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
GRIA3	2892	broad.mit.edu	37	X	122599615	122599615	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:122599615C>T	ENST00000264357.5	+	14	2707	c.2415C>T	c.(2413-2415)tgC>tgT	p.C805C	GRIA3_ENST00000371251.1_Silent_p.C805C|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Silent_p.C805C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	805					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.C805C(1)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AAGGAGAGTGCGGCAGCGGGG	0.468000													7	54					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105505022	105505022	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:105505022C>T	ENST00000332180.5	+	2	268	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	61					endosome transport	WASH complex				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						GGATTTCAATCTTGATCCTAT	0.299000													4	43					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873367	91873367	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:91873367C>T	ENST00000373094.1	+	7	4317	c.3472C>T	c.(3472-3474)Ctg>Ttg	p.L1158L	PCDH11X_ENST00000361655.2_Silent_p.L1140L|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Silent_p.L1121L|PCDH11X_ENST00000406881.1_Silent_p.L1150L|PCDH11X_ENST00000373097.1_Silent_p.L1148L|PCDH11X_ENST00000373088.1_Silent_p.L1121L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1158					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCGGCATCTCTGGATCATTC	0.532000													20	67					0	0	1	0	0
RAET1G	353091	broad.mit.edu	37	6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	51	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532000													5	197					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539108	56539108	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:56539108C>T	ENST00000390649.3	+	7	1509	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	503	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCTGCACGCCGCTTTTGTGT	0.632000													15	32					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973189	121973189	+	Silent	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:121973189C>G	ENST00000498619.1	+	2	591	c.153C>G	c.(151-153)ctC>ctG	p.L51L	CASR_ENST00000490131.1_Silent_p.L51L|CASR_ENST00000296154.5_Silent_p.L51L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	51					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATCAAGATCTCAAATCAAGGC	0.498000													16	106					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321214	78321214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:78321214C>T	ENST00000582970.1	+	29	9222	c.9079C>T	c.(9079-9081)Cag>Tag	p.Q3027*	RNF213_ENST00000336301.6_Nonsense_Mutation_p.Q1100*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q3076*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGGCCTTCTCAGAAGGTGCC	0.532000													7	79					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28662356	28662356	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28662356C>A	ENST00000280904.6	-	9	1554	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	DSC2_ENST00000251081.6_Missense_Mutation_p.V371L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	371	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGATTTCCACATCAACTGTA	0.323000													7	27					8.12818e-05	8.3397e-05	1	1	0
UBR1	197131	broad.mit.edu	37	15	43350596	43350596	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:43350596G>A	ENST00000290650.4	-	10	1203	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	UBR1_ENST00000382177.2_Silent_p.F375F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	375					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAAACTGCTGAAGATCAATT	0.348000													6	53					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145694699	145694699	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145694699C>G	ENST00000301332.2	+	11	1536	c.1159C>G	c.(1159-1161)Cag>Gag	p.Q387E	KIFC2_ENST00000301331.5_Missense_Mutation_p.Q135E	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	387					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCTGGCACTCAGCTCCCTGA	0.667000													8	27					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777563	123777563	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:123777563C>G	ENST00000321355.2	+	1	455	c.425C>G	c.(424-426)tCt>tGt	p.S142C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AGGGTCTGTTCTCTGCTGGTG	0.502000													21	140					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423875	88423875	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:88423875G>T	ENST00000297203.2	-	2	567	c.382C>A	c.(382-384)Caa>Aaa	p.Q128K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	128								p.Q128*(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATTTTCATTTGTTGAATAAAA	0.343000													9	32					0.00448238	0.00456508	1	1	0
KLHL40	131377	broad.mit.edu	37	3	42728005	42728005	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:42728005G>A	ENST00000287777.4	+	1	995	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_152393.2	NP_689606.2			kelch-like family member 40																		TGAGGAGGCCGAACGTATCCT	0.572000													46	125					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12313752	12313752	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:12313752C>T	ENST00000256186.2	+	2	328	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	13	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ttctcttcctcttccttcatc	0.478000													6	46					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346752	346752	+	Silent	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:346752G>T	ENST00000400256.3	-	5	1077	c.870C>A	c.(868-870)ctC>ctA	p.L290L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	290					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGAATGAGTTGAGCTGGCTGT	0.507000													4	59					1.23904e-05	1.28562e-05	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79465381	79465381	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:79465381C>T	ENST00000376718.3	-	3	465	c.342G>A	c.(340-342)gcG>gcA	p.A114A	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.A114A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	114					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATCTTACCTCGCCAGCACAC	0.438000													6	61					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925334	118925334	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:118925334C>T	ENST00000404233.3	-	7	674	c.550G>A	c.(550-552)Gag>Aag	p.E184K	HYOU1_ENST00000543287.1_Missense_Mutation_p.E97K|HYOU1_ENST00000529972.1_Missense_Mutation_p.E184K|HYOU1_ENST00000525859.1_Missense_Mutation_p.E184K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	184						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCTCGGCGCTCGGCCTGGTTG	0.572000													10	75					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23829051	23829051	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829051C>T	ENST00000216733.3	-	4	1243	c.636G>A	c.(634-636)ccG>ccA	p.P212P	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Silent_p.P119P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	212	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TGGGGGGCCCCGGCTCCCGGC	0.617000													7	140					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30915388	30915388	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:30915388C>G	ENST00000375712.3	+	7	2059	c.1892C>G	c.(1891-1893)tCa>tGa	p.S631*	KIF3B_ENST00000418717.2_Nonsense_Mutation_p.S257*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	631	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGGCCAGTCTCAGCCGTGGGA	0.517000													11	94					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240601	3240601	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:3240601T>C	ENST00000217939.6	-	5	3279	c.3125A>G	c.(3124-3126)cAc>cGc	p.H1042R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1042						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTCACAAGGTGGATGTTGTC	0.428000													16	109					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081020	152081020	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:152081020C>T	ENST00000368804.1	-	2	4672	c.4673G>A	c.(4672-4674)cGc>cAc	p.R1558H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1558	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCGCGGAATTTTCT	0.612000													7	107					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43006377	43006377	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:43006377G>C	ENST00000535468.1	-	24	4832	c.4746C>G	c.(4744-4746)ctC>ctG	p.L1582L	CUL7_ENST00000265348.3_Silent_p.L1498L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1498					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCGCCTGATTGAGCATGTCTG	0.587000													13	144					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7843416	7843416	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7843416G>A	ENST00000380262.3	+	9	2092	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	CNTROB_ENST00000380255.3_Silent_p.E389E|CNTROB_ENST00000563694.1_Silent_p.E389E|CNTROB_ENST00000565740.1_Silent_p.E389E	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	389	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TTTCATAGGAGAAGAGCCAGA	0.517000													27	113					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31728591	31728591	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:31728591C>A	ENST00000493662.2	+	20	2044	c.1988C>A	c.(1987-1989)tCc>tAc	p.S663Y	MSH5_ENST00000375750.3_Missense_Mutation_p.S646Y|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000431848.2_Missense_Mutation_p.S345Y|MSH5_ENST00000375703.3_Missense_Mutation_p.S646Y|MSH5_ENST00000534153.4_Missense_Mutation_p.S663Y|MSH5_ENST00000375740.3_Missense_Mutation_p.S663Y|MSH5_ENST00000375742.3_Missense_Mutation_p.S663Y|MSH5_ENST00000375755.3_Missense_Mutation_p.S646Y|MSH5_ENST00000395853.1_Missense_Mutation_p.S320Y																							CTTGGCCTCTCCACCTTCATG	0.522000													6	33					0.0293803	0.0297032	1	1	0
PLS3	5358	broad.mit.edu	37	X	114869218	114869218	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:114869218C>G	ENST00000420625.2	+	7	742	c.608C>G	c.(607-609)tCt>tGt	p.S203C	PLS3_ENST00000539310.1_Missense_Mutation_p.S158C|PLS3_ENST00000537301.1_Missense_Mutation_p.S181C|PLS3_ENST00000289290.3_Missense_Mutation_p.S158C|PLS3_ENST00000355899.3_Missense_Mutation_p.S203C	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	203	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCACTGAACTCTGCTTCTGCC	0.443000													14	138					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70524841	70524841	+	Silent	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:70524841C>G	ENST00000538820.1	+	10	1129	c.789C>G	c.(787-789)gtC>gtG	p.V263V	ITGB1BP2_ENST00000373829.3_Silent_p.V281V			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	281	CS.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AGAGCTCTGTCTTCTTGATGC	0.532000													14	27					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160942782	160942782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:160942782C>T	ENST00000460469.1	+	2	564	c.109C>T	c.(109-111)Cga>Tga	p.R37*	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Nonsense_Mutation_p.R37*|NMD3_ENST00000472947.1_Nonsense_Mutation_p.R37*			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	37					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GGCCTGTTTGCGAAGTAAAGT	0.383000													4	138					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69672598	69672598	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:69672598G>C	ENST00000374355.3	+	1	444	c.127G>C	c.(127-129)Gat>Cat	p.D43H	DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	0					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GCCCGGAGGGGATGCCAGGTA	0.682000													3	39					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47296258	47296258	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:47296258G>A	ENST00000342922.4	+	3	564	c.207G>A	c.(205-207)atG>atA	p.M69I	MADD_ENST00000395336.3_Missense_Mutation_p.M69I|MADD_ENST00000395344.3_Missense_Mutation_p.M69I|MADD_ENST00000311027.5_Missense_Mutation_p.M69I|MADD_ENST00000349238.3_Missense_Mutation_p.M69I|MADD_ENST00000406482.1_Missense_Mutation_p.M69I|MADD_ENST00000407859.3_Missense_Mutation_p.M69I|MADD_ENST00000402799.1_Missense_Mutation_p.M69I|MADD_ENST00000402192.2_Missense_Mutation_p.M69I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	69	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGCGGCGCATGAGCCTTCGGG	0.567000													34	278					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													6	44					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64097370	64097370	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:64097370G>A	ENST00000371083.4	+	4	1021	c.653G>A	c.(652-654)aGa>aAa	p.R218K	PGM1_ENST00000540265.1_Missense_Mutation_p.R3K|PGM1_ENST00000371084.3_Missense_Mutation_p.R200K	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	200					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACAATGCTGAGAAGCATCTTT	0.373000													26	103					0	0	1	0	0
