Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASCC3_chr6_100503194_100886329	100608451	A A	ATATATAT others(88): Show ATATATATACCTTATATATATATTTTATATATATATACTTTATATATATA TTTTATATATATATACTTTATATATATATTTTATATATATATACTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0071 a0002c0003t0002g0071	1	314	0.0032	95	c.478 others(114): Show c.4786-1364_4786-1363insAAGTATATATATATAAAATATATATA TAAAGTATATATATATAAAATATATATATAAAGTATATATATATAAAATA TATATATAAGGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ATL2_chr2_38288954_38382273	38334902	T T	TTTATAAT others(88): Show TTTATAATATATAATATATATTATTTATAATATATAATATATATTATTTA TAATATATAATATATATTATTTATAATATATAAATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18906.hp2 HG02145.hp1 NA18906.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0027 a0003c0005t0003g0028 a0003c0005t0003g0027 a0003c0005t0003g0028	2	236	0.0085	95	c.363 others(112): Show c.363+8365_363+8366insTATATAAATATATTTATATATTATAAAT AATATATATTATATATTATAAATAATATATATTATATATTATAAATAATA TATATTATATATTATAA	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(88): Show AATATATGTTGTATATACGTATATACATATATATGTTGTATATACGTATA TACATATATAAATATATGTTGTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0025 a0025	a0025c0032 a0025c0032	a0025c0032t0011 a0025c0032t0011	a0025c0032t0011g0036 a0025c0032t0011g0036	1	236	0.0042	95	c.676 others(112): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATATATGTATATACGTATATACAACATATATATGTATATAC GTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160654045	T T	TATAAATA others(88): Show TATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTA TATACGTATATACATATATAAATATATGTTGTATATACGTATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA20129.hp2 HG02559.hp1 NA20129.hp2	a0002 a0016 a0002 a0016	a0002c0013 a0016c0030 a0002c0013 a0016c0030	a0002c0013t0042 a0016c0030t0030 a0002c0013t0042 a0016c0030t0030	a0002c0013t0042g0179 a0016c0030t0030g0217 a0002c0013t0042g0179 a0016c0030t0030g0217	2	236	0.0085	95	c.676 others(112): Show c.676-4790_676-4789insGTATATACGTATATACAACATATATTTA TATATGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACAACATATATTTAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112787341	T T	TCACACCA others(88): Show TCACACCAAGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCC ACACCGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02622.hp1 others(13): Show HG01109.hp1 HG01891.hp1 HG02622.hp1 HG02622.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA19043.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0020 a0001c0021 a0004c0015	a0001c0001t0021 a0001c0001t0067 a0001c0002t0001 others(9): Show a0001c0001t0021 a0001c0001t0067 a0001c0002t0001 a0001c0002t0013 a0001c0002t0015 a0001c0002t0032 a0001c0002t0053 a0001c0004t0050 a0001c0020t0008 a0001c0020t0068 a0001c0021t0024 a0004c0015t0002	a0001c0001t0021g0092 a0001c0001t0067g0093 a0001c0002t0001g0032 others(13): Show a0001c0001t0021g0092 a0001c0001t0067g0093 a0001c0002t0001g0032 a0001c0002t0001g0091 a0001c0002t0013g0111 a0001c0002t0013g0211 a0001c0002t0015g0054 a0001c0002t0015g0163 a0001c0002t0032g0179 a0001c0002t0053g0116 a0001c0004t0050g0033 a0001c0020t0008g0063 a0001c0020t0068g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0004c0015t0002g0087	16	254	0.0630	95	c.162 others(112): Show c.162+2084_162+2085insCACACCAAGTGTCCTGATGCGTAGACCC CTGTGGAGACCTACTTAATCCACACCGGTGTCCTGATGCGTAGACCCCTG TGGAGACCTACTTAATC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112789593	C C	CGTAGACT others(88): Show CGTAGACTCCTGTGGATACCTACTTAATTCACACCGGTGTCCTGACGCGT AGACCCCTGTGGATACCTACTTAATTCACACCGGGTATTCTGACAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0068 a0001c0020t0068	a0001c0020t0068g0055 a0001c0020t0068g0055	1	254	0.0039	95	c.162 others(112): Show c.162+4342_162+4343insTCCTGTGGATACCTACTTAATTCACACC GGTGTCCTGACGCGTAGACCCCTGTGGATACCTACTTAATTCACACCGGG TATTCTGACATGTAGAC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTATATAT others(88): Show