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
CNTN4_chr3_2093866_3062959	2617419	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0079 a0002c0016t0003g0079	1	37	0.0270	22	c.55+ others(39): Show c.55+45880_55+45881insTTTTTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2815873	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG01884.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0101 a0001c0001t0009g0052 a0001c0001t0003g0101 a0001c0001t0009g0052	2	39	0.0513	22	c.359 others(39): Show c.359-3595_359-3594insATATATATATATATATATATAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2994613	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0034 a0003c0019t0002g0034	1	101	0.0099	22	c.148 others(41): Show c.1486+6142_1486+6143insATATATATATATATATATATGT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99358255	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0011 a0007c0010t0011	a0007c0010t0011g0009 a0007c0010t0011g0009	1	8	0.1250	22	c.-71 others(41): Show c.-71+32791_-71+32792insTTTTTTTTTTTTTTTTTTTTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99727312	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	18	0.0556	22	c.56- others(39): Show c.56-92231_56-92210dupAAAAAAAAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99941571	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02257.hp2 NA19043.hp1 HG01169.hp2 HG02257.hp2 NA19043.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0006 a0011c0009 a0001c0001 a0004c0006 a0011c0009	a0001c0001t0015 a0004c0006t0001 a0011c0009t0005 a0001c0001t0015 a0004c0006t0001 a0011c0009t0005	a0001c0001t0015g0064 a0004c0006t0001g0005 a0011c0009t0005g0056 a0001c0001t0015g0064 a0004c0006t0001g0005 a0011c0009t0005g0056	3	45	0.0667	22	c.674 others(41): Show c.674-15220_674-15219insCACACACACACACACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99981077	G G	GATAGATA others(15): Show GATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	32	0.0313	22	c.878 others(41): Show c.878-20954_878-20953insGATATATATATATATATATATA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99981077	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03041.hp2 HG01243.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0004 a0001c0001t0010 a0002c0002t0004	a0001c0001t0010g0023 a0002c0002t0004g0039 a0001c0001t0010g0023 a0002c0002t0004g0039	2	33	0.0606	22	c.878 others(41): Show c.878-20951_878-20930dupTATATATATATATATATATATA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100072990	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	11	0.0909	22	c.143 others(41): Show c.1430-1133_1430-1132insAAAAAAAAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100161830	T T	TACACATA others(15): Show TACACATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02965.hp2 HG01123.hp1 HG02109.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060	3	19	0.1579	22	c.158 others(43): Show c.1581-29291_1581-29290insTACACACACACACACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1098789	C C	CACACACA others(15): Show CACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	93	0.0108	22	c.-83 others(39): Show c.-83+5670_-83+5671insCACACACATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1119322	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG00738.hp1 others(25): Show HG00423.hp1 HG00733.hp2 HG00738.hp1 HG01256.hp1 HG01515.hp1 HG01943.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02280.hp2 HG02451.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp2 HG03225.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG06807.hp2 NA18950.hp2 NA18961.hp1 NA19002.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0012t0001 a0001c0013t0001 a0001c0023t0001	a0001c0001t0001g0045 a0001c0001t0001g0106 a0001c0001t0001g0171 others(25): Show a0001c0001t0001g0045 a0001c0001t0001g0106 a0001c0001t0001g0171 a0001c0001t0002g0044 a0001c0002t0001g0039 a0001c0002t0001g0107 a0001c0002t0001g0117 a0001c0003t0001g0062 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0124 a0001c0003t0001g0225 a0001c0005t0001g0164 a0001c0005t0001g0180 a0001c0005t0001g0193 a0001c0005t0001g0203 a0001c0005t0004g0194 a0001c0006t0001g0154 a0001c0007t0001g0001 a0001c0008t0001g0123 a0001c0009t0001g0155 a0001c0009t0003g0133 a0001c0010t0001g0010 a0001c0010t0001g0207 a0001c0012t0001g0121 a0001c0013t0001g0205 a0001c0023t0001g0186	28	35	0.8000	22	c.