A>C	ENST00000262726.7	-	10	1205	c.952T>G	c.(952-954)Tct>Gct	p.S318A	EFCAB6_ENST00000358439.4_Missense_Mutation_p.S212A|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S166A	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	318	EF-hand 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.S318A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAATTAAAAGACACGTAGCCA	0.378000													3	19					0	0	0.004672	0	0
CHPT1	56994	broad.mit.edu	37	12	102108412	102108412	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:102108412G>C	ENST00000549872.1	+	3	742	c.552G>C	c.(550-552)ttG>ttC	p.L184F	CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Missense_Mutation_p.L184F			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	184					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	p.L184F(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGGCATGTTGAGATTTGGAA	0.328000													17	73					0	0	0.049695	0	0
TASP1	55617	broad.mit.edu	37	20	13610642	13610642	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr20:13610642T>A	ENST00000337743.4	-	2	204	c.84A>T	c.(82-84)aaA>aaT	p.K28N	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.K28N|TASP1_ENST00000544472.1_Missense_Mutation_p.K28N	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	28					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	p.K28N(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TTTCCAACTCTTTGGCTGTTA	0.458000													33	424					0	0	0.064281	0	0
ZNF99	7652	broad.mit.edu	37	19	22941065	22941065	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr19:22941065G>T	ENST00000397104.3	-	5	1372	c.1373C>A	c.(1372-1374)tCc>tAc	p.S458Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.S549Y					zinc finger protein 99									p.S458Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.333000													11	18					4.68919e-08	5.12461e-08	0.069234	1	0
RHBG	57127	broad.mit.edu	37	1	156347203	156347203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:156347203C>T	ENST00000400992.2	+	3	460	c.92C>T	c.(91-93)gCc>gTc	p.A31V	RHBG_ENST00000368246.2_Missense_Mutation_p.A100V|RHBG_ENST00000255013.3_Missense_Mutation_p.A31V|RHBG_ENST00000368249.1_Missense_Mutation_p.A100V|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_Missense_Mutation_p.A31V			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	100					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.A100V(2)|p.A31V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCCGCCTTTGCCCTGCAGTGG	0.627000													4	174					0	0	0.009096	0	0
RERGL	79785	broad.mit.edu	37	12	18234161	18234161	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:18234161G>C	ENST00000229002.2	-	6	788	c.582C>G	c.(580-582)atC>atG	p.I194M	RERGL_ENST00000538724.1_Missense_Mutation_p.I193M	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	194	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.I194M(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ATACATTATTGATCAATTTGG	0.333000													8	79					0	0	0.047766	0	0
SP7	121340	broad.mit.edu	37	12	53722482	53722482	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:53722482G>A	ENST00000536324.2	-	3	1027	c.744C>T	c.(742-744)ccC>ccT	p.P248P	SP7_ENST00000303846.3_Silent_p.P248P|SP7_ENST00000537210.2_Silent_p.P230P	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P248P(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CACCCCGTGGGGGTTTGGCTC	0.612000													23	40					0	0	0.069288	0	0
ACAD11	84129	broad.mit.edu	37	3	132360902	132360902	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:132360902C>A	ENST00000264990.6	-	4	1422	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	ACAD11_ENST00000481970.2_Nonsense_Mutation_p.E151*|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Nonsense_Mutation_p.E151*|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11									p.E151*(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCCAATGTTTCTACCGTGGCC	0.443000													19	103					0.000295444	0.000311744	0.069288	1	0
CLEC4C	170482	broad.mit.edu	37	12	7883442	7883442	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:7883442G>A	ENST00000542353.1	-	6	938	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	CLEC4C_ENST00000360345.3_Missense_Mutation_p.R150W|CLEC4C_ENST00000354629.5_Missense_Mutation_p.R119W|CLEC4C_ENST00000540085.1_Missense_Mutation_p.R119W	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	150	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.R150W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CAATGTCGCCGACCCCCTGGA	0.433000													18	361					0	0	0.043863	0	0
SNRPB	6628	broad.mit.edu	37	20	2446424	2446424	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr20:2446424A>C	ENST00000381342.2	-	3	359	c.197T>G	c.(196-198)gTc>gGc	p.V66G	SNRPB_ENST00000438552.2_Missense_Mutation_p.V66G|SNRPB_ENST00000339610.6_5'UTR	NM_003091.3	NP_003082.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	66					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	p.V66G(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CAGACCGAGGACTCGCTTCTC	0.498000													21	66					0	0	0.076483	0	0
NISCH	11188	broad.mit.edu	37	3	52491871	52491871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:52491871C>T	ENST00000345716.4	+	2	240	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	NISCH_ENST00000420808.2_Nonsense_Mutation_p.Q36*|NISCH_ENST00000488380.1_Nonsense_Mutation_p.Q36*|NISCH_ENST00000479054.1_Nonsense_Mutation_p.Q36*	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	36	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	p.Q36*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TTACATCATCCAGGTCACTGA	0.507000													60	121					0	0	0.048971	0	0
ULK1	8408	broad.mit.edu	37	12	132405682	132405682	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:132405682G>A	ENST00000321867.4	+	27	3350	c.2999G>A	c.(2998-3000)cGt>cAt	p.R1000H	ULK1_ENST00000540647.1_Missense_Mutation_p.R245H	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1000					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.R1000H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TTCCAGCACCGTGAGGGCTGC	0.667000													8	38					0	0	0.038147	0	0
ASCC3	10973	broad.mit.edu	37	6	101246710	101246710	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr6:101246710A>G	ENST00000369162.2	-	8	1618	c.1274T>C	c.(1273-1275)aTt>aCt	p.I425T	ASCC3_ENST00000522650.1_Missense_Mutation_p.I425T	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.I425T(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCTGGCAAAATCATCTATAA	0.338000													4	7					0	0	0.009096	0	0