GRP	2922	broad.mit.edu	37	18	56892771	56892771	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:56892771G>A	ENST00000256857.2	+	2	285	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GRP_ENST00000529320.2_Missense_Mutation_p.E63K|GRP_ENST00000420468.2_Missense_Mutation_p.E63K	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	63					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TTCTGTTTCTGAGAGAGGGAG	0.448000													20	71					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493006	130493006	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:130493006G>A	ENST00000373289.3	+	14	2024	c.1944G>A	c.(1942-1944)tcG>tcA	p.S648S	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	648							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCTCTGACTCGTCACTGTTGA	0.572000													21	54					0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7084836	7084836	+	RNA	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:7084836G>A	ENST00000546220.1	+	0	651				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										AGAGTTGGCTGACAAAACTGT	0.448000													32	47					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941370	130941370	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:130941370C>T	ENST00000538431.1	-	8	1363	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	CIZ1_ENST00000357558.5_Silent_p.Q372Q|CIZ1_ENST00000325721.8_Silent_p.Q343Q|CIZ1_ENST00000277465.4_Silent_p.Q372Q|CIZ1_ENST00000393608.1_Silent_p.Q372Q|CIZ1_ENST00000541172.1_Silent_p.Q271Q|CIZ1_ENST00000372954.1_Silent_p.Q348Q|CIZ1_ENST00000372938.5_Silent_p.Q372Q|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372948.3_Silent_p.Q372Q	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	372	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						gcacctgcttctgtggctctg	0.612000													34	34					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995785	140995785	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:140995785C>G	ENST00000285879.4	+	4	2881	c.2595C>G	c.(2593-2595)agC>agG	p.S865R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	865							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCATTGAGCCCATTCAGTG	0.507000										HNSCC(15;0.026)			19	273					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	48					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799753	133799753	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:133799753G>A	ENST00000372338.4	-	3	825	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	FIBCD1_ENST00000448616.1_Missense_Mutation_p.H195Y|FIBCD1_ENST00000372337.2_Missense_Mutation_p.H37Y|FIBCD1_ENST00000253018.4_Missense_Mutation_p.H37Y	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	195					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TTCACCAGGTGAGCCATGTGG	0.692000													8	22					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4070112	4070112	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:4070112G>C	ENST00000274673.3	-	7	748	c.345C>G	c.(343-345)atC>atG	p.I115M	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	115																	TAGGATGATTGATTACATTAA	0.333000													4	58					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111590619	111590619	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111590619G>A	ENST00000304987.3	+	10	1560	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	463					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGGAGAGGCCGAGGAAGACCC	0.592000													6	52					0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99651803	99651803	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:99651803C>G	ENST00000393483.3	-	17	2348	c.1504G>C	c.(1504-1506)Gtg>Ctg	p.V502L	TSGA10_ENST00000410001.1_Missense_Mutation_p.V502L|TSGA10_ENST00000355053.4_Missense_Mutation_p.V502L|TSGA10_ENST00000539964.1_Missense_Mutation_p.V502L	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	502					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGAGCGGACACTTTTTCAAAC	0.383000													7	52					0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151196743	151196743	+	Silent	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:151196743C>G	ENST00000409426.1	+	2	553	c.108C>G	c.(106-108)ccC>ccG	p.P36P	PIP5K1A_ENST00000441902.2_Silent_p.P36P|PIP5K1A_ENST00000368890.4_Silent_p.P35P|PIP5K1A_ENST00000368888.4_Silent_p.P36P			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	36					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAAGAGACCCATGGCATCTG	0.378000													8	144					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13753256	13753256	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:13753256A>T	ENST00000202816.1	-	5	1262	c.1155T>A	c.(1153-1155)taT>taA	p.Y385*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATTCTGAAGGATATATCTAAA	0.363000													16	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7573010	7573010	+	Splice_Site	SNP	T	T	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7573010T>A	ENST00000420246.2	-	12	1366		c.e12-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(3)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGGTGGCTGTAGGAGACA	0.507000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			54	59					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349483	65349483	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:65349483G>A	ENST00000284037.5	+	21	2726	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	ERBB2IP_ENST00000506030.1_Silent_p.E779E|ERBB2IP_ENST00000508515.1_Silent_p.E779E|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Silent_p.E779E|ERBB2IP_ENST00000380938.2_Silent_p.E779E|ERBB2IP_ENST00000380939.2_Silent_p.E779E|ERBB2IP_ENST00000380935.1_Silent_p.E779E|ERBB2IP_ENST00000380943.2_Silent_p.E779E|ERBB2IP_ENST00000511297.1_Silent_p.E775E	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	779					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTCAACCAGAGATCATGGAAA	0.328000													8	31					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79291063	79291063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:79291063G>A	ENST00000419573.3	-	19	3173	c.2899C>T	c.(2899-2901)Cag>Tag	p.Q967*	RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q183*|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q951*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	969					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCACCCACCTGAGAGTGCTTG	0.622000													4	73					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958758	49958758	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:49958758C>G	ENST00000376056.2	-	5	729	c.579G>C	c.(577-579)caG>caC	p.Q193H	AKAP4_ENST00000358526.2_Missense_Mutation_p.Q202H|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q193H|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	202					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.Q202H(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGACTGCTCTCTGAGTGCTAG	0.443000													25	181					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	C	rs28392876	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													6	39					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302533	163302533	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:163302533C>T	ENST00000332142.5	-	7	1648	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D510N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	517					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTTACCTCATCAGAACCTGAT	0.363000													6	42					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151849998	151849998	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:151849998G>A	ENST00000355193.2	-	50	12707	c.12489C>T	c.(12487-12489)caC>caT	p.H4163H	KMT2C_ENST00000262189.6_Silent_p.H4106H|KMT2C_ENST00000485241.1_5'UTR					lysine (K)-specific methyltransferase 2C																		GGATTCGGACGTGAAGAAGGT	0.473000													4	141					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2602398	2602398	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:2602398C>T	ENST00000399655.1	+	7	1224	c.959C>T	c.(958-960)aCg>aTg	p.T320M	CACNA1C_ENST00000399649.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T320M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T320M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T320M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T320M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	320					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGCTGGAAACGGGCCACGGG	0.602000													28	75					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404462	113404462	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:113404462G>A	ENST00000272542.3	+	2	596	c.57G>A	c.(55-57)gtG>gtA	p.V19V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	19					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			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						GTCCTTTGGTGGACTACCTAT	0.483000													12	51					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46888624	46888624	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr21:46888624C>G	ENST00000359759.4	+	2	1841	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	COL18A1_ENST00000400337.2_Nonsense_Mutation_p.S192*|COL18A1_ENST00000355480.5_Nonsense_Mutation_p.S372*			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	607	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCTCGGTCCTCACGGGGCCTG	0.657000													12	25					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69350896	69350896	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:69350896C>G	ENST00000193403.6	-	14	2007	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	ACTN1_ENST00000438964.2_Missense_Mutation_p.E542Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.E542Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.E542Q|ACTN1_ENST00000376839.3_Missense_Mutation_p.E477Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	542	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGGATCTCCTCAATGGTGTGC	0.627000													14	45					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73221840	73221840	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:73221840G>A	ENST00000447371.2	+	9	823	c.399G>A	c.(397-399)ctG>ctA	p.L133L	NUP85_ENST00000245544.4_Silent_p.L301L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Silent_p.L255L|NUP85_ENST00000579324.1_Silent_p.L189L|NUP85_ENST00000579298.1_Silent_p.L256L			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	301					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGGAACTTCTGAGTAATTGGT	0.493000													15	97					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74748953	74748953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:74748953G>A	ENST00000567435.1	-	3	707	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	UBL7_ENST00000395081.2_Nonsense_Mutation_p.Q82*|UBL7_ENST00000564488.1_Nonsense_Mutation_p.Q82*|UBL7_ENST00000565335.1_Nonsense_Mutation_p.Q82*|UBL7_ENST00000361351.4_Nonsense_Mutation_p.Q82*			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	82	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GACCCAGGTTGAATGCCATAG	0.473000													29	75					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603415	52603415	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr13:52603415C>A	ENST00000521776.2	+	2	1208	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	159					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCTGGTTTTTCCCCTGGGGAA	0.522000													18	73					1.02788e-11	1.11253e-11	1	1	0
MARCH10	162333	broad.mit.edu	37	17	60814545	60814545	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:60814545C>G	ENST00000544856.2	-	7	1059	c.681G>C	c.(679-681)caG>caC	p.Q227H	MARCH10_ENST00000456609.2_Missense_Mutation_p.Q228H|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q266H|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.Q228H			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	228							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCAGCTCACTCTGGGAAGGAG	0.532000													25	192					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162830	141162830	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:141162830C>T	ENST00000514251.1	+	4	1879	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y	ZBTB38_ENST00000441582.2_Missense_Mutation_p.H534Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.H535Y			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	534					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTCAAAAATCATCAGAAGTC	0.378000													9	71					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936621	178936621	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:178936621G>A	ENST00000286063.5	-	1	861	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	182					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TACCGAGGCAGATTCACTCTC	0.522000									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	113					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114296	66114296	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:66114296G>A	ENST00000311181.4	-	1	867	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	241					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						AGCATTTCCCGCAGGCCTCTC	0.612000													5	143					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371065	48371065	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:48371065C>T	ENST00000395702.2	+	2	760	c.533C>T	c.(532-534)tCa>tTa	p.S178L	ZNF488_ENST00000586537.1_Missense_Mutation_p.S71L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GAGCTAACCTCAGTCTTCCCT	0.562000													20	82					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21133286	21133286	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:21133286T>G	ENST00000261383.3	-	10	1563	c.1564A>C	c.(1564-1566)Aac>Cac	p.N522H	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.N522H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	522	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCATTAGAGTTCTTAATAATT	0.348000													13	50					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16462170	16462170	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:16462170C>T	ENST00000358432.5	-	6	1562	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	470	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TAAGTGACCTCGTACTTCCAC	0.647000													11	71					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37988620	37988620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:37988620G>T	ENST00000199448.4	+	2	827	c.448G>T	c.