-83 others(41): Show c.-83+26212_-83+26233dupTGTGTGTGTGTGTGTGTGTGTG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1160344	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01496.hp1 others(5): Show HG00741.hp1 HG01106.hp1 HG01496.hp1 HG02148.hp2 HG02523.hp1 HG03710.hp2 NA18972.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0009	a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0003	a0001c0002t0001g0061 a0001c0003t0001g0113 a0001c0003t0001g0120 others(5): Show a0001c0002t0001g0061 a0001c0003t0001g0113 a0001c0003t0001g0120 a0001c0003t0001g0144 a0001c0007t0001g0063 a0001c0007t0001g0064 a0001c0008t0001g0169 a0001c0009t0003g0133	8	39	0.2051	22	c.55+ others(39): Show c.55+12284_55+12305dupTATATATATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1201099	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	49	0.0204	22	c.56- others(39): Show c.56-19562_56-19541dupGTGTGTGTGTGTGTGTGTGTGT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1280459	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02615.hp2 others(1): Show HG02109.hp1 HG02615.hp1 HG02615.hp2 NA19043.hp2	a0002 a0005 a0002 a0005	a0002c0011 a0002c0014 a0005c0027 a0002c0011 a0002c0014 a0005c0027	a0002c0011t0001 a0002c0014t0001 a0005c0027t0001 a0002c0011t0001 a0002c0014t0001 a0005c0027t0001	a0002c0011t0001g0217 a0002c0014t0001g0220 a0002c0014t0001g0232 others(1): Show a0002c0011t0001g0217 a0002c0014t0001g0220 a0002c0014t0001g0232 a0005c0027t0001g0191	4	44	0.0909	22	c.454 others(39): Show c.454+1953_454+1974dupTTTTTTTTTTTTTTTTTTTTTT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1406642	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0132 a0001c0002t0005g0132	1	158	0.0063	22	c.32 others(33): Show c.3224_*3225insGTGTGTGTGTGTGTGTGTGTGT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding		2426		chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146665783	T T	TAAAAAAA others(15): Show TAAAAAAACAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	15	0.0667	22	c.98- others(41): Show c.98-108481_98-108480insCAAAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721042	C C	CTATATAT others(15): Show CTATATATATACTCTATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02717.hp1 others(9): Show HG01891.hp2 HG02486.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03139.hp2 HG03540.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0002c0016 a0002c0017 a0004c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0010 a0001c0003t0011 a0001c0005t0022 a0001c0011t0016 a0002c0016t0004 a0002c0017t0015 a0004c0020t0005	a0001c0001t0001g0003 a0001c0001t0006g0009 a0001c0001t0012g0034 others(9): Show a0001c0001t0001g0003 a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0008 a0001c0002t0010g0002 a0001c0003t0011g0023 a0001c0005t0022g0032 a0001c0011t0016g0019 a0002c0016t0004g0024 a0002c0017t0015g0037 a0004c0020t0005g0016	12	22	0.5455	22	c.98- others(39): Show c.98-53211_98-53210insATATTATATATATACTCTATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147176680	A A	AATATATA others(15): Show AATATATAATAGAATTATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02897.hp1 others(3): Show HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02976.hp2 HG03098.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0020 a0001c0006t0009 a0002c0017t0015	a0001c0001t0001g0003 a0001c0002t0001g0008 a0001c0002t0002g0013 others(3): Show a0001c0001t0001g0003 a0001c0002t0001g0008 a0001c0002t0002g0013 a0001c0003t0020g0017 a0001c0006t0009g0028 a0002c0017t0015g0037	6	23	0.2609	22	c.134 others(43): Show c.1348+44212_1348+44233dupTATTATATATAATAGAATTATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147176687	A A	AATAGAAA others(15): Show AATAGAAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp1 HG03139.hp1 others(1): Show HG02486.hp2 HG02896.hp1 HG03139.