GTATATATATATATATAGTTTATATATATATAGTTTATATATATAAACTA TATATATATAAACTATATATATATATATACTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	304	0.0033	95	c.331 others(114): Show c.3314-1171_3314-1170insTATATATATATATATAGTATATATAT ATATATAGTTTATATATATATAGTTTATATATATAAACTATATATATATA AACTATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTATATAT others(88): Show GTATATATATATATATATATAGTTTATATATATATAGTTTATATATATAA ACTATATATATATAAACTATATATATATATACTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0157 a0001c0001t0005g0157	1	304	0.0033	95	c.331 others(114): Show c.3314-1171_3314-1170insTATATATATATATAGTATATATATAT ATAGTTTATATATATATAGTTTATATATATAAACTATATATATATAAACT ATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP1B4_chrX_120357089_120388237	120374766	A A	ATATATAT others(88): Show ATATATATATACACCCTTATATATAATATAATATATATATTATATATAAC GGTATATATATATATATTATATATAAGGGTATATATATTATACCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 HG02258.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	2	353	0.0057	95	c.563 others(110): Show c.563-598_563-597insTACACCCTTATATATAATATAATATATATA TTATATATAACGGTATATATATATATATTATATATAAGGGTATATATATT ATACCCTTATATATA	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP5ME_chr4_667436_679276	669118	A A	ACTACCCC others(88): Show ACTACCCCATGCTAGTCCCCACTACCCCATGCTATTCCCGCTACCCCATG CTATTCCCCTACCCCATGCTATTCCCACTACCCCCATGCTATTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	95	c.33 others(106): Show c.3381_*3382insGGGAATAGCATGGGGGTAGTGGGAATAGCATGGG GTAGGGGAATAGCATGGGGTAGCGGGAATAGCATGGGGTAGTGGGGACTA GCATGGGGTAG	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3317		chr4	TogoVar
ATP9B_chr18_79064394_79383283	79285622	T T	TTAGATCC others(88): Show TTAGATCCCATTTGTCAGAATGGCCGAGTGGTTAAGGCGTTGGACTTAAG ATCCAATGGATTCATATCCGCGTGGGTTCGAACCCCACTTCTGGTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0014t0006g0017 a0001c0014t0006g0093	2	298	0.0067	95	c.141 others(114): Show c.1411+8442_1411+8443insGAATGGCCGAGTGGTTAAGGCGTTGG ACTTAAGATCCAATGGATTCATATCCGCGTGGGTTCGAACCCCACTTCTG GTATAGATCCCATTTGTCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT3_chr12_454939_568509	479916	T T	TATTCAGA others(88): Show TATTCAGAACTGACCAATTAAAAAAAAACCAACCAGGATGGGGAGTTCTA TTCAGAACTGACCAATTAAAAAAAAACCAACCAGGATGGGGAGTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0092 a0011c0015t0092	a0011c0015t0092g0234 a0011c0015t0092g0234	1	394	0.0025	95	c.169 others(114): Show c.169+19371_169+19372insATTCAGAACTGACCAATTAAAAAAAA ACCAACCAGGATGGGGAGTTCTATTCAGAACTGACCAATTAAAAAAAAAC CAACCAGGATGGGGAGTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19			chr12	TogoVar
B4GALNT3_chr12_454939_568509	511477	C C	CACCTTCC others(88): Show CACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCC ACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTTCG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0113 a0001c0001t0012g0113	1	394	0.0025	95	c.170 others(114): Show c.170-23683_170-23682insCACCTTCTTCCACCTTCCACCTTCCA CCTTCTACCTTCCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCA CCTTCCGCCTTCGACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL7A_chr12_122016884_122067044	122021388	A A	AGGCGACG others(88): Show AGGCGACGTCCTAGCTCGCATTTGAACAGGGCCGCGGGCCAGCAGAGATG CGCGATGCCCAACTCTTTCCAAGAGCACCTCGCGTCCCGAACCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0170 a0001c0002t0006g0170	1	362	0.0028	95	c.-70 others(104): Show c.-704_-703insGGCGACGTCCTAGCTCGCATTTGAACAGGGCCGCGG GCCAGCAGAGATGCGCGATGCCCAACTCTTTCCAAGAGCACCTCGCGTCC CGAACCGGT	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding		495		chr12	TogoVar