(448-450)Gag>Tag	p.E150*	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Nonsense_Mutation_p.E89*|EPDR1_ENST00000559325.1_Nonsense_Mutation_p.E270*|EPDR1_ENST00000476620.1_Nonsense_Mutation_p.E48*	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	150					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CACCGTCCAGGAGTGGTCGGA	0.493000													8	91					3.09899e-07	3.27709e-07	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37447507	37447507	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:37447507C>G	ENST00000374660.1	+	15	1824	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.F575L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F575L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	631						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						TGCAAACTTTCAAAGCAGGTA	0.303000													7	54					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348101	16348101	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:16348101C>T	ENST00000408042.1	-	23	4026	c.3869G>A	c.(3868-3870)cGa>cAa	p.R1290Q	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGTATGTTTCGAGATCGAAT	0.453000													15	134					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531209	140531209	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:140531209C>T	ENST00000231136.1	+	1	1371	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	PCDHB6_ENST00000543635.1_Silent_p.F321F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		457	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.F457F(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.612000													23	221					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145157645	145157645	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:145157645C>A	ENST00000367545.3	+	70	10033	c.10033C>A	c.(10033-10035)Cag>Aag	p.Q3345K	UTRN_ENST00000367526.4_Missense_Mutation_p.Q900K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3345					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTGGAGTCTCAGCTCCACCG	0.532000													22	41					1.2644e-06	1.3269e-06	1	1	0
ZSCAN29	146050	broad.mit.edu	37	15	43653870	43653870	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:43653870G>C	ENST00000396976.2	-	5	2094	c.1960C>G	c.(1960-1962)Ctc>Gtc	p.L654V	ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.L264V|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.L265V	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	654					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGTATTTGAGATATTTATAG	0.443000													18	97					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257481	63257481	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:63257481G>A	ENST00000323865.3	-	1	299	c.66C>T	c.(64-66)ggC>ggT	p.G22G	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	22			G -> S (in dbSNP:rs1799920).		behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TAGTGTTGCCGCCGGTCTCAA	0.632000													36	68					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81391435C>T	ENST00000248272.3	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	291					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433000													4	160					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17579328	17579328	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:17579328G>A	ENST00000381861.3	-	1	402	c.83C>T	c.(82-84)cCg>cTg	p.P28L	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000519263.1_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGAACCAGCCGGTGGGGTGAG	0.423000													5	53					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28663006	28663006	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28663006C>T	ENST00000280904.6	-	8	1406	c.963G>A	c.(961-963)ttG>ttA	p.L321L	DSC2_ENST00000251081.6_Silent_p.L321L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	321	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTTTATTTTCAACTGGTACT	0.303000													3	8					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824636	125824636	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:125824636C>T	ENST00000393434.2	-	22	2935	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	ALDH1L1_ENST00000273450.3_Silent_p.T872T|ALDH1L1_ENST00000452905.2_Silent_p.T761T|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.T862T|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	862	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCTTGTTGTACGTGTTGACAA	0.527000													12	161					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32881150	32881150	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:32881150C>T	ENST00000266087.7	+	4	1068	c.741C>T	c.(739-741)tcC>tcT	p.S247S	FBXO7_ENST00000382058.3_Silent_p.S168S|FBXO7_ENST00000397426.1_Silent_p.S133S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	247					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGGCAGCTCCGCTACTCTCA	0.502000													9	75					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47305300	47305300	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:47305300G>A	ENST00000396220.1	-	10	1251	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V	PREX1_ENST00000371941.3_Missense_Mutation_p.A410V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	410					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCCTTCTCCGCAATCATGAC	0.582000													4	125					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204009827	204009827	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:204009827A>T	ENST00000449802.1	+	32	5494	c.5161A>T	c.(5161-5163)Atg>Ttg	p.M1721L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1721							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGAAGCTTTAATGGTAAATAT	0.338000													7	24					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28662371	28662371	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28662371C>T	ENST00000280904.6	-	9	1539	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	DSC2_ENST00000251081.6_Missense_Mutation_p.E366K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	366	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACTGTATTTTCTTCCACTGAT	0.328000													7	25					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10477149	10477149	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:10477149G>C	ENST00000525621.1	-	6	1054	c.573C>G	c.(571-573)ctC>ctG	p.L191L	TYK2_ENST00000529370.1_Silent_p.L191L|TYK2_ENST00000524462.1_Silent_p.L6L|TYK2_ENST00000264818.6_Silent_p.L191L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	191	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAGGTGACAGAGGTGCAGAA	0.582000													22	125					0	0	1	0	0
MAF1	84232	broad.mit.edu	37	8	145160601	145160601	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145160601G>C	ENST00000534585.1	+	2	406	c.15G>C	c.(13-15)gaG>gaC	p.E5D	MAF1_ENST00000322428.5_Missense_Mutation_p.E5D|MAF1_ENST00000532522.1_Missense_Mutation_p.E5D			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	5					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTATTGGAGAACTCGAGCT	0.572000													16	93					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10224616	10224616	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:10224616C>T	ENST00000556468.1	+	13	1614	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.F529F|P2RY11_ENST00000321826.4_Silent_p.F109F					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCTTCCTCTTCACCTGCAACC	0.667000											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	99					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17754216	17754216	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:17754216C>T	ENST00000581396.1	-	12	1275	c.1179G>A	c.(1177-1179)agG>agA	p.R393R	TOM1L2_ENST00000478943.1_Silent_p.R176R|TOM1L2_ENST00000542206.1_Silent_p.R324R|TOM1L2_ENST00000379504.3_Silent_p.R443R|TOM1L2_ENST00000318094.10_Silent_p.R398R|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Silent_p.R419R|TOM1L2_ENST00000395739.4_Silent_p.R398R	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	443					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CCAGGTCGGTCCTGAGCCACA	0.622000													29	112					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51237162	51237162	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51237162C>G	ENST00000245441.5	-	12	1568	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q	NIN_ENST00000324330.9_Missense_Mutation_p.E460Q|NIN_ENST00000389868.3_Missense_Mutation_p.E460Q|NIN_ENST00000453196.1_Missense_Mutation_p.E460Q|NIN_ENST00000382041.3_Missense_Mutation_p.E460Q|NIN_ENST00000382043.4_Missense_Mutation_p.E460Q|NIN_ENST00000530997.2_Missense_Mutation_p.E460Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	460					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTTGCCTTTTCAATTTCCTGT	0.468000			T	PDGFRB	MPD								17	56					0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16120651	16120651	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:16120651G>A	ENST00000225609.5	+	1	128	c.111G>A	c.(109-111)ctG>ctA	p.L37L	PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Silent_p.L37L|PIGL_ENST00000498772.2_Silent_p.L37L|PIGL_ENST00000395844.3_Silent_p.L37L	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	37					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGGACGGCTGGGAGCCGAAA	0.612000													14	95					0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37870703	37870703	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:37870703G>A	ENST00000356998.3	-	6	883	c.660C>T	c.(658-660)ttC>ttT	p.F220F	MFNG_ENST00000416983.3_Silent_p.F206F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	220					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					ATGTGTCCATGAAACGGGAGC	0.642000													5	72					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76331456	76331456	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:76331456C>G	ENST00000312916.7	+	3	786	c.404C>G	c.(403-405)tCt>tGt	p.S135C	AGGF1_ENST00000506806.1_Missense_Mutation_p.S135C|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	135					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATCGAAACTTCTATTTTGAAT	0.338000													10	46					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847215	94847215	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:94847215C>T	ENST00000448921.1	-	5	1482	c.910G>A	c.(910-912)Gac>Aac	p.D304N	SERPINA1_ENST00000393088.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.D304N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.D304N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	304					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CACCTTCTGTCTTCATTTTCC	0.537000													46	90					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9451226	9451226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:9451226G>T	ENST00000379719.3	+	15	1739	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	533					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TACAGCTAAAGAATATATCAC	0.303000													3	22					1	1	1	1	0
CD96	10225	broad.mit.edu	37	3	111316966	111316966	+	Splice_Site	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:111316966G>C	ENST00000352690.4	+	6	1047		c.e6-1		CD96_ENST00000283285.5_Splice_Site|CD96_ENST00000438817.2_Splice_Site	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule						cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTTACCCCAGAGAAGATTTA	0.323000									Opitz Trigonocephaly syndrome				51	72					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69370550	69370550	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:69370550C>T	ENST00000306875.4	-	2	557	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.R23Q|COG8_ENST00000562081.1_Missense_Mutation_p.R148Q	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	148					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TTCTGTGTGCCGGTTTAGGGT	0.478000													4	78					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870167	4870167	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:4870167C>A	ENST00000322101.2	-	1	347	c.272G>T	c.(271-273)gGc>gTc	p.G91V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGGCGATGCCCAGCAGTGT	0.552000													9	105					3.09899e-07	3.27709e-07	1	1	0
FUT3	2525	broad.mit.edu	37	19	5844676	5844676	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:5844676T>G	ENST00000303225.6	-	3	809	c.175A>C	c.(175-177)Acc>Ccc	p.T59P	FUT3_ENST00000458379.2_Missense_Mutation_p.T59P|FUT3_ENST00000589620.1_Missense_Mutation_p.T59P|FUT3_ENST00000589918.1_Missense_Mutation_p.T59P	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	59					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGGGGCGGGTGGGAGTGGTG	0.637000													6	53					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326894	142326894	+	RNA	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142326894G>T	ENST00000390393.3	+	0	400																											GGCTGAGATTGATCTACTACT	0.468000													64	161					1.85257e-25	2.03709e-25	1	1	0
