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
C3orf70_chr3_185071838_185158060	185091943	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0161 a0001c0001t0007g0162	2	381	0.0052	-29	c.197 others(46): Show c.197-8409_197-8381delAAAAAAAAATATATATATATATATATAT A	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C3orf70_chr3_185071838_185158060	185145960	ATTCTCTA others(22): Show ATTCTCTATCTCTGGAAGAACCTATCAGCT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02717.hp2 HG03041.hp2 others(4): Show HG00735.hp1 HG02717.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp1 NA18522.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0078 a0001c0003t0019 a0003c0004t0016 a0001c0001t0078 a0001c0003t0019 a0003c0004t0016	a0001c0001t0078g0022 a0001c0003t0019g0345 a0001c0003t0019g0346 others(4): Show a0001c0001t0078g0022 a0001c0003t0019g0345 a0001c0003t0019g0346 a0001c0003t0019g0347 a0003c0004t0016g0020 a0003c0004t0016g0021 a0003c0004t0016g0342	7	386	0.0181	-29	c.196 others(46): Show c.196+6639_196+6667delAGCTGATAGGTTCTTCCAGAGATAGAGA A	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C4orf19_chr4_37448925_37598510	37585193	GGAGGAGA others(22): Show GGAGGAGAGGTATTGAGGGAGGGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG00733.hp2 others(21): Show HG00544.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01192.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02129.hp2 HG02293.hp1 HG02723.hp1 HG02970.hp1 HG03654.hp2 HG03927.hp2 HG04115.hp1 NA18612.hp1 NA18964.hp2 NA18977.hp2 NA18987.hp2 NA18995.hp2 NA19000.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0005c0009t0047	a0001c0001t0001g0098 a0001c0001t0003g0116 a0001c0001t0003g0139 others(21): Show a0001c0001t0001g0098 a0001c0001t0003g0116 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0091 a0001c0001t0006g0099 a0001c0001t0006g0195 a0001c0001t0006g0201 a0001c0001t0006g0230 a0001c0001t0006g0283 a0001c0001t0006g0322 a0001c0001t0010g0033 a0001c0001t0010g0041 a0001c0001t0010g0103 a0001c0001t0010g0242 a0001c0001t0010g0341 a0001c0001t0016g0079 a0001c0001t0016g0150 a0001c0001t0016g0179 a0001c0001t0017g0326 a0005c0009t0047g0275	24	351	0.0684	-29	c.-22 others(46): Show c.-22-3584_-22-3556delATTGAGGGAGGGGAGGGGAGAGGAGAGG T	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585284	GAGAGGTG others(22): Show GAGAGGTGTTGAGGGAGAGGAGGGGAGATC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03516.hp1 HG01928.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0232 a0001c0001t0001g0130 a0001c0001t0001g0232	2	344	0.0058	-29	c.-22 others(46): Show c.-22-3534_-22-3506delTCAGAGGTGTTGAGGGAGAGGAGGGGAG A	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585407	GTTGAGGG others(22): Show GTTGAGGGAGGGGAGGGTAGAGGAGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18612.hp1 HG01069.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0098 a0001c0001t0006g0099 a0001c0001t0001g0098 a0001c0001t0006g0099	2	346	0.0058	-29	c.-22 others(46): Show c.-22-3422_-22-3394delTAGAGGAGAGGTATTGAGGGAGGGGAGG G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585492	GTATTGAG others(22): Show GTATTGAGGGAGGGGAGGGGAGAGGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0305 a0002c0002t0004g0305	1	334	0.0030	-29	c.-22 others(46): Show c.-22-3352_-22-3324delATTGAGGGAGGGGAGGGGAGAGGAGAAA T	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585534	GGAGGGGA others(22): Show GGAGGGGAGAGGAGAGGTGTTGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03516.hp1 HG02074.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0130 a0002c0002t0004g0305 a0001c0001t0001g0130 a0002c0002t0004g0305	2	347	0.0058	-29	c.-22 others(46): Show c.-22-3287_-22-3259delAAGGAGAGGGGAGAGGAGAGGTGTTGAG G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585599	AGAGGAGA others(22): Show AGAGGAGAGGTGTTGAGGAAGGAGAGGGGT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0139 a0001c0001t0003g0140	2	352	0.0057	-29	c.-22 others(46): Show c.-22-3229_-22-3201delAAGGAGAGGGGTGAGGAGAGGTGTTGAG G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C7orf33_chr7_148585766_148620860	148616894	ACCCTCCC others(22): Show ACCCTCCCTCAACACACGGGAATTACAGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02258.hp1 HG02723.hp2 others(3): Show HG01074.hp2 HG02258.hp1 HG02723.hp2 HG03195.hp2 HG03579.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0005t0006 a0004c0005t0009	a0001c0001t0001g0026 a0001c0001t0002g0005 a0001c0001t0004g0354 others(3): Show a0001c0001t0001g0026 a0001c0001t0002g0005 a0001c0001t0004g0354 a0004c0005t0006g0112 a0004c0005t0006g0339 a0004c0005t0009g0338	6	382	0.0157	-29	c.14 others(40): Show c.1494_*1522delCCCTCCCTCAACACACGGGAATTACAGAT	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1035		chr7	TogoVar
C7orf33_chr7_148585766_148620860	148616992	ACACACGG others(22): Show ACACACGGGAATTACAGATCCCTCCCTCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 NA21309.hp2 HG00733.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0204 a0001c0001t0002g0135 a0001c0001t0002g0204	2	411	0.0049	-29	c.15 others(40): Show c.1592_*1620delCACACGGGAATTACAGATCCCTCCCTCAG	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1133		chr7	TogoVar
C7orf33_chr7_148585766_148620860	148617018	TCAGCACA others(22): Show TCAGCACACGGGAATTACAGATCCCTCCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	284	0.0035	-29	c.16 others(40): Show c.1618_*1646delCAGCACACGGGAATTACAGATCCCTCCCG	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1159		chr7	TogoVar
C7orf50_chr7_992006_1143247	1006421	GCACGACG others(22): Show GCACGACGGCCACAGCGCAGGGAAAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0019 a0001c0001t0022g0019	1	324	0.0031	-29	c.323 others(46): Show c.323+3500_323+3528delTGCTCTTTCCCTGCGCTGTGGCCGTCGT G	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1006508	GCACGACG others(22): Show GCACGACGGCCATACTGCAGGGAAAGAGCA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0164 a0001c0001t0007g0164	1	324	0.0031	-29	c.323 others(46): Show c.323+3413_323+3441delTGCTCTTTCCCTGCAGTATGGCCGTCGT G	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1006523	TGCAGGGA others(22): Show TGCAGGGAAAGAGCACACGACGGCCACAGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp2 NA19030.hp2 others(1): Show HG02109.hp1 HG02809.hp2 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0209 a0001c0001t0015g0231 a0001c0001t0015g0316 others(1): Show a0001c0001t0002g0209 a0001c0001t0015g0231 a0001c0001t0015g0316 a0001c0001t0015g0317	4	324	0.0123	-29	c.323 others(46): Show c.323+3398_323+3426delGCTGTGGCCGTCGTGTGCTCTTTCCCTG C	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1020964	GCCTCCAG others(22): Show GCCTCCAGGCTGGGGACCTTCAGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG02055.hp1 others(20): Show HG01081.hp2 HG01884.hp1 HG02055.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0003 a0002c0002t0018	a0001c0001t0001g0100 a0001c0001t0003g0205 a0001c0001t0003g0206 others(20): Show a0001c0001t0001g0100 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0243 a0001c0001t0003g0269 a0001c0001t0003g0281 a0001c0001t0007g0141 a0002c0002t0003g0278 a0002c0002t0003g0288 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0319 a0002c0002t0003g0320 a0002c0002t0018g0202 a0002c0002t0018g0203	23	324	0.0710	-29	c.130 others(48): Show c.130-10850_130-10822delTACCTGCCTGAAGGTCCCCAGCCTGG AGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1030732	GGGGGACT others(22): Show GGGGGACTCTCTCTCTCTCCCGGGGCACGC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03516.hp2 HG02083.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0063 a0001c0001t0014g0173 a0001c0001t0001g0063 a0001c0001t0014g0173	2	324	0.0062	-29	c.130 others(48): Show c.130-20618_130-20590delGCGTGCCCCGGGAGAGAGAGAGAGTC CCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1131130	GCAGTGAG others(22): Show GCAGTGAGCCATGACTGTACCACTGCACTC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG02280.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0118 a0001c0001t0010g0119 a0001c0001t0007g0118 a0001c0001t0010g0119	2	324	0.0062	-29	c.-1- others(44): Show c.-1-3773_-1-3745delGAGTGCAGTGGTACAGTCATGGCTCACTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051788	TTCTTTCT others(22): Show TTCTTTCTTTCCTTCCTTCCTTTTCTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp1 HG02132.hp1 others(2): Show HG01496.hp1 HG01981.hp1 HG02132.hp1 HG02300.hp1 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0203 a0002c0001t0001g0033 a0002c0001t0001g0232 others(1): Show a0001c0002t0001g0203 a0002c0001t0001g0033 a0002c0001t0001g0232 a0002c0001t0001g0235	5	402	0.0124	-29	c.606 others(44): Show c.606-901_606-873delCTTCCTTCCTTTTCTCTTCTCTTTCTTTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C8orf89_chr8_73236331_73264530	73240126	TGGAGGTC others(22): Show TGGAGGTCCACTCCAGACCCTGTTTTCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	342	0.0029	-29	c.13 others(40): Show c.1302_*1330delCAGGAAAACAGGGTCTGGAGTGGACCTCC	C8orf89	ENSG00000274443.5	transcript	ENST00000624510.4	protein_coding		1204		chr8	TogoVar
C9orf24_chr9_34374019_34402810	34385552	AAAAAAAA others(22): Show AAAAAAAAAGGATAGAGGTCACGATCCAGG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	448	0.0022	-29	c.280 others(42): Show c.280+56_280+84delCCTGGATCGTGACCTCTATCCTTTTTTTT	C9orf24	ENSG00000164972.14	transcript	ENST00000297623.7	protein_coding	2/6			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49440935	AGCCAAGA others(22): Show AGCCAAGAGAGATAGTCTGACTTCTTTTCC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	322	0.0031	-29	c.-24 others(48): Show c.-246+3022_-246+3050delGGAAAAGAAGTCAGACTATCTCTCTT GGC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CABS1_chr4_70329981_70342116	70334328	TGAAAAAA others(22): Show TGAAAAAAAAAAAAACAAAAAACAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02523.hp1 NA19003.hp2 HG02109.hp1 HG02523.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0002 a0001c0001t0001g0009 a0001c0001t0002g0002	3	444	0.0068	-29	c.-71 others(38): Show c.-711_-683delGAAAAAAAAAAAAACAAAAAACAAAAAAA	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding		652		chr4	TogoVar
CACNA1A_chr19_13201442_13511479	13346640	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp2 HG02895.hp1 HG01496.hp1 HG01978.hp2 HG02895.hp1	a0005 a0027 a0034 a0005 a0027 a0034	a0005c0022 a0027c0067 a0034c0081 a0005c0022 a0027c0067 a0034c0081	a0005c0022t0001 a0027c0067t0002 a0034c0081t0008 a0005c0022t0001 a0027c0067t0002 a0034c0081t0008	a0005c0022t0001g0108 a0027c0067t0002g0172 a0034c0081t0008g0152 a0005c0022t0001g0108 a0027c0067t0002g0172 a0034c0081t0008g0152	3	207	0.0145	-29	c.979 others(48): Show c.979-10760_979-10732delAAATATATATATATATATATATATAT ATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346642	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03831.hp2 HG04204.hp1 others(1): Show HG03688.hp2 HG03831.hp2 HG04204.hp1 NA18968.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0026 a0006c0075 a0008c0011 others(1): Show a0001c0026 a0006c0075 a0008c0011 a0008c0121	a0001c0026t0014 a0006c0075t0002 a0008c0011t0002 others(1): Show a0001c0026t0014 a0006c0075t0002 a0008c0011t0002 a0008c0121t0002	a0001c0026t0014g0104 a0006c0075t0002g0185 a0008c0011t0002g0113 others(1): Show a0001c0026t0014g0104 a0006c0075t0002g0185 a0008c0011t0002g0113 a0008c0121t0002g0042	4	189	0.0212	-29	c.979 others(48): Show c.979-10762_979-10734delAAAAATATATATATATATATATATAT ATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346644	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01255.hp1 HG04204.hp2 others(1): Show HG00544.hp2 HG01255.hp1 HG04204.hp2 NA19012.hp2	a0002 a0015 a0037 others(1): Show a0002 a0015 a0037 a0043	a0002c0003 a0015c0087 a0037c0068 others(1): Show a0002c0003 a0015c0087 a0037c0068 a0043c0061	a0002c0003t0002 a0015c0087t0001 a0037c0068t0001 others(1): Show a0002c0003t0002 a0015c0087t0001 a0037c0068t0001 a0043c0061t0002	a0002c0003t0002g0056 a0015c0087t0001g0102 a0037c0068t0001g0171 others(1): Show a0002c0003t0002g0056 a0015c0087t0001g0102 a0037c0068t0001g0171 a0043c0061t0002g0106	4	198	0.0202	-29	c.979 others(48): Show c.979-10764_979-10736delAAAAAAATATATATATATATATATAT ATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406463	AATTATAT others(22): Show AATTATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG06807.hp2 others(1): Show HG01884.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2	a0003 a0004 a0003 a0004	a0003c0035 a0003c0084 a0004c0123 a0003c0035 a0003c0084 a0004c0123	a0003c0035t0002 a0003c0035t0011 a0003c0084t0002 others(1): Show a0003c0035t0002 a0003c0035t0011 a0003c0084t0002 a0004c0123t0001	a0003c0035t0002g0077 a0003c0035t0011g0005 a0003c0084t0002g0141 others(1): Show a0003c0035t0002g0077 a0003c0035t0011g0005 a0003c0084t0002g0141 a0004c0123t0001g0078	4	208	0.0192	-29	c.540 others(48): Show c.540-34713_540-34685delATATATATATATATATATATATATAT AAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497516	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0003 a0001c0072t0003	a0001c0072t0003g0212 a0001c0072t0003g0212	1	205	0.0049	-29	c.293 others(46): Show c.293+8387_293+8415delATATATATATATATATATATATATTTTT T	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0098 a0001c0098	a0001c0098t0001 a0001c0098t0001	a0001c0098t0001g0101 a0001c0098t0001g0101	1	193	0.0052	-29	c.293 others(46): Show c.293+8383_293+8411delATATATATATATATATATATATATATAT T	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA2D1_chr7_81941444_82448777	81961798	GTAATGAT others(22): Show GTAATGATTATAACAGTATATACAATTTCT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(115): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0008 a0001c0006t0013 a0001c0007t0003 a0001c0008t0001 a0002c0005t0002	a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0077 others(115): Show a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0002 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0005g0096 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0006g0093 a0001c0001t0006g0098 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0138 a0001c0001t0006g0142 a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0008g0023 a0001c0001t0008g0043 a0001c0001t0008g0073 a0001c0001t0008g0083 a0001c0001t0009g0065 a0001c0001t0009g0080 a0001c0001t0011g0028 a0001c0001t0011g0066 a0001c0001t0012g0127 a0001c0001t0015g0006 a0001c0001t0016g0019 a0001c0001t0017g0091 a0001c0001t0020g0115 a0001c0001t0021g0114 a0001c0001t0022g0119 a0001c0001t0023g0144 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0002g0095 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0118 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0010g0090 a0001c0002t0010g0092 a0001c0002t0019g0107 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0061 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0004t0003g0082 a0001c0004t0006g0103 a0001c0004t0008g0025 a0001c0006t0013g0069 a0001c0007t0003g0075 a0001c0008t0001g0004 a0002c0005t0002g0134	118	142	0.8310	-29	c.296 others(44): Show c.2966+67_2966+95delAGAAATTGTATATACTGTTATAATCATTA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	36/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54717770	GGTGTGTG others(22): Show GGTGTGTGTGCATGTGCGTGTGTGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01169.hp1 others(19): Show HG00639.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG02080.hp2 HG02300.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02970.hp2 HG03098.hp1 HG03471.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp2 NA19043.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0026 a0001c0033 a0001c0035 a0001c0036 a0001c0042	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0001c0009t0008 a0001c0010t0001 a0001c0011t0001 a0001c0026t0009 a0001c0033t0001 a0001c0035t0001 a0001c0036t0005 a0001c0042t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 others(19): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0002t0001g0012 a0001c0002t0001g0060 a0001c0005t0001g0052 a0001c0005t0001g0111 a0001c0008t0001g0074 a0001c0009t0008g0077 a0001c0010t0001g0065 a0001c0011t0001g0099 a0001c0026t0009g0073 a0001c0033t0001g0114 a0001c0035t0001g0049 a0001c0036t0005g0002 a0001c0042t0001g0078	22	115	0.1913	-29	c.116 others(50): Show c.1168-34821_1168-34793delTGCATGTGCGTGTGTGGTGTGCGT GTGTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18481202	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	200	0.0050	-29	c.334 others(48): Show c.334-17151_334-17123delATATATATATATATATATATATATAT ATT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481204	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	179	0.0056	-29	c.334 others(48): Show c.334-17149_334-17121delATATATATATATATATATATATATAT TTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481206	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0092 a0001c0001t0041g0092	1	187	0.0053	-29	c.334 others(48): Show c.334-17147_334-17119delATATATATATATATATATATATATTT TTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481202	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	300	0.0033	-29	c.172 others(48): Show c.172-17151_172-17123delATATATATATATATATATATATATAT ATT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481204	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	271	0.0037	-29	c.172 others(48): Show c.172-17149_172-17121delATATATATATATATATATATATATAT TTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481206	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0041 a0001c0001t0014g0041	1	283	0.0035	-29	c.172 others(48): Show c.172-17147_172-17119delATATATATATATATATATATATATTT TTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG4_chr17_66959707_67038398	66971228	GGAGGAGG others(22): Show GGAGGAGGGGTTTCCAGCCAGAAGAGCCTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02486.hp1 others(9): Show HG00735.hp1 HG02109.hp1 HG02486.hp1 HG02486.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03540.hp2 HG03834.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0043	a0001c0001t0001g0113 a0001c0001t0002g0015 a0001c0001t0002g0016 others(9): Show a0001c0001t0001g0113 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0025g0218 a0001c0001t0034g0117 a0001c0001t0035g0114 a0001c0001t0038g0115 a0001c0001t0043g0121	12	350	0.0343	-29	c.220 others(46): Show c.220+6157_220+6185delAGGAGGGGTTTCCAGCCAGAAGAGCCTT G	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG6_chr19_53986637_54017666	54009356	GGTTGCAG others(22): Show GGTTGCAGTGAGCTGAGATCATGTCACTGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG00741.hp2 others(34): Show HG00099.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02129.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG03831.hp1 NA18939.hp1 NA18947.hp2 NA18951.hp2 NA18956.hp2 NA18957.hp1 NA18966.hp2 NA18973.hp2 NA18975.hp2 NA18984.hp2 NA18987.hp2 NA18990.hp2 NA19007.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19078.hp2 NA19080.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0033 a0001c0001t0001g0306 a0001c0001t0001g0361 others(32): Show a0001c0001t0001g0033 a0001c0001t0001g0306 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0368 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0307 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0003g0006 a0001c0001t0003g0020 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0242 a0001c0001t0007g0360 a0001c0001t0007g0362 a0001c0001t0007g0366 a0001c0001t0007g0367 a0001c0001t0007g0369 a0001c0001t0007g0372 a0001c0001t0007g0373 a0001c0001t0007g0374 a0001c0001t0009g0078 a0001c0001t0009g0371 a0001c0001t0009g0375	37	428	0.0864	-29	c.545 others(46): Show c.545-2565_545-2537delGTTGCAGTGAGCTGAGATCATGTCACTG C	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85321110	ATATATAT others(22): Show ATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0012 a0001c0002t0011g0012	1	145	0.0069	-29	c.61+ others(48): Show c.61+361444_61+361472delATATATTTTTTTTTTTTTTTTTTTTT TTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321112	ATATATTT others(22): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0109 a0001c0003t0042g0109	1	136	0.0074	-29	c.61+ others(48): Show c.61+361446_61+361474delATATTTTTTTTTTTTTTTTTTTTTTT TTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122706076	TTTATATA others(22): Show TTTATATATTCAAGGAATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01175.hp2 HG01243.hp1 others(24): Show HG00609.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG02145.hp2 HG02280.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18953.hp1 NA18982.hp1 NA19030.hp2 NA19043.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0004 a0004c0008t0001	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0066 others(24): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0002g0006 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0054 a0001c0002t0001g0065 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0005g0036 a0001c0002t0007g0086 a0001c0003t0001g0125 a0001c0004t0002g0033 a0001c0004t0002g0049 a0001c0004t0002g0056 a0001c0005t0001g0087 a0001c0005t0001g0126 a0001c0005t0004g0072 a0004c0008t0001g0092	27	123	0.2195	-29	c.453 others(48): Show c.453+30850_453+30878delGCATATATATATATTCCTTGAATATA TAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122706286	AATATATA others(22): Show AATATATATATGCTTATATATTCAAGGAAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	45	0.0222	-29	c.453 others(48): Show c.453+30640_453+30668delATTCCTTGAATATATAAGCATATATA TAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CALN1_chr7_71774491_72417338	71897989	AAAAGAGA others(22): Show AAAAGAGAGAGAGAGGGAGGGAGGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp1 HG01884.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0061 a0001c0001t0010 a0001c0001t0061	a0001c0001t0010g0114 a0001c0001t0061g0142 a0001c0001t0010g0114 a0001c0001t0061g0142	2	142	0.0141	-29	c.502 others(48): Show c.502-87526_502-87498delCCCCCCCCTCCCTCCCTCTCTCTCTC TTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72139380	TCTCAGCC others(22): Show TCTCAGCCACGCCCACCCTCTTCTAAGCAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20300.hp2 HG03139.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0048 a0001c0001t0013 a0001c0001t0048	a0001c0001t0013g0117 a0001c0001t0048g0129 a0001c0001t0013g0117 a0001c0001t0048g0129	2	142	0.0141	-29	c.245 others(48): Show c.245-33115_245-33087delGTGCTTAGAAGAGGGTGGGCGTGGCT GAG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12691393	ATATATAT others(22): Show ATATATATATAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0086 a0001c0001t0019g0086	1	214	0.0047	-29	c.299 others(48): Show c.299+24585_299+24613delATATATATAAATATATATATATATAT ATT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694095	TTATATAA others(22): Show TTATATAATATATAATATATATTATGCATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02976.hp2 HG01106.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0111 a0001c0002t0010 a0001c0001t0111 a0001c0002t0010	a0001c0001t0111g0028 a0001c0002t0010g0209 a0001c0001t0111g0028 a0001c0002t0010g0209	2	210	0.0095	-29	c.299 others(48): Show c.299+27286_299+27314delTATATAATATATAATATATATTATGC ATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801325	CTATCTAT others(22): Show CTATCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	214	0.0047	-29	c.641 others(48): Show c.641+10122_641+10150delTATCTATCTATCTATCTATCTATCTA TCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAND2_chr3_12791680_12839803	12838028	GAGTTTGG others(22): Show GAGTTTGGGGCTGCGGTGTGCCATGATCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0273 a0014c0018t0001g0273	1	376	0.0027	-29	c.40 others(40): Show c.4047_*4075delAGTTTGGGGCTGCGGTGTGCCATGATCAC	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding		3226		chr3	TogoVar
CANT1_chr17_78986716_79014764	79004726	GAGGGGAG others(22): Show GAGGGGAGTTAGGGAGGGGAGTTAGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	381	0.0026	-29	c.-14 others(48): Show c.-147+4909_-147+4937delTCTCCCTAACTCCCCTCCCTAACTCC CCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN13_chr2_30717771_30812446	30800103	AAAGAAAA others(22): Show AAAGAAAAGAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0286 a0002c0003t0004g0286	1	382	0.0026	-29	c.-33 others(46): Show c.-33+7170_-33+7198delCTTTCTTTCTTTCTTTTCTTTCTTTTCT T	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar

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