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0008 a0004c0020 a0001c0003 a0001c0008 a0004c0020	a0001c0003t0011 a0001c0003t0023 a0001c0008t0001 others(1): Show a0001c0003t0011 a0001c0003t0023 a0001c0008t0001 a0004c0020t0005	a0001c0003t0011g0023 a0001c0003t0023g0030 a0001c0008t0001g0025 others(1): Show a0001c0003t0011g0023 a0001c0003t0023g0030 a0001c0008t0001g0025 a0004c0020t0005g0016	4	40	0.1000	22	c.134 others(43): Show c.1348+44184_1348+44185insATATATAATATATATTATAGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147249604	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 HG01891.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0006 a0001c0011t0016 a0001c0001t0006 a0001c0011t0016	a0001c0001t0006g0009 a0001c0011t0016g0019 a0001c0001t0006g0009 a0001c0011t0016g0019	2	12	0.1667	22	c.134 others(43): Show c.1349-50516_1349-50515insAAAAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147421585	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG03225.hp2 others(2): Show HG02486.hp1 HG02922.hp2 HG03225.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0018 others(1): Show a0001c0001 a0001c0004 a0001c0018 a0002c0016	a0001c0001t0001 a0001c0001t0007 a0001c0004t0005 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0005 a0001c0018t0002 a0002c0016t0004	a0001c0001t0001g0038 a0001c0001t0007g0020 a0001c0004t0005g0004 others(2): Show a0001c0001t0001g0038 a0001c0001t0007g0020 a0001c0004t0005g0004 a0001c0018t0002g0012 a0002c0016t0004g0024	5	7	0.7143	22	c.167 others(43): Show c.1670+25813_1670+25834dupGTGTGTGTGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147486889	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0024 a0002c0016t0004g0024	1	4	0.2500	22	c.177 others(39): Show c.1777+854_1777+875dupGTGTGTGTGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147510850	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0025 a0001c0008t0001g0025	1	6	0.1667	22	c.177 others(43): Show c.1777+24830_1777+24831insTATATATATATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147527015	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0026 a0001c0012t0004g0026	1	10	0.1000	22	c.177 others(43): Show c.1778-35117_1778-35096dupTTTTTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147635184	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	28	0.0357	22	c.189 others(41): Show c.1898-3905_1898-3904insATATATATATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147635198	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0008 a0001c0009 a0001c0011 a0001c0008 a0001c0009 a0001c0011	a0001c0008t0001 a0001c0009t0019 a0001c0011t0016 a0001c0008t0001 a0001c0009t0019 a0001c0011t0016	a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0011t0016g0019 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0011t0016g0019	3	35	0.0857	22	c.189 others(41): Show c.1898-3905_1898-3904insATATATATATATATATATGTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147894957	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	28	0.0357	22	c.209 others(41): Show c.2099-8605_2099-8604insTTTTTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147925154	A A	AGAGAAGG others(15): Show AGAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG02886.hp1 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0013 a0001c0004t0005 a0001c0003t0013 a0001c0004t0005	a0001c0003t0013g0010 a0001c0004t0005g0004 a0001c0003t0013g0010 a0001c0004t0005g0004	2	21	0.0952	22	c.225 others(43): Show c.2255+21435_2255+21436insGAAGGAAGGAAGGAAGGAAGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148106493	G G	GATAGATA others(15): Show GATAGATAGATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	6	0.1667	22	c.238 others(43): Show c.2384-11622_2384-11621insGATAGATATATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148106493	