RC3H1	149041	broad.mit.edu	37	1	173941653	173941653	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:173941653C>A	ENST00000367696.2	-	8	1566	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q405H|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q405H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	405					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q405H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTACCTGCTGCTGATCTGCTC	0.443000													15	67					0.000219431	0.000233146	0.020292	1	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								6	281					0	0	0.047766	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848135	45848135	+	RNA	SNP	T	T	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr15:45848135T>C	ENST00000409454.1	+	0	1130																											CCAAGTGAAGTGTGTGCATTT	0.378000													15	45					0	0	0.043863	0	0
CDH9	1007	broad.mit.edu	37	5	26889976	26889976	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr5:26889976G>A	ENST00000231021.4	-	9	1653	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	494	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T494I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACAAACAAATGTTTCATAATA	0.328000													24	64					0	0	0.076483	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561433	32561433	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr14:32561433A>G	ENST00000345122.3	+	2	1873	c.1558A>G	c.(1558-1560)Aca>Gca	p.T520A	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.T520A|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.T520A|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.T520A|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	520	FF 4.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.T520A(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGAAATTCATACAGTTCTGAG	0.333000													3	33					0	0	0.014758	0	0
PYGO2	90780	broad.mit.edu	37	1	154932319	154932319	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:154932319G>A	ENST00000368457.2	-	3	328	c.157C>T	c.(157-159)Cct>Tct	p.P53S	PYGO2_ENST00000368456.1_Missense_Mutation_p.P16S|PYGO2_ENST00000483463.1_5'UTR	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	53	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.P53S(1)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGTATGCAGGGCCCTAGTGA	0.507000													8	30					0	0	0.038147	0	0
IKBKAP	8518	broad.mit.edu	37	9	111685159	111685159	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr9:111685159C>T	ENST00000374647.5	-	6	822	c.515G>A	c.(514-516)gGa>gAa	p.G172E	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	172					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.G172E(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCCTTCTGATCCATGGAACTG	0.413000													29	50					0	0	0.080422	0	0
ZNF638	27332	broad.mit.edu	37	2	71576712	71576712	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr2:71576712G>A	ENST00000409544.1	+	2	1258	c.628G>A	c.(628-630)Gat>Aat	p.D210N	ZNF638_ENST00000377802.2_Missense_Mutation_p.D210N|ZNF638_ENST00000355812.3_Missense_Mutation_p.D210N|ZNF638_ENST00000264447.4_Missense_Mutation_p.D210N|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	210					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.D210N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TAATGTGATCGATTATGGGCA	0.383000													5	109					0	0	0.014758	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130318901	130318901	+	Silent	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:130318901C>T	ENST00000299164.2	+	1	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	11					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.F11F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCTGGCTTTCGCCGGGCGAA	0.711000													6	33					0	0	0.038147	0	0
C5orf42	65250	broad.mit.edu	37	5	37157947	37157947	+	Silent	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr5:37157947C>T	ENST00000274258.7	-	40	8063	c.4476G>A	c.(4474-4476)gtG>gtA	p.V1492V	C5orf42_ENST00000425232.2_Intron|C5orf42_ENST00000508244.1_Intron			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2604								p.V1492V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAATGTCAATCACATTTATAT	0.353000													24	28					0	0	0.076483	0	0
CUBN	8029	broad.mit.edu	37	10	17083212	17083212	+	Silent	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr10:17083212C>T	ENST00000377833.4	-	27	3902	c.3837G>A	c.(3835-3837)gaG>gaA	p.E1279E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1279	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1279E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACCACATTCTCACATGCTG	0.343000													36	42					0	0	0.086207	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438756	37438756	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr10:37438756A>T	ENST00000374660.1	+	11	1555	c.1456A>T	c.(1456-1458)Aat>Tat	p.N486Y	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.N486Y|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.N486Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	542						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.N486Y(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAATTGAAGAATGAACAAAC	0.323000													8	48					0	0	0.038147	0	0
SPESP1	246777	broad.mit.edu	37	15	69238675	69238675	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr15:69238675G>A	ENST00000310673.3	+	2	956	c.802G>A	c.(802-804)Gca>Aca	p.A268T	NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	268	Poly-Ala.				multicellular organismal development	acrosomal vesicle		p.A268T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTTGCTCTAGCAGCAGCAGC	0.383000													11	38					0	0	0.093190	0	0
UBN2	254048	broad.mit.edu	37	7	138943309	138943309	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr7:138943309C>T	ENST00000473989.3	+	4	739	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	UBN2_ENST00000288561.8_Missense_Mutation_p.R164C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2									p.R164C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCTACAGTTTCGCCAAGCTTC	0.363000													13	46					0	0	0.105934	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413982	139413982	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr9:139413982C>A	ENST00000277541.6	-	5	853	c.778G>T	c.(778-780)Gat>Tat	p.D260Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	260	EGF-like 7; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D260Y(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTGGACAATCGTCGATATTT	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			86	117					3.33908e-46	3.81253e-46	0.048971	1	0