BRSK2_chr11_1384934_1467689	1430586	C C	CGGTCTGG others(88): Show CGGTCTGGTCAGGTTTTGCCACTGTGCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	360	0.0028	95	c.92- others(110): Show c.92-5428_92-5427insCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAG GTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1441289	T T	TGCCCCTC others(88): Show TGCCCCTCAAGTGCACCATCCCCCCCATTAACTACCCCTCAAGTGCACCA TCCCCCCCATTAGCGGCCCCTCAAGTGCACCGTCCCCCCATTAGCG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0289 a0002c0005t0005g0289	1	360	0.0028	95	c.413 others(110): Show c.413+443_413+444insCCCCCCATTAGCGGCCCCTCAAGTGCACCA TCCCCCCCATTAACTACCCCTCAAGTGCACCATCCCCCCCATTAGCGGCC CCTCAAGTGCACCGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSG_chr19_567596_588493	570591	A A	AGGGGCGG others(88): Show AGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTGGGAGGGGCGGAGGGG CGGGTGGGGAGGGGAGGGTTGGGAGGGGCGGAGGGGCGGGTGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	2	306	0.0065	95	c.-20 others(106): Show c.-2044_-2043insGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTG GGAGGGGCGGAGGGGCGGGTGGGGAGGGGAGGGTTGGGAGGGGCGGAGGG GCGGGTGGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2004		chr19	TogoVar
BSG_chr19_567596_588493	570682	G G	GGAGGGGC others(88): Show GGAGGGGCGGAGGGGTGGGGGAGGGGGCGGAGGGGTGGGTGGGGGAGGGG TGGAGGGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01167.hp2 others(4): Show HG00280.hp2 HG00738.hp1 HG01167.hp2 HG02148.hp2 NA18994.hp1 NA18998.hp1 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0008c0014	a0001c0001t0002 a0001c0002t0001 a0001c0008t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0008t0002 a0008c0014t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0002t0001g0109 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0002t0001g0109 a0001c0008t0002g0007 a0001c0008t0002g0011 a0008c0014t0002g0131	7	306	0.0229	95	c.-19 others(106): Show c.-1953_-1952insGAGGGGCGGAGGGGTGGGGGAGGGGGCGGAGGGG TGGGTGGGGGAGGGGTGGAGGGGTGGGTGGAAGGGGCGGGGGTGGGTGGG GGAGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1913		chr19	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(88): Show ATACATATATTATATATGTATATATTATATATAAAATATATATAATATAT ATTAAAAATATATATAATATATATTAAAAATATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	186	0.0054	95	c.225 others(114): Show c.225-18719_225-18718insCATATATTATATATGTATATATTATA TATAAAATATATATAATATATATTAAAAATATATATAATATATATTAAAA ATATATATAATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
C10orf67_chr10_23197696_23349797	23331419	G G	GAAGGGAA others(88): Show GAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGG AAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01175.hp1 others(1): Show HG01070.hp1 HG01109.hp1 HG01175.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0002g0137 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0002g0137 a0001c0001t0002g0187	4	326	0.0123	95	c.327 others(112): Show c.327+1642_327+1643insTTCCCTTCCCTTCCCTTCCCTTTTCCCT TCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTT TTCCCTTCCCTTCCCTT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564832	C C	CTCTATAT others(88): Show CTCTATATATATATTATATATATTATATATAATATATATTTTATATTATA TAAAATATATATTATATATATTTTATATATTATATAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0152 a0006c0007t0001g0152	1	218	0.0046	95	c.314 others(114): Show c.314-50894_314-50893insATATATATTTTATATAATATATAAAA TATATATAATATATATTTTATATAATATAAAATATATATTATATATAATA TATATAATATATATATAGA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565028	T T	TAATATAT others(88): Show TAATATATAAAATATATATTATATATAATATATAAAATATATATTATATA TAAAATATAAAATATATATTATATATAAAATATAAAATATATATTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02647.hp1 HG01099.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0153 a0001c0001t0003g0143 a0001c0001t0001g0153 a0001c0001t0003g0143	2	218	0.0092	95	c.314 others(114): Show c.314-51090_314-51089insTAATATATATTTTATATTTTATATAT AATATATATTTTATATTTTATATATAATATATATTTTATATATTATATAT AATATATATTTTATATATT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C1RL_chr12_7089554_7114214	7101128	T T	TTCCCTCC others(88): Show TTCCCTCCCTCCCTCCTTCCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCT TCTTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	438	0.0023	95	c.490 others(110): Show c.490+769_490+770insGAAGGAAAGAAGGAAGGAGGGAGGGAGGGA GGGAAGGAAGGAAAGAAGGAAGGAGGGAGGGAAGGAAGGAAGGAAAGGAA GGAGGGAGGGAGGGA	C1RL	ENSG00000139178.12	transcript	ENST00000266542.9	protein_coding	3/5			chr12	TogoVar
