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
CNTNAP2_chr7_146111801_148425998	148022480	A A	AAAAAAGA others(7): Show AAAAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0035	1	40	0.0250	14	c.238 others(35): Show c.2383+44495_2383+44496insAGAAAAAAAGAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148098444	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0006 a0001c0008t0001 a0001c0001t0006 a0001c0008t0001	a0001c0001t0006g0009 a0001c0008t0001g0025 a0001c0001t0006g0009 a0001c0008t0001g0025	2	40	0.0500	14	c.238 others(35): Show c.2384-19662_2384-19649dupAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148099421	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0017 a0001c0003t0020g0017	1	40	0.0250	14	c.238 others(35): Show c.2384-18671_2384-18658dupGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148283255	A A	AGAAAAGA others(7): Show AGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03239.hp2 HG03139.hp1 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0001 a0001c0002t0002 a0001c0008t0001	a0001c0002t0002g0040 a0001c0008t0001g0025 a0001c0002t0002g0040 a0001c0008t0001g0025	2	40	0.0500	14	c.347 others(35): Show c.3475+16129_3475+16130insGAAAAGAAAGAAAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365744	A A	ATGTATGC others(7): Show ATGTATGCGTATGCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0032 a0001c0005t0022g0032	1	40	0.0250	14	c.347 others(35): Show c.3476-17900_3476-17899insGCGTATGCGTGTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365951	T T	TGTATACA others(7): Show TGTATACATGTATGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0032 a0001c0005t0022g0032	1	40	0.0250	14	c.347 others(35): Show c.3476-17694_3476-17693insACATGTATGCGTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148366132	A A	ATACCTGT others(7): Show ATACCTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0003 a0001c0008t0001g0025 a0001c0001t0001g0003 a0001c0008t0001g0025	2	40	0.0500	14	c.347 others(35): Show c.3476-17516_3476-17515insACCTGTATGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148405420	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 NA18522.hp2 HG01891.hp2 HG02486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020	3	40	0.0750	14	c.371 others(33): Show c.3716-3958_3716-3945dupTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934100	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG02273.hp2 others(3): Show HG01071.hp2 HG01081.hp2 HG02273.hp2 HG03453.hp2 HG03490.hp1 HG03704.hp1	a0001 a0004 a0029 a0001 a0004 a0029	a0001c0001 a0004c0004 a0029c0039 a0001c0001 a0004c0004 a0029c0039	a0001c0001t0002 a0001c0001t0003 a0004c0004t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0004c0004t0005 a0029c0039t0002	a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0003g0095 others(3): Show a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0003g0095 a0004c0004t0005g0029 a0004c0004t0005g0030 a0029c0039t0002g0016	6	108	0.0556	14	c.223 others(33): Show c.2237+4130_2237+4143dupATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934122	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0023 a0008c0009t0023	a0008c0009t0023g0039 a0008c0009t0023g0039	1	108	0.0093	14	c.223 others(33): Show c.2237+4121_2237+4122insGTATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030750	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp1 HG02135.hp2 others(2): Show HG01255.hp2 HG01952.hp1 HG02135.hp2 HG02886.hp2 NA18949.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0002c0010 a0002c0024 others(1): Show a0002c0002 a0002c0010 a0002c0024 a0009c0006	a0002c0002t0001 a0002c0010t0001 a0002c0024t0001 others(1): Show a0002c0002t0001 a0002c0010t0001 a0002c0024t0001 a0009c0006t0010	a0002c0002t0001g0050 a0002c0010t0001g0057 a0002c0010t0001g0058 others(2): Show a0002c0002t0001g0050 a0002c0010t0001g0057 a0002c0010t0001g0058 a0002c0024t0001g0054 a0009c0006t0010g0070	5	108	0.0463	14	c.391 others(33): Show c.391-17239_391-17226dupCTCTCTCTCTCTCT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030813	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02135.hp1 HG02486.hp2 others(1): Show HG01516.hp2 HG02135.hp1 HG02486.hp2 NA18949.hp2	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0001c0047 a0010c0013 others(1): Show a0001c0001 a0001c0047 a0010c0013 a0011c0038	a0001c0001t0002 a0001c0047t0016 a0010c0013t0003 others(1): Show a0001c0001t0002 a0001c0047t0016 a0010c0013t0003 a0011c0038t0007	a0001c0001t0002g0005 a0001c0047t0016g0015 a0010c0013t0003g0103 others(1): Show a0001c0001t0002g0005 a0001c0047t0016g0015 a0010c0013t0003g0103 a0011c0038t0007g0008	4	108	0.0370	14	c.391 others(33): Show c.391-17302_391-17289dupTCTCTCTCTCTCTC	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76376907	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19011.hp1 NA19060.hp1 NA18991.hp2 NA19011.hp1 NA19060.