USP19	10869	broad.mit.edu	37	3	49152979	49152979	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:49152979G>A	ENST00000453664.1	-	12	2068	c.1750C>T	c.(1750-1752)Ctg>Ttg	p.L584L	USP19_ENST00000434032.2_Silent_p.L594L|USP19_ENST00000398898.2_Silent_p.L533L|USP19_ENST00000398896.1_Silent_p.L301L|USP19_ENST00000398888.2_Silent_p.L493L|USP19_ENST00000398892.3_Silent_p.L533L|USP19_ENST00000417901.1_Silent_p.L596L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	493					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.L581L(1)|p.L594L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGCCTGGCAGACACAccttc	0.557000													7	14					0	0	0.029380	0	0
SCAF11	9169	broad.mit.edu	37	12	46345474	46345474	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:46345474G>C	ENST00000369367.3	-	4	489	c.256C>G	c.(256-258)Cag>Gag	p.Q86E	SCAF11_ENST00000419565.2_Missense_Mutation_p.Q86E	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	86					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.Q86E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AACACTGCCTGAAAAGGTTTA	0.284000													16	63					0	0	0.043863	0	0
C2CD5	9847	broad.mit.edu	37	12	22688194	22688194	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:22688194C>G	ENST00000333957.4	-	3	430	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	C2CD5_ENST00000542676.1_Missense_Mutation_p.E59Q|C2CD5_ENST00000545552.1_Missense_Mutation_p.E59Q|C2CD5_ENST00000536386.1_Missense_Mutation_p.E59Q|C2CD5_ENST00000396028.2_Missense_Mutation_p.E59Q|C2CD5_ENST00000446597.1_Missense_Mutation_p.E59Q|C2CD5_ENST00000544930.1_5'UTR	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5									p.E59Q(1)									AAACTTACCTCAAATTTAAAC	0.333000													7	29					0	0	0.047766	0	0
TRIM41	90933	broad.mit.edu	37	5	180661677	180661677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr5:180661677G>A	ENST00000315073.5	+	6	2505	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	599	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.A599T(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGACTCTAGCCCACGTGCA	0.587000													36	81					0	0	0.064281	0	0
TMEM184A	202915	broad.mit.edu	37	7	1594929	1594929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr7:1594929C>T	ENST00000297477.5	-	2	508	c.192G>A	c.(190-192)tgG>tgA	p.W64*		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	64						integral to membrane		p.W64*(1)		endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCAGGGCAGTCCACACGAAGA	0.687000													16	22					0	0	0.024245	0	0
OR6M1	390261	broad.mit.edu	37	11	123676993	123676993	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:123676993C>T	ENST00000309154.2	-	1	102	c.65G>A	c.(64-66)cGa>cAa	p.R22Q		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GAGAGATATTCGAATCTCCAG	0.458000													12	25					0	0	0.105934	0	0
PLXNB3	5365	broad.mit.edu	37	X	153035386	153035386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:153035386C>T	ENST00000538966.1	+	8	1961	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*	PLXNB3_ENST00000538282.1_Nonsense_Mutation_p.Q151*|PLXNB3_ENST00000538543.1_Nonsense_Mutation_p.Q91*|PLXNB3_ENST00000361971.5_Nonsense_Mutation_p.Q541*|PLXNB3_ENST00000538776.1_Nonsense_Mutation_p.Q194*	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	541					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.Q541*(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCAGGAGCAGGGCCAGGT	0.682000													14	18					0	0	0.028581	0	0
CMSS1	84319	broad.mit.edu	37	3	99891191	99891191	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:99891191G>C	ENST00000421999.2	+	8	757	c.611G>C	c.(610-612)cGt>cCt	p.R204P	CMSS1_ENST00000489081.1_Missense_Mutation_p.R186P	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)									p.R204P(1)									CTGGAGAAGCGTGTGGTGCAC	0.458000													4	53					0	0	0.009096	0	0
HTATIP2	10553	broad.mit.edu	37	11	20385976	20385976	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:20385976G>T	ENST00000451739.2	+	1	634	c.193G>T	c.(193-195)Gtg>Ttg	p.V65L	HTATIP2_ENST00000421577.2_Missense_Mutation_p.V65L|HTATIP2_ENST00000532081.1_Missense_Mutation_p.V65L|HTATIP2_ENST00000443524.2_Missense_Mutation_p.V65L|HTATIP2_ENST00000532505.1_Missense_Mutation_p.V65L|HTATIP2_ENST00000530266.1_Missense_Mutation_p.V65L|HTATIP2_ENST00000531058.1_Missense_Mutation_p.V65L|HTATIP2_ENST00000419348.2_Missense_Mutation_p.V99L	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	65					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	p.V65L(1)		large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTATAAAAATGTGGTGGGTAT	0.512000													6	17					8.12818e-05	8.75783e-05	0.029380	1	0
KIAA1033	23325	broad.mit.edu	37	12	105535024	105535024	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:105535024G>C	ENST00000332180.5	+	18	1874	c.1787G>C	c.(1786-1788)cGa>cCa	p.R596P		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	596					endosome transport	WASH complex		p.R596P(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CTTAGAGAACGGTAAGTAGGA	0.338000													9	89					0	0	0.080935	0	0
CEP89	84902	broad.mit.edu	37	19	33444638	33444638	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr19:33444638G>A	ENST00000305768.5	-	4	463	c.375C>T	c.(373-375)gaC>gaT	p.D125D	CEP89_ENST00000590597.2_Silent_p.D125D	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole		p.D125D(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTCCTCTTCGTCCCCATAGT	0.498000													22	123					0	0	0.076483	0	0
SLC20A1	6574	broad.mit.edu	37	2	113414767	113414767	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr2:113414767G>T	ENST00000272542.3	+	6	1266	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	243					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.A243S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGTTTTCTGTGCCCTTATCGT	0.413000													16	64					4.7546e-09	5.27141e-09	0.028581	1	0
GOLGB1	2804	broad.mit.edu	37	3	121417163	121417163	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:121417163T>A	ENST00000393667.3	-	13	2317	c.2207A>T	c.(2206-2208)aAt>aTt	p.N736I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.N731I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	731					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.N731I(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTGTCAGCATTTTTCTTAAA	0.378000													18	83					0	0	0.038395	0	0