ADRB2	154	broad.mit.edu	37	5	148207021	148207021	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:148207021C>T	ENST00000305988.4	+	1	866	c.627C>T	c.(625-627)taC>taT	p.Y209Y		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	209					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGTCCTTCTACGTTCCCCTGG	0.532000													4	187					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633325	106633325	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:106633325C>G	ENST00000378026.4	-	2	1422	c.1286G>C	c.(1285-1287)cGc>cCc	p.R429P		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	429						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTCGGTCTGGCGCGCAGAAGC	0.662000													7	105					0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89503153	89503153	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:89503153C>T	ENST00000361175.4	+	10	1600	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R415C|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R416C	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	411					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATTCCAGTTGCGCAATCCTGT	0.537000													36	131					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196736529	196736529	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:196736529C>T	ENST00000296350.5	-	11	1598	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	495	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGAAGCCTCTCTGAATAAGGG	0.627000													12	144					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	35					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249448	52249448	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:52249448C>T	ENST00000595042.1	-	3	941	c.800G>A	c.(799-801)aGa>aAa	p.R267K	FPR1_ENST00000304748.4_Missense_Mutation_p.R267K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	267					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CTCACGGATTCTGACTGTGGC	0.507000													15	40					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221044	47221044	+	Missense_Mutation	SNP	C	C	T	rs148136049		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:47221044C>T	ENST00000296861.2	-	4	1850	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	486	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ATCGTTTCTCCGGTGCTGGCG	0.612000													7	20					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26513909	26513909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:26513909C>T	ENST00000531191.1	+	15	1623	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	CNKSR1_ENST00000374253.5_Nonsense_Mutation_p.Q471*|CNKSR1_ENST00000361530.6_Nonsense_Mutation_p.Q464*			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	471	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGTGTTTCAGCTCACCCA	0.582000													29	113					0	0	1	0	0
FBLL1	345630	broad.mit.edu	37	5	167957251	167957251	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:167957251G>A	ENST00000338333.4	+	1	1131	c.742G>A	c.(742-744)Gac>Aac	p.D248N																								GATCTTCGCCGACGTGGCCCA	0.632000													9	42					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151331049	151331049	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:151331049A>T	ENST00000367321.3	+	21	2494	c.2220A>T	c.(2218-2220)ttA>ttT	p.L740F	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	740	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTGTGTTAGTGGCAACGG	0.507000													15	86					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832795	35832795	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:35832795G>A	ENST00000085219.5	+	9	2028	c.1962G>A	c.(1960-1962)tcG>tcA	p.S654S	CD22_ENST00000594250.1_Silent_p.S477S|CD22_ENST00000536635.2_Silent_p.S566S|CD22_ENST00000270311.6_Silent_p.S534S|CD22_ENST00000419549.2_Silent_p.S482S|CD22_ENST00000341773.6_Silent_p.S477S|CD22_ENST00000544992.2_Silent_p.S654S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	654	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCAGCACTCGGGTGCCTACT	0.587000													18	85					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20337672	20337672	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:20337672C>T	ENST00000302555.5	-	2	231	c.82G>A	c.(82-84)Gca>Aca	p.A28T	GP2_ENST00000381360.5_Missense_Mutation_p.A28T|GP2_ENST00000381362.4_Missense_Mutation_p.A28T|GP2_ENST00000341642.5_Missense_Mutation_p.A28T			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	28						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGCTGCACTGCAGATGCCTGG	0.537000													5	40					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64575070	64575070	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:64575070G>A	ENST00000337652.1	-	4	1255	c.752C>T	c.(751-753)tCc>tTc	p.S251F	MEN1_ENST00000315422.4_Missense_Mutation_p.S246F|MEN1_ENST00000377313.1_Missense_Mutation_p.S251F|MEN1_ENST00000377316.2_Missense_Mutation_p.S246F|MEN1_ENST00000377326.3_Missense_Mutation_p.S246F|MEN1_ENST00000394374.2_Missense_Mutation_p.S251F|MEN1_ENST00000394376.1_Missense_Mutation_p.S251F|MEN1_ENST00000312049.6_Missense_Mutation_p.S246F|MEN1_ENST00000377321.1_Missense_Mutation_p.S211F|MEN1_ENST00000443283.1_Missense_Mutation_p.S251F	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	251	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A242_I247del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CAGGTCAATGGAAGGGTTGAT	0.577000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				26	78					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81348783	81348783	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81348783C>G	ENST00000248272.3	+	1	227	c.65C>G	c.(64-66)tCt>tGt	p.S22C		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	22					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCGCTCAGCTCTTTCCGCGAG	0.701000													5	14					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													4	54					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59131245	59131245	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:59131245C>T	ENST00000472487.1	-	17	2129	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	697					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GGGATTATTTCGATTATAGGG	0.333000													7	65					0	0	1	0	0
UNC50	25972	broad.mit.edu	37	2	99226181	99226181	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:99226181C>G	ENST00000409975.1	+	1	1140	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	UNC50_ENST00000409347.1_Missense_Mutation_p.Q4E|UNC50_ENST00000357765.2_Intron			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	0					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AATGTTTCTTCAGAATACGTG	0.438000													5	244					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997144	173997144	+	Silent	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:173997144C>A	ENST00000457714.1	+	6	1782	c.1353C>A	c.(1351-1353)acC>acA	p.T451T	NLGN1_ENST00000361589.4_Silent_p.T451T|NLGN1_ENST00000401917.3_Silent_p.T491T|NLGN1_ENST00000545397.1_Silent_p.T451T|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	468					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACCCTGAAACCAGAAGAAAGA	0.428000													36	98					8.73648e-17	9.53071e-17	1	1	0
KIF20B	9585	broad.mit.edu	37	10	91532581	91532581	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:91532581G>A	ENST00000416354.1	+	32	5540	c.5468G>A	c.(5467-5469)gGc>gAc	p.G1823D	KIF20B_ENST00000371728.3_Missense_Mutation_p.G1793D|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.G1753D			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1793					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATATATCAGGCCAAGTGGTA	0.328000													29	118					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154239020	154239020	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:154239020G>A	ENST00000428931.1	+	25	3113	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Silent_p.S993S|UBAP2L_ENST00000361546.2_Silent_p.S982S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	982					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGATATCTCGGGTTCTGTGT	0.498000													5	362					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111656254	111656254	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:111656254A>T	ENST00000374647.5	-	26	3136	c.2829T>A	c.(2827-2829)taT>taA	p.Y943*	IKBKAP_ENST00000537196.1_Nonsense_Mutation_p.Y594*	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	943					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			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						TGGCTTTTTCATATCGTTTCA	0.333000													5	37					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40428064	40428064	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:40428064G>A	ENST00000319592.4	-	6	2141	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	RBM47_ENST00000295971.7_Missense_Mutation_p.P547S|RBM47_ENST00000381795.6_Missense_Mutation_p.P478S|RBM47_ENST00000381793.2_Missense_Mutation_p.P547S|RBM47_ENST00000514014.1_Missense_Mutation_p.P509S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	547						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCTGTAGCTGGAGCAGCAAAT	0.587000													20	61					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7710627	7710627	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7710627G>A	ENST00000572933.1	+	62	11062	c.9602G>A	c.(9601-9603)cGg>cAg	p.R3201Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3201Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3201	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGTGGGTGCGGGCCATGGAG	0.657000													4	156					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231380190	231380190	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:231380190G>C	ENST00000264052.5	+	25	2830	c.2475G>C	c.(2473-2475)ctG>ctC	p.L825L	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	825					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ctgcaaagctgaaggaaaaat	0.408000													21	26					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12785897	12785897	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:12785897G>A	ENST00000361905.4	+	3	738	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TEAD1_ENST00000334310.6_Missense_Mutation_p.E25K|TEAD1_ENST00000361985.2_Missense_Mutation_p.E40K|TEAD1_ENST00000527575.1_Missense_Mutation_p.E40K|TEAD1_ENST00000527636.1_Missense_Mutation_p.E40K	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	40					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCCCGACATCGAGCAAAGCTT	0.512000													33	80					0	0	1	0	0
GSTK1	373156	broad.mit.edu	37	7	142964718	142964718	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142964718G>A	ENST00000479303.1	+	5	655	c.597G>A	c.(595-597)gaG>gaA	p.E199E	GSTK1_ENST00000358406.5_Silent_p.E143E|GSTK1_ENST00000443571.2_Silent_p.E100E|GSTK1_ENST00000409500.3_Silent_p.E131E|AC073342.12_ENST00000427392.1_RNA	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	143						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AGGCTGCAGAGAAGGCTGGTA	0.493000													25	114					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108773716	108773716	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:108773716C>T	ENST00000232603.5	-	14	1271	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	MORC1_ENST00000483760.1_Missense_Mutation_p.V397M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	397					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTCCAACCACGCCTGCGCCA	0.308000													5	44					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104324544	104324544	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:104324544C>T	ENST00000389120.3	+	20	2858	c.2768C>T	c.(2767-2769)cCg>cTg	p.P923L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	923					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTGACCTGTCCGTGCTGTAAC	0.418000													29	62					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86333818	86333818	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:86333818C>T	ENST00000355238.6	-	7	885	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.E227K	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	227	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GAACGAATTTCATGATTATTA	0.333000													4	54					0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77096978	77096978	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:77096978C>T	ENST00000264896.2	-	6	1139	c.790G>A	c.(790-792)Gag>Aag	p.E264K	SCARB2_ENST00000452464.2_Missense_Mutation_p.E121K	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	264					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAAAGGACCTCATCTTTGGTT	0.363000													15	37					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96320874	96320874	+	Silent	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:96320874C>A	ENST00000231368.5	+	3	1643	c.951C>A	c.(949-951)atC>atA	p.I317I	LNPEP_ENST00000395770.3_Silent_p.I303I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	317					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTTTATCATCAAGATCATAA	0.373000													11	77					0.000673444	0.000688409	1	1	0