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0072 a0002c0005t0004g0104 a0002c0005t0004g0215 a0002c0005t0004g0072 a0002c0005t0004g0104 a0002c0005t0004g0215	3	274	0.0110	14	c.390 others(33): Show c.390+21430_390+21443dupGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76385547	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0204 a0002c0002t0010g0204	1	274	0.0037	14	c.390 others(33): Show c.390+30053_390+30066dupGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0220 a0005c0008t0001g0220	1	274	0.0037	14	c.391 others(33): Show c.391-29508_391-29507insTATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76451599	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01257.hp1 HG01981.hp1 others(9): Show HG00609.hp1 HG01257.hp1 HG01981.hp1 HG02015.hp1 HG02602.hp1 HG02698.hp1 HG03239.hp1 NA18968.hp2 NA18970.hp1 NA19004.hp1 NA19010.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0023	a0001c0001 a0002c0002 a0002c0011 others(2): Show a0001c0001 a0002c0002 a0002c0011 a0003c0003 a0023c0020	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0004 a0002c0011t0002 a0002c0011t0005 a0003c0003t0003 a0023c0020t0009	a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0123 others(9): Show a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0001g0185 a0001c0001t0003g0197 a0002c0002t0002g0012 a0002c0002t0004g0226 a0002c0011t0002g0216 a0002c0011t0005g0144 a0003c0003t0003g0011 a0023c0020t0009g0103	12	274	0.0438	14	c.107 others(31): Show c.1072-887_1072-874dupGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	274	0.0037	14	c.133 others(33): Show c.1334-1182_1334-1181insAAAATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0259 a0003c0003t0007g0259	1	274	0.0037	14	c.133 others(33): Show c.1334-1174_1334-1161dupATATATATATATAT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0044 a0003c0006t0001g0044	1	274	0.0037	14	c.165 others(33): Show c.1655+2961_1655+2974dupTATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470495	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG01258.hp1 others(12): Show HG00609.hp1 HG00673.hp2 HG01258.hp1 HG02056.hp1 HG03491.hp1 HG03492.hp1 NA18962.hp1 NA18970.hp1 NA18991.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19056.hp1 NA19077.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0001c0018 a0002c0002 others(2): Show a0001c0001 a0001c0018 a0002c0002 a0002c0011 a0022c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0018t0001 a0002c0002t0004 a0002c0002t0005 a0002c0011t0004 a0002c0011t0005 a0022c0025t0002	a0001c0001t0001g0026 a0001c0001t0001g0151 a0001c0001t0003g0065 others(12): Show a0001c0001t0001g0026 a0001c0001t0001g0151 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0124 a0001c0001t0003g0184 a0001c0001t0009g0231 a0001c0018t0001g0106 a0002c0002t0004g0150 a0002c0002t0004g0153 a0002c0002t0005g0178 a0002c0011t0004g0078 a0002c0011t0005g0139 a0002c0011t0005g0144 a0022c0025t0002g0110	15	274	0.0547	14	c.165 others(33): Show c.1655+2974_1655+2975insTATATATATATTTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76483231	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19056.hp2 HG04184.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0003g0228 a0001c0001t0001g0120 a0001c0001t0003g0228	2	274	0.0073	14	c.188 others(33): Show c.1882+3727_1882+3740dupCACACACACACACA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76496085	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02717.hp1 others(3): Show HG02109.hp2 HG02257.hp2 HG02717.hp1 HG02896.hp1 HG03579.hp1 NA18906.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0001c0015 a0007c0013 others(1): Show a0001c0001 a0001c0015 a0007c0013 a0013c0033	a0001c0001t0004 a0001c0015t0004 a0007c0013t0022 others(1): Show a0001c0001t0004 a0001c0015t0004 a0007c0013t0022 a0013c0033t0002	a0001c0001t0004g0053 a0001c0001t0004g0172 a0001c0001t0004g0191 others(3): Show a0001c0001t0004g0053 a0001c0001t0004g0172 a0001c0001t0004g0191 a0001c0015t0004g0089 a0007c0013t0022g0249 a0013c0033t0002g0050	6	274	0.0219	14	c.223 others(33): Show c.2237+1028_2237+1041dupTGTGTGTGTGTGTG	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76496107	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA20300.hp1 HG01981.