MATN4	8785	broad.mit.edu	37	20	43927067	43927067	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr20:43927067G>A	ENST00000537548.1	-	8	1413	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	MATN4_ENST00000360607.6_Missense_Mutation_p.S349L|MATN4_ENST00000342716.4_Missense_Mutation_p.S390L|MATN4_ENST00000372754.1_Missense_Mutation_p.S431L|MATN4_ENST00000372751.4_Missense_Mutation_p.S241L|MATN4_ENST00000372756.1_Missense_Mutation_p.S390L|MATN4_ENST00000353917.5_Missense_Mutation_p.S308L			O95460	MATN4_HUMAN	matrilin 4	431	VWFA 2.					extracellular region	protein binding	p.S390L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CACGCGGCTCGAGAACTGCAC	0.637000													4	50					0	0	0.009096	0	0
BCKDK	10295	broad.mit.edu	37	16	31122038	31122038	+	Silent	SNP	T	T	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr16:31122038T>C	ENST00000394951.1	+	9	1295	c.672T>C	c.(670-672)cgT>cgC	p.R224R	BCKDK_ENST00000219794.6_Silent_p.R224R|BCKDK_ENST00000287507.3_Silent_p.R224R|BCKDK_ENST00000394950.3_Silent_p.R224R			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	224	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	p.R224R(1)		breast(1)|stomach(1)	2						TCTGTACTCGTCTCTCACCAA	0.577000													5	211					0	0	0.021553	0	0
CDH11	1009	broad.mit.edu	37	16	64984769	64984769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr16:64984769C>T	ENST00000394156.3	-	12	2248	c.1795G>A	c.(1795-1797)Ggg>Agg	p.G599R	CDH11_ENST00000566827.1_Missense_Mutation_p.G473R|CDH11_ENST00000268603.4_Missense_Mutation_p.G599R			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	599	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G599R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGCAGTGCCCCGTTCACGTCG	0.612000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			10	26					0	0	0.058154	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904909	205904909	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:205904909C>T	ENST00000367135.3	-	2	153	c.40G>A	c.(40-42)Gca>Aca	p.A14T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A14T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A14T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	14						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.A14T(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGGAGTATGCGGCTCTGTCT	0.557000													8	98					0	0	0.047766	0	0
CLEC4D	338339	broad.mit.edu	37	12	8672931	8672931	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:8672931G>A	ENST00000299665.2	+	5	687	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	165	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.R165H(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTAACCCACGCAGAGTGTAA	0.418000													10	87					0	0	0.069234	0	0
FLRT1	23769	broad.mit.edu	37	11	63884475	63884475	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:63884475C>T	ENST00000246841.3	+	2	1779	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	218					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R246C(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CACCTTCAGCCGCCTACAGAA	0.657000													3	9					0	0	0.004672	0	0
KIF6	221458	broad.mit.edu	37	6	39545902	39545902	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr6:39545902G>T	ENST00000287152.7	-	10	1205	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	KIF6_ENST00000373216.3_Missense_Mutation_p.L371M|KIF6_ENST00000538893.1_Missense_Mutation_p.L371M|KIF6_ENST00000373215.3_Missense_Mutation_p.L371M|KIF6_ENST00000373213.4_Missense_Mutation_p.L210M	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	371					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.L371M(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCATCCTTCAGTTCCTGGATT	0.443000													13	76					2.61681e-11	2.94392e-11	0.020292	1	0
GPR108	56927	broad.mit.edu	37	19	6730391	6730391	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr19:6730391T>G	ENST00000264080.7	-	18	1590	c.1564A>C	c.(1564-1566)Acg>Ccg	p.T522P	GPR108_ENST00000430424.4_Missense_Mutation_p.T280P|GPR108_ENST00000598626.1_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	522						integral to membrane		p.T522P(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCAGAGTCCGTCATTCTGGGG	0.627000													18	38					0	0	0.043863	0	0
MYO10	4651	broad.mit.edu	37	5	16672863	16672863	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr5:16672863G>A	ENST00000513610.1	-	37	5698	c.5244C>T	c.(5242-5244)aaC>aaT	p.N1748N	MYO10_ENST00000515803.1_Silent_p.N1087N|MYO10_ENST00000505695.1_Silent_p.N1087N|MYO10_ENST00000427430.2_Silent_p.N1105N|MYO10_ENST00000274203.9_Silent_p.N1105N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1748	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.N1748N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGACGTGGCCGTTGTATTCAA	0.498000													4	80					0	0	0.009096	0	0
WDR72	256764	broad.mit.edu	37	15	53907975	53907975	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr15:53907975C>A	ENST00000396328.1	-	15	2667	c.2428G>T	c.(2428-2430)Gat>Tat	p.D810Y	WDR72_ENST00000360509.5_Missense_Mutation_p.D810Y|WDR72_ENST00000559418.1_Missense_Mutation_p.D820Y|WDR72_ENST00000557913.1_Missense_Mutation_p.D807Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	810								p.D810Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TAATCTAAATCTTTATCCACT	0.358000													18	79					2.94398e-08	3.2405e-08	0.043863	1	0
TKTL1	8277	broad.mit.edu	37	X	153543532	153543532	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:153543532C>T	ENST00000369915.3	+	7	1063	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	TKTL1_ENST00000217905.7_Missense_Mutation_p.R32W|TKTL1_ENST00000369912.2_Missense_Mutation_p.R236W	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	292					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.R292W(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATAGCTACTCGGAAAGCATG	0.458000													21	92					0	0	0.069288	0	0
HCN1	348980	broad.mit.edu	37	5	45262052	45262052	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr5:45262052C>T	ENST00000303230.4	-	8	2701	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	882						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.E882K(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGTGGCTTTTCTGCGTCTGGG	0.463000													26	277					0	0	0.034045	0	0
STK38	11329	broad.mit.edu	37	6	36489515	36489515	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr6:36489515T>C	ENST00000229812.7	-	5	671	c.386A>G	c.(385-387)gAg>gGg	p.E129G		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	129	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	p.E129G(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTACCTGCTCTTTTTCAAG	0.299000													20	76					0	0	0.076483	0	0
NBPF1	55672	broad.mit.edu	37	1	16907361	16907361	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:16907361G>A	ENST00000430580.2	-	16	2357	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	490	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCTGGTTGGAGTCACAAGGGC	0.493000													55	737					0	0	0.048971	0	0