OTOF	9381	broad.mit.edu	37	2	26702488	26702488	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:26702488C>T	ENST00000272371.2	-	17	2072	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R649Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	649					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCTGGGGCCGGGACAGGCC	0.637000													18	52					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20824776	20824776	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:20824776G>A	ENST00000527915.1	+	13	1301	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	PARP2_ENST00000250416.5_Missense_Mutation_p.M432I|PARP2_ENST00000429687.3_Missense_Mutation_p.M419I			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	432	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTTCCAGGATGAGTAACTGGG	0.468000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					33	308					0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73887344	73887344	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:73887344C>T	ENST00000269383.3	-	6	1135	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	357	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGGACTGACGACAGTGCTT	0.627000													5	73					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160253595	160253595	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:160253595C>T	ENST00000334256.4	-	3	510		c.e3+1			NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CAATGACTTACCACTCTATAA	0.294000													6	30					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290741	57290741	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:57290741G>C	ENST00000543872.2	+	4	2821	c.2557G>C	c.(2557-2559)Gac>Cac	p.D853H	SMG8_ENST00000300917.5_Missense_Mutation_p.D853H|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	853					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGAATATGAAGACTCTCGAGG	0.448000													21	139					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38855809	38855809	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:38855809C>G	ENST00000264651.2	-	6	1304	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	416	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CACCCCAGATCTGGCAGATCT	0.572000													57	140					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996545	144996545	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:144996545C>T	ENST00000322810.4	-	32	8024	c.7855G>A	c.(7855-7857)Gag>Aag	p.E2619K	PLEC_ENST00000354589.3_Missense_Mutation_p.E2482K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2468K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2482K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2505K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2450K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2486K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2509K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2460K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2619	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2619*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGCTGCTCCTGCTGCACC	0.627000													14	84					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93969138	93969138	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:93969138C>T	ENST00000369303.4	-	10	2042	c.1858G>A	c.(1858-1860)Gct>Act	p.A620T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	620						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATGGACAGCTCTATTTGGG	0.438000													27	55					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127648348	127648348	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:127648348C>T	ENST00000508053.1	-	43	5831	c.4857G>A	c.(4855-4857)gaG>gaA	p.E1619E	FBN2_ENST00000262464.4_Silent_p.E1619E			P35556	FBN2_HUMAN	fibrillin 2	1619	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGGGCATGTCTCACAGGGGT	0.512000													5	371					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52248291	52248291	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:52248291G>C	ENST00000371710.3	+	17	1725	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	OSBPL9_ENST00000462759.1_Missense_Mutation_p.E319Q|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E480Q|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E507Q|OSBPL9_ENST00000435686.2_Missense_Mutation_p.E332Q|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E497Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E416Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E484Q|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E502Q|OSBPL9_ENST00000486942.1_Missense_Mutation_p.E319Q|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E387Q|OSBPL9_ENST00000531828.1_Missense_Mutation_p.E332Q	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	497					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATTTGTGGCTGAGCAGGTTTC	0.413000													8	44					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170720931	170720931	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:170720931G>A	ENST00000523189.1	+	26	3152	c.2988G>A	c.(2986-2988)cgG>cgA	p.R996R	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	996					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGACTGTCGGAACCAGTGGT	0.493000			T	TRD@	ALL								29	103					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523178	43523178	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:43523178G>C	ENST00000401740.1	-	3	556	c.453C>G	c.(451-453)atC>atG	p.I151M	PSG11_ENST00000403486.1_Missense_Mutation_p.I29M|PSG11_ENST00000320078.7_Missense_Mutation_p.I151M|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.I29M			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	151	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGCT	0.507000													84	254					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88331187	88331187	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:88331187G>A	ENST00000392844.3	+	10	1151	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	ORC3_ENST00000546266.1_Missense_Mutation_p.R225H|ORC3_ENST00000257789.4_Missense_Mutation_p.R368H|ORC3_ENST00000417380.2_Missense_Mutation_p.R315H	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	368					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AACATCCGACGTCTACCATCT	0.333000													13	33					0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111624280	111624280	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111624280G>C	ENST00000527614.1	-	9	1116	c.1051C>G	c.(1051-1053)Caa>Gaa	p.Q351E	PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.Q224E|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.Q351E|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.Q287E|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.Q190E	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	351							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTGACATGTTGATTGGTATCG	0.338000													8	28					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200811126	200811126	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:200811126A>C	ENST00000358823.2	+	7	1202	c.932A>C	c.(931-933)aAt>aCt	p.N311T	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.N322T|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.N311T	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	322	CH.					cytoplasm|microtubule	protein binding										ATATAGAGTAATTATTTGGTG	0.343000													18	55					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181976	120181976	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:120181976C>A	ENST00000328078.1	+	1	515	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	146					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCACGCCCTGCAAGGGAGGTA	0.567000													31	92					1.13719e-10	1.22126e-10	1	1	0
ALK	238	broad.mit.edu	37	2	30142880	30142880	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:30142880G>C	ENST00000389048.3	-	1	1552	c.646C>G	c.(646-648)Ctc>Gtc	p.L216V	ALK_ENST00000431873.1_Missense_Mutation_p.L216V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	216					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ATCTGGAAGAGAAGGCGGGGC	0.562000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	55					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054480	64054480	+	Missense_Mutation	SNP	G	G	A	rs138261831	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:64054480G>A	ENST00000539851.1	+	3	868	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	GPR137_ENST00000313074.3_Missense_Mutation_p.R134Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R134Q|GPR137_ENST00000411458.1_Missense_Mutation_p.R192Q|GPR137_ENST00000438980.2_Missense_Mutation_p.R134Q	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	134						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GAGATGAGCCGAGGCTTGTAA	0.612000													4	26					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			9	42					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671750	39671750	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr21:39671750G>C	ENST00000398930.1	+	4	921	c.567G>C	c.(565-567)caG>caC	p.Q189H	KCNJ15_ENST00000398932.1_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Q189H|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398938.2_Missense_Mutation_p.Q189H			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	189					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCACCAAGCAGAATGGGAAGC	0.527000													13	61					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118942470	118942470	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:118942470C>T	ENST00000300793.6	+	6	840	c.798C>T	c.(796-798)ttC>ttT	p.F266F	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	267					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGCCCTGCTTCGCCTTTGAGG	0.542000													13	91					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42573562	42573562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:42573562G>T	ENST00000372901.1	+	6	1024	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	UBR2_ENST00000372903.2_Nonsense_Mutation_p.E256*|UBR2_ENST00000372899.1_Nonsense_Mutation_p.E256*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	256					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACACAAAAAGAAGCTATTGG	0.318000													14	49					6.72482e-11	7.2502e-11	1	1	0
PIH1D2	120379	broad.mit.edu	37	11	111942456	111942456	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111942456G>C	ENST00000530641.1	-	3	529	c.204C>G	c.(202-204)atC>atG	p.I68M	PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000431456.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000280350.4_Missense_Mutation_p.I68M			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	68										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GACACAGGTTGATAAAAAGTA	0.418000													13	31					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79781930	79781930	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:79781930G>A	ENST00000372371.3	-	6	995	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	286					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTAGGAAAATGATTTCTGTCA	0.388000													20	49					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43522835	43522835	+	Splice_Site	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:43522835C>A	ENST00000430334.3	-	9	2971		c.e9+1		PLEKHM1_ENST00000580404.1_Splice_Site|PLEKHM1_ENST00000421073.2_Splice_Site	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1						intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGGTTGCTCACCTCTTGCTGA	0.552000													6	51					0.0381472	0.0384257	1	1	0
ABCA4	24	broad.mit.edu	37	1	94496668	94496668	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:94496668G>C	ENST00000370225.3	-	28	4223	c.4137C>G	c.(4135-4137)ctC>ctG	p.L1379L		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1379					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGTAGCCGGGAGCACGATCT	0.473000													5	37					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294657	77294657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:77294657C>T	ENST00000393774.3	+	2	236	c.112C>T	c.(112-114)Cga>Tga	p.R38*	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Nonsense_Mutation_p.R21*	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	38										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TGAGCCAGTACGACAGAGCAG	0.502000													21	51					0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64083475	64083475	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:64083475C>G	ENST00000337130.5	+	2	531	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Missense_Mutation_p.Q8E|UGP2_ENST00000445915.2_Missense_Mutation_p.Q28E|UGP2_ENST00000394417.2_Missense_Mutation_p.Q8E	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	19					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TGGTGCTTCTCAGTTCCAAGA	0.393000													40	181					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129519308	129519308	+	Silent	SNP	A	A	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:129519308A>G	ENST00000276218.2	-	1	203	c.114T>C	c.(112-114)ggT>ggC	p.G38G		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	38						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAGACTGACACCATCATTCT	0.532000													111	290					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7842900	7842900	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7842900G>C	ENST00000380262.3	+	8	1922	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	CNTROB_ENST00000380255.3_Missense_Mutation_p.E333Q|CNTROB_ENST00000563694.1_Missense_Mutation_p.E333Q|CNTROB_ENST00000565740.1_Missense_Mutation_p.E333Q	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	333					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCTGCAGGAAGAGCGGGATGC	0.582000													42	104					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572000													4	95					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189489	59189489	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:59189489G>C	ENST00000302040.4	-	1	960	c.938C>G	c.(937-939)tCt>tGt	p.S313C		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCCACCGTGAGAAATCCCGGG	0.418000													29	108					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16496215	16496215	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:16496215G>C	ENST00000354981.2	-	4	483	c.326C>G	c.(325-327)tCa>tGa	p.S109*	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.S109*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.S109*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	109	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CATAGTGTATGACTTTCCAGA	0.383000													18	57					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042739	75042739	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:75042739G>A	ENST00000343932.4	+	2	723	c.660G>A	c.(658-660)gtG>gtA	p.V220V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	220					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCAGCCTCGTGAAGAACACTC	0.567000													60	160					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089632	10089632	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:10089632C>T	ENST00000287647.3	+	16	1403	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FANCD2_ENST00000419585.1_Missense_Mutation_p.S437L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S437L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S437L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	437					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCCATTCTGTCGCTGGCTCAG	0.408000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	182					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553701	19553701	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:19553701G>T	ENST00000409832.3	+	1	337	c.285G>T	c.(283-285)agG>agT	p.R95S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	95										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACACTCAGGAGCAAGATGG	0.617000													77	922					3.40343e-31	3.75738e-31	1	1	0
