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
CNTN1_chr12_40687439_41077415	40830791	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03098.hp2 others(1): Show HG01884.hp1 HG03041.hp1 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0003 a0001c0004t0007 a0001c0001t0004 a0001c0004t0003 a0001c0004t0007	a0001c0001t0004g0168 a0001c0004t0003g0166 a0001c0004t0003g0169 others(1): Show a0001c0001t0004g0168 a0001c0004t0003g0166 a0001c0004t0003g0169 a0001c0004t0007g0057	4	65	0.0615	-26	c.-76 others(45): Show c.-76-77547_-76-77522delTATATATATATATATATATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41056918	AATATTTA others(19): Show AATATTTAGATATTTATAAATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0021 a0001c0012t0021	a0001c0012t0021g0203 a0001c0012t0021g0203	1	228	0.0044	-26	c.298 others(47): Show c.2981-13039_2981-13014delTATTTAGATATTTATAAATATTTA TA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74285790	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG03041.hp2 others(4): Show HG02257.hp2 HG02622.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 NA18906.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0022 a0001c0001 a0001c0002 a0008c0022	a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0001c0002t0013 a0001c0002t0018 a0001c0002t0023 a0008c0022t0002	a0001c0001t0002g0079 a0001c0001t0009g0083 a0001c0001t0014g0011 others(4): Show a0001c0001t0002g0079 a0001c0001t0009g0083 a0001c0001t0014g0011 a0001c0002t0013g0073 a0001c0002t0018g0002 a0001c0002t0023g0084 a0008c0022t0002g0050	7	50	0.1400	-26	c.251 others(43): Show c.2518-325_2518-300delATATATATATATATATATATATATAT	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	19/22			chr3	TogoVar
CNTN3_chr3_74257568_74619659	74344396	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02897.hp2 others(3): Show HG02258.hp2 HG02280.hp1 HG02897.hp2 HG03139.hp1 HG03471.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0019 others(2): Show a0001c0001 a0001c0002 a0001c0019 a0003c0003 a0003c0007	a0001c0001t0004 a0001c0001t0025 a0001c0002t0003 others(3): Show a0001c0001t0004 a0001c0001t0025 a0001c0002t0003 a0001c0019t0015 a0003c0003t0002 a0003c0007t0004	a0001c0001t0004g0138 a0001c0001t0025g0095 a0001c0002t0003g0013 others(3): Show a0001c0001t0004g0138 a0001c0001t0025g0095 a0001c0002t0003g0013 a0001c0019t0015g0135 a0003c0003t0002g0078 a0003c0007t0004g0131	6	57	0.1053	-26	c.136 others(45): Show c.1365-7764_1365-7739delAAAAAAAAAAAAAAAAAAAAAAAAAC	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2549089	GTTTCTAA others(19): Show GTTTCTAAATATACAATCATGTCGGGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG02602.hp2 others(1): Show HG00738.hp2 HG01261.hp1 HG02602.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0007t0004	a0001c0001t0005g0054 a0001c0002t0001g0029 a0001c0003t0001g0028 others(1): Show a0001c0001t0005g0054 a0001c0002t0001g0029 a0001c0003t0001g0028 a0001c0007t0004g0066	4	116	0.0345	-26	c.-88 others(45): Show c.-88-22304_-88-22279delGGGTTTTCTAAATATACAATCATGTC	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99284600	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18939.hp2 NA18957.hp2 others(1): Show HG01099.hp1 NA18939.hp2 NA18957.hp2 NA19000.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0001 a0003c0003 a0005c0004 others(1): Show a0001c0001 a0003c0003 a0005c0004 a0010c0007	a0001c0001t0004 a0003c0003t0002 a0005c0004t0002 others(1): Show a0001c0001t0004 a0003c0003t0002 a0005c0004t0002 a0010c0007t0023	a0001c0001t0004g0011 a0003c0003t0002g0002 a0005c0004t0002g0001 others(1): Show a0001c0001t0004g0011 a0003c0003t0002g0002 a0005c0004t0002g0001 a0010c0007t0023g0046	4	6	0.6667	-26	c.-20 others(47): Show c.-209-40710_-209-40685delTGTGTGTGTGTGTGTGTGTGTGTG TG	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99408428	AAAAGAAA others(19): Show AAAAGAAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02735.hp1 HG03471.hp1 HG01099.hp1 HG02735.hp1 HG03471.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0004 a0001c0001t0006 a0009c0008t0007 a0001c0001t0004 a0001c0001t0006 a0009c0008t0007	a0001c0001t0004g0011 a0001c0001t0006g0032 a0009c0008t0007g0038 a0001c0001t0004g0011 a0001c0001t0006g0032 a0009c0008t0007g0038	3	58	0.0517	-26	c.-71 others(45): Show c.