RXRG	6258	broad.mit.edu	37	1	165378870	165378870	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:165378870C>A	ENST00000359842.5	-	7	1273	c.971G>T	c.(970-972)gGc>gTc	p.G324V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	324	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.G324V(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CAGAAGGATGCCATCCTGCAC	0.537000													6	16					0.00116845	0.00122447	0.021553	1	0
DGKE	8526	broad.mit.edu	37	17	54912463	54912463	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr17:54912463G>C	ENST00000284061.3	+	2	487	c.307G>C	c.(307-309)Gac>Cac	p.D103H	C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.D103H|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	103					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.D103H(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CAGGAAGGCCGACAAGCGCTT	0.647000													11	38					0	0	0.069234	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214266	140214266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr5:140214266G>A	ENST00000525929.1	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A100T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1												p.A100T(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGCGGAGTGCAG	0.557000													56	184					0	0	0.048971	0	0
BOC	91653	broad.mit.edu	37	3	112992056	112992056	+	Missense_Mutation	SNP	C	C	T	rs142142926		TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:112992056C>T	ENST00000495514.1	+	8	1806	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	BOC_ENST00000355385.3_Missense_Mutation_p.R368C|BOC_ENST00000273395.4_Missense_Mutation_p.R368C			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	368	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.R368C(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTCCAGCCAGCGCCTCCGGCT	0.687000													12	46					0	0	0.080935	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590744	136590744	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr6:136590744T>C	ENST00000531224.1	-	9	2302	c.2050A>G	c.(2050-2052)Aaa>Gaa	p.K684E	BCLAF1_ENST00000527759.1_Missense_Mutation_p.K682E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K511E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K682E|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K682E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K684E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	684					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.K684E(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTAATTTTTTATCTCCCTAT	0.358000													7	14					0	0	0.058154	0	0
ZNF275	10838	broad.mit.edu	37	X	152612888	152612888	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:152612888C>T	ENST00000421401.3	+	4	922	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	ZNF275_ENST00000440091.1_Missense_Mutation_p.R279C|ZNF275_ENST00000370251.3_Missense_Mutation_p.R249C|ZNF275_ENST00000370249.2_Missense_Mutation_p.R196C			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	249						intracellular	nucleic acid binding|zinc ion binding	p.R196C(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGGATCGCCAGGAGCT	0.597000													11	76					0	0	0.069234	0	0
OAS1	4938	broad.mit.edu	37	12	113355534	113355534	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:113355534T>C	ENST00000452357.2	+	5	1257	c.1067T>C	c.(1066-1068)tTc>tCc	p.F356S	OAS1_ENST00000202917.5_Intron|OAS1_ENST00000445409.2_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Intron	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	0					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.F356S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TCCCTGCCATTCATCCCTGCC	0.493000													17	60					0	0	0.033300	0	0
RBBP6	5930	broad.mit.edu	37	16	24580584	24580584	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr16:24580584A>G	ENST00000319715.4	+	17	3005	c.2573A>G	c.(2572-2574)gAg>gGg	p.E858G	RBBP6_ENST00000348022.2_Missense_Mutation_p.E824G|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	858					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E858G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCAAATAGAGAGAACTTTTCT	0.428000													34	60					0	0	0.074837	0	0
SARNP	84324	broad.mit.edu	37	12	56189844	56189844	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:56189844C>T	ENST00000546837.1	-	10	1204	c.1205G>A	c.(1204-1206)aGt>aAt	p.S402N	SARNP_ENST00000552080.1_Missense_Mutation_p.V90M|SARNP_ENST00000444631.2_Missense_Mutation_p.V30M|SARNP_ENST00000336133.3_Missense_Mutation_p.V90M														p.V90M(1)									ATTTTCACCACTTTCTTCTCT	0.368000													6	53					0	0	0.029380	0	0
SRRM2	23524	broad.mit.edu	37	16	2806515	2806515	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr16:2806515G>A	ENST00000301740.8	+	2	699	c.150G>A	c.(148-150)gtG>gtA	p.V50V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	50						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.V50V(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGCCCTGGTGAAGCGGCCTA	0.672000													17	50					0	0	0.033300	0	0
ARSF	416	broad.mit.edu	37	X	3030588	3030588	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:3030588G>A	ENST00000381127.1	+	11	1985	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E	ARSF_ENST00000537104.1_Silent_p.E588E|ARSF_ENST00000359361.2_Silent_p.E588E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	588						extracellular region	arylsulfatase activity|metal ion binding	p.E588E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCTAACGAGAAGAGATAAT	0.483000													8	12					0	0	0.038147	0	0
OR8K1	390157	broad.mit.edu	37	11	56113882	56113882	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:56113882C>T	ENST00000279783.2	+	1	462	c.368C>T	c.(367-369)gCa>gTa	p.A123V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A123V(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATTCTATCAGCAATGGCCTAT	0.403000										HNSCC(65;0.19)			15	110					0	0	0.028581	0	0
KIAA1841	84542	broad.mit.edu	37	2	61315572	61315572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr2:61315572C>T	ENST00000402291.1	+	10	1298	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	KIAA1841_ENST00000356719.2_Nonsense_Mutation_p.R353*|KIAA1841_ENST00000453873.1_Nonsense_Mutation_p.R353*|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Nonsense_Mutation_p.R353*	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	353								p.R353*(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CAATGTGGATCGACGTGGAAA	0.284000													12	33					0	0	0.024245	0	0