MYH9	4627	broad.mit.edu	37	22	36708154	36708154	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:36708154G>A	ENST00000216181.5	-	14	1898	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	556	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCTTCTGGAACTTGGGGT	0.587000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				15	137					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810576	7810576	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:7810576G>C	ENST00000315599.7	-	4	598	c.576C>G	c.(574-576)atC>atG	p.I192M	CD209_ENST00000602261.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.I168M|CD209_ENST00000593660.1_Missense_Mutation_p.I168M|CD209_ENST00000354397.6_Missense_Mutation_p.I192M|CD209_ENST00000204801.8_Missense_Mutation_p.I148M|CD209_ENST00000315591.8_Missense_Mutation_p.I168M|CD209_ENST00000301357.8_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.I168M|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	192	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTCCTGGTAGATCTCCTGCT	0.552000													5	178					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27527838	27527838	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:27527838C>T	ENST00000296098.4	+	5	921	c.651C>T	c.(649-651)agC>agT	p.S217S	TRIM54_ENST00000380075.2_Silent_p.S175S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	175					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGCTCAGCGATGGCATCG	0.607000													12	37					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81348778	81348778	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81348778C>T	ENST00000248272.3	+	1	222	c.60C>T	c.(58-60)ctC>ctT	p.L20L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	20					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGCGAGCGCTCAGCTCTTTCC	0.706000													5	15					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33637755	33637755	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:33637755C>T	ENST00000504830.1	-	12	2150	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.Q605Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	605	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCACTGCATCTGCCGAAATG	0.478000										HNSCC(64;0.19)			13	122					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83724252	83724252	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:83724252G>T	ENST00000297977.5	-	3	590	c.479C>A	c.(478-480)gCa>gAa	p.A160E	HDX_ENST00000373177.2_Missense_Mutation_p.A160E|HDX_ENST00000506585.2_Missense_Mutation_p.A102E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTACAGTGTGCTACTTGTCT	0.368000													24	89					3.83957e-06	4.0141e-06	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													4	56					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23829039	23829039	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829039G>C	ENST00000216733.3	-	4	1255	c.648C>G	c.(646-648)atC>atG	p.I216M	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.I123M	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	216	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGCAGCATAGATGGGGGGCC	0.612000													41	120					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49208987	49208987	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:49208987G>A	ENST00000327979.2	-	19	2870	c.2459C>T	c.(2458-2460)aCc>aTc	p.T820I	FAM65C_ENST00000045083.2_Missense_Mutation_p.T820I|FAM65C_ENST00000535356.1_Missense_Mutation_p.T824I			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	820										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTCTTAAGGTCTGGGGCAG	0.667000													11	39					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247687	164247687	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:164247687G>A	ENST00000296533.2	-	2	551	c.20C>T	c.(19-21)tCc>tTc	p.S7F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	7					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCAACCTGGGAAAATAATGT	0.358000													17	35					0	0	1	0	0
PAGE2B	389860	broad.mit.edu	37	X	55102484	55102484	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:55102484C>A	ENST00000374971.1	+	2	62	c.10C>A	c.(10-12)Cat>Aat	p.H4N	PAGE2B_ENST00000374974.3_Missense_Mutation_p.H4N	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	4										lung(3)	3						TATGAGTGAGCATGTGAGAAC	0.363000													5	48					0.014758	0.014975	1	1	0
SLC6A12	6539	broad.mit.edu	37	12	319191	319191	+	Translation_Start_Site	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:319191G>T	ENST00000428720.1	-	0	705				SLC6A12_ENST00000397296.2_De_novo_Start_InFrame|SLC6A12_ENST00000359674.4_De_novo_Start_InFrame|SLC6A12_ENST00000536824.1_De_novo_Start_InFrame|SLC6A12_ENST00000424061.2_De_novo_Start_InFrame	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12						cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGGTGGGCAGGATGACGAGG	0.622000													11	25					3.86212e-05	3.9923e-05	1	1	0
ASTE1	28990	broad.mit.edu	37	3	130743861	130743861	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:130743861C>G	ENST00000264992.3	-	3	731	c.290G>C	c.(289-291)aGa>aCa	p.R97T	ASTE1_ENST00000514044.1_Missense_Mutation_p.R97T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	97					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GATCTTCTCTCTAGCTCTATC	0.403000													11	48					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382160	51382160	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51382160C>T	ENST00000216392.7	-	11	1629	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	PYGL_ENST00000544180.2_Missense_Mutation_p.E399K|PYGL_ENST00000532462.1_Missense_Mutation_p.E433K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	433					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCTTCCTCTTCTATCAGAGAC	0.478000													49	92					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526543	16526543	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:16526543C>G	ENST00000311331.7	-	6	1748	c.1657G>C	c.(1657-1659)Gag>Cag	p.E553Q		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAAGGTTTCTCTCCTGTATGC	0.368000													13	78					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371155	48371155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:48371155C>A	ENST00000395702.2	+	2	850	c.623C>A	c.(622-624)tCa>tAa	p.S208*	ZNF488_ENST00000586537.1_Nonsense_Mutation_p.S101*|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GGTCGACTTTCAACTCCCAAG	0.537000													19	108					5.35267e-07	5.63869e-07	1	1	0
SLC34A2	10568	broad.mit.edu	37	4	25677805	25677805	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:25677805T>C	ENST00000382051.3	+	13	1557	c.1507T>C	c.(1507-1509)Tac>Cac	p.Y503H	SLC34A2_ENST00000503434.1_Missense_Mutation_p.Y502H|SLC34A2_ENST00000504570.1_Missense_Mutation_p.Y502H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	503					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTGCTGTGGTACCCGATCCC	0.577000			T	ROS1	NSCLC								12	64					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47017915	47017915	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:47017915C>T	ENST00000584895.1	-	1	41	c.27G>A	c.(25-27)gaG>gaA	p.E9E	RPL17_ENST00000580210.1_Intron|MIR1539_ENST00000581232.1_RNA|RPL17-C18orf32_ENST00000332968.6_5'UTR|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000579408.1_Silent_p.E9E|RPL17_ENST00000581373.1_5'UTR|RPL17_ENST00000418495.1_Silent_p.E9E|RPL17_ENST00000580261.1_Silent_p.E9E|RPL17_ENST00000579248.1_Silent_p.E9E	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					TCGTGGGGTTCTCCGGGTCAA	0.393000													22	95					0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075256	226075256	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:226075256G>A	ENST00000272134.5	-	3	659	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.P302L	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	194					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					AGCGGCTGCCGGGGCCGGCTC	0.692000													18	37					0	0	1	0	0
MAF1	84232	broad.mit.edu	37	8	145160607	145160607	+	Silent	SNP	G	G	A	rs17852938		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145160607G>A	ENST00000534585.1	+	2	412	c.21G>A	c.(19-21)tcG>tcA	p.S7S	MAF1_ENST00000322428.5_Silent_p.S7S|MAF1_ENST00000532522.1_Silent_p.S7S			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	7					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGAGAACTCGAGCTTTGAAG	0.562000													17	101					0	0	1	0	0
AKIP1	56672	broad.mit.edu	37	11	8933201	8933201	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:8933201C>T	ENST00000529876.1	+	1	466	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	AKIP1_ENST00000299576.5_Missense_Mutation_p.R69C|AKIP1_ENST00000309357.4_Missense_Mutation_p.R69C|AKIP1_ENST00000534147.1_Missense_Mutation_p.R69C|AKIP1_ENST00000396648.2_Missense_Mutation_p.R69C|AKIP1_ENST00000525005.1_Missense_Mutation_p.R69C|AKIP1_ENST00000534506.1_Missense_Mutation_p.R69C|AKIP1_ENST00000309377.4_Missense_Mutation_p.R69C			Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	69						nucleus	protein binding			kidney(1)|large_intestine(2)|lung(2)	5						CGGCCCGCAGCGCGTTCTCCC	0.741000													3	10					0	0	1	0	0
DERL2	51009	broad.mit.edu	37	17	5383811	5383811	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:5383811C>T	ENST00000158771.4	-	5	474	c.419G>A	c.(418-420)cGc>cAc	p.R140H	DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	140					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						GAAGTTCATGCGGACATAGGG	0.493000													5	183					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102005556	102005556	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:102005556G>A	ENST00000354105.4	-	9	1050	c.964_splice	c.e9+1	p.P322_splice	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Splice_Site_p.P77_splice	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	322							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AGGTACTTACGAGGTTTGCGA	0.418000													7	64					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163138103	163138103	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:163138103C>G	ENST00000313961.5	-	2	377	c.100G>C	c.(100-102)Ggt>Cgt	p.G34R	RGS5_ENST00000527988.1_Intron|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000367903.3_Missense_Mutation_p.G54R|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.G34R	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	34					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			ACAAGGTCACCAACTGAGTCT	0.478000													11	134					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90610895	90610895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:90610895C>T	ENST00000268154.4	+	2	777	c.526C>T	c.(526-528)Cga>Tga	p.R176*		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	176	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCATCTGCCCCGAACCCCGAG	0.721000													3	37					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382669	51382669	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51382669C>T	ENST00000216392.7	-	10	1445	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	PYGL_ENST00000544180.2_Silent_p.K337K|PYGL_ENST00000532462.1_Silent_p.K371K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	371					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGGCGAAGGTCTTCTGGGTGA	0.607000													25	62					0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145730447	145730447	+	Missense_Mutation	SNP	G	G	A	rs146211713	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145730447G>A	ENST00000394955.2	+	4	651	c.428G>A	c.(427-429)cGt>cAt	p.R143H	GPT_ENST00000528431.1_Missense_Mutation_p.R143H	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	143					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTGAGAGGCGTGACGGAGGC	0.637000													20	88					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70486522	70486522	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:70486522C>T	ENST00000433351.2	+	2	171	c.143C>T	c.(142-144)tCa>tTa	p.S48L	PCYOX1_ENST00000264441.5_Missense_Mutation_p.S48L|PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000545138.1_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	48					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGTGGCACTTCAGCAGCCTAT	0.453000													105	250					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75705314	75705314	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:75705314G>C	ENST00000394947.3	-	5	860	c.546C>G	c.(544-546)ttC>ttG	p.F182L	SIN3A_ENST00000394949.4_Missense_Mutation_p.F182L|SIN3A_ENST00000360439.4_Missense_Mutation_p.F182L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	182	Interaction with HCFC1.