C2CD4C_chr19_400445_414147	404828	T T	TGTGGGGG others(88): Show TGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGT CCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0028 a0001c0001t0012g0028	1	322	0.0031	95	c.22 others(106): Show c.2267_*2268insCCCTCAGGACAGGACCCCGTCCCCCCCTCACACC CCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCC GTCCCCCCCAC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		616		chr19	TogoVar
C2orf69_chr2_199906293_199933273	199913420	T T	TTATAATA others(88): Show TTATAATATATATTATATATAATATATATTCTATTATAATATATATTATA TATAATATATTCTATTATGATATATAATATATAATAACATATATTA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	412	0.0024	95	c.333 others(112): Show c.333+1653_333+1654insATATATATTATATATAATATATATTCTA TTATAATATATATTATATATAATATATTCTATTATGATATATAATATATA ATAACATATATTATATA	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(88): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	338	0.0030	95	c.300 others(112): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185709	T T	TGCATAGG others(88): Show TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 NA19000.hp2 others(1): Show HG02622.hp1 HG03486.hp2 NA19000.hp2 NA19043.hp2	a0001 a0002 a0081 a0001 a0002 a0081	a0001c0001 a0001c0101 a0002c0002 others(1): Show a0001c0001 a0001c0101 a0002c0002 a0081c0085	a0001c0001t0001 a0001c0101t0016 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0101t0016 a0002c0002t0001 a0081c0085t0001	a0001c0001t0001g0113 a0001c0101t0016g0093 a0002c0002t0001g0209 others(1): Show a0001c0001t0001g0113 a0001c0101t0016g0093 a0002c0002t0001g0209 a0081c0085t0001g0227	4	338	0.0118	95	c.300 others(112): Show c.300-9261_300-9260insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185764	T T	TGCATAGG others(88): Show TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0017 a0003c0015t0017	a0003c0015t0017g0271 a0003c0015t0017g0271	1	338	0.0030	95	c.300 others(112): Show c.300-9206_300-9205insATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	55033830	A A	ATATAATA others(88): Show ATATAATATGTATTATATATTAAATATATTTTATATAATATGTATTATAT ATTAAATATATTTTATATAATATATATTATATATTAAATATATTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0055 a0001c0005t0003g0055	1	118	0.0085	95	c.298 others(116): Show c.2987+15517_2987+15518insATATGTATTATATATTAAATATAT TTTATATAATATGTATTATATATTAAATATATTTTATATAATATATATTA TATATTAAATATATTTTTATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55033830	A A	ATATAATA others(88): Show ATATAATATGTATTATATATTAAATATATTTTATATAATATGTATTATAT ATTAAATATATTTTATATAATATGTATTATATATTAAATATATTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02895.hp1 HG03225.hp2 others(2): Show HG01106.hp1 HG02895.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0024	a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0024t0001	a0001c0001t0001g0024 a0001c0003t0001g0038 a0001c0004t0002g0008 others(2): Show a0001c0001t0001g0024 a0001c0003t0001g0038 a0001c0004t0002g0008 a0001c0005t0001g0052 a0001c0024t0001g0069	5	118	0.0424	95	c.298 others(116): Show c.2987+15517_2987+15518insATATGTATTATATATTAAATATAT TTTATATAATATGTATTATATATTAAATATATTTTATATAATATGTATTA TATATTAAATATATTTTTATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55033864	A A	ATATAATA others(88): Show ATATAATATGTATTATATATTAAATATATTTTATATAATATGTATTATAT ATTAAATATATTTTATATAATATGTATTATATATTAAATATATTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02976.hp1 HG03041.hp1 others(1): Show HG01934.hp1 HG02976.