E2F8	79733	broad.mit.edu	37	11	19252338	19252338	+	Silent	SNP	C	C	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:19252338C>G	ENST00000527884.1	-	8	1342	c.1110G>C	c.(1108-1110)gtG>gtC	p.V370V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.V370V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	370					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V370V(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGACCGTCTCACCTCCAAAT	0.433000													14	26					0	0	0.105934	0	0
PKP2	5318	broad.mit.edu	37	12	32949047	32949047	+	Missense_Mutation	SNP	C	C	T	rs151264959	byFrequency	TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:32949047C>T	ENST00000340811.4	-	11	2461	c.2353G>A	c.(2353-2355)Gat>Aat	p.D785N	PKP2_ENST00000070846.6_Missense_Mutation_p.D829N	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	829					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.D829N(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTTACGCATCGCCTGCACTA	0.488000													45	54					0	0	0.048971	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760960	12760960	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr19:12760960C>T	ENST00000456935.2	-	17	2163	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	MAN2B1_ENST00000221363.4_Missense_Mutation_p.R707Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	708					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	p.R708Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCCAGGTGCCGCTGTCCTGG	0.627000													29	62					0	0	0.034045	0	0
DNAH1	25981	broad.mit.edu	37	3	52384032	52384032	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:52384032C>T	ENST00000420323.2	+	15	2815	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	852	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R852C(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCATCAGCCGCAAGATCTA	0.622000													11	8					0	0	0.069234	0	0
TAGLN3	29114	broad.mit.edu	37	3	111730620	111730620	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:111730620G>A	ENST00000393917.2	+	4	918	c.366G>A	c.(364-366)atG>atA	p.M122I	TAGLN3_ENST00000486460.1_Missense_Mutation_p.M38I|TAGLN3_ENST00000273368.4_Missense_Mutation_p.M122I|TAGLN3_ENST00000455401.2_Missense_Mutation_p.M122I|TAGLN3_ENST00000478951.1_Missense_Mutation_p.M122I	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	122	CH.				central nervous system development|muscle organ development			p.M122I(2)		endometrium(2)|lung(5)|urinary_tract(1)	8						GGAAGGACATGGCAGCTGTGC	0.547000													5	49					0	0	0.038147	0	0
SYNE1	23345	broad.mit.edu	37	6	152639225	152639225	+	Silent	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr6:152639225C>T	ENST00000367255.5	-	86	17164	c.16563G>A	c.(16561-16563)aaG>aaA	p.K5521K	SYNE1_ENST00000265368.4_Silent_p.K5521K|SYNE1_ENST00000356820.4_Silent_p.K45K|SYNE1_ENST00000423061.1_Silent_p.K5450K|SYNE1_ENST00000448038.1_Silent_p.K5450K|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5521					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.K5521K(2)|p.K5450K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGATTGAGCTTGGAGAGCC	0.418000										HNSCC(10;0.0054)			5	64					0	0	0.014758	0	0
CD164L2	388611	broad.mit.edu	37	1	27708287	27708287	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:27708287G>A	ENST00000374027.3	-	4	419	c.356C>T	c.(355-357)cCg>cTg	p.P119L	CD164L2_ENST00000374030.1_Missense_Mutation_p.P119L|CD164L2_ENST00000374025.3_3'UTR	NM_207397.2	NP_997280.1	Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	119						integral to membrane		p.P119L(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACTGTCTTCGGTTCATAGGT	0.602000													5	33					0	0	0.021553	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334734	122334734	+	Silent	SNP	C	C	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr10:122334734C>G	ENST00000398250.1	+	6	889	c.537C>G	c.(535-537)ctC>ctG	p.L179L	PPAPDC1A_ENST00000439221.1_Silent_p.L116L|PPAPDC1A_ENST00000541332.1_Silent_p.L179L|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000369073.3_Silent_p.L169L	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	179					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.L179L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCTGGCGGCTCTGTGCTGCCA	0.607000													20	89					0	0	0.055883	0	0
CD1D	912	broad.mit.edu	37	1	158152875	158152875	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:158152875G>T	ENST00000368171.3	+	5	1314	c.815G>T	c.(814-816)gGg>gTg	p.G272V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	272	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.G272V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGGTGGCTGGGGAGGCAGCT	0.612000													51	36					5.13769e-22	5.82271e-22	0.048971	1	0
MCHR1	2847	broad.mit.edu	37	22	41077528	41077528	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr22:41077528C>A	ENST00000249016.4	+	2	1561	c.865C>A	c.(865-867)Cct>Act	p.P289T	MCHR1_ENST00000381433.2_Missense_Mutation_p.P163T|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	289					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	p.P289T(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CTTTGCCCTGCCTTTTGTGGT	0.617000													19	41					1.96292e-10	2.19217e-10	0.055883	1	0
ARMCX1	51309	broad.mit.edu	37	X	100807941	100807941	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:100807941G>A	ENST00000372829.3	+	4	399	c.28G>A	c.(28-30)Gtg>Atg	p.V10M		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	10						integral to membrane	binding	p.V10M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AGCTGGCTGCGTGGCCGCTGG	0.582000													9	52					0	0	0.080935	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7652173	7652173	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:7652173C>T	ENST00000299492.4	+	11	1370	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L170F|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L216F|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L185F	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	328					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	p.L328F(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAGAGAACTCTCTCAATCAA	0.393000													17	68					0	0	0.043863	0	0
NEFM	4741	broad.mit.edu	37	8	24771630	24771630	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr8:24771630G>A	ENST00000221166.5	+	1	1106	c.324G>A	c.(322-324)ctG>ctA	p.L108L	NEFM_ENST00000437366.2_Silent_p.L108L|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Silent_p.L108L|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	108	Coil 1A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton	p.L108L(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGCAGGGGCTGAACGACCGCT	0.622000													14	6					0	0	0.020292	0	0