|PAH 1.			FNTFLPPGYKI -> IQHLFAPWATKM (in Ref. 4; AAK95854).	blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGAAGGTGTTGAATCCCATTA	0.468000													12	64					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029889	150029889	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:150029889C>G	ENST00000394243.1	+	3	3158	c.2784C>G	c.(2782-2784)ttC>ttG	p.F928L	SYNPO_ENST00000522122.1_Missense_Mutation_p.F928L|SYNPO_ENST00000519664.1_Missense_Mutation_p.F684L|SYNPO_ENST00000307662.4_Intron	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	928					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTCTGCTTCAAGTAACGAA	0.632000													7	40					0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7985294	7985294	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:7985294C>G	ENST00000221573.6	+	1	94	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V		NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	15					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGCGCGCTATCTGGGCGAGGT	0.721000													3	16					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19963263	19963263	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:19963263T>C	ENST00000263207.3	-	11	2197	c.1906A>G	c.(1906-1908)Atg>Gtg	p.M636V	ARVCF_ENST00000406259.1_Missense_Mutation_p.M630V|ARVCF_ENST00000406522.1_Missense_Mutation_p.M567V|ARVCF_ENST00000344269.3_Missense_Mutation_p.M573V|ARVCF_ENST00000401994.1_Missense_Mutation_p.M573V	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	636					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TTCCGGTCCATCTCACCATCC	0.577000													7	31					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40534570	40534570	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:40534570C>T	ENST00000324817.1	-	22	3042	c.2924G>A	c.(2923-2925)aGa>aAa	p.R975K	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	975					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACAGACCTTCTTCGAGCATC	0.388000													10	37					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124029892	124029892	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:124029892C>T	ENST00000422452.2	-	2	479	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TENM1_ENST00000371130.3_Missense_Mutation_p.R139Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGAGTTGGCCCGGCTGGACAA	0.438000													68	194					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399804	10399804	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:10399804C>T	ENST00000226207.5	-	34	4813	c.4719G>A	c.(4717-4719)aaG>aaA	p.K1573K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1573						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAACCTCAGACTTGACTTGGT	0.433000													30	94					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12557583	12557583	+	Translation_Start_Site	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:12557583G>A	ENST00000471923.1	+	0	340				VPS13D_ENST00000356315.4_Missense_Mutation_p.R4206H|VPS13D_ENST00000543766.1_Missense_Mutation_p.R229H|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000358136.3_Missense_Mutation_p.R4231H|VPS13D_ENST00000543710.1_Missense_Mutation_p.R35H			Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization			p.R4231L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGGAAACCGCGTTGCTGCACG	0.507000													8	57					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185208	130185208	+	Silent	SNP	T	T	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:130185208T>G	ENST00000422113.2	-	2	441	c.115A>C	c.(115-117)Agg>Cgg	p.R39R		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	39						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGAAAACCTCTGGATGCTC	0.542000													9	44					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33600794	33600794	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:33600794C>G	ENST00000170564.2	+	11	1771	c.1457C>G	c.(1456-1458)tCt>tGt	p.S486C		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	486						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGGCACTGCTCTTGGAACATG	0.572000													6	78					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51117268	51117268	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:51117268G>A	ENST00000414786.2	+	5	747	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	SHANK3_ENST00000262795.3_Missense_Mutation_p.A174T|SHANK3_ENST00000445220.2_Missense_Mutation_p.A174T			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	174										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GAATGGTGGTGCCCACCTGGA	0.647000													4	21					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110737359	110737359	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:110737359C>T	ENST00000331565.4	+	9	1943	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	486					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CGCCCATCATCGACACCTTCA	0.587000													13	51					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	35					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771685	99771685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:99771685C>T	ENST00000370185.3	+	7	1908	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	LPPR4_ENST00000370184.1_Nonsense_Mutation_p.Q313*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.Q413*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		471							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGAGCCTGGGCAGTCACCACC	0.498000													25	111					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	86					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17212828	17212828	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:17212828C>G	ENST00000595618.1	+	2	453	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	MYO9B_ENST00000397274.2_Missense_Mutation_p.Q101E|MYO9B_ENST00000594824.1_Missense_Mutation_p.Q101E	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	101	Myosin head-like.|Ras-associating.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGAGCACCCTCAGGAGGATGG	0.647000													21	45					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23829056	23829056	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829056C>T	ENST00000216733.3	-	4	1238	c.631G>A	c.(631-633)Gag>Aag	p.E211K	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.E118K	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	211	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCCCCGGCTCCCGGCCTCCT	0.617000													38	114					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10704772	10704772	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:10704772G>C	ENST00000379568.3	+	6	820	c.529G>C	c.(529-531)Gag>Cag	p.E177Q		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	177					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				CCCAAGAGGAGAGCAGTATGT	0.323000													6	8					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190874243	190874243	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:190874243C>A	ENST00000226798.4	+	4	502	c.280C>A	c.(280-282)Cca>Aca	p.P94T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	94					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CCCTAGTCCTCCAGAGCAGTT	0.279000													3	26					6.4e-05	6.59104e-05	1	1	0
CDH3	1001	broad.mit.edu	37	16	68732246	68732246	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:68732246G>C	ENST00000264012.4	+	16	2977	c.2433G>C	c.(2431-2433)gaG>gaC	p.E811D	CDH3_ENST00000581171.1_Missense_Mutation_p.E756D|CDH3_ENST00000429102.2_3'UTR	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	811					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ATCTGAACGAGTGGGGCAGCC	0.632000													26	201					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40703751	40703751	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:40703751C>T	ENST00000372771.4	+	8	3404	c.3377C>T	c.(3376-3378)cCg>cTg	p.P1126L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1126					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCGGCTAAGCCGTTTTTCTGT	0.373000													47	86					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487557	51487557	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:51487557G>A	ENST00000340438.4	+	1	1077	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	279					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TTTTGAAACAGAAAGGAAACA	0.438000													23	150					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903955	70903955	+	Silent	SNP	G	G	A	rs148402316	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:70903955G>A	ENST00000264436.3	-	13	2010	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	ADD2_ENST00000355733.3_Silent_p.S522S|ADD2_ENST00000407644.2_Silent_p.S522S|ADD2_ENST00000430656.1_Silent_p.S538S|ADD2_ENST00000413157.2_Silent_p.S522S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	522					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGGCAATGACGCTCGCCAGGA	0.602000													26	63					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719060	13719060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:13719060G>A	ENST00000265104.4	-	72	12534	c.12430C>T	c.(12430-12432)Cag>Tag	p.Q4144*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4144	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGGACATCTGAAGGAGTGTA	0.468000									Kartagener syndrome				38	81					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131646669	131646669	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:131646669T>C	ENST00000368648.3	-	11	1160	c.1088A>G	c.(1087-1089)gAa>gGa	p.E363G	EBF3_ENST00000355311.5_Missense_Mutation_p.E372G	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	372					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGTAACCTTTCGGGATCACC	0.537000													4	157					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436091	56436091	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:56436091G>C	ENST00000327381.5	+	3	1358	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	420						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGTCCACTGTGAGACAGAATT	0.473000													26	220					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231379821	231379821	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:231379821G>C	ENST00000264052.5	+	25	2461	c.2106G>C	c.(2104-2106)aaG>aaC	p.K702N	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	702					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGCATAAGAAGAAGAACC	0.368000													26	39					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183858347	183858347	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:183858347G>A	ENST00000273783.3	+	7	1107	c.985G>A	c.(985-987)Gac>Aac	p.D329N	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D329N	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	329					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAACTTCACTGACAGCACCAC	0.577000													29	263					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112337274	112337274	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:112337274G>C	ENST00000389063.2	+	7	907	c.709G>C	c.(709-711)Gac>Cac	p.D237H	DCP2_ENST00000515408.1_Missense_Mutation_p.D237H|DCP2_ENST00000543319.1_Missense_Mutation_p.D26H	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ACCATTAAGGGACTGGCTTTC	0.403000													32	216					0	0	1	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860654	27860654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:27860654C>A	ENST00000359611.2	-	1	309	c.274G>T	c.(274-276)Gag>Tag	p.E92*	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	92					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TTGAGCTCCTCGTCGTTGCGG	0.597000													14	268					4.93089e-13	5.35798e-13	1	1	0
HGFAC	3083	broad.mit.edu	37	4	3446393	3446393	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:3446393G>C	ENST00000382774.3	+	7	889	c.774G>C	c.(772-774)ctG>ctC	p.L258L	HGFAC_ENST00000511533.1_Silent_p.L258L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	258	EGF-like 2.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGCCACCTGATCGTGGCCA	0.721000													4	9					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103461562	103461562	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:103461562C>T	ENST00000358392.2	-	27	2631	c.2314G>A	c.(2314-2316)Ggc>Agc	p.G772S	COL11A1_ENST00000370096.3_Missense_Mutation_p.G760S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G644S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G721S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	760	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCCGGGGGCCCGGGTATCCA	0.368000													15	68					0	0	1	0	0
SETD6	79918	broad.mit.edu	37	16	58552696	58552696	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:58552696G>T	ENST00000394266.4	+	9	1034	c.978G>T	c.(976-978)agG>agT	p.R326S	SETD6_ENST00000219315.4_Missense_Mutation_p.R395S|SETD6_ENST00000310682.2_Missense_Mutation_p.R371S			Q8TBK2	SETD6_HUMAN	SET domain containing 6	395					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						ATGATAAAAGGGAAGAGGGCA	0.473000													18	51					3.41278e-10	3.65088e-10	1	1	0