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0003 a0001c0019t0001 a0001c0001t0003 a0001c0019t0001	a0001c0001t0003g0197 a0001c0019t0001g0198 a0001c0001t0003g0197 a0001c0019t0001g0198	2	274	0.0073	14	c.223 others(33): Show c.2237+1041_2237+1042insTGTGTGTGTGTGTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	14/23			chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76511838	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG02132.hp1 HG00558.hp1 HG00597.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0174 a0001c0004t0003g0084 a0001c0004t0003g0094 a0001c0001t0001g0174 a0001c0004t0003g0084 a0001c0004t0003g0094	3	274	0.0110	14	c.236 others(33): Show c.2366-9291_2366-9278dupGAGAGAGAGAGAGA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124115792	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19000.hp2 NA20129.hp1 HG00423.hp1 NA19000.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0006 a0001c0001 a0001c0002 a0006c0006	a0001c0001t0002 a0001c0002t0001 a0006c0006t0001 a0001c0001t0002 a0001c0002t0001 a0006c0006t0001	a0001c0001t0002g0019 a0001c0002t0001g0005 a0006c0006t0001g0013 a0001c0001t0002g0019 a0001c0002t0001g0005 a0006c0006t0001g0013	3	64	0.0469	14	c.82+ others(31): Show c.82+90082_82+90095dupGTGTGTGTGTGTGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124431508	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	64	0.0156	14	c.530 others(31): Show c.530-2968_530-2955dupTATATATATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510518	T T	TATATATA others(7): Show TATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp1 HG02886.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0019 a0001c0001t0003 a0001c0002t0019	a0001c0001t0003g0006 a0001c0002t0019g0051 a0001c0001t0003g0006 a0001c0002t0019g0051	2	64	0.0313	14	c.132 others(33): Show c.1327+5963_1327+5964insTATATACACACACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124619908	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	64	0.0156	14	c.187 others(35): Show c.1876+10003_1876+10016dupATATATATATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655941	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0045 a0001c0002t0005g0045	1	64	0.0156	14	c.207 others(33): Show c.2077+7984_2077+7985insAAGAAAGAAAGAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124698375	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	64	0.0156	14	c.207 others(35): Show c.2078-48835_2078-48822dupACACACACACACAC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644791	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	384	0.0026	14	c.264 others(29): Show c.264+459_264+460insCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644799	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02080.hp2 NA18973.hp2 HG01891.hp2 HG02080.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0246 a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0246	3	384	0.0078	14	c.264 others(29): Show c.264+438_264+451dupCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01891.hp1 HG02132.hp1 others(14): Show HG00323.hp1 HG01891.hp1 HG02132.hp1 HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02922.hp1 HG02965.hp2 HG03453.hp2 NA18522.hp2 NA18906.hp2 NA18955.hp1 NA18962.hp2 NA18975.hp2 NA19011.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0001g0138	17	384	0.0443	14	c.-38 others(33): Show c.-38-15465_-38-15452dupCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691329	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	384	0.0026	14	c.-39 others(33): Show c.-39+38099_-39+38100insTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691415	G G	GGAAGGAA others(7): Show GGAAGGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	384	0.0026	14	c.-39 others(33): Show c.-39+38013_-39+38014insTTCTTTCTTCCTTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43700591	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	384	0.0026	14	c.-39 others(33): Show c.-39+28824_-39+28837dupACACACACACACAC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710369	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	384	0.0026	14	c.-39 others(33): Show c.-39+19059_-39+19060insATATATATATATAT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234370410	A A	ACCTTTTT others(7): Show ACCTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	406	0.0025	14	c.-30 others(25): Show c.-3057_-3056insCCTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3045		chr1	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(81): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01192.hp2 HG01496.hp1 HG01884.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02886.hp2 HG03041.hp1 HG03225.hp2 HG03490.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19086.hp1 NA19090.