KCNF1	3754	broad.mit.edu	37	2	11053802	11053802	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr2:11053802G>A	ENST00000295082.1	+	1	1740	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	417						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R417H(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AACAAGCAGCGCGTCCTGGAG	0.617000													9	56					0	0	0.047766	0	0
CHD1	1105	broad.mit.edu	37	5	98228329	98228329	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr5:98228329G>A	ENST00000284049.3	-	14	2229	c.2080C>T	c.(2080-2082)Ctg>Ttg	p.L694L		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	694					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.L694L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CGGCGTAACAGAAATGGCTCA	0.373000													20	47					0	0	0.055883	0	0
TNN	63923	broad.mit.edu	37	1	175087873	175087873	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:175087873C>A	ENST00000239462.4	+	11	2676	c.2563C>A	c.(2563-2565)Ctg>Atg	p.L855M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	855	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.L855M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGACGGGCCTGAGGCCGGG	0.602000													10	51					6.40141e-05	6.94621e-05	0.080935	1	0
COL5A3	50509	broad.mit.edu	37	19	10089567	10089567	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr19:10089567C>T	ENST00000264828.3	-	40	3049	c.2964G>A	c.(2962-2964)ccG>ccA	p.P988P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	988	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.P988P(3)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGATACTCACCGGGTCCCCAG	0.617000													4	10					0	0	0.014758	0	0
PTGFR	5737	broad.mit.edu	37	1	78958974	78958974	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:78958974G>A	ENST00000370756.3	+	2	783	c.546G>A	c.(544-546)tcG>tcA	p.S182S	PTGFR_ENST00000370758.1_Silent_p.S182S|PTGFR_ENST00000370757.3_Silent_p.S182S	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	182					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.S182S(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TTCAGGCGTCGAGGACCTGGT	0.413000													49	65					0	0	0.048971	0	0
TNN	63923	broad.mit.edu	37	1	175105997	175105997	+	Silent	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:175105997G>A	ENST00000239462.4	+	17	3581	c.3468G>A	c.(3466-3468)gcG>gcA	p.A1156A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1156	Fibrinogen C-terminal.		A -> V (in dbSNP:rs2072036).		cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A1156A(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACTCCAGCGCGGTATGAGG	0.453000													7	40					0	0	0.047766	0	0
ANK1	286	broad.mit.edu	37	8	41573334	41573334	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr8:41573334T>C	ENST00000396942.1	-	14	1521	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V	ANK1_ENST00000379758.2_Missense_Mutation_p.I480V|ANK1_ENST00000265709.8_Missense_Mutation_p.I513V|ANK1_ENST00000347528.4_Missense_Mutation_p.I480V|ANK1_ENST00000352337.4_Missense_Mutation_p.I480V|ANK1_ENST00000289734.7_Missense_Mutation_p.I480V|ANK1_ENST00000396945.1_Missense_Mutation_p.I480V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	480	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.I513V(1)|p.I480V(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGTGGCCGATGCGAGCTGCA	0.542000													14	58					0	0	0.020292	0	0
SCAF11	9169	broad.mit.edu	37	12	46320096	46320096	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:46320096C>G	ENST00000465950.1	-	1	3652	c.2443G>C	c.(2443-2445)Gag>Cag	p.E815Q	SCAF11_ENST00000419565.2_Missense_Mutation_p.E1130Q|SCAF11_ENST00000369367.3_Missense_Mutation_p.E1130Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.E938Q			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1130					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.E1130Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AATGAGAACTCCTGTTCACTT	0.443000													25	99					0	0	0.083992	0	0
ZNF404	342908	broad.mit.edu	37	19	44378000	44378000	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr19:44378000C>G	ENST00000587539.1	-	3	365	c.366G>C	c.(364-366)aaG>aaC	p.K122N	ZNF404_ENST00000324394.6_Missense_Mutation_p.K120N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K120N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TGTTATTTCTCTTATGTAGAG	0.353000													23	116					0	0	0.076483	0	0
THADA	63892	broad.mit.edu	37	2	43801788	43801788	+	Silent	SNP	A	A	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr2:43801788A>G	ENST00000403856.1	-	12	1563	c.1416T>C	c.(1414-1416)gcT>gcC	p.A472A	THADA_ENST00000402360.2_Silent_p.A472A|THADA_ENST00000404790.1_Silent_p.A472A|THADA_ENST00000405006.4_Silent_p.A472A|THADA_ENST00000415080.2_Silent_p.A182A|THADA_ENST00000330266.7_Silent_p.A182A|THADA_ENST00000405975.2_Silent_p.A472A			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	472							binding	p.A472A(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTTATCTATAGCCAAAATAT	0.378000													46	79					0	0	0.048971	0	0
ZNF205	7755	broad.mit.edu	37	16	3169745	3169745	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr16:3169745A>G	ENST00000382192.3	+	7	1289	c.1084A>G	c.(1084-1086)Aag>Gag	p.K362E	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.K362E	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.K362E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CACGGGCGAGAAGCCCTACAC	0.652000													27	117					0	0	0.037714	0	0
FRAS1	80144	broad.mit.edu	37	4	79369461	79369461	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr4:79369461C>T	ENST00000264895.6	+	44	6705	c.6265C>T	c.(6265-6267)Ctc>Ttc	p.L2089F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2088					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L2089F(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGCCTACAGCTCTCAGCAGG	0.468000													2	4					0	0	0.004672	0	0
LCT	3938	broad.mit.edu	37	2	136587248	136587248	+	Splice_Site	SNP	T	T	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr2:136587248T>C	ENST00000264162.2	-	3	731		c.e3-2			NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.?(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GACCGTGTCCTGAAAATAGTA	0.413000													20	40					0	0	0.043863	0	0