WLS	79971	broad.mit.edu	37	1	68620827	68620827	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:68620827C>T	ENST00000262348.4	-	4	874	c.621G>A	c.(619-621)aaG>aaA	p.K207K	WLS_ENST00000354777.2_Silent_p.K205K|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Silent_p.K207K|WLS_ENST00000370976.3_Silent_p.K116K|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	207	Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CATTGATTTTCTTCTTCTCAT	0.423000													36	123					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55513641	55513641	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:55513641C>T	ENST00000500968.3	-	2	1814	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	578					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAGTAGACTCCTGGTAGCTT	0.433000													13	36					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128002577	128002577	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:128002577C>G	ENST00000324460.6	-	3	569	c.366G>C	c.(364-366)aaG>aaC	p.K122N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	122					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GTTTAGTTTTCTTTTCAACCA	0.338000										Prostate(1;0.17)			6	36					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52565209	52565209	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:52565209G>A	ENST00000394815.2	-	9	1429	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	444	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ACTCCTGCGAGAAGTACTTCT	0.572000													27	70					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47721085	47721085	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:47721085C>G	ENST00000525123.1	-	8	892	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	AGBL2_ENST00000357610.3_Missense_Mutation_p.E203Q|AGBL2_ENST00000298861.4_Missense_Mutation_p.E203Q|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.E165Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	203					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TAGAAATATTCTGGTTGAGGT	0.313000													5	64					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73572952	73572952	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:73572952G>C	ENST00000261973.7	+	12	1711	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	RBM25_ENST00000527432.1_Missense_Mutation_p.E476Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	476	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CCGGGAATATGAGAAAGAAGC	0.299000													5	40					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76905771	76905771	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:76905771G>A	ENST00000380887.2	+	2	147	c.75G>A	c.(73-75)tcG>tcA	p.S25S	ESRRB_ENST00000261532.7_Silent_p.S25S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Silent_p.S25S|ESRRB_ENST00000556177.1_Silent_p.S25S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	25						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCCCGTCCTCGGGCATCGATG	0.672000													4	137					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425798	143425798	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:143425798C>T	ENST00000524325.1	-	4	449	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TSNARE1_ENST00000520166.1_Missense_Mutation_p.E92K|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000307180.3_Missense_Mutation_p.E92K			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	92					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAGGTGGGCTCCGGCATCCGG	0.692000													5	11					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16536088	16536088	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:16536088C>T	ENST00000602009.1	-	3	1031	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	EPS15L1_ENST00000248070.6_Missense_Mutation_p.V200M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V200M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V200M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.V200M|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V200M			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	200	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCGGAGGGCACGGGCTCCTTC	0.652000													3	19					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150752371	150752371	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:150752371G>A	ENST00000485972.1	-	8	1254	c.573C>T	c.(571-573)atC>atT	p.I191I	CDK5_ENST00000297518.4_Silent_p.I159I	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	191	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CACCTGCAAAGATGCAGCCGG	0.592000													15	46					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51381517	51381517	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51381517C>T	ENST00000216392.7	-	12	1752	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PYGL_ENST00000544180.2_Missense_Mutation_p.E440K|PYGL_ENST00000532462.1_Missense_Mutation_p.E474K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	474					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTTCTAGCTCACTGAAGTCC	0.483000													24	60					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11536006	11536006	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:11536006G>C	ENST00000262442.3	+	8	1689	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E541Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	541	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTGGCTTGGAGCATGCCTT	0.463000													8	111					0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62577836	62577836	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:62577836C>T	ENST00000369908.5	-	2	528	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	UCKL1_ENST00000354216.6_Missense_Mutation_p.G92S|UCKL1_ENST00000358711.3_Missense_Mutation_p.G92S|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.G92S	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	92					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GATTGCGTGCCGTGTTCATTG	0.667000													7	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075892	9075892	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:9075892T>C	ENST00000397910.4	-	3	11757	c.11554A>G	c.(11554-11556)Aga>Gga	p.R3852G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCCTTGTCTCTGAAAAGTT	0.493000													17	58					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212747	26212747	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:26212747T>C	ENST00000379034.1	+	2	933	c.784T>C	c.(784-786)Tac>Cac	p.Y262H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	262	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGGCGAGTCCTACACCCTTGT	0.527000													4	138					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595173	44595173	+	Missense_Mutation	SNP	C	C	T	rs144146386		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:44595173C>T	ENST00000372299.3	+	2	288	c.230C>T	c.(229-231)gCg>gTg	p.A77V	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	77					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCTGTTGAGGCGCCGGGGCAG	0.587000													25	64					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729928	62729928	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:62729928G>T	ENST00000349451.3	+	6	1301	c.889G>T	c.(889-891)Gcc>Tcc	p.A297S	OPRL1_ENST00000336866.2_Missense_Mutation_p.A297S|OPRL1_ENST00000355631.4_Missense_Mutation_p.A297S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	297					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CAGCGAGACTGCCGTGGCCAT	0.632000													23	58					3.62473e-10	3.86265e-10	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12328839	12328839	+	Silent	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:12328839C>G	ENST00000358136.3	+	16	2008	c.1878C>G	c.(1876-1878)ctC>ctG	p.L626L	VPS13D_ENST00000356315.4_Silent_p.L626L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	626					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGGCGGCTCAATGTCAGCA	0.458000													17	204					0	0	1	0	0
MB21D1	115004	broad.mit.edu	37	6	74161325	74161325	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:74161325G>A	ENST00000370315.3	-	1	674	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	MB21D1_ENST00000370318.1_Silent_p.L194L	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	194										central_nervous_system(1)|large_intestine(4)|lung(1)	6						AGTCTGAGCAGCAGGTGGTCC	0.627000													21	37					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234601679	234601679	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:234601679G>T	ENST00000305139.6	+	1	168	c.29G>T	c.(28-30)aGa>aTa	p.R10I	UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TCATTTCAGAGAATTTCTGCA	0.473000													5	60					0.184627	0.185299	1	1	0
GLP2R	9340	broad.mit.edu	37	17	9774114	9774114	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:9774114C>T	ENST00000262441.5	+	10	1620	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	GLP2R_ENST00000574745.1_Silent_p.L189L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	369					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTCTAAGCTCAAAGCTCATC	0.398000													9	187					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51581333	51581333	+	Silent	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:51581333T>C	ENST00000452682.1	+	6	735	c.483T>C	c.(481-483)atT>atC	p.I161I	NCOA4_ENST00000438493.1_Silent_p.I161I|NCOA4_ENST00000443446.1_Silent_p.I145I|NCOA4_ENST00000374087.4_Silent_p.I145I|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000374082.1_Silent_p.I145I|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Silent_p.I145I|NCOA4_ENST00000430396.2_Silent_p.I45I	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	145					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTGACACAATTACTCTGCGCC	0.438000			T	RET	papillary thyroid								3	50					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21758086	21758086	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:21758086C>T	ENST00000319481.3	-	21	2190	c.1984G>A	c.(1984-1986)Gga>Aga	p.G662R	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.G280R|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.G149R	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	662					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTGTTTAATCCTTCAGCATGA	0.398000													6	63					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87552514	87552514	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:87552514G>A	ENST00000521271.1	+	8	747	c.585G>A	c.(583-585)aaG>aaA	p.K195K	CPNE3_ENST00000198765.4_Silent_p.K195K	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	195	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGCCTTTCAAGATCTCTCTTA	0.308000													9	100					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217409	183217409	+	Silent	SNP	G	G	A	rs149326068		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:183217409G>A	ENST00000341319.3	-	4	1151	c.1116C>T	c.(1114-1116)tgC>tgT	p.C372C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	372										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAATGTCACGCATGCAAACT	0.532000													23	198					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316773	45316773	+	Missense_Mutation	SNP	G	G	A	rs138320602		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:45316773G>A	ENST00000391955.1	+	6	724	c.680G>A	c.(679-681)cGc>cAc	p.R227H	BCAM_ENST00000270233.6_Missense_Mutation_p.R227H			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	227	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTGCGGCTCCGCAAGGATGAC	0.706000													4	127					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540420	187540426	+	Frame_Shift_Del	DEL	AATGACA	AATGACA	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:187540420_187540426delAATGACA	ENST00000441802.2	-	10	7523_7529	c.7314_7320delTGTCATT	c.(7312-7320)ttfs	p.FVI2438fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2438	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCACTGTCAATGACAAAATGTTTAT	0.435										HNSCC(5;0.00058)			35	73	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	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													2	4	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:65226569delT	ENST00000442266.1	+	0	1167																											gcccggccCCttttttttttt	0.413													3	5	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													2	4	---	---	---	---					
GAS2L1P2	340508	broad.mit.edu	37	9	99838904	99838904	+	RNA	DEL	G	G	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:99838904delG	ENST00000442849.2	-	0	1310					NR_002942.1																						ACAGCCTTATGGGTCCCGGCA	0.612													7	4	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139402533	139402546	+	Frame_Shift_Del	DEL	CGTGTTGCCCGCGT	CGTGTTGCCCGCGT	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:139402533_139402546delCGTGTTGCCCGCGT	ENST00000277541.6	-	21	3446_3459	c.3371_3384delACGCGGGCAACACG	c.(3370-3384)gfs	p.DAGNT1124fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1124	EGF-like 29.				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			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)		GGCAGTGGTGCGTGTTGCCCGCGTCCACACAGAG	0.673			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			21	43	---	---	---	---					
TBC1D12	23232	broad.mit.edu	37	10	96162517	96162534	+	In_Frame_Del	DEL	GGAGGAGGCTGACGAGGA	GGAGGAGGCTGACGAGGA	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:96162517_96162534delGGAGGAGGCTGACGAGGA	ENST00000225235.4	+	1	257_274	c.147_164delGGAGGAGGCTGACGAGGA	c.(145-165)ccg>cc	p.PEEADEE49del		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	49						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TGGAGCCGCCggaggaggctgacgaggaggaggaggct	0.720													2	4	---	---	---	---					
LILRB1	10859	broad.mit.edu	37	19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-	rs12462774	by1000genomes	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)cacafs	p.HA92fs	LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	92	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)			8	156	---	---	---	---					
AP000282.2	0	broad.mit.edu	37	21	34396032	34396032	+	RNA	DEL	G	G	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr21:34396032delG	ENST00000420356.1	-	0	201				AP000282.2_ENST00000454622.1_RNA																							AGACACCAGTGGGCAGCAACA	0.632													2	4	---	---	---	---