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0025 others(1): Show a0001c0003 a0001c0010 a0001c0025 a0001c0037	a0001c0003t0001 a0001c0010t0006 a0001c0025t0004 others(1): Show a0001c0003t0001 a0001c0010t0006 a0001c0025t0004 a0001c0037t0004	a0001c0003t0001g0042 a0001c0010t0006g0062 a0001c0025t0004g0106 others(1): Show a0001c0003t0001g0042 a0001c0010t0006g0062 a0001c0025t0004g0106 a0001c0037t0004g0019	4	118	0.0339	95	c.298 others(116): Show c.2987+15551_2987+15552insATATGTATTATATATTAAATATAT TTTATATAATATGTATTATATATTAAATATATTTTATATAATATGTATTA TATATTAAATATATTTTTATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85212819	T T	TTTCTTTC others(88): Show TTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	146	0.0069	95	c.61+ others(114): Show c.61+253158_61+253159insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTTCTTTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85212885	T T	TCTTTCTC others(88): Show TCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	146	0.0069	95	c.61+ others(114): Show c.61+253219_61+253220insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858011	A A	ATAGAGTA others(88): Show ATAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGA GTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	328	0.0031	95	c.100 others(114): Show c.1008+1828_1008+1829insGTAGAGTAGAGTAGAGTAGAGTAGAG TAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAG TAGAGTAGAGTAGAGTAGA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(88): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAAAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	328	0.0031	95	c.100 others(114): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAAAATAGAATAGAATAGA ATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CALN1_chr7_71774491_72417338	72114255	A A	AAGGGGAG others(88): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	142	0.0070	95	c.245 others(112): Show c.245-7962_245-7961insCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAAAATAT others(88): Show AAAAATATATATATACATATATACACATATATATATACATATATACACAT ATATATATACATATATACATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0070 a0001c0001t0019g0070	1	142	0.0070	95	c.244 others(114): Show c.244+73134_244+73135insATATATATATATATGTATATATATAT ATGTATATATGTATATATATATGTGTATATATGTATATATATATGTGTAT ATATGTATATATATATTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN10_chr2_240581734_240604104	240602675	A A	ACCACTCC others(88): Show ACCACTCCCGCCAGGCTCCTGGGGCACCGCCGGCCACTCCCGCCAGGCTC CTGGGGCACCGCCGCCCACTCCCGCCAGGCTCCTGGGGCACCGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	412	0.0024	95	c.39 others(106): Show c.3995_*3996insCCACTCCCGCCAGGCTCCTGGGGCACCGCCGGCC ACTCCCGCCAGGCTCCTGGGGCACCGCCGCCCACTCCCGCCAGGCTCCTG GGGCACCGCCG	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3572		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602675	A A	ACCACTCC others(88): Show ACCACTCCCGCCAGGCTCCTGGGGCACCGCCGGCCACTCCCGCCAGGCTC CTGGGGCACCGCCGGCCACTCCCGCCAGGCTCCTGGGGCACCGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	412	0.0024	95	c.39 others(106): Show c.3995_*3996insCCACTCCCGCCAGGCTCCTGGGGCACCGCCGGCC ACTCCCGCCAGGCTCCTGGGGCACCGCCGGCCACTCCCGCCAGGCTCCTG GGGCACCGCCG	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3572		chr2	TogoVar
CAPN12_chr19_38725192_38749474	38735798	G G	GGGGCGGG others(88): Show GGGGCGGGGGTTCTGCGGGCGGGGCGGGGGTTCTGCGGGCGGGGCGGGGG TTCTGCGGGCGGGGCGGGGGTTCTGCGGGCAGGGCGGGGGTTCTGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0036 a0003c0005t0004g0036	1	342	0.0029	95	c.158 others(112): Show c.1584-255_1584-254insGCAGAACCCCCGCCCTGCCCGCAGAACC CCCGCCCCGCCCGCAGAACCCCCGCCCCGCCCGCAGAACCCCCGCCCCGC CCGCAGAACCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735817	G G	GCGGGCGG others(88): Show GCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCT GCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19011.hp2 NA18993.hp1 NA19011.hp2	a0001 a0035 a0001 a0035	a0001c0001 a0035c0041 a0001c0001 a0035c0041	a0001c0001t0005 a0035c0041t0005 a0001c0001t0005 a0035c0041t0005	a0001c0001t0005g0291 a0035c0041t0005g0302 a0001c0001t0005g0291 a0035c0041t0005g0302	2	342	0.0059	95	c.158 others(112): Show c.1584-274_1584-273insGCCCCGCCCCGCCCCGCCCCGCCCCGCC CCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCCGCCCGCAGAACCA CCGCCCCGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735837	G G	GGGGGCGG others(88): Show GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGG CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0236 a0001c0001t0001g0237	2	342	0.0059	95	c.158 others(112): Show c.1583+272_1583+273insGCCCCCAGAACCCCCGCCCCGCCCCGCC CGCAGAACCACCGCCCCGCCCGCAGAACCACCGCCCCGCCCCCAGAACCC CCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735842	C C	CGGGGCGG others(88): Show CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0003 a0006c0038t0003	a0006c0038t0003g0308 a0006c0038t0003g0308	1	342	0.0029	95	c.158 others(112): Show c.1583+267_1583+268insCAGAACCCCCGCCCCGCCCCCAGAACCC CCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCC CCCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735937	G G	GGGGGCGG others(88): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGTGGTTCTGCGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02132.hp1 HG03017.hp1 others(6): Show HG02040.hp1 HG02132.hp1 HG03017.hp1 HG03942.hp1 HG04184.hp1 NA18970.hp2 NA19010.hp2 NA19011.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0289 others(6): Show a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0298	9	342	0.0263	95	c.158 others(112): Show c.1583+172_1583+173insGCCCCCAGAACCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735938	G G	GGGGCGGG others(88): Show GGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGTGGTTCTGCGGGC GGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0035 a0035	a0035c0041 a0035c0041	a0035c0041t0005 a0035c0041t0005	a0035c0041t0005g0302 a0035c0041t0005g0302	1	342	0.0029	95	c.158 others(112): Show c.1583+171_1583+172insTGCCCCCAGAACCCCCGCCCCGCCCCCA GAACCCCCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCCGCCCCCA GAACCCCCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	524741	T T	TCCTGCCT others(88): Show TCCTGCCTCTGCTGAAGGGCAGGTATAGGAAGGCTGGACCCCCTCAGCGG CCCCCCGAATGTGGGTGCAGAGCCCCTCACATGAGGACCGCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0270 a0001c0006t0003g0270	1	410	0.0024	95	c.-34 others(106): Show c.-3478_-3477insCCTGCCTCTGCTGAAGGGCAGGTATAGGAAGGCT GGACCCCCTCAGCGGCCCCCCGAATGTGGGTGCAGAGCCCCTCACATGAG GACCGCCCCAG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding		2970		chr16	TogoVar
CASP9_chr1_15486401_15529215	15488055	C C	CACACATT others(88): Show CACACATTTTTTATAACAATAAGCATTAAAAATATTTATTAAAAATAATA GGCCAGGTGCCATGGCTCATGCCTGTAATCGCAGCACTTTGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0222 a0001c0003t0002g0222	1	350	0.0029	95	c.47 others(106): Show c.4793_*4887dupCCTCCCAAAGTGCTGCGATTACAGGCATGAGCCA TGGCACCTGGCCTATTATTTTTAATAAATATTTTTAATGCTTATTGTTAT AAAAAATGTGT	CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding		3345		chr1	TogoVar
CCDC102A_chr16_57507181_57541571	57520536	A A	AATAACAT others(88): Show AATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAACATAACATAACATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0013 a0013	a0013c0035 a0013c0035	a0013c0035t0025 a0013c0035t0025	a0013c0035t0025g0299 a0013c0035t0025g0299	1	416	0.0024	95	c.921 others(110): Show c.921+531_921+532insGTTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATGTTAT	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	4/8			chr16	TogoVar
CCDC149_chr4_24798514_24918042	24906364	A A	AATTTTAT others(88): Show AATTTTATTTTATTTTTATTTTATTTTATTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0232 a0001c0001t0057g0232	1	354	0.0028	95	c.48+ others(110): Show c.48+6452_48+6453insAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATA AAAATAAAATAAAAT	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTGCCC others(88): Show CCCTGCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	410	0.0024	95	c.-22 others(106): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGGAGGAGGAGGGGAG GGGAGGGCAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar

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