-71+82966_-71+82991delGAAAGAAAGAAAGAAAGAAAGAAAGA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99812995	CTGGTAAA others(19): Show CTGGTAAAATCTTACCAATTTACCAAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG00738.hp2 others(7): Show HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01496.hp1 HG02886.hp2 HG02895.hp2 HG03471.hp1 NA18522.hp1 NA19070.hp1	a0002 a0005 a0009 a0002 a0005 a0009	a0002c0002 a0005c0004 a0009c0008 a0002c0002 a0005c0004 a0009c0008	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0021 a0002c0002t0022 a0005c0004t0002 a0005c0004t0013 a0005c0004t0020 a0009c0008t0007	a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 others(7): Show a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0007 a0002c0002t0021g0055 a0002c0002t0022g0010 a0005c0004t0002g0041 a0005c0004t0013g0050 a0005c0004t0020g0024 a0009c0008t0007g0038	10	66	0.1515	-26	c.56- others(41): Show c.56-6538_56-6513delTTACCAATTTACCAATTGGTAAAATC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99889291	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02132.hp1 NA18939.hp2 others(1): Show HG01123.hp2 HG02132.hp1 NA18939.hp2 NA19070.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0007 a0001c0001 a0003c0003 a0010c0007	a0001c0001t0014 a0001c0001t0016 a0003c0003t0002 others(1): Show a0001c0001t0014 a0001c0001t0016 a0003c0003t0002 a0010c0007t0023	a0001c0001t0014g0016 a0001c0001t0016g0049 a0003c0003t0002g0015 others(1): Show a0001c0001t0014g0016 a0001c0001t0016g0049 a0003c0003t0002g0015 a0010c0007t0023g0046	4	10	0.4000	-26	c.578 others(45): Show c.578-26722_578-26697delGTGTGTGTGTGTGTGTGTGTGTGTGT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1098781	CACACACA others(19): Show CACACACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0203 a0001c0005t0001g0203	1	229	0.0044	-26	c.-83 others(43): Show c.-83+5663_-83+5688delCACACACATATATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1300579	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02451.hp1 others(3): Show HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02965.hp2 HG03453.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0006 a0004c0016 a0001c0005 a0001c0006 a0004c0016	a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 others(2): Show a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0006t0004 a0004c0016t0001	a0001c0005t0001g0193 a0001c0005t0004g0194 a0001c0006t0001g0184 others(3): Show a0001c0005t0001g0193 a0001c0005t0004g0194 a0001c0006t0001g0184 a0001c0006t0004g0111 a0004c0016t0001g0002 a0004c0016t0001g0003	6	230	0.0261	-26	c.761 others(43): Show c.761+2592_761+2617delAAGAAAGAAAGAAAGAAAGAAAGAGA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146151682	GTATATAT others(19): Show GTATATATATATATATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0005 a0001c0005t0008g0005	1	36	0.0278	-26	c.97+ others(43): Show c.97+34715_97+34740delATATATATATGTATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146395805	ATAGATAG others(19): Show ATAGATAGATAGATAGATAGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0027 a0001c0009t0019g0027	1	40	0.0250	-26	c.97+ others(45): Show c.97+278833_97+278858delTAGATAGATAGATAGATAGAGGAGAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146457481	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 NA18522.hp1 HG02717.hp1 HG03225.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0001c0018 a0002c0017 a0001c0013 a0001c0018 a0002c0017	a0001c0013t0003 a0001c0018t0002 a0002c0017t0015 a0001c0013t0003 a0001c0018t0002 a0002c0017t0015	a0001c0013t0003g0039 a0001c0018t0002g0012 a0002c0017t0015g0037 a0001c0013t0003g0039 a0001c0018t0002g0012 a0002c0017t0015g0037	3	4	0.7500	-26	c.98- others(45): Show c.98-316760_98-316735delTATATATATATATATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146483282	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0002c0017 a0001c0018 a0002c0017	a0001c0018t0002 a0002c0017t0015 a0001c0018t0002 a0002c0017t0015	a0001c0018t0002g0012 a0002c0017t0015g0037 a0001c0018t0002g0012 a0002c0017t0015g0037	2	29	0.0690	-26	c.98- others(45): Show c.98-290967_98-290942delTATATATATATATATATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146759681	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02717.hp1 others(11): Show HG02451.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 NA18522.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0023 a0001c0004t0003 a0001c0005t0008 a0001c0008t0001 a0001c0009t0019 a0001c0010t0002 a0001c0012t0004 a0001c0013t0003 a0001c0015t0001 a0002c0017t0015	a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0002t0001g0008 others(11): Show a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0002t0001g0008 a0001c0003t0023g0030 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0005t0008g0005 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0010t0002g0014 a0001c0012t0004g0026 a0001c0013t0003g0039 a0001c0015t0001g0011 a0002c0017t0015g0037	14	19	0.7368	-26	c.98- others(43): Show c.98-14585_98-14560delAAAAAAAAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146947553	GTGTGTAT others(19): Show GTGTGTATATATATATATATATACATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0017 a0001c0003t0020g0017	1	34	0.0294	-26	c.403 others(45): Show c.403-96352_403-96327delGTGTATATATATATATATATACATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147104873	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03139.hp2 others(2): Show HG01891.hp2 HG02922.hp2 HG03139.hp2 HG03239.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0005c0007	a0001c0001t0001 a0001c0001t0006 a0001c0004t0005 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0005 a0001c0011t0016 a0005c0007t0017	a0001c0001t0001g0038 a0001c0001t0006g0009 a0001c0004t0005g0004 others(2): Show a0001c0001t0001g0038 a0001c0001t0006g0009 a0001c0004t0005g0004 a0001c0011t0016g0019 a0005c0007t0017g0031	5	12	0.4167	-26	c.551 others(43): Show c.551-3255_551-3230delATATATATATATATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147301592	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0028 a0001c0006t0009g0028	1	10	0.1000	-26	c.149 others(45): Show c.1498+1330_1498+1355delGTGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147775312	TATATATA others(19): Show TATATATATATTTATATATATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0017 a0001c0003t0020g0017	1	40	0.0250	-26	c.209 others(49): Show c.2099-128216_2099-128191delTTATATATATTTATAAATATAT ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147784494	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0016 a0001c0002t0001 a0001c0011t0016	a0001c0002t0001g0007 a0001c0011t0016g0019 a0001c0002t0001g0007 a0001c0011t0016g0019	2	5	0.4000	-26	c.209 others(49): Show c.2099-119040_2099-119015delATATATATATATATATATATAT ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147902788	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp2 NA18522.hp1 HG02922.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0012 a0001c0003t0004 a0001c0013t0003 a0001c0001t0012 a0001c0003t0004 a0001c0013t0003	a0001c0001t0012g0034 a0001c0003t0004g0029 a0001c0013t0003g0039 a0001c0001t0012g0034 a0001c0003t0004g0029 a0001c0013t0003g0039	3	40	0.0750	-26	c.209 others(43): Show c.2099-751_2099-726delATGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3_chr9_39059710_39293167	39217358	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0004 a0003c0001t0002g0004	1	2	0.5000	-26	c.390 others(45): Show c.390+21609_390+21634delTATATATATATATATATATATATATA	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76376907	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0173 a0002c0005t0004g0173	1	37	0.0270	-26	c.390 others(45): Show c.390+21418_390+21443delGTGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(19): Show TTATATACATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00741.hp1 others(20): Show HG00438.hp1 HG00597.hp1 HG00741.hp1 HG02132.hp1 HG02615.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp1 NA18944.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0014 a0023 a0025	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0004c0010 a0005c0008 a0014c0036 a0023c0020 a0025c0032	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0004t0001 a0001c0004t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0004c0010t0002 a0005c0008t0003 a0014c0036t0004 a0023c0020t0009 a0025c0032t0001	a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0119 others(20): Show a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0003g0180 a0001c0001t0012g0179 a0001c0004t0001g0030 a0001c0004t0001g0074 a0001c0004t0001g0082 a0001c0004t0001g0107 a0001c0004t0001g0137 a0001c0004t0001g0165 a0001c0004t0003g0084 a0002c0002t0002g0115 a0002c0002t0004g0109 a0002c0002t0004g0153 a0002c0002t0005g0178 a0004c0010t0002g0085 a0004c0010t0002g0086 a0005c0008t0003g0152 a0014c0036t0004g0248 a0023c0020t0009g0103 a0025c0032t0001g0013	23	95	0.2421	-26	c.391 others(45): Show c.391-29507_391-29482delCATATATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(19): Show CCTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0070 a0002c0005t0002g0070	1	141	0.0071	-26	c.275 others(43): Show c.2755+430_2755+455delCTTTCTTTTCTTTTCTTTTCTTTTCT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23			chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124431547	TATTATAT others(19): Show TATTATATATAATTTCTTTATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02970.hp2 others(1): Show HG02257.hp2 HG02451.hp2 HG02970.hp2 HG03130.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0003 a0001c0001 a0001c0002 a0005c0003	a0001c0001t0005 a0001c0001t0013 a0001c0002t0007 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0002t0007 a0005c0003t0008	a0001c0001t0005g0041 a0001c0001t0013g0042 a0001c0002t0007g0028 others(1): Show a0001c0001t0005g0041 a0001c0001t0013g0042 a0001c0002t0007g0028 a0005c0003t0008g0036	4	40	0.1000	-26	c.530 others(43): Show c.530-2833_530-2808delCATTATATATAATTTCTTTATATAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp2 HG02886.hp1 others(4): Show HG01069.hp2 HG02451.hp2 HG02886.hp1 HG03139.hp2 HG03453.hp1 HG03704.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0003g0006 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0001t0015g0037 a0001c0002t0003g0004 a0001c0002t0007g0028	7	9	0.7778	-26	c.207 others(47): Show c.2078-44858_2078-44833delTTTTTTTTTTTTTTTTTTTTTTTT TT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805315	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18946.hp2 NA18963.hp2 others(2): Show HG00735.hp2 NA18946.hp2 NA18963.hp2 NA18970.hp2 NA19079.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0005c0029 a0001c0002 a0005c0006 a0005c0029	a0001c0002t0001 a0005c0006t0001 a0005c0029t0016 a0001c0002t0001 a0005c0006t0001 a0005c0029t0016	a0001c0002t0001g0202 a0005c0006t0001g0002 a0005c0006t0001g0204 others(1): Show a0001c0002t0001g0202 a0005c0006t0001g0002 a0005c0006t0001g0204 a0005c0029t0016g0203	5	197	0.0254	-26	c.41+ others(43): Show c.41+35815_41+35840delTATAGAGAGAGAGAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805317	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0020 a0020	a0020c0028 a0020c0028	a0020c0028t0016 a0020c0028t0016	a0020c0028t0016g0205 a0020c0028t0016g0205	1	196	0.0051	-26	c.41+ others(43): Show c.41+35813_41+35838delTATATAGAGAGAGAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818272	GTATGTAT others(19): Show GTATGTATACATATATGTATGTATACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG01884.hp1 HG00099.hp2 HG01361.hp2 HG01884.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0087 a0002c0003t0003g0085 a0002c0003t0003g0086 a0001c0001t0001g0087 a0002c0003t0003g0085 a0002c0003t0003g0086	3	178	0.0169	-26	c.41+ others(43): Show c.41+22858_41+22883delTGTATACATACATATATGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164822726	ATTATATT others(19): Show ATTATATTATATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0186 a0001c0002t0011g0186	1	164	0.0061	-26	c.41+ others(43): Show c.41+18404_41+18429delATAATAATAATAATAATATAATATAA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51108932	ACACACAC others(19): Show ACACACACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0017 a0002c0004t0007g0017	1	228	0.0044	-26	c.958 others(45): Show c.958-23654_958-23629delGGTGTGTGTGTGTGTGTGTGTGTGTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COG1_chr17_73188055_73213507	73192830	CCGCGCCC others(19): Show CCGCGCCCGCGCCCGCCCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG03471.hp1 others(8): Show HG02109.hp1 HG02896.hp1 HG03471.hp1 HG03942.hp2 NA18943.hp2 NA18948.hp2 NA18968.hp1 NA18990.hp2 NA18991.hp1 NA19091.hp2 NA20129.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0001 a0002c0006t0001 a0002c0001t0001 a0002c0006t0001	a0002c0001t0001g0004 a0002c0001t0001g0007 a0002c0001t0001g0010 others(3): Show a0002c0001t0001g0004 a0002c0001t0001g0007 a0002c0001t0001g0010 a0002c0001t0001g0022 a0002c0001t0001g0053 a0002c0006t0001g0031	11	408	0.0270	-26	c.-23 others(35): Show c.-239_-214delCGCGCCCGCGCCCGCCCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		224		chr17	TogoVar
COG3_chr13_45459939_45541701	45513348	TATATAAT others(19): Show TATATAATATATACATATAAATTATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00642.hp1 others(8): Show HG00280.hp1 HG00597.hp1 HG00642.hp1 HG01257.hp1 HG02015.hp2 HG02818.hp1 HG03669.hp1 HG04228.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0010 a0002c0004t0001 a0002c0004t0010	a0002c0004t0001g0002 a0002c0004t0001g0011 a0002c0004t0001g0012 others(6): Show a0002c0004t0001g0002 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0019 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0010g0027	11	328	0.0335	-26	c.180 others(45): Show c.1809+1546_1809+1571delCATATAATATATACATATAAATTATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A1_chr1_102871473_103113522	103027396	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02257.hp2 others(15): Show HG01109.hp1 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0008 a0001c0009 a0003c0026 others(2): Show a0001c0008 a0001c0009 a0003c0026 a0004c0012 a0005c0010	a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 others(3): Show a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 a0003c0026t0002 a0004c0012t0003 a0005c0010t0001	a0001c0008t0006g0001 a0001c0008t0006g0002 a0001c0008t0006g0003 others(15): Show a0001c0008t0006g0001 a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0005 a0001c0008t0006g0006 a0001c0009t0001g0008 a0001c0009t0007g0055 a0001c0009t0007g0056 a0001c0009t0007g0057 a0003c0026t0002g0049 a0004c0012t0003g0010 a0004c0012t0003g0011 a0004c0012t0003g0012 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053	18	33	0.5455	-26	c.781 others(43): Show c.781-1090_781-1065delATATATATATATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	5/66			chr1	TogoVar
COL14A1_chr8_120120102_120378573	120166875	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	42	0.0238	-26	c.350 others(43): Show c.350-1264_350-1239delTGTGTGTGTGTGTGTGTGTGTGTGTG	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL19A1_chr6_69861556_70217468	69921722	ATATATTC others(19): Show ATATATTCGTATGTAGATTCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02109.hp2 HG02622.hp1 others(7): Show HG00408.hp2 HG02109.hp2 HG02622.hp1 HG02717.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0002c0009 a0009c0019	a0001c0001t0006 a0001c0005t0007 a0002c0003t0018 others(5): Show a0001c0001t0006 a0001c0005t0007 a0002c0003t0018 a0002c0004t0001 a0002c0004t0006 a0002c0004t0019 a0002c0009t0004 a0009c0019t0001	a0001c0001t0006g0107 a0001c0005t0007g0182 a0002c0003t0018g0138 others(7): Show a0001c0001t0006g0107 a0001c0005t0007g0182 a0002c0003t0018g0138 a0002c0004t0001g0013 a0002c0004t0006g0108 a0002c0004t0006g0109 a0002c0004t0019g0011 a0002c0009t0004g0067 a0002c0009t0004g0129 a0009c0019t0001g0106	10	180	0.0556	-26	c.267 others(43): Show c.267-6109_267-6084delGTATATTCGTATGTAGATTCGTATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56130165	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01192.hp1 others(10): Show HG00099.hp1 HG00735.hp2 HG01192.hp1 HG01257.hp2 HG01496.hp2 HG01943.hp2 HG03942.hp2 NA18939.hp2 NA18956.hp2 NA18971.hp2 NA18981.hp2 NA19005.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0006 a0001c0001 a0003c0005 a0003c0006	a0001c0001t0014 a0003c0005t0007 a0003c0005t0014 others(1): Show a0001c0001t0014 a0003c0005t0007 a0003c0005t0014 a0003c0006t0007	a0001c0001t0014g0087 a0003c0005t0007g0119 a0003c0005t0007g0121 others(10): Show a0001c0001t0014g0087 a0003c0005t0007g0119 a0003c0005t0007g0121 a0003c0005t0007g0199 a0003c0005t0007g0201 a0003c0005t0007g0202 a0003c0005t0007g0250 a0003c0005t0014g0035 a0003c0006t0007g0198 a0003c0006t0007g0200 a0003c0006t0007g0203 a0003c0006t0007g0204 a0003c0006t0007g0205	13	141	0.0922	-26	c.154 others(45): Show c.1543-4042_1543-4017delTATATATATATATATATATATATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56130186	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18979.hp1 NA19074.hp1 HG06807.hp2 NA18979.hp1 NA19074.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0001 a0011c0021t0020 a0001c0001t0001 a0011c0021t0020	a0001c0001t0001g0162 a0001c0001t0001g0215 a0011c0021t0020g0095 a0001c0001t0001g0162 a0001c0001t0001g0215 a0011c0021t0020g0095	3	262	0.0115	-26	c.154 others(45): Show c.1543-4063_1543-4038delTTATATATATATATATATATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56206693	AATAAATA others(19): Show AATAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01169.hp2 others(3): Show HG00741.hp1 HG01167.hp2 HG01169.hp2 HG02965.hp1 HG03471.hp1 NA18522.hp1	a0001 a0010 a0001 a0010	a0001c0007 a0001c0024 a0010c0023 a0001c0007 a0001c0024 a0010c0023	a0001c0007t0002 a0001c0007t0004 a0001c0024t0022 others(1): Show a0001c0007t0002 a0001c0007t0004 a0001c0024t0022 a0010c0023t0010	a0001c0007t0002g0260 a0001c0007t0002g0261 a0001c0007t0004g0065 others(3): Show a0001c0007t0002g0260 a0001c0007t0002g0261 a0001c0007t0004g0065 a0001c0007t0004g0077 a0001c0024t0022g0147 a0010c0023t0010g0011	6	57	0.1053	-26	c.-38 others(45): Show c.-38-24063_-38-24038delATATATATATATATATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56211163	GTATATGT others(19): Show GTATATGTATATATACATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp1 HG01346.hp2 others(2): Show HG01071.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG02572.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0006c0011 others(1): Show a0001c0001 a0001c0002 a0006c0011 a0009c0012	a0001c0001t0003 a0001c0002t0002 a0006c0011t0004 others(1): Show a0001c0001t0003 a0001c0002t0002 a0006c0011t0004 a0009c0012t0004	a0001c0001t0003g0092 a0001c0002t0002g0196 a0006c0011t0004g0090 others(2): Show a0001c0001t0003g0092 a0001c0002t0002g0196 a0006c0011t0004g0090 a0006c0011t0004g0091 a0009c0012t0004g0030	5	262	0.0191	-26	c.-38 others(45): Show c.-38-28533_-38-28508delTACATATATATGTATATATACATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138625325	TCAAAAAA others(19): Show TCAAAAAAAAATCCAGTGTGGCTGGAA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0123 a0002c0004t0001g0123	1	156	0.0064	-26	c.371 others(43): Show c.3717+839_3717+864delTTCCAGCCACACTGGATTTTTTTTTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	51/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138664209	GCACACAC others(19): Show GCACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0088 a0001c0008t0002g0088	1	90	0.0111	-26	c.315 others(43): Show c.3151-495_3151-470delTGTGTGTGTGTGTGTGTGTGTGTGTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138865776	AGTGTATG others(19): Show AGTGTATGTTTGTATGCCTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18944.hp1 HG03139.hp1 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0056 a0002c0007 a0001c0056 a0002c0007	a0001c0056t0004 a0002c0007t0001 a0001c0056t0004 a0002c0007t0001	a0001c0056t0004g0040 a0002c0007t0001g0082 a0001c0056t0004g0040 a0002c0007t0001g0082	2	156	0.0128	-26	c.658 others(45): Show c.658+11948_658+11973delACACACACAGGCATACAAACATACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	3/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178498205	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03209.hp2 HG01358.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0008 a0002c0002t0001 a0002c0003t0008	a0002c0002t0001g0040 a0002c0003t0008g0231 a0002c0002t0001g0040 a0002c0003t0008g0231	2	36	0.0556	-26	c.361 others(45): Show c.361+62451_361+62476delATATATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547189	CCCGACAG others(19): Show CCCGACAGTATCTGATTCACGCCAGCA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	236	0.0042	-26	c.361 others(45): Show c.361+13467_361+13492delTGCTGGCGTGAATCAGATACTGTCGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL25A1_chr4_108803725_109307658	109254469	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 NA19030.hp2 HG01243.hp1 HG02922.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0119 a0001c0001t0002g0118 a0001c0002t0001g0052 a0001c0001t0001g0119 a0001c0001t0002g0118 a0001c0002t0001g0052	3	39	0.0769	-26	c.367 others(45): Show c.367+46088_367+46113delTATATATATATATATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254481	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	130	0.0077	-26	c.367 others(45): Show c.367+46076_367+46101delCATATATATATATATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(19): Show TTCATTCTTTCTTTCTCTCTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0028 a0006c0019t0028	a0006c0019t0028g0141 a0006c0019t0028g0141	1	115	0.0087	-26	c.385 others(45): Show c.385+41927_385+41952delATTCTTTCTTTCTCTCTCTCTTTCTC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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