CREB3L3	84699	broad.mit.edu	37	19	4159760	4159760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr19:4159760C>T	ENST00000078445.2	+	4	704	c.557C>T	c.(556-558)tCg>tTg	p.S186L	CREB3L3_ENST00000595923.1_Missense_Mutation_p.S185L|CREB3L3_ENST00000602257.1_Missense_Mutation_p.S186L|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602147.1_Missense_Mutation_p.S186L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	186					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S186L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCCTTTCGGGCAGCAGT	0.617000													20	32					0	0	0.049695	0	0
GAREM	64762	broad.mit.edu	37	18	29867362	29867362	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr18:29867362C>T	ENST00000399218.4	-	4	1253	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	GAREM_ENST00000269209.6_Missense_Mutation_p.E400K	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.E400K(1)									AGGTTCACCTCACTGTTGCCA	0.572000													9	68					0	0	0.047766	0	0
SIK1	150094	broad.mit.edu	37	21	44839282	44839282	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr21:44839282G>A	ENST00000270162.6	-	10	1328	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	399					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S399F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CTGGAGGACGGACTGCACCAA	0.667000													4	29					0	0	0.014758	0	0
PNLDC1	154197	broad.mit.edu	37	6	160221823	160221823	+	Silent	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr6:160221823G>C	ENST00000610273.1	+	2	234	c.63G>C	c.(61-63)acG>acC	p.T21T	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Silent_p.T32T	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding	p.T21T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TAGAGTTCACGGGCCTTCGTT	0.552000													70	58					0	0	0.048971	0	0
ATRX	546	broad.mit.edu	37	X	76776904	76776904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:76776904G>C	ENST00000373344.5	-	33	7262	c.7048C>G	c.(7048-7050)Ctt>Gtt	p.L2350V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L2312V	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2350					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.L2350V(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATATCCTCAAGAGGTTGAATC	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						9	57					0	0	0.069234	0	0
KIAA1324	57535	broad.mit.edu	37	1	109737054	109737055	+	In_Frame_Ins	INS	-	-	TGC			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr1:109737054_109737055insTGC	ENST00000369939.3	+	15	2142_2143	c.1959_1960insTGC	c.(1960-1962)tgc>TGCtgc	p.654_654C>CC	KIAA1324_ENST00000529753.1_In_Frame_Ins_p.567_567C>CC|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	654					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCCACTCTCTGTGCTACAACGA	0.579													18	67	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACACAGGCCCctgctgctgctgc	0.665													9	246	---	---	---	---					
RBM27	54439	broad.mit.edu	37	5	145647320	145647320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr5:145647320delA	ENST00000265271.5	+	15	2606	c.2440delA	c.(2440-2442)aaafs	p.K816fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.K761fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	816					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGTGCTTAAAAAAAAACA	0.348													20	26	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													3	3	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5430010	5430011	+	Frame_Shift_Del	DEL	AG	AG	-	rs34840801		TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr7:5430010_5430011delAG	ENST00000399434.2	-	3	528_529	c.370_371delCT	c.(370-372)cttfs	p.L124fs	TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	0							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaGCCAGCATCCT	0.550													3	3	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)aggfs	p.R298fs	MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								8	967	---	---	---	---					
WEE1	7465	broad.mit.edu	37	11	9597610	9597612	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr11:9597610_9597612delGTC	ENST00000299613.6	+	2	865_867	c.110_112delGTC	c.(109-114)tgtcgt>tgt	p.R40del	WEE1_ENST00000450114.2_In_Frame_Del_p.R254del	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	254	Poly-Glu.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TCAGGACAGTGTCGTCGTAGAAA	0.360													24	67	---	---	---	---					
SYT10	341359	broad.mit.edu	37	12	33579285	33579286	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr12:33579285_33579286insT	ENST00000228567.3	-	2	592_593	c.296_297insA	c.(295-297)agcfs	p.S99fs	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	99						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CACTTGAAATGCTCTGTGGAAG	0.416													11	80	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													3	6	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25481201	25481201	+	RNA	DEL	T	T	-			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr15:25481201delT	ENST00000453082.2	+	0	1934					NR_003343.1																						CCACTGGAAGTTTTTTTTGCG	0.512													9	882	---	---	---	---					
PRC1	9055	broad.mit.edu	37	15	91513733	91513734	+	In_Frame_Ins	INS	-	-	GTA			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr15:91513733_91513734insGTA	ENST00000361188.5	-	12	2683_2684	c.1472_1473insTAC	c.(1471-1473)acc>acTACc	p.491_491T>TT	PRC1_ENST00000394249.3_In_Frame_Ins_p.491_491T>TT|PRC1_ENST00000442656.2_In_Frame_Ins_p.450_450T>TT|PRC1_ENST00000361919.3_In_Frame_Ins_p.491_491T>TT|PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	491	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TGGACATGGTGGTAGTGTTCAG	0.515													68	60	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													4	9	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465981	59465981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chr17:59465981delA	ENST00000589222.1	+	25	2730	c.2662delA	c.(2662-2664)aaafs	p.K890fs	BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588462.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000408905.3_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCAAAAGGGAAAAAAAAAGG	0.443													2	4	---	---	---	---					
PNMA3	29944	broad.mit.edu	37	X	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A20V-01A-11D-A14W-08	TCGA-BT-A20V-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	973d0577-8ca4-44a1-817f-1d3c1bada151	f88b2f4c-15f1-4808-bcec-89abc7466de6	g.chrX:152225996_152225997insG	ENST00000447306.1	+	2	920_921	c.584_585insG	c.(583-588)caggtgfs	p.V196fs	PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.V196fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.V196fs	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	196					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574													8	192	---	---	---	---