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0004t0001 a0003c0003t0002 a0004c0005t0002	a0001c0001t0001g0015 a0001c0001t0001g0119 a0001c0001t0001g0120 others(40): Show a0001c0001t0001g0015 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0175 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0094 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0024 a0002c0002t0001g0034 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0004t0001g0001 a0003c0003t0002g0002 a0003c0003t0002g0080 a0004c0005t0002g0002	84	406	0.2069	14	c.-30 others(25): Show c.-3055_-3054insTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COA6_chr1_234368456_234390080	234377059	C C	CGAGAGAG others(7): Show CGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03017.hp2 HG02109.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0056 a0002c0002t0001g0159 a0001c0001t0001g0056 a0002c0002t0001g0159	2	406	0.0049	14	c.372 others(31): Show c.372+2699_372+2712dupGAGAGAGAGAGAGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA6_chr1_234368456_234390080	234377133	T T	TTTTTTTT others(7): Show TTTTTTTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG01243.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	406	0.0049	14	c.372 others(31): Show c.372+2746_372+2747insTTTTTGTTGTTGTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA6_chr1_234368456_234390080	234383032	A A	AGAAGGAA others(7): Show AGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp1 HG02922.hp1 others(1): Show HG01261.hp1 HG02257.hp1 HG02922.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0018 a0001c0001t0001g0066	4	406	0.0099	14	c.373 others(29): Show c.373-691_373-690insGAAGGAAGGAAGGG	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2			chr1	TogoVar
COBLL1_chr2_164675188_164846823	164805323	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0179 a0001c0001t0029g0179	1	212	0.0047	14	c.41+ others(31): Show c.41+35832_41+35833insTATATATATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805327	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0022 a0022	a0022c0013 a0022c0013	a0022c0013t0002 a0022c0013t0002	a0022c0013t0002g0116 a0022c0013t0002g0116	1	212	0.0047	14	c.41+ others(31): Show c.41+35828_41+35829insTATATATATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805337	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0173 a0001c0001t0044g0173	1	212	0.0047	14	c.41+ others(31): Show c.41+35805_41+35818dupTATATATATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805337	C C	CTCTCTAT others(7): Show CTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp2 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0004 a0001c0001t0027 a0001c0002t0004	a0001c0001t0027g0188 a0001c0002t0004g0190 a0001c0001t0027g0188 a0001c0002t0004g0190	2	212	0.0094	14	c.41+ others(31): Show c.41+35818_41+35819insTATATATATAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818773	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02451.hp1 others(1): Show HG00735.hp1 HG02109.hp1 HG02451.hp1 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0032 a0001c0002 a0004c0032	a0001c0002t0002 a0001c0002t0058 a0001c0002t0060 others(1): Show a0001c0002t0002 a0001c0002t0058 a0001c0002t0060 a0004c0032t0001	a0001c0002t0002g0165 a0001c0002t0058g0164 a0001c0002t0060g0162 others(1): Show a0001c0002t0002g0165 a0001c0002t0058g0164 a0001c0002t0060g0162 a0004c0032t0001g0163	4	212	0.0189	14	c.41+ others(31): Show c.41+22382_41+22383insGTATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018891	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	230	0.0044	14	c.376 others(33): Show c.3769-1337_3769-1324dupTTTTTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51061946	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03041.hp2 NA19007.hp1 others(1): Show HG01255.hp2 HG03041.hp2 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0010 a0001c0033 others(1): Show a0001c0006 a0001c0010 a0001c0033 a0001c0037	a0001c0006t0003 a0001c0010t0002 a0001c0033t0001 others(1): Show a0001c0006t0003 a0001c0010t0002 a0001c0033t0001 a0001c0037t0001	a0001c0006t0003g0038 a0001c0010t0002g0073 a0001c0033t0001g0064 others(1): Show a0001c0006t0003g0038 a0001c0010t0002g0073 a0001c0033t0001g0064 a0001c0037t0001g0175	4	230	0.0174	14	c.109 others(35): Show c.1097-18255_1097-18254insGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51061954	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0151 a0009c0017t0001g0151	1	230	0.0044	14	c.109 others(35): Show c.1097-18263_1097-18262insATGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar

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