G G	GATAGATA others(15): Show GATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0015 a0001c0019t0006g0015	1	6	0.1667	22	c.238 others(43): Show c.2384-11622_2384-11621insGATATATATATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148106493	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	6	0.1667	22	c.238 others(43): Show c.2384-11619_2384-11598dupTATATATATATATATATATATA	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(15): Show AGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0033 a0001c0006t0014g0033	1	27	0.0370	22	c.347 others(43): Show c.3475+16129_3475+16130insGAAAAGAAAGAAAGAAAGAAAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148351744	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG03098.hp2 others(1): Show HG02451.hp2 HG02486.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0004 a0001c0003t0011	a0001c0001t0002g0006 a0001c0002t0001g0021 a0001c0003t0004g0029 others(1): Show a0001c0001t0002g0006 a0001c0002t0001g0021 a0001c0003t0004g0029 a0001c0003t0011g0023	4	15	0.2667	22	c.347 others(43): Show c.3476-31889_3476-31888insAAAAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934100	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02083.hp1 HG03490.hp2 others(6): Show HG00280.hp2 HG02083.hp1 HG03490.hp2 HG03669.hp2 NA18947.hp1 NA18949.hp2 NA18968.hp2 NA18974.hp1 NA19086.hp2	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0011 a0019 a0031 a0034	a0001c0001 a0004c0004 a0006c0007 others(5): Show a0001c0001 a0004c0004 a0006c0007 a0011c0037 a0011c0040 a0019c0036 a0031c0035 a0034c0027	a0001c0001t0003 a0001c0001t0018 a0004c0004t0005 others(6): Show a0001c0001t0003 a0001c0001t0018 a0004c0004t0005 a0006c0007t0011 a0011c0037t0007 a0011c0040t0007 a0019c0036t0007 a0031c0035t0007 a0034c0027t0005	a0001c0001t0003g0102 a0001c0001t0018g0026 a0004c0004t0005g0031 others(6): Show a0001c0001t0003g0102 a0001c0001t0018g0026 a0004c0004t0005g0031 a0006c0007t0011g0021 a0011c0037t0007g0008 a0011c0040t0007g0003 a0019c0036t0007g0010 a0031c0035t0007g0023 a0034c0027t0005g0033	9	59	0.1525	22	c.223 others(41): Show c.2237+4122_2237+4143dupATATATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934176	T T	TACACACA others(15): Show TACACACACACACATATATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02559.hp1 HG03041.hp1 HG01071.hp1 HG02559.hp1 HG03041.hp1	a0002 a0022 a0026 a0002 a0022 a0026	a0002c0002 a0022c0018 a0026c0019 a0002c0002 a0022c0018 a0026c0019	a0002c0002t0012 a0022c0018t0001 a0026c0019t0001 a0002c0002t0012 a0022c0018t0001 a0026c0019t0001	a0002c0002t0012g0042 a0022c0018t0001g0067 a0026c0019t0001g0066 a0002c0002t0012g0042 a0022c0018t0001g0067 a0026c0019t0001g0066	3	82	0.0366	22	c.223 others(41): Show c.2237+4067_2237+4068insGTATATATATGTGTGTGTGTGT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030750	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01071.hp1 HG00140.hp2 HG00735.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0001 a0002c0002t0012 a0002c0020t0001 a0002c0002t0001 a0002c0002t0012 a0002c0020t0001	a0002c0002t0001g0062 a0002c0002t0012g0042 a0002c0020t0001g0060 a0002c0002t0001g0062 a0002c0002t0012g0042 a0002c0020t0001g0060	3	19	0.1579	22	c.391 others(41): Show c.391-17247_391-17226dupCTCTCTCTCTCTCTCTCTCTCT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76447338	G G	GTATATAT others(15): Show GTATATATATATATGAAATTATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02132.hp2 HG02165.hp1 others(9): Show HG00597.hp2 HG02132.hp2 HG02165.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG03453.hp1 HG03516.hp2 HG03942.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0002c0014 a0002c0042 a0006c0009 a0007c0013	a0001c0001t0001 a0001c0004t0001 a0002c0002t0004 others(8): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0004 a0002c0005t0002 a0002c0014t0006 a0002c0014t0013 a0002c0042t0008 a0006c0009t0001 a0006c0009t0004 a0007c0013t0002 a0007c0013t0022	a0001c0001t0001g0174 a0001c0004t0001g0087 a0002c0002t0004g0021 others(9): Show a0001c0001t0001g0174 a0001c0004t0001g0087 a0002c0002t0004g0021 a0002c0005t0002g0194 a0002c0014t0006g0269 a0002c0014t0013g0263 a0002c0042t0008g0036 a0006c0009t0001g0251 a0006c0009t0001g0258 a0006c0009t0004g0273 a0007c0013t0002g0210 a0007c0013t0022g0249	12	200	0.0600	22	c.539 others(37): Show c.539-664_539-643dupATATGAAATTATATATATATAT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76451599	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0239 a0002c0002t0028g0239	1	65	0.0154	22	c.107 others(39): Show c.1072-895_1072-874dupGTGTGTGTGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0164 a0003c0003t0018g0164	1	104	0.0096	22	c.133 others(41): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19009.hp2 NA19068.hp1 NA19003.hp2 NA19009.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0008 a0001c0001t0001g0219 a0002c0002t0004g0058 a0001c0001t0001g0008 a0001c0001t0001g0219 a0002c0002t0004g0058	3	106	0.0283	22	c.133 others(41): Show c.1334-1182_1334-1181insAAAAAAAAAATATATATATATA	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(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03942.hp2 NA18968.hp1 HG02809.hp2 HG03942.hp2 NA18968.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0002c0005 a0006c0009 a0001c0004 a0002c0005 a0006c0009	a0001c0004t0001 a0002c0005t0002 a0006c0009t0001 a0001c0004t0001 a0002c0005t0002 a0006c0009t0001	a0001c0004t0001g0006 a0002c0005t0002g0194 a0006c0009t0001g0258 a0001c0004t0001g0006 a0002c0005t0002g0194 a0006c0009t0001g0258	3	100	0.0300	22	c.165 others(41): Show c.1655+2974_1655+2975insTATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124057448	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	12	0.0833	22	c.82+ others(39): Show c.82+31718_82+31739dupTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510229	T T	TTATATAT others(15): Show TTATATATCTATATATCTATATC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0038 a0001c0001t0014g0038	1	62	0.0161	22	c.132 others(41): Show c.1327+5679_1327+5700dupATCTATATATCTATATCTATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124541179	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	7	0.1429	22	c.164 others(43): Show c.1649+13740_1649+13741insTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124567862	T T	TAGATAGA others(15): Show TAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	56	0.0179	22	c.175 others(41): Show c.1756+4560_1756+4561insGAGATAGATAGATAGATAGATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124636895	T T	TCTCTGTC others(15): Show TCTCTGTCTCTTTTTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01069.hp2 others(10): Show HG00423.hp1 HG00423.hp2 HG01069.hp2 HG01070.hp1 HG02451.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03704.hp1 NA19000.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0002t0016 a0002c0004t0001 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0002g0019 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0002g0019 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0003g0057 a0001c0001t0015g0037 a0001c0002t0001g0046 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0016g0055 a0002c0004t0001g0001 a0006c0006t0001g0013	13	62	0.2097	22	c.187 others(43): Show c.1877-10859_1877-10858insGTCTCTTTTTCTCCTCTCCTCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655923	A A	AAAAGAGA others(15): Show AAAAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0021 a0001c0001t0018g0021	1	57	0.0175	22	c.207 others(41): Show c.2077+7966_2077+7967insAAGAGAGAGAGAGAGAGAGAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655941	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	41	0.0244	22	c.207 others(41): Show c.2077+7984_2077+7985insAAGAAAGAAAGAAAGAAAGAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644799	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	210	0.0048	22	c.264 others(37): Show c